Incidental Mutation 'R7365:Ankrd17'
ID |
571698 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd17
|
Ensembl Gene |
ENSMUSG00000055204 |
Gene Name |
ankyrin repeat domain 17 |
Synonyms |
Gtar, A130069E23Rik, 4933425K22Rik |
MMRRC Submission |
045449-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7365 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
90375025-90514436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90439010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 451
(D451G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014421]
[ENSMUST00000081914]
[ENSMUST00000168058]
[ENSMUST00000197021]
[ENSMUST00000218526]
|
AlphaFold |
Q99NH0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014421
AA Change: D451G
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000014421 Gene: ENSMUSG00000055204 AA Change: D451G
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
40 |
N/A |
INTRINSIC |
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
low complexity region
|
82 |
130 |
N/A |
INTRINSIC |
ANK
|
229 |
258 |
8.62e1 |
SMART |
ANK
|
262 |
291 |
3.31e-1 |
SMART |
ANK
|
296 |
325 |
3.51e-5 |
SMART |
ANK
|
329 |
358 |
1.33e-5 |
SMART |
ANK
|
362 |
391 |
3.46e-4 |
SMART |
ANK
|
396 |
425 |
3.23e-4 |
SMART |
ANK
|
429 |
458 |
1.61e-4 |
SMART |
ANK
|
462 |
491 |
1.46e-2 |
SMART |
ANK
|
495 |
524 |
3.88e-7 |
SMART |
ANK
|
529 |
558 |
4.19e-3 |
SMART |
ANK
|
559 |
588 |
1.76e-5 |
SMART |
ANK
|
592 |
621 |
3.51e-5 |
SMART |
ANK
|
625 |
654 |
5.62e-4 |
SMART |
ANK
|
659 |
688 |
1.29e-3 |
SMART |
ANK
|
692 |
721 |
1.44e-1 |
SMART |
coiled coil region
|
800 |
883 |
N/A |
INTRINSIC |
low complexity region
|
890 |
903 |
N/A |
INTRINSIC |
low complexity region
|
955 |
968 |
N/A |
INTRINSIC |
low complexity region
|
986 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1060 |
N/A |
INTRINSIC |
ANK
|
1078 |
1107 |
2.13e-4 |
SMART |
ANK
|
1111 |
1140 |
8.19e-6 |
SMART |
ANK
|
1145 |
1174 |
1.68e-2 |
SMART |
ANK
|
1178 |
1207 |
1.61e-4 |
SMART |
ANK
|
1213 |
1242 |
1.43e-5 |
SMART |
ANK
|
1247 |
1276 |
1.83e-3 |
SMART |
ANK
|
1280 |
1309 |
3.91e-3 |
SMART |
ANK
|
1315 |
1344 |
1.93e-2 |
SMART |
ANK
|
1348 |
1377 |
8.78e-6 |
SMART |
ANK
|
1381 |
1410 |
7.59e-1 |
SMART |
coiled coil region
|
1454 |
1522 |
N/A |
INTRINSIC |
low complexity region
|
1597 |
1611 |
N/A |
INTRINSIC |
low complexity region
|
1616 |
1636 |
N/A |
INTRINSIC |
KH
|
1720 |
1790 |
8.31e-14 |
SMART |
low complexity region
|
1816 |
1827 |
N/A |
INTRINSIC |
low complexity region
|
1834 |
1850 |
N/A |
INTRINSIC |
low complexity region
|
1946 |
1989 |
N/A |
INTRINSIC |
low complexity region
|
1996 |
2024 |
N/A |
INTRINSIC |
low complexity region
|
2035 |
2052 |
N/A |
INTRINSIC |
low complexity region
|
2068 |
2077 |
N/A |
INTRINSIC |
low complexity region
|
2086 |
2110 |
N/A |
INTRINSIC |
low complexity region
|
2175 |
2189 |
N/A |
INTRINSIC |
low complexity region
|
2348 |
2365 |
N/A |
INTRINSIC |
low complexity region
|
2392 |
2411 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081914
AA Change: D451G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080587 Gene: ENSMUSG00000055204 AA Change: D451G
