Incidental Mutation 'R5344:Ankrd12'
| ID |
422531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd12
|
| Ensembl Gene |
ENSMUSG00000034647 |
| Gene Name |
ankyrin repeat domain 12 |
| Synonyms |
GAC-1, ANCO-2, 2900001A12Rik |
| MMRRC Submission |
042923-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.376)
|
| Stock # |
R5344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66272693-66384084 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66356843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 58
(M58K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038116]
[ENSMUST00000150766]
|
| AlphaFold |
G5E893 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038116
AA Change: M58K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: M58K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
|
ANK
|
184 |
213 |
8.78e-6 |
SMART |
|
ANK
|
217 |
246 |
1.76e-5 |
SMART |
|
ANK
|
250 |
279 |
7.64e-6 |
SMART |
|
low complexity region
|
292 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
coiled coil region
|
459 |
497 |
N/A |
INTRINSIC |
|
coiled coil region
|
639 |
676 |
N/A |
INTRINSIC |
|
coiled coil region
|
725 |
752 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
999 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1182 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1771 |
1783 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143516
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150766
AA Change: M58K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114237
Gene: ENSMUSG00000034647
AA Change: M58K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
98 |
N/A |
INTRINSIC |
|
ANK
|
161 |
190 |
8.78e-6 |
SMART |
|
ANK
|
194 |
223 |
1.76e-5 |
SMART |
|
ANK
|
227 |
256 |
7.64e-6 |
SMART |
|
low complexity region
|
269 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
393 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2941 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,289,801 (GRCm39) |
C1499G |
probably benign |
Het |
| Aldoart1 |
A |
G |
4: 72,770,352 (GRCm39) |
V152A |
possibly damaging |
Het |
| Alms1 |
T |
C |
6: 85,673,771 (GRCm39) |
L3591P |
probably benign |
Het |
| Asb3 |
A |
C |
11: 31,051,114 (GRCm39) |
I523L |
probably benign |
Het |
| Ascl2 |
T |
C |
7: 142,522,436 (GRCm39) |
H4R |
possibly damaging |
Het |
| Asic2 |
T |
C |
11: 80,862,413 (GRCm39) |
M246V |
probably damaging |
Het |
| Btc |
A |
T |
5: 91,524,779 (GRCm39) |
C53S |
possibly damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,856,437 (GRCm39) |
I39M |
probably damaging |
Het |
| Cdkn3 |
T |
A |
14: 47,004,807 (GRCm39) |
M123K |
possibly damaging |
Het |
| Cebpz |
A |
G |
17: 79,233,542 (GRCm39) |
Y762H |
possibly damaging |
Het |
| Ces1g |
T |
A |
8: 94,063,821 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,236,763 (GRCm39) |
|
probably null |
Het |
| Chd7 |
G |
T |
4: 8,844,417 (GRCm39) |
G1537W |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,793,703 (GRCm39) |
D317E |
probably damaging |
Het |
| Clec3a |
C |
A |
8: 115,149,712 (GRCm39) |
N56K |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 114,002,011 (GRCm39) |
|
probably null |
Het |
| Cox20 |
G |
A |
1: 178,149,598 (GRCm39) |
|
probably benign |
Het |
| Cyp2d22 |
A |
G |
15: 82,255,839 (GRCm39) |
V471A |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,135,163 (GRCm39) |
V1339A |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,112,352 (GRCm39) |
D1278G |
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,450,614 (GRCm39) |
P284L |
probably benign |
Het |
| Evi5l |
G |
T |
8: 4,235,990 (GRCm39) |
R61L |
possibly damaging |
Het |
| Fbln2 |
T |
C |
6: 91,243,365 (GRCm39) |
Y914H |
probably damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,238,030 (GRCm39) |
S191P |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,809,569 (GRCm39) |
I567T |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,262,117 (GRCm39) |
R550K |
probably damaging |
