Incidental Mutation 'R7483:Ankrd17'
ID |
579906 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd17
|
Ensembl Gene |
ENSMUSG00000055204 |
Gene Name |
ankyrin repeat domain 17 |
Synonyms |
Gtar, A130069E23Rik, 4933425K22Rik |
MMRRC Submission |
045557-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7483 (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 90447855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 229
(S229P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014421]
[ENSMUST00000081914]
[ENSMUST00000168058]
[ENSMUST00000197021]
[ENSMUST00000218526]
|
AlphaFold |
Q99NH0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014421
AA Change: S229P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000014421 Gene: ENSMUSG00000055204 AA Change: S229P
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: S229P
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000080587 Gene: ENSMUSG00000055204 AA Change: S229P
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: S229P
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: S120P
|
SMART Domains |
Protein: ENSMUSP00000142575 Gene: ENSMUSG00000055204 AA Change: S120P
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 |
probably benign
Transcript: ENSMUST00000218526
AA Change: S229P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
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: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
A |
T |
5: 121,794,075 (GRCm39) |
|
probably null |
Het |
Ahnak |
T |
C |
19: 8,982,186 (GRCm39) |
S1157P |
probably damaging |
Het |
Akap12 |
T |
G |
10: 4,303,967 (GRCm39) |
V364G |
probably benign |
Het |
Apof |
A |
T |
10: 128,104,636 (GRCm39) |
Y5F |
probably benign |
Het |
Arhgap24 |
T |
A |
5: 102,989,174 (GRCm39) |
M94K |
probably benign |
Het |
Ash2l |
G |
T |
8: 26,312,798 (GRCm39) |
D479E |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,245,824 (GRCm39) |
C623S |
probably benign |
Het |
Bmper |
T |
A |
9: 23,395,238 (GRCm39) |
N656K |
probably benign |
Het |
Braf |
T |
C |
6: 39,604,772 (GRCm39) |
I619V |
possibly damaging |
Het |
Brwd1 |
T |
C |
16: 95,857,373 (GRCm39) |
R396G |
probably damaging |
Het |
Car7 |
A |
T |
8: 105,276,216 (GRCm39) |
T234S |
probably benign |
Het |
Catsper4 |
A |
T |
4: 133,945,552 (GRCm39) |
V169E |
probably damaging |
Het |
Cemip |
T |
G |
7: 83,647,784 (GRCm39) |
I99L |
probably damaging |
Het |
Chrna7 |
C |
A |
7: 62,754,738 (GRCm39) |
V290L |
probably damaging |
Het |
Clip1 |
A |
T |
5: 123,755,447 (GRCm39) |
D944E |
probably benign |
Het |
Cplane2 |
A |
G |
4: 140,947,153 (GRCm39) |
D178G |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,677,581 (GRCm39) |
T470A |
probably benign |
Het |
Dmbx1 |
G |
T |
4: 115,780,908 (GRCm39) |
A31D |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,214,579 (GRCm39) |
F1115L |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,493,283 (GRCm39) |
I1897V |
probably benign |
Het |
Efcab3 |
A |
G |
11: 105,000,112 (GRCm39) |
I234V |
probably benign |
Het |
Eid2b |
T |
G |
7: 27,977,243 (GRCm39) |
L13R |
probably damaging |
Het |
Enam |
A |
G |
5: 88,649,679 (GRCm39) |
Y396C |
probably damaging |
Het |
Fam161a |
A |
T |
11: 22,971,006 (GRCm39) |
T395S |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,476,197 (GRCm39) |
R1748G |
probably benign |
Het |
Fdxacb1 |
C |
A |
9: 50,681,451 (GRCm39) |
T124K |
possibly damaging |
Het |
Fer1l6 |
A |
T |
15: 58,513,794 (GRCm39) |
D1563V |
possibly damaging |
Het |
Gm20834 |
T |
C |
Y: 10,323,226 (GRCm39) |
H70R |
probably damaging |
Het |
Gucy2d |
T |
A |
7: 98,098,964 (GRCm39) |
M261K |
probably damaging |
Het |
Hcar2 |
T |
A |
5: 124,002,861 (GRCm39) |
Q214L |
probably benign |
Het |
Hdac11 |
C |
T |
6: 91,136,214 (GRCm39) |
H75Y |
probably damaging |
Het |
Hoxa2 |
C |
A |
6: 52,141,279 (GRCm39) |
A116S |
probably benign |
Het |
Ints2 |
A |
G |
11: 86,106,444 (GRCm39) |
C989R |
probably damaging |
Het |
Jpt1 |
T |
C |
11: 115,393,950 (GRCm39) |
E36G |
probably damaging |
Het |
Kdm5d |
G |
A |
Y: 914,044 (GRCm39) |
R327Q |
possibly damaging |
Het |
Klhl1 |
T |
C |
14: 96,584,304 (GRCm39) |
M309V |
probably benign |
Het |
Larp4 |
A |
G |
15: 99,889,659 (GRCm39) |
K193E |