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
40 |
N/A |
INTRINSIC |
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
low complexity region
|
82 |
130 |
N/A |
INTRINSIC |
ANK
|
229 |
258 |
8.62e1 |
SMART |
ANK
|
262 |
291 |
3.31e-1 |
SMART |
ANK
|
296 |
325 |
3.51e-5 |
SMART |
ANK
|
329 |
358 |
1.33e-5 |
SMART |
ANK
|
362 |
391 |
3.46e-4 |
SMART |
ANK
|
396 |
425 |
3.23e-4 |
SMART |
ANK
|
429 |
458 |
1.61e-4 |
SMART |
ANK
|
462 |
491 |
1.46e-2 |
SMART |
ANK
|
495 |
524 |
3.88e-7 |
SMART |
ANK
|
529 |
558 |
4.19e-3 |
SMART |
ANK
|
559 |
588 |
1.76e-5 |
SMART |
ANK
|
592 |
621 |
3.51e-5 |
SMART |
ANK
|
625 |
654 |
5.62e-4 |
SMART |
ANK
|
659 |
688 |
1.29e-3 |
SMART |
ANK
|
692 |
721 |
1.44e-1 |
SMART |
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
ANK
|
827 |
856 |
2.13e-4 |
SMART |
ANK
|
860 |
889 |
8.19e-6 |
SMART |
ANK
|
894 |
923 |
1.68e-2 |
SMART |
ANK
|
927 |
956 |
1.61e-4 |
SMART |
ANK
|
962 |
991 |
1.43e-5 |
SMART |
ANK
|
996 |
1025 |
1.83e-3 |
SMART |
ANK
|
1029 |
1058 |
3.91e-3 |
SMART |
ANK
|
1064 |
1093 |
1.93e-2 |
SMART |
ANK
|
1097 |
1126 |
8.78e-6 |
SMART |
ANK
|
1130 |
1159 |
7.59e-1 |
SMART |
coiled coil region
|
1203 |
1271 |
N/A |
INTRINSIC |
low complexity region
|
1346 |
1360 |
N/A |
INTRINSIC |
low complexity region
|
1365 |
1385 |
N/A |
INTRINSIC |
KH
|
1469 |
1539 |
8.31e-14 |
SMART |
low complexity region
|
1565 |
1576 |
N/A |
INTRINSIC |
low complexity region
|
1583 |
1599 |
N/A |
INTRINSIC |
low complexity region
|
1695 |
1738 |
N/A |
INTRINSIC |
low complexity region
|
1745 |
1773 |
N/A |
INTRINSIC |
low complexity region
|
1784 |
1801 |
N/A |
INTRINSIC |
low complexity region
|
1817 |
1826 |
N/A |
INTRINSIC |
low complexity region
|
1835 |
1859 |
N/A |
INTRINSIC |
low complexity region
|
1924 |
1938 |
N/A |
INTRINSIC |
low complexity region
|
2097 |
2114 |
N/A |
INTRINSIC |
low complexity region
|
2141 |
2160 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000128960 Gene: ENSMUSG00000055204 AA Change: D451G
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
40 |
N/A |
INTRINSIC |
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
low complexity region
|
82 |
130 |
N/A |
INTRINSIC |
ANK
|
229 |
258 |
8.62e1 |
SMART |
ANK
|
262 |
291 |
3.31e-1 |
SMART |
ANK
|
296 |
325 |
3.51e-5 |
SMART |
ANK
|
329 |
358 |
1.33e-5 |
SMART |
ANK
|
362 |
391 |
3.46e-4 |
SMART |
ANK
|
396 |
425 |
3.23e-4 |
SMART |
ANK
|
429 |
458 |
1.61e-4 |
SMART |
ANK
|
462 |
491 |
1.46e-2 |
SMART |
ANK
|
495 |
524 |
3.88e-7 |
SMART |
ANK
|
529 |
558 |
4.19e-3 |
SMART |
ANK
|
559 |
588 |
1.76e-5 |
SMART |
ANK
|
592 |
621 |
3.51e-5 |
SMART |
ANK
|
625 |
654 |
5.62e-4 |
SMART |
ANK
|
659 |
688 |
1.29e-3 |
SMART |
ANK
|
692 |
721 |
1.44e-1 |
SMART |
coiled coil region
|
800 |
883 |
N/A |
INTRINSIC |
low complexity region
|
890 |
903 |
N/A |
INTRINSIC |
low complexity region
|
955 |
968 |
N/A |
INTRINSIC |
low complexity region
|
986 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1060 |
N/A |
INTRINSIC |
ANK
|
1078 |
1107 |
2.13e-4 |
SMART |
ANK
|
1111 |
1140 |
8.19e-6 |
SMART |
ANK
|
1145 |
1174 |
1.68e-2 |
SMART |
ANK
|
1178 |
1207 |