Het |
| Gpcpd1 |
G |
A |
2: 132,400,597 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,481,739 (GRCm39) |
I3096T |
probably benign |
Het |
| Hic2 |
T |
A |
16: 17,075,712 (GRCm39) |
D180E |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,617,057 (GRCm39) |
F172L |
possibly damaging |
Het |
| Itga1 |
A |
G |
13: 115,138,845 (GRCm39) |
S369P |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,880,575 (GRCm39) |
R675Q |
probably null |
Het |
| Lrrc3b |
T |
C |
14: 15,358,591 (GRCm38) |
D5G |
probably damaging |
Het |
| Maml3 |
T |
A |
3: 52,011,146 (GRCm39) |
D140V |
probably damaging |
Het |
| Med21 |
A |
G |
6: 146,550,683 (GRCm39) |
T65A |
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,095,186 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,406,430 (GRCm39) |
D152G |
probably damaging |
Het |
| Oas1b |
C |
A |
5: 120,960,269 (GRCm39) |
Q325K |
probably benign |
Het |
| Or10j27 |
A |
G |
1: 172,958,673 (GRCm39) |
L37P |
probably benign |
Het |
| Or2n1c |
C |
A |
17: 38,519,995 (GRCm39) |
N286K |
probably damaging |
Het |
| Or5d44 |
A |
C |
2: 88,141,334 (GRCm39) |
C269G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,726,626 (GRCm39) |
|
probably benign |
Het |
| Phactr2 |
C |
T |
10: 13,129,360 (GRCm39) |
V233I |
possibly damaging |
Het |
| Plekha2 |
A |
T |
8: 25,533,063 (GRCm39) |
|
probably null |
Het |
| Reg3b |
A |
G |
6: 78,349,843 (GRCm39) |
M128V |
probably benign |
Het |
| Rnaseh2a |
A |
G |
8: 85,684,735 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,363,073 (GRCm39) |
S516G |
probably benign |
Het |
| Serpina12 |
T |
A |
12: 104,001,807 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
T |
C |
12: 81,000,540 (GRCm39) |
T320A |
possibly damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,519,402 (GRCm39) |
D539E |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,007 (GRCm39) |
R485S |
possibly damaging |
Het |
| Srp54b |
T |
G |
12: 55,302,366 (GRCm39) |
I339S |
probably damaging |
Het |
| Tada1 |
G |
A |
1: 166,207,081 (GRCm39) |
|
probably benign |
Het |
| Trim16 |
T |
C |
11: 62,711,751 (GRCm39) |
C54R |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,735,618 (GRCm39) |
R2824Q |
probably benign |
Het |
| Ttpa |
A |
G |
4: 20,021,245 (GRCm39) |
I138V |
probably damaging |
Het |
| Ubap2 |
A |
C |
4: 41,251,578 (GRCm39) |
M18R |
possibly damaging |
Het |
| Usp38 |
A |
G |
8: 81,712,392 (GRCm39) |
S548P |
possibly damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,525,046 (GRCm39) |
D34G |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,904,904 (GRCm39) |
H74L |
probably damaging |
Het |
| Zfp408 |
C |
T |
2: 91,475,588 (GRCm39) |
C622Y |
probably benign |
Het |
| Zfp616 |
T |
C |
11: 73,975,321 (GRCm39) |
I530T |
possibly damaging |
Het |
| Zfp9 |
C |
A |
6: 118,442,140 (GRCm39) |
C174F |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,658,096 (GRCm39) |
I605T |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,031,519 (GRCm39) |
T530A |
probably damaging |
Het |
|
| Other mutations in Ankrd12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Ankrd12
|
APN |
17 |
66,293,169 (GRCm39) |
missense |
probably benign |
|
|
IGL00555:Ankrd12
|
APN |
17 |
66,291,971 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL00790:Ankrd12
|
APN |
17 |
66,291,175 (GRCm39) |
missense |
probably benign |
|
|
IGL00808:Ankrd12
|
APN |
17 |
66,290,960 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01355:Ankrd12
|
APN |
17 |
66,277,335 (GRCm39) |
splice site |
probably benign |
|
|
IGL01707:Ankrd12
|
APN |
17 |
66,291,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02045:Ankrd12
|
APN |
17 |
66,293,244 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02125:Ankrd12
|
APN |
17 |
66,277,139 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02292:Ankrd12
|
APN |
17 |
66,349,582 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02376:Ankrd12
|
APN |
17 |
66,349,524 (GRCm39) |
intron |
