Incidental Mutation 'R9181:Ankrd28'
| ID |
697042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd28
|
| Ensembl Gene |
ENSMUSG00000014496 |
| Gene Name |
ankyrin repeat domain 28 |
| Synonyms |
E430019N21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R9181 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 31470627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 145
(H145Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
[ENSMUST00000228037]
|
| AlphaFold |
Q505D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014640
AA Change: H145Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: H145Q
| 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 |
probably benign
Transcript: ENSMUST00000227089
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227863
AA Change: H175Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228037
AA Change: H117Q
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
G |
T |
5: 105,121,962 (GRCm39) |
D138E |
probably benign |
Het |
| Acvr2a |
T |
A |
2: 48,760,307 (GRCm39) |
I21K |
probably damaging |
Het |
| Adam30 |
C |
G |
3: 98,070,194 (GRCm39) |
P676A |
probably benign |
Het |
| Ap3m2 |
A |
G |
8: 23,289,774 (GRCm39) |
Y110H |
probably damaging |
Het |
| Apoc4 |
A |
G |
7: 19,412,665 (GRCm39) |
S27P |
possibly damaging |
Het |
| Bbs1 |
A |
C |
19: 4,941,070 (GRCm39) |
L548R |
possibly damaging |
Het |
| Cfap99 |
A |
T |
5: 34,471,602 (GRCm39) |
D346V |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,189,870 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,703,612 (GRCm39) |
K436E |
possibly damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,462,206 (GRCm39) |
V105A |
possibly damaging |
Het |
| Disp2 |
T |
A |
2: 118,617,393 (GRCm39) |
V129E |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,181,194 (GRCm39) |
V1027A |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,231,818 (GRCm39) |
I3137N |
probably benign |
Het |
| F5 |
A |
G |
1: 164,019,895 (GRCm39) |
D790G |
probably benign |
Het |
| Fan1 |
A |
G |
7: 64,016,400 (GRCm39) |
S575P |
probably damaging |
Het |
| Gemin5 |
C |
T |
11: 58,021,035 (GRCm39) |
A1051T |
probably benign |
Het |
| Gsta4 |
A |
G |
9: 78,105,597 (GRCm39) |
Y9C |
probably damaging |
Het |
| H2-M3 |
C |
A |
17: 37,583,172 (GRCm39) |
A211E |
probably damaging |
Het |
| Ifna1 |
A |
T |
4: 88,768,453 (GRCm39) |
M44L |
probably benign |
Het |
| Ildr2 |
A |
T |
1: 166,122,283 (GRCm39) |
D242V |
probably damaging |
Het |
| Kif27 |
G |
T |
13: 58,492,543 (GRCm39) |
Q199K |
probably damaging |
Het |
| Lmf1 |
T |
A |
17: 25,804,718 (GRCm39) |
L132H |
probably damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,803,241 (GRCm39) |
N173S |
probably benign |
Het |
| Mettl25b |
A |
G |
3: 87,835,392 (GRCm39) |
|
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,225,123 (GRCm39) |
N446Y |
probably benign |
Het |
| Minar1 |
A |
G |
9: 89,485,394 (GRCm39) |
M1T |
probably null |
Het |
| Mocs1 |
T |
A |
17: 49,756,801 (GRCm39) |
M261K |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,524,108 (GRCm39) |
F457L |
probably damaging |
Het |
| Nlrp4e |
C |
T |
7: 23,061,270 (GRCm39) |
R954* |
probably null |
Het |
| Or4s2 |
T |
C |
2: 88,473,348 (GRCm39) |
M79T |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,141,109 (GRCm39) |
I261M |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,318 (GRCm39) |
I1576N |
probably damaging |
Het |
| Plekhg6 |
A |
C |
6: 125,355,854 (GRCm39) |
|
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,283,365 (GRCm39) |
L388P |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,104,421 (GRCm39) |
I818N |
probably damaging |
Het |
| Pramel46 |
A |
T |
5: 95,418,414 (GRCm39) |
V194D |
probably benign |
Het |
| Radil |
A |
G |
5: 142,480,722 (GRCm39) |
Y578H |
probably damaging |
Het |
| Retnlb |
A |
G |
16: 48,639,084 (GRCm39) |
D95G |
probably damaging |
Het |
| Rufy2 |
A |
T |
10: 62,836,166 (GRCm39) |
Y365F |
possibly damaging |
Het |
| Ssc5d |
A |
G |
7: 4,945,814 (GRCm39) |
T949A |
possibly damaging |
Het |
| Svil |
C |
A |
18: 5,090,833 (GRCm39) |
R1312S |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,063,994 (GRCm39) |
T7142A |
probably damaging |
Het |
| Tert |
A |
T |
13: 73,785,294 (GRCm39) |
|
probably benign |
Het |
| Tpbgl |
A |
T |
7: 99,274,776 (GRCm39) |
D360E |
probably damaging |
Het |
| Traj13 |
G |
A |
14: 54,443,248 (GRCm39) |
V17I |
unknown |
Het |
| Trim13 |
G |
A |
14: 61,842,046 (GRCm39) |
R21Q |
possibly damaging |
Het |
| Wdr36 |
T |
C |
18: 32,981,382 (GRCm39) |
V357A |
possibly damaging |
Het |
| Xdh |
G |
A |
17: 74,232,006 (GRCm39) |
R235C |
probably damaging |
Het |
| Zfp971 |
T |
C |
2: 177,674,736 (GRCm39) |
F112L |
probably damaging |
Het |
| Znfx1 |
C |
T |
2: 166,879,738 (GRCm39) |
C1546Y |
probably damaging |
Het |
| Znfx1 |
T |
A |
2: 166,880,137 (GRCm39) |
E1413V |
probably benign |
Het |
| Zscan4c |
A |
G |
7: 10,743,741 (GRCm39) |
M447V |
probably benign |
Het |
| Zyx |
T |
A |
6: 42,334,818 (GRCm39) |
D541E |
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 |
|
R0124:Ankrd28
|
UTSW |
14 |
31,449,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
PCR Primer
(F):5'- GCACTTCCTTGACAATGACAG -3'
(R):5'- GGAAGCAGTTCAGATACTTTTGAAGC -3'
Sequencing Primer
(F):5'- TTGGACCACTTACATCACTGGAG -3'
(R):5'- CATTCTGCAGATGTTAATGCTCGAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation