Incidental Mutation 'R7492:Ankrd17'
ID |
580833 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd17
|
Ensembl Gene |
ENSMUSG00000055204 |
Gene Name |
ankyrin repeat domain 17 |
Synonyms |
Gtar, A130069E23Rik, 4933425K22Rik |
MMRRC Submission |
045566-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7492 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
90375025-90514436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90381807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 2454
(V2454A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014421]
[ENSMUST00000081914]
[ENSMUST00000168058]
[ENSMUST00000197021]
|
AlphaFold |
Q99NH0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014421
AA Change: V2454A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000014421 Gene: ENSMUSG00000055204 AA Change: V2454A
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 |
probably benign
Transcript: ENSMUST00000081914
AA Change: V2203A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000080587 Gene: ENSMUSG00000055204 AA Change: V2203A
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 |
unknown
Transcript: ENSMUST00000168058
AA Change: V2453A
|
SMART Domains |
Protein: ENSMUSP00000128960 Gene: ENSMUSG00000055204 AA Change: V2453A
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 |
probably benign
Transcript: ENSMUST00000197021
AA Change: V2345A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142575 Gene: ENSMUSG00000055204 AA Change: V2345A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,948,560 (GRCm39) |
D819G |
possibly damaging |
Het |
Abca13 |
A |
T |
11: 9,243,167 (GRCm39) |
I1677L |
probably benign |
Het |
Ablim2 |
A |
G |
5: 35,998,673 (GRCm39) |
S367G |
probably benign |
Het |
Afdn |
G |
C |
17: 14,068,638 (GRCm39) |
|
probably null |
Het |
Aldh6a1 |
A |
G |
12: 84,483,640 (GRCm39) |
L302P |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,718,357 (GRCm39) |
D536G |
unknown |
Het |
Apol7e |
G |
A |
15: 77,601,656 (GRCm39) |
E85K |
possibly damaging |
Het |
Atmin |
A |
G |
8: 117,683,657 (GRCm39) |
D439G |
probably damaging |
Het |
AU040320 |
G |
T |
4: 126,741,648 (GRCm39) |
C952F |
possibly damaging |
Het |
Btbd8 |
G |
A |
5: 107,658,373 (GRCm39) |
E1648K |
probably benign |
Het |
C6 |
A |
G |
15: 4,761,196 (GRCm39) |
S19G |
probably benign |
Het |
Ccdc180 |
A |
T |
4: 45,930,009 (GRCm39) |
|
probably null |
Het |
Cntn1 |
A |
C |
15: 92,212,423 (GRCm39) |
T862P |
probably benign |
Het |
Col5a1 |
T |
C |
2: 27,859,812 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
T |
C |
2: 104,031,650 (GRCm39) |
K964E |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,819,846 (GRCm39) |
Y145C |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,240,737 (GRCm39) |
C196Y |
possibly damaging |
Het |
Efcab11 |
A |
C |
12: 99,844,660 (GRCm39) |
I58R |
possibly damaging |
Het |
Fam81b |
T |
A |
13: 76,419,398 (GRCm39) |
I51F |
probably benign |
Het |
Fbln1 |
G |
A |
15: 85,111,262 (GRCm39) |
V139M |
probably damaging |
Het |
Fbxw25 |
A |
G |
9: 109,493,598 (GRCm39) |
|
probably null |
Het |
Fech |
C |
T |
18: 64,600,842 (GRCm39) |
W220* |
probably null |
Het |
Fgl1 |
C |
T |
8: 41,644,624 (GRCm39) |
W293* |
probably null |
Het |
Firrm |
A |
G |
1: 163,786,897 (GRCm39) |
I724T |
probably benign |
Het |
Foxi2 |
T |
C |
7: 135,012,301 (GRCm39) |
L63P |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,285,237 (GRCm39) |
R1353G |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
Galnt5 |
T |
A |
2: 57,916,048 (GRCm39) |
|
probably null |
Het |
Glb1 |
A |
T |
9: 114,303,017 (GRCm39) |
I618F |
probably damaging |
Het |
Hs2st1 |
A |
T |
3: 144,141,357 (GRCm39) |
M237K |
probably benign |
Het |
Ighm |
T |
C |
12: 113,386,293 (GRCm39) |
D19G |
|
Het |
Il1f10 |
A |
G |
2: 24,182,829 (GRCm39) |
D35G |
probably benign |
Het |
Itpr2 |
G |
A |
6: 146,292,436 (GRCm39) |
T419I |
probably damaging |
Het |
Khdc1a |
A |
T |
1: 21,420,542 (GRCm39) |