1.61e-4 |
SMART |
ANK
|
1213 |
1242 |
1.43e-5 |
SMART |
ANK
|
1247 |
1276 |
1.83e-3 |
SMART |
ANK
|
1280 |
1309 |
3.91e-3 |
SMART |
ANK
|
1315 |
1344 |
1.93e-2 |
SMART |
ANK
|
1348 |
1377 |
8.78e-6 |
SMART |
ANK
|
1381 |
1410 |
7.59e-1 |
SMART |
coiled coil region
|
1454 |
1522 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000197021
AA Change: D342G
|
SMART Domains |
Protein: ENSMUSP00000142575 Gene: ENSMUSG00000055204 AA Change: D342G
Domain | Start | End | E-Value | Type |
ANK
|
120 |
149 |
5.4e-1 |
SMART |
ANK
|
153 |
182 |
2e-3 |
SMART |
ANK
|
187 |
216 |
2.2e-7 |
SMART |
ANK
|
220 |
249 |
8.2e-8 |
SMART |
ANK
|
253 |
282 |
2.2e-6 |
SMART |
ANK
|
287 |
316 |
2.1e-6 |
SMART |
ANK
|
320 |
349 |
9.9e-7 |
SMART |
ANK
|
353 |
382 |
9.5e-5 |
SMART |
ANK
|
386 |
415 |
2.4e-9 |
SMART |
ANK
|
420 |
449 |
2.6e-5 |
SMART |
ANK
|
450 |
479 |
1.1e-7 |
SMART |
ANK
|
483 |
512 |
2.2e-7 |
SMART |
ANK
|
516 |
545 |
3.5e-6 |
SMART |
ANK
|
550 |
579 |
7.9e-6 |
SMART |
ANK
|
583 |
612 |
8.9e-4 |
SMART |
coiled coil region
|
691 |
774 |
N/A |
INTRINSIC |
low complexity region
|
781 |
794 |
N/A |
INTRINSIC |
low complexity region
|
846 |
859 |
N/A |
INTRINSIC |
low complexity region
|
877 |
888 |
N/A |
INTRINSIC |
low complexity region
|
937 |
951 |
N/A |
INTRINSIC |
ANK
|
969 |
998 |
1.4e-6 |
SMART |
ANK
|
1002 |
1031 |
5.3e-8 |
SMART |
ANK
|
1036 |
1065 |
1e-4 |
SMART |
ANK
|
1069 |
1098 |
1e-6 |
SMART |
ANK
|
1104 |
1133 |
9.1e-8 |
SMART |
ANK
|
1138 |
1167 |
1.2e-5 |
SMART |
ANK
|
1171 |
1200 |
2.5e-5 |
SMART |
ANK
|
1206 |
1235 |
1.2e-4 |
SMART |
ANK
|
1239 |
1268 |
5.5e-8 |
SMART |
ANK
|
1272 |
1301 |
4.7e-3 |
SMART |
coiled coil region
|
1345 |
1413 |
N/A |
INTRINSIC |
low complexity region
|
1488 |
1502 |
N/A |
INTRINSIC |
low complexity region
|
1507 |
1527 |
N/A |
INTRINSIC |
KH
|
1611 |
1681 |
5.1e-16 |
SMART |
low complexity region
|
1707 |
1718 |
N/A |
INTRINSIC |
low complexity region
|
1725 |
1741 |
N/A |
INTRINSIC |
low complexity region
|
1837 |
1880 |
N/A |
INTRINSIC |
low complexity region
|
1887 |
1915 |
N/A |
INTRINSIC |
low complexity region
|
1926 |
1943 |
N/A |
INTRINSIC |
low complexity region
|
1959 |
1968 |
N/A |
INTRINSIC |
low complexity region
|
1977 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2066 |
2080 |
N/A |
INTRINSIC |
low complexity region
|
2239 |
2256 |
N/A |
INTRINSIC |
low complexity region
|
2283 |
2302 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218526
AA Change: D451G
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (96/96) |
MGI Phenotype |
FUNCTION: This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with hemorrhages, impaired vascular smooth muscle cell development, impaired vascular integrity, and growth retardation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(133) : Targeted(4) Gene trapped(129)
|
Other mutations in this stock |
Total: 96 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
C |
5: 138,561,198 (GRCm39) |
S155G |
probably benign |
Het |
Abcc4 |
T |
C |
14: 118,865,066 (GRCm39) |
N320S |
probably damaging |
Het |
Akr1c19 |
G |
A |
13: 4,287,069 (GRCm39) |
R96H |
probably benign |
Het |
Ano8 |
