Incidental Mutation 'R0124:Ankrd28'
ID |
21238 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd28
|
Ensembl Gene |
ENSMUSG00000014496 |
Gene Name |
ankyrin repeat domain 28 |
Synonyms |
E430019N21Rik |
MMRRC Submission |
038409-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R0124 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31449698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 481
(Y481H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
[ENSMUST00000227878]
|
AlphaFold |
Q505D1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014640
AA Change: Y451H
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000014640 Gene: ENSMUSG00000014496 AA Change: Y451H
Domain | Start | End | E-Value | Type |
ANK
|
7 |
36 |
5.69e2 |
SMART |
ANK
|
40 |
69 |
2.45e-4 |
SMART |
ANK
|
73 |
102 |
1.59e-3 |
SMART |
ANK
|
106 |
135 |
1.09e-1 |
SMART |
ANK
|
139 |
168 |
1.58e-7 |
SMART |
ANK
|
172 |
201 |
4.97e-5 |
SMART |
ANK
|
205 |
234 |
1.01e-5 |
SMART |
ANK
|
238 |
267 |
2.74e-7 |
SMART |
ANK
|
271 |
301 |
4.13e-2 |
SMART |
ANK
|
305 |
334 |
3.8e-1 |
SMART |
ANK
|
338 |
367 |
3.06e-5 |
SMART |
ANK
|
371 |
400 |
1.44e-1 |
SMART |
ANK
|
404 |
433 |
6.76e-7 |
SMART |
ANK
|
437 |
466 |
1.73e-4 |
SMART |
ANK
|
470 |
500 |
7.83e-3 |
SMART |
ANK
|
504 |
534 |
2.99e1 |
SMART |
ANK
|
549 |
578 |
1.34e-1 |
SMART |
ANK
|
582 |
611 |
3.76e-5 |
SMART |
ANK
|
616 |
645 |
4.13e-2 |
SMART |
ANK
|
652 |
681 |
1.24e-5 |
SMART |
ANK
|
685 |
714 |
4.5e-3 |
SMART |
ANK
|
718 |
747 |
1.93e-2 |
SMART |
ANK
|
755 |
784 |
2.85e-5 |
SMART |
ANK
|
787 |
818 |
2.15e0 |
SMART |
ANK
|
822 |
851 |
2.16e-5 |
SMART |
ANK
|
855 |
885 |
4.5e-3 |
SMART |
ANK
|
889 |
918 |
6.61e-1 |
SMART |
ANK
|
925 |
954 |
3.85e-2 |
SMART |
low complexity region
|
982 |
995 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227083
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227089
AA Change: Y297H
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227307
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227863
AA Change: Y481H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227878
|
Meta Mutation Damage Score |
0.4917 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 89.8%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,138,656 (GRCm39) |
T194A |
probably benign |
Het |
Afap1 |
C |
T |
5: 36,102,553 (GRCm39) |
P82S |
probably damaging |
Het |
Arid1b |
C |
T |
17: 5,389,605 (GRCm39) |
T1717I |
probably damaging |
Het |
Atad2b |
A |
G |
12: 5,002,676 (GRCm39) |
K348R |
probably benign |
Het |
Bcl3 |
C |
T |
7: 19,543,576 (GRCm39) |
V5M |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,118,725 (GRCm39) |
E2321G |
probably benign |
Het |
Casq1 |
C |
T |
1: 172,037,992 (GRCm39) |
V380M |
probably damaging |
Het |
Cd209e |
T |
A |
8: 3,901,274 (GRCm39) |
T127S |
probably benign |
Het |
Cdh23 |
G |
T |
10: 60,143,835 (GRCm39) |
Y2921* |
probably null |
Het |
Cdh6 |
A |
G |
15: 13,034,410 (GRCm39) |
L750P |
probably damaging |
Het |
Cdk12 |
T |
C |
11: 98,102,073 (GRCm39) |
|
probably benign |
Het |
Ces5a |
T |
C |
8: 94,255,183 (GRCm39) |
E170G |
probably damaging |
Het |
Clec4f |
A |
G |
6: 83,629,335 (GRCm39) |
|
probably null |
Het |
Col19a1 |
T |
C |
1: 24,565,539 (GRCm39) |
N264S |
unknown |
Het |
Col2a1 |
T |
A |
15: 97,896,743 (GRCm39) |
I43F |
unknown |
Het |
Col4a2 |
A |
G |
8: 11,458,871 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,454,112 (GRCm39) |
D3578V |
probably damaging |
Het |
Cyp2c37 |
T |
C |
19: 39,982,546 (GRCm39) |
L128P |
probably damaging |
Het |
Dennd2b |
A |
G |
7: 109,141,718 (GRCm39) |
S132P |
possibly damaging |
Het |
Dysf |
A |
G |
6: 84,042,084 (GRCm39) |
|
probably benign |
Het |
Eml1 |
T |
C |
12: 108,472,867 (GRCm39) |
V225A |
probably benign |
Het |
Eml1 |
A |
G |
12: 108,475,437 (GRCm39) |
Y256C |
probably damaging |
Het |
Epb41l5 |
T |
A |
1: 119,561,370 (GRCm39) |
K64* |
probably null |
Het |
Fat2 |
A |
G |
11: 55,174,504 (GRCm39) |
F2070L |
probably damaging |
Het |
Fbxw18 |
G |
T |