probably benign |
|
|
IGL02435:Ankrd12
|
APN |
17 |
66,294,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02530:Ankrd12
|
APN |
17 |
66,291,398 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0048:Ankrd12
|
UTSW |
17 |
66,291,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Ankrd12
|
UTSW |
17 |
66,291,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0094:Ankrd12
|
UTSW |
17 |
66,277,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Ankrd12
|
UTSW |
17 |
66,356,943 (GRCm39) |
splice site |
probably null |
|
|
R0227:Ankrd12
|
UTSW |
17 |
66,294,222 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0363:Ankrd12
|
UTSW |
17 |
66,292,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Ankrd12
|
UTSW |
17 |
66,291,501 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0376:Ankrd12
|
UTSW |
17 |
66,360,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0470:Ankrd12
|
UTSW |
17 |
66,293,129 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0480:Ankrd12
|
UTSW |
17 |
66,356,823 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0538:Ankrd12
|
UTSW |
17 |
66,356,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Ankrd12
|
UTSW |
17 |
66,292,127 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1181:Ankrd12
|
UTSW |
17 |
66,349,569 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1386:Ankrd12
|
UTSW |
17 |
66,290,375 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1476:Ankrd12
|
UTSW |
17 |
66,293,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Ankrd12
|
UTSW |
17 |
66,293,269 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1574:Ankrd12
|
UTSW |
17 |
66,293,269 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1602:Ankrd12
|
UTSW |
17 |
66,290,683 (GRCm39) |
nonsense |
probably null |
|
|
R1728:Ankrd12
|
UTSW |
17 |
66,291,071 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1729:Ankrd12
|
UTSW |
17 |
66,291,071 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1784:Ankrd12
|
UTSW |
17 |
66,291,071 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1795:Ankrd12
|
UTSW |
17 |
66,293,222 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1901:Ankrd12
|
UTSW |
17 |
66,293,698 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1929:Ankrd12
|
UTSW |
17 |
66,293,681 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1952:Ankrd12
|
UTSW |
17 |
66,338,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1997:Ankrd12
|
UTSW |
17 |
66,291,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:Ankrd12
|
UTSW |
17 |
66,338,569 (GRCm39) |
splice site |
probably null |
|
|
R3612:Ankrd12
|
UTSW |
17 |
66,290,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3768:Ankrd12
|
UTSW |
17 |
66,292,715 (GRCm39) |
missense |
probably benign |
|
|
R3909:Ankrd12
|
UTSW |
17 |
66,291,000 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3945:Ankrd12
|
UTSW |
17 |
66,283,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Ankrd12
|
UTSW |
17 |
66,334,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4461:Ankrd12
|
UTSW |
17 |
66,292,932 (GRCm39) |
splice site |
probably null |
|
|
R4628:Ankrd12
|
UTSW |
17 |
66,292,989 (GRCm39) |
missense |
probably benign |
|
|
R4726:Ankrd12
|
UTSW |
17 |
66,277,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Ankrd12
|
UTSW |
17 |
66,289,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Ankrd12
|
UTSW |
17 |
66,291,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4847:Ankrd12
|
UTSW |
17 |
66,331,087 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4858:Ankrd12
|
UTSW |
17 |
66,338,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5749:Ankrd12
|
UTSW |
17 |
66,293,091 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7132:Ankrd12
|
UTSW |
17 |
66,290,242 (GRCm39) |
missense |
probably benign |
|
|
R7205:Ankrd12
|
UTSW |
17 |
66,292,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7379:Ankrd12
|
UTSW |
17 |
66,292,242 (GRCm39) |
nonsense |
probably null |
|
|
R7569:Ankrd12
|