T |
A |
8: 71,937,754 (GRCm39) |
D36V |
probably damaging |
Het |
Aqp3 |
A |
G |
4: 41,098,003 (GRCm39) |
V36A |
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,537,708 (GRCm39) |
T314A |
probably benign |
Het |
Atp2c1 |
A |
T |
9: 105,300,198 (GRCm39) |
D700E |
probably damaging |
Het |
Axin2 |
G |
A |
11: 108,830,202 (GRCm39) |
V341M |
possibly damaging |
Het |
Bin3 |
A |
G |
14: 70,371,976 (GRCm39) |
Q139R |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,455,802 (GRCm39) |
D181G |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,325,295 (GRCm39) |
E466G |
probably damaging |
Het |
Ccdc14 |
T |
A |
16: 34,543,989 (GRCm39) |
Y830* |
probably null |
Het |
Cdk12 |
T |
C |
11: 98,111,910 (GRCm39) |
F723L |
unknown |
Het |
Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
Cip2a |
T |
A |
16: 48,822,016 (GRCm39) |
S215T |
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,804,545 (GRCm39) |
I61F |
probably damaging |
Het |
Clca4b |
T |
C |
3: 144,628,529 (GRCm39) |
T393A |
not run |
Het |
Cldn5 |
G |
A |
16: 18,595,845 (GRCm39) |
A34T |
probably damaging |
Het |
Cobll1 |
A |
T |
2: 64,928,717 (GRCm39) |
S870T |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,613,642 (GRCm39) |
K68E |
probably damaging |
Het |
Crnn |
A |
T |
3: 93,055,841 (GRCm39) |
Q209L |
probably damaging |
Het |
Cwf19l1 |
A |
T |
19: 44,120,579 (GRCm39) |
F45I |
probably damaging |
Het |
Cyfip2 |
T |
A |
11: 46,098,267 (GRCm39) |
K1052* |
probably null |
Het |
D930020B18Rik |
G |
A |
10: 121,503,716 (GRCm39) |
|
probably null |
Het |
Dcc |
G |
A |
18: 71,959,194 (GRCm39) |
P193S |
probably damaging |
Het |
Dda1 |
T |
A |
8: 71,927,137 (GRCm39) |
C48S |
probably benign |
Het |
Disc1 |
A |
G |
8: 125,881,780 (GRCm39) |
R572G |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,536,297 (GRCm39) |
M2582K |
probably benign |
Het |
Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
Dynlrb2 |
T |
C |
8: 117,241,696 (GRCm39) |
V80A |
probably benign |
Het |
Eif3a |
A |
T |
19: 60,755,082 (GRCm39) |
D1033E |
unknown |
Het |
Enam |
C |
A |
5: 88,649,347 (GRCm39) |
H285Q |
possibly damaging |
Het |
Ep400 |
T |
C |
5: 110,867,480 (GRCm39) |
D980G |
unknown |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Erc2 |
A |
C |
14: 27,762,346 (GRCm39) |
D703A |
probably damaging |
Het |
Ezh2 |
G |
T |
6: 47,510,692 (GRCm39) |
S639* |
probably null |
Het |
Fbn1 |
G |
A |
2: 125,193,969 (GRCm39) |
H1333Y |
probably damaging |
Het |
Flad1 |
A |
G |
3: 89,315,972 (GRCm39) |
S197P |
possibly damaging |
Het |
Foxl3 |
A |
G |
5: 138,806,736 (GRCm39) |
H82R |
probably damaging |
Het |
Gfm2 |
G |
T |
13: 97,279,529 (GRCm39) |
C26F |
probably benign |
Het |
Golga2 |
C |
T |
2: 32,193,013 (GRCm39) |
Q444* |
probably null |
Het |
Gp5 |
A |
T |
16: 30,127,426 (GRCm39) |
V416D |
probably damaging |
Het |
Gpat2 |
A |
G |
2: 127,268,901 (GRCm39) |
|
probably null |
Het |
Gpr137c |
A |
G |
14: 45,516,471 (GRCm39) |
D353G |
probably damaging |
Het |
Hoxa13 |
A |
C |
6: 52,236,862 (GRCm39) |
W133G |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,284,294 (GRCm39) |