9: 109,520,583 (GRCm39) |
H259N |
probably benign |
Het |
Gm10764 |
A |
T |
10: 87,126,610 (GRCm39) |
T6S |
unknown |
Het |
Gm14412 |
A |
G |
2: 177,007,705 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,133,646 (GRCm39) |
|
probably benign |
Het |
Hid1 |
T |
C |
11: 115,247,649 (GRCm39) |
T250A |
probably damaging |
Het |
Hnf4g |
A |
G |
3: 3,708,142 (GRCm39) |
|
probably benign |
Het |
Ifnar1 |
C |
T |
16: 91,296,425 (GRCm39) |
Q309* |
probably null |
Het |
Lrriq1 |
C |
T |
10: 103,006,281 (GRCm39) |
|
probably null |
Het |
Map3k13 |
A |
G |
16: 21,722,506 (GRCm39) |
T223A |
possibly damaging |
Het |
Matn2 |
C |
T |
15: 34,426,297 (GRCm39) |
|
probably benign |
Het |
Myo6 |
A |
G |
9: 80,215,056 (GRCm39) |
E1253G |
probably damaging |
Het |
Nomo1 |
G |
T |
7: 45,732,652 (GRCm39) |
|
probably benign |
Het |
Or1ak2 |
A |
T |
2: 36,827,268 (GRCm39) |
I46F |
possibly damaging |
Het |
Or4c116 |
A |
T |
2: 88,942,088 (GRCm39) |
I256K |
possibly damaging |
Het |
Or8a1b |
A |
G |
9: 37,622,759 (GRCm39) |
V272A |
possibly damaging |
Het |
Papolg |
C |
T |
11: 23,817,535 (GRCm39) |
A582T |
probably benign |
Het |
Plekhm3 |
C |
T |
1: 64,960,910 (GRCm39) |
E449K |
probably damaging |
Het |
Pole |
T |
G |
5: 110,451,858 (GRCm39) |
M900R |
probably damaging |
Het |
Ppp1cb |
T |
A |
5: 32,640,822 (GRCm39) |
|
probably benign |
Het |
Pramel17 |
A |
G |
4: 101,692,570 (GRCm39) |
*477Q |
probably null |
Het |
Pros1 |
A |
G |
16: 62,734,309 (GRCm39) |
T372A |
possibly damaging |
Het |
Scara3 |
A |
T |
14: 66,168,670 (GRCm39) |
S316T |
probably benign |
Het |
Stau2 |
C |
T |
1: 16,533,352 (GRCm39) |
A61T |
probably damaging |
Het |
Stx3 |
T |
C |
19: 11,769,163 (GRCm39) |
E54G |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,232,434 (GRCm39) |
|
probably benign |
Het |
Swt1 |
A |
T |
1: 151,267,280 (GRCm39) |
C634S |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,494,842 (GRCm39) |
Y269C |
probably damaging |
Het |
Tfap2a |
G |
A |
13: 40,870,887 (GRCm39) |
|
probably benign |
Het |
Tmx4 |
A |
T |
2: 134,481,640 (GRCm39) |
|
probably null |
Het |
Ttc39d |
T |
C |
17: 80,524,375 (GRCm39) |
C345R |
probably damaging |
Het |
Vmn1r27 |
T |
C |
6: 58,192,233 (GRCm39) |
Y257C |
probably damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,208,578 (GRCm39) |
T56S |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,576,674 (GRCm39) |
|
probably null |
Het |
Wdr17 |
A |
G |
8: 55,088,526 (GRCm39) |
S1175P |
probably damaging |
Het |
Wsb2 |
T |
C |
5: 117,501,823 (GRCm39) |
F63L |
probably benign |
Het |
Zfp142 |
A |
G |
1: 74,607,782 (GRCm39) |
Y1561H |
probably damaging |
Het |
|
Other mutations in Ankrd28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00769:Ankrd28
|
APN |
14 |
31,465,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01335:Ankrd28
|
APN |
14 |
31,423,981 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01564:Ankrd28
|
APN |
14 |
31,477,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01624:Ankrd28
|
APN |
14 |
31,432,814 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01987:Ankrd28
|
APN |
14 |
31,500,931 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02100:Ankrd28
|
APN |
14 |
31,449,582 (GRCm39) |
unclassified |
probably benign |
|
IGL02307:Ankrd28
|
APN |
14 |
31,455,665 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02656:Ankrd28
|
APN |
14 |
31,424,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03069:Ankrd28
|
APN |
14 |
31,477,743 (GRCm39) |
nonsense |
probably null |
|
G1citation:Ankrd28
|
UTSW |
14 |
31,458,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0038:Ankrd28
|
UTSW |
14 |
31,429,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R0038:Ankrd28
|
UTSW |
14 |
31,429,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R0347:Ankrd28
|
UTSW |
14 |
31,423,979 (GRCm39) |
makesense |
probably null |
|
R0452:Ankrd28
|
UTSW |
14 |
31,470,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0685:Ankrd28
|
UTSW |
14 |
31,465,407 (GRCm39) |