E54V |
possibly damaging |
Het |
Kif19a |
A |
G |
11: 114,681,065 (GRCm39) |
D991G |
probably benign |
Het |
Klhl18 |
A |
C |
9: 110,257,843 (GRCm39) |
Y532* |
probably null |
Het |
Lama1 |
T |
C |
17: 68,124,646 (GRCm39) |
F2902S |
|
Het |
Lrba |
T |
C |
3: 86,571,835 (GRCm39) |
S2380P |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,367,925 (GRCm39) |
I196F |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,369,524 (GRCm39) |
K1746E |
possibly damaging |
Het |
Megf10 |
T |
C |
18: 57,424,866 (GRCm39) |
Y1002H |
probably benign |
Het |
Megf8 |
A |
G |
7: 25,053,273 (GRCm39) |
T1815A |
probably benign |
Het |
Mtg1 |
T |
C |
7: 139,724,610 (GRCm39) |
L162P |
probably damaging |
Het |
Myo6 |
T |
A |
9: 80,195,328 (GRCm39) |
Y899* |
probably null |
Het |
Nlrp9a |
A |
T |
7: 26,257,081 (GRCm39) |
D233V |
probably damaging |
Het |
Or10al6 |
A |
T |
17: 38,082,571 (GRCm39) |
Q9L |
possibly damaging |
Het |
Or2z2 |
T |
A |
11: 58,346,715 (GRCm39) |
N20I |
probably benign |
Het |
Or4k45 |
C |
A |
2: 111,395,166 (GRCm39) |
V208L |
probably benign |
Het |
Or6c201 |
T |
A |
10: 128,969,509 (GRCm39) |
I43F |
probably damaging |
Het |
Or8k36-ps1 |
T |
A |
2: 86,437,063 (GRCm39) |
N284I |
unknown |
Het |
Parvb |
A |
T |
15: 84,174,651 (GRCm39) |
Q148L |
probably damaging |
Het |
Pcdhb11 |
C |
T |
18: 37,556,497 (GRCm39) |
T609M |
probably damaging |
Het |
Pcdhga3 |
A |
T |
18: 37,809,178 (GRCm39) |
T544S |
probably benign |
Het |
Pkd1 |
C |
G |
17: 24,788,715 (GRCm39) |
I824M |
probably benign |
Het |
Pkd1l2 |
A |
T |
8: 117,794,849 (GRCm39) |
L370Q |
probably damaging |
Het |
Plcb1 |
G |
T |
2: 135,093,684 (GRCm39) |
E166* |
probably null |
Het |
Pnpt1 |
A |
G |
11: 29,085,522 (GRCm39) |
I138V |
probably benign |
Het |
Pou4f3 |
T |
C |
18: 42,528,996 (GRCm39) |
L313P |
probably damaging |
Het |
Pramel21 |
C |
A |
4: 143,342,744 (GRCm39) |
Q284K |
not run |
Het |
Prep |
A |
G |
10: 44,996,910 (GRCm39) |
Y396C |
probably damaging |
Het |
Prkd3 |
A |
T |
17: 79,269,974 (GRCm39) |
C562* |
probably null |
Het |
Prss12 |
T |
A |
3: 123,276,425 (GRCm39) |
C351* |
probably null |
Het |
Rnf41 |
C |
A |
10: 128,274,283 (GRCm39) |
H312N |
probably damaging |
Het |
Ror1 |
C |
T |
4: 100,298,256 (GRCm39) |
T543I |
probably benign |
Het |
Rreb1 |
G |
A |
13: 38,115,724 (GRCm39) |
V1028I |
probably benign |
Het |
Setd2 |
T |
A |
9: 110,423,700 (GRCm39) |
S474T |
|
Het |
Slc1a2 |
T |
A |
2: 102,570,275 (GRCm39) |
C184* |
probably null |
Het |
Slc2a4 |
G |
A |
11: 69,837,202 (GRCm39) |
T78I |
probably benign |
Het |
Slc4a4 |
T |
A |
5: 89,277,509 (GRCm39) |
I317N |
possibly damaging |
Het |
Smad9 |
G |
A |
3: 54,693,747 (GRCm39) |
|
probably null |
Het |
Sst |
T |
C |
16: 23,708,576 (GRCm39) |
E85G |
probably damaging |
Het |
Sting1 |
T |
C |
18: 35,871,766 (GRCm39) |
Y162C |
probably damaging |
Het |
Svep1 |
T |
G |
4: 58,066,468 (GRCm39) |
E3205D |
possibly damaging |
Het |
Tmc7 |
G |
T |
7: 118,141,189 (GRCm39) |
S647R |
probably benign |
Het |
Trnt1 |
T |
C |
6: 106,751,493 (GRCm39) |
S157P |
possibly damaging |
Het |
Ttc6 |
A |
T |
12: 57,719,922 (GRCm39) |
H831L |
probably benign |
Het |
Vmn1r121 |
A |
G |
7: 20,832,095 (GRCm39) |
F115S |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,238,020 (GRCm39) |
D207G |
possibly damaging |
Het |
Vwde |
C |
A |
6: 13,204,980 (GRCm39) |
K300N |
probably null |
Het |
Zfp418 |
A |
G |
7: 7,184,396 (GRCm39) |
T120A |
possibly damaging |
Het |
Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
probably damaging |
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 |
R7365:Ankrd17
|
UTSW |
5 |
90,439,010 (GRCm39) |
missense |
possibly damaging |
0.45 |
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 |
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'- CTGAAGAGACAGGAATAGAGATCCTTT -3'
(R):5'- ATCCTCTGGAGTTCGTGCAC -3'
Sequencing Primer
(F):5'- CAGGGGATTCAATGCTCTCATCTAG -3'
(R):5'- TGGAGTTCGTGCACCGTCTC -3'
|
Posted On |
2019-10-17 |