I3189F |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,327,905 (GRCm39) |
K4804M |
probably damaging |
Het |
Ice2 |
T |
C |
9: 69,307,794 (GRCm39) |
F26S |
probably damaging |
Het |
Ints11 |
T |
C |
4: 155,956,687 (GRCm39) |
|
probably null |
Het |
Ipo5 |
A |
G |
14: 121,157,497 (GRCm39) |
I112V |
probably benign |
Het |
Itgax |
T |
A |
7: 127,734,481 (GRCm39) |
S346R |
probably damaging |
Het |
Kcnj13 |
T |
A |
1: 87,316,739 (GRCm39) |
M125L |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,783,948 (GRCm39) |
V359E |
possibly damaging |
Het |
Lrrc7 |
T |
G |
3: 157,903,798 (GRCm39) |
K287N |
probably damaging |
Het |
Mau2 |
C |
T |
8: 70,481,884 (GRCm39) |
A191T |
possibly damaging |
Het |
Mkx |
C |
A |
18: 7,000,747 (GRCm39) |
R65L |
possibly damaging |
Het |
Mroh4 |
T |
A |
15: 74,482,220 (GRCm39) |
K746* |
probably null |
Het |
Myh4 |
A |
G |
11: 67,133,674 (GRCm39) |
T238A |
probably damaging |
Het |
Nlrp9c |
T |
A |
7: 26,070,822 (GRCm39) |
N920Y |
possibly damaging |
Het |
Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
Ntn4 |
T |
C |
10: 93,480,666 (GRCm39) |
L130P |
probably damaging |
Het |
Or2ag13 |
A |
G |
7: 106,313,171 (GRCm39) |
V239A |
probably benign |
Het |
Or4a68 |
A |
G |
2: 89,270,542 (GRCm39) |
V27A |
probably benign |
Het |
Or4f59 |
A |
T |
2: 111,873,359 (GRCm39) |
V6E |
possibly damaging |
Het |
Or56a42-ps1 |
T |
A |
7: 104,777,552 (GRCm39) |
I21F |
probably benign |
Het |
Or8d23 |
A |
T |
9: 38,842,072 (GRCm39) |
I202F |
probably damaging |
Het |
Otog |
T |
C |
7: 45,947,732 (GRCm39) |
L110P |
probably damaging |
Het |
Platr25 |
G |
A |
13: 62,848,719 (GRCm39) |
H48Y |
probably benign |
Het |
Plcxd2 |
T |
C |
16: 45,800,789 (GRCm39) |
E145G |
probably damaging |
Het |
Pltp |
A |
T |
2: 164,696,242 (GRCm39) |
N143K |
probably damaging |
Het |
Pnpt1 |
T |
C |
11: 29,111,334 (GRCm39) |
Y735H |
probably damaging |
Het |
Prom1 |
A |
G |
5: 44,178,173 (GRCm39) |
Y520H |
probably damaging |
Het |
Rag2 |
A |
G |
2: 101,461,118 (GRCm39) |
Y476C |
probably damaging |
Het |
Rdh16f2 |
A |
G |
10: 127,712,893 (GRCm39) |
Y297C |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,785,180 (GRCm39) |
E1844G |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,655,161 (GRCm39) |
C3679R |
probably damaging |
Het |
Sirt1 |
A |
G |
10: 63,157,782 (GRCm39) |
I544T |
probably benign |
Het |
Slc26a10 |
A |
T |
10: 127,012,716 (GRCm39) |
I382N |
possibly damaging |
Het |
Sox2 |
C |
A |
3: 34,705,121 (GRCm39) |
P186Q |
possibly damaging |
Het |
Spata31e5 |
A |
T |
1: 28,819,233 (GRCm39) |
M16K |
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,556,995 (GRCm39) |
L752P |
probably damaging |
Het |
Top2b |
T |
A |
14: 16,416,649 (GRCm38) |
N1136K |
probably benign |
Het |
Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
Ttf2 |
C |
A |
3: 100,870,618 (GRCm39) |
D152Y |
possibly damaging |
Het |
Txndc15 |
T |
C |
13: 55,862,601 (GRCm39) |
L4P |
unknown |
Het |
Unc5a |
T |
C |
13: 55,144,386 (GRCm39) |
V237A |
possibly damaging |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Vav3 |
C |
A |
3: 109,535,415 (GRCm39) |
P616T |
possibly damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,441,105 (GRCm39) |