unclassified |
probably benign |
|
R0751:Ankrd28
|
UTSW |
14 |
31,486,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R1349:Ankrd28
|
UTSW |
14 |
31,467,218 (GRCm39) |
missense |
probably benign |
0.05 |
R1372:Ankrd28
|
UTSW |
14 |
31,467,218 (GRCm39) |
missense |
probably benign |
0.05 |
R1695:Ankrd28
|
UTSW |
14 |
31,429,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Ankrd28
|
UTSW |
14 |
31,453,982 (GRCm39) |
splice site |
probably benign |
|
R1938:Ankrd28
|
UTSW |
14 |
31,427,233 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2001:Ankrd28
|
UTSW |
14 |
31,467,293 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2162:Ankrd28
|
UTSW |
14 |
31,430,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R2352:Ankrd28
|
UTSW |
14 |
31,432,904 (GRCm39) |
missense |
probably benign |
0.05 |
R2357:Ankrd28
|
UTSW |
14 |
31,486,251 (GRCm39) |
nonsense |
probably null |
|
R3545:Ankrd28
|
UTSW |
14 |
31,437,217 (GRCm39) |
missense |
probably benign |
0.13 |
R3548:Ankrd28
|
UTSW |
14 |
31,437,217 (GRCm39) |
missense |
probably benign |
0.13 |
R3710:Ankrd28
|
UTSW |
14 |
31,470,808 (GRCm39) |
splice site |
probably benign |
|
R4282:Ankrd28
|
UTSW |
14 |
31,467,182 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4501:Ankrd28
|
UTSW |
14 |
31,428,753 (GRCm39) |
missense |
probably damaging |
0.97 |
R4513:Ankrd28
|
UTSW |
14 |
31,465,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:Ankrd28
|
UTSW |
14 |
31,432,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.43 |
R4732:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.43 |
R4733:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.43 |
R4776:Ankrd28
|
UTSW |
14 |
31,454,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R4801:Ankrd28
|
UTSW |
14 |
31,458,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Ankrd28
|
UTSW |
14 |
31,458,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:Ankrd28
|
UTSW |
14 |
31,456,963 (GRCm39) |
missense |
probably damaging |
0.99 |
R5633:Ankrd28
|
UTSW |
14 |
31,457,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R5809:Ankrd28
|
UTSW |
14 |
31,465,311 (GRCm39) |
missense |
probably benign |
0.19 |
R5959:Ankrd28
|
UTSW |
14 |
31,451,879 (GRCm39) |
missense |
probably benign |
0.16 |
R6228:Ankrd28
|
UTSW |
14 |
31,429,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R6358:Ankrd28
|
UTSW |
14 |
31,432,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R6533:Ankrd28
|
UTSW |
14 |
31,454,041 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6598:Ankrd28
|
UTSW |
14 |
31,430,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6822:Ankrd28
|
UTSW |
14 |
31,458,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7352:Ankrd28
|
UTSW |
14 |
31,429,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7396:Ankrd28
|
UTSW |
14 |
31,424,159 (GRCm39) |
missense |
probably benign |
0.00 |
R7462:Ankrd28
|
UTSW |
14 |
31,500,886 (GRCm39) |
missense |
probably benign |
0.40 |
R7517:Ankrd28
|
UTSW |
14 |
31,437,331 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7629:Ankrd28
|
UTSW |
14 |
31,437,221 (GRCm39) |
missense |
probably benign |
0.00 |
R7783:Ankrd28
|
UTSW |
14 |
31,428,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R7981:Ankrd28
|
UTSW |
14 |
31,424,114 (GRCm39) |
missense |
probably benign |
0.08 |
R8401:Ankrd28
|
UTSW |
14 |
31,467,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R8483:Ankrd28
|
UTSW |
14 |
31,457,048 (GRCm39) |
splice site |
probably null |
|
R8752:Ankrd28
|
UTSW |
14 |
31,477,699 (GRCm39) |
start gained |
probably benign |
|
R8946:Ankrd28
|
UTSW |
14 |
31,430,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.06 |
R9064:Ankrd28
|
UTSW |
14 |
31,454,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R9181:Ankrd28
|
UTSW |
14 |
31,470,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Ankrd28
|
UTSW |
14 |
31,429,234 (GRCm39) |
missense |
possibly damaging |
0.91 |
RF010:Ankrd28
|
UTSW |
14 |
31,500,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2013-04-11 |