probably benign |
Het |
Lmo3 |
C |
T |
6: 138,393,500 (GRCm39) |
C40Y |
probably damaging |
Het |
Mcm4 |
A |
G |
16: 15,448,306 (GRCm39) |
V417A |
probably benign |
Het |
Med8 |
A |
G |
4: 118,268,176 (GRCm39) |
E34G |
probably damaging |
Het |
Mex3b |
G |
T |
7: 82,517,114 (GRCm39) |
A86S |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,224,245 (GRCm39) |
T1646A |
unknown |
Het |
Myo15b |
A |
T |
11: 115,749,570 (GRCm39) |
E113D |
|
Het |
Myo7a |
T |
A |
7: 97,712,881 (GRCm39) |
H1698L |
probably benign |
Het |
Myocos |
T |
A |
1: 162,484,678 (GRCm39) |
M44L |
unknown |
Het |
Nalcn |
A |
G |
14: 123,551,499 (GRCm39) |
V1036A |
probably damaging |
Het |
Nfrkb |
C |
T |
9: 31,325,328 (GRCm39) |
Q924* |
probably null |
Het |
Nol6 |
A |
G |
4: 41,117,424 (GRCm39) |
L923P |
possibly damaging |
Het |
Nrxn3 |
T |
C |
12: 89,477,232 (GRCm39) |
Y472H |
probably damaging |
Het |
Nudcd1 |
A |
G |
15: 44,269,253 (GRCm39) |
Y136H |
possibly damaging |
Het |
Obox2 |
T |
C |
7: 15,131,241 (GRCm39) |
C116R |
probably damaging |
Het |
Onecut3 |
A |
T |
10: 80,331,310 (GRCm39) |
S157C |
unknown |
Het |
Or10ak11 |
A |
G |
4: 118,687,517 (GRCm39) |
V39A |
probably damaging |
Het |
Or11g27 |
T |
A |
14: 50,771,472 (GRCm39) |
V201D |
probably benign |
Het |
Or2d2b |
T |
A |
7: 106,705,982 (GRCm39) |
I29F |
probably benign |
Het |
Or4f15 |
T |
C |
2: 111,814,124 (GRCm39) |
I98M |
probably damaging |
Het |
Oscp1 |
C |
T |
4: 125,967,726 (GRCm39) |
R91* |
probably null |
Het |
Pclo |
A |
T |
5: 14,762,606 (GRCm39) |
D408V |
|
Het |
Pde8a |
T |
C |
7: 80,932,581 (GRCm39) |
V81A |
probably benign |
Het |
Pde8b |
T |
A |
13: 95,164,251 (GRCm39) |
D653V |
probably damaging |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pik3cg |
T |
C |
12: 32,245,647 (GRCm39) |
Y867C |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Psd4 |
A |
T |
2: 24,294,768 (GRCm39) |
D776V |
possibly damaging |
Het |
Ptprb |
A |
G |
10: 116,119,334 (GRCm39) |
E156G |
probably benign |
Het |
Rad54b |
A |
G |
4: 11,610,372 (GRCm39) |
Y663C |
probably damaging |
Het |
Ranbp3l |
T |
A |
15: 9,030,955 (GRCm39) |
V78D |
possibly damaging |
Het |
Rbm12 |
T |
C |
2: 155,940,138 (GRCm39) |
I45V |
unknown |
Het |
Scn9a |
A |
G |
2: 66,363,692 (GRCm39) |
V862A |
probably damaging |
Het |
Sdcbp |
T |
C |
4: 6,393,089 (GRCm39) |
I242T |
possibly damaging |
Het |
Slc25a24 |
A |
G |
3: 109,066,751 (GRCm39) |
T302A |
probably damaging |
Het |
Slc45a3 |
G |
T |
1: 131,904,549 (GRCm39) |
|
probably benign |
Het |
Srpk1 |
T |
C |
17: 28,813,192 (GRCm39) |
I517M |
probably benign |
Het |
Tmx4 |
A |
G |
2: 134,481,581 (GRCm39) |
M114T |
probably benign |
Het |
Trhr |
T |
A |
15: 44,092,627 (GRCm39) |
V288D |
probably damaging |
Het |
Tspoap1 |
A |
T |
11: 87,652,351 (GRCm39) |
I42F |
probably benign |
Het |
Ttn |
A |
T |
2: 76,781,856 (GRCm39) |
D1063E |
unknown |
Het |
Tusc3 |
A |
G |
8: 39,538,635 (GRCm39) |
I225V |
probably benign |
Het |
Ugt2b38 |
A |
G |
5: 87,571,973 (GRCm39) |
S20P |
probably damaging |
Het |
Upf2 |
A |
G |
2: 6,032,219 (GRCm39) |
T922A |
unknown |
Het |
Usp38 |
C |
T |
8: 81,741,190 (GRCm39) |
|
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,283,738 (GRCm39) |
I140M |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,371 (GRCm39) |
N419K |
possibly damaging |
Het |
Vmn2r55 |
C |
T |
7: 12,404,755 (GRCm39) |
G216D |
probably benign |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wnt7b |
C |
A |
15: 85,421,615 (GRCm39) |
R349L |
possibly damaging |
Het |
Xbp1 |
T |
C |
11: 5,471,098 (GRCm39) |
V35A |
probably benign |
Het |
Zan |
A |
T |
5: 137,445,057 (GRCm39) |
M1734K |
unknown |
Het |
Zfhx4 |
A |
G |
3: 5,477,237 (GRCm39) |
E3284G |
probably damaging |
Het |
Zfp458 |
A |
G |
13: 67,404,978 (GRCm39) |
L487S |
possibly damaging |
Het |
Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
probably damaging |
Het |
Zp1 |
A |
G |
19: 10,895,280 (GRCm39) |
L324P |
possibly 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 |
|
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'- ATAGACTGGTGCACACTCCAC -3'
(R):5'- GTGCCTTAGGTCATGCATCC -3'
Sequencing Primer
(F):5'- GTGCACACTCCACCGACTTG -3'
(R):5'- GGTCATGCATCCAAGAACATATGGC -3'
|
Posted On |
2019-10-07 |