D251V |
probably benign |
Het |
Vmn2r15 |
A |
G |
5: 109,445,388 (GRCm39) |
L12S |
probably benign |
Het |
Wfs1 |
A |
C |
5: 37,125,076 (GRCm39) |
I605S |
probably benign |
Het |
Wif1 |
G |
A |
10: 120,919,814 (GRCm39) |
R187Q |
possibly damaging |
Het |
Yipf1 |
A |
G |
4: 107,207,738 (GRCm39) |
|
probably null |
Het |
Zdhhc20 |
G |
T |
14: 58,111,377 (GRCm39) |
F74L |
possibly damaging |
Het |
Zfp507 |
T |
C |
7: 35,475,843 (GRCm39) |
T303A |
unknown |
Het |
Zfp763 |
A |
T |
17: 33,252,352 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ankrd17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Ankrd17
|
APN |
5 |
90,381,787 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00484:Ankrd17
|
APN |
5 |
90,416,220 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01320:Ankrd17
|
APN |
5 |
90,407,988 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01776:Ankrd17
|
APN |
5 |
90,431,223 (GRCm39) |
nonsense |
probably null |
|
IGL02093:Ankrd17
|
APN |
5 |
90,390,822 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02292:Ankrd17
|
APN |
5 |
90,400,718 (GRCm39) |
unclassified |
probably benign |
|
IGL02302:Ankrd17
|
APN |
5 |
90,431,057 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02472:Ankrd17
|
APN |
5 |
90,412,010 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02705:Ankrd17
|
APN |
5 |
90,430,974 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02727:Ankrd17
|
APN |
5 |
90,392,151 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02884:Ankrd17
|
APN |
5 |
90,412,616 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Ankrd17
|
UTSW |
5 |
90,391,013 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT1430001:Ankrd17
|
UTSW |
5 |
90,400,832 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0025:Ankrd17
|
UTSW |
5 |
90,398,264 (GRCm39) |
missense |
probably damaging |
0.99 |
R0076:Ankrd17
|
UTSW |
5 |
90,392,265 (GRCm39) |
nonsense |
probably null |
|
R0076:Ankrd17
|
UTSW |
5 |
90,392,265 (GRCm39) |
nonsense |
probably null |
|
R0271:Ankrd17
|
UTSW |
5 |
90,402,658 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0684:Ankrd17
|
UTSW |
5 |
90,411,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R1239:Ankrd17
|
UTSW |
5 |
90,436,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R1457:Ankrd17
|
UTSW |
5 |
90,433,705 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1505:Ankrd17
|
UTSW |
5 |
90,447,885 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1766:Ankrd17
|
UTSW |
5 |
90,412,656 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1770:Ankrd17
|
UTSW |
5 |
90,391,235 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1780:Ankrd17
|
UTSW |
5 |
90,380,274 (GRCm39) |
missense |
probably damaging |
0.96 |
R1916:Ankrd17
|
UTSW |
5 |
90,408,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R1926:Ankrd17
|
UTSW |
5 |
90,392,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R2090:Ankrd17
|
UTSW |
5 |
90,445,905 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2153:Ankrd17
|
UTSW |
5 |
90,381,918 (GRCm39) |
missense |
probably damaging |
0.98 |
R2279:Ankrd17
|
UTSW |
5 |
90,412,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Ankrd17
|
UTSW |
5 |
90,437,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3012:Ankrd17
|
UTSW |
5 |
90,378,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R3417:Ankrd17
|
UTSW |
5 |
90,391,772 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3704:Ankrd17
|
UTSW |
5 |
90,391,828 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4581:Ankrd17
|
UTSW |
5 |
90,430,979 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4850:Ankrd17
|
UTSW |
5 |
90,412,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4926:Ankrd17
|
UTSW |
5 |
90,447,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R5023:Ankrd17
|
UTSW |
5 |
90,430,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R5068:Ankrd17
|
UTSW |
5 |
90,402,667 (GRCm39) |
missense |
probably damaging |
0.96 |
R5109:Ankrd17
|
UTSW |
5 |
90,391,395 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5111:Ankrd17
|
UTSW |
5 |
90,390,858 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5214:Ankrd17
|
UTSW |
5 |
90,431,319 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5362:Ankrd17
|
UTSW |
5 |
90,413,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Ankrd17
|
UTSW |
5 |
90,391,083 (GRCm39) |
missense |
probably benign |
0.00 |
R5615:Ankrd17
|
UTSW |
5 |
90,431,295 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5874:Ankrd17
|
UTSW |
5 |
90,416,656 (GRCm39) |
intron |
probably benign |
|
R5932:Ankrd17
|
UTSW |
5 |
90,413,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R5944:Ankrd17
|
UTSW |
5 |
90,433,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R5993:Ankrd17
|
UTSW |
5 |
90,487,531 (GRCm39) |
intron |
probably benign |
|
R6052:Ankrd17
|
UTSW |
5 |
90,401,691 (GRCm39) |
missense |
probably benign |
0.03 |
R6088:Ankrd17
|
UTSW |
5 |
90,401,547 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6306:Ankrd17
|
UTSW |
5 |
90,392,013 (GRCm39) |
missense |
probably benign |
0.03 |
R6418:Ankrd17
|
UTSW |
5 |
90,426,204 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6663:Ankrd17
|
UTSW |
5 |
90,411,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R6758:Ankrd17
|
UTSW |
5 |
90,411,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R6782:Ankrd17
|
UTSW |
5 |
90,402,597 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6793:Ankrd17
|
UTSW |
5 |
90,413,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R6929:Ankrd17
|
UTSW |
5 |
90,433,384 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7008:Ankrd17
|
UTSW |
5 |
90,407,955 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7051:Ankrd17
|
UTSW |
5 |
90,514,310 (GRCm39) |
unclassified |
probably benign |
|
R7077:Ankrd17
|
UTSW |
5 |
90,433,723 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7134:Ankrd17
|
UTSW |
5 |
90,433,382 (GRCm39) |
missense |
probably benign |
0.03 |
R7134:Ankrd17
|
UTSW |
5 |
90,380,173 (GRCm39) |
missense |
probably damaging |
0.99 |
R7138:Ankrd17
|
UTSW |
5 |
90,390,836 (GRCm39) |
missense |
probably benign |
0.38 |
R7143:Ankrd17
|
UTSW |
5 |
90,433,820 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7173:Ankrd17
|
UTSW |
5 |
90,407,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7176:Ankrd17
|
UTSW |
5 |
90,416,594 (GRCm39) |
missense |
probably damaging |
0.99 |
R7390:Ankrd17
|
UTSW |
5 |
90,430,779 (GRCm39) |
missense |
probably benign |
0.13 |
R7430:Ankrd17
|
UTSW |
5 |
90,443,516 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7468:Ankrd17
|
UTSW |
5 |
90,390,902 (GRCm39) |
missense |
probably benign |
|
R7483:Ankrd17
|
UTSW |
5 |
90,447,855 (GRCm39) |
missense |
probably benign |
0.00 |
R7492:Ankrd17
|
UTSW |
5 |
90,381,807 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7610:Ankrd17
|
UTSW |
5 |
90,380,222 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7636:Ankrd17
|
UTSW |
5 |
90,380,239 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7790:Ankrd17
|
UTSW |
5 |
90,408,011 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7839:Ankrd17
|
UTSW |
5 |
90,411,213 (GRCm39) |
missense |
probably damaging |
0.97 |
R7853:Ankrd17
|
UTSW |
5 |
90,386,825 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7976:Ankrd17
|
UTSW |
5 |
90,431,451 (GRCm39) |
nonsense |
probably null |
|
R8054:Ankrd17
|
UTSW |
5 |
90,438,914 (GRCm39) |
missense |
probably benign |
0.43 |
R8230:Ankrd17
|
UTSW |
5 |
90,391,835 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8274:Ankrd17
|
UTSW |
5 |
90,430,718 (GRCm39) |
missense |
probably benign |
0.15 |
R8365:Ankrd17
|
UTSW |
5 |
90,398,378 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8532:Ankrd17
|
UTSW |
5 |
90,412,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Ankrd17
|
UTSW |
5 |
90,443,452 (GRCm39) |
missense |
probably benign |
|
R8812:Ankrd17
|
UTSW |
5 |
90,441,062 (GRCm39) |
missense |
probably benign |
0.09 |
R8933:Ankrd17
|
UTSW |
5 |
90,406,325 (GRCm39) |
missense |
probably damaging |
0.99 |
R9051:Ankrd17
|
UTSW |
5 |
90,411,134 (GRCm39) |
missense |
probably damaging |
0.99 |
R9055:Ankrd17
|
UTSW |
5 |
90,380,168 (GRCm39) |
missense |
probably benign |
0.33 |
R9136:Ankrd17
|
UTSW |
5 |
90,392,278 (GRCm39) |
missense |
probably damaging |
0.96 |
R9158:Ankrd17
|
UTSW |
5 |
90,416,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R9201:Ankrd17
|
UTSW |
5 |
90,378,798 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9315:Ankrd17
|
UTSW |
5 |
90,398,360 (GRCm39) |
missense |
probably damaging |
0.97 |
R9364:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9366:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Ankrd17
|
UTSW |
5 |
90,391,986 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9369:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9381:Ankrd17
|
UTSW |
5 |
90,416,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Ankrd17
|
UTSW |
5 |
90,401,536 (GRCm39) |
missense |
|
|
X0019:Ankrd17
|
UTSW |
5 |
90,446,513 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ankrd17
|
UTSW |
5 |
90,437,184 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1177:Ankrd17
|
UTSW |
5 |
90,431,364 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTGGCCAAGAAGTAACGC -3'
(R):5'- CTGGCAACACAGCATATAATTACTG -3'
Sequencing Primer
(F):5'- GAAGTAACGCCACCATTTCTTCATG -3'
(R):5'- TCTAGTGTGAGGGAACATC -3'
|
Posted On |
2019-09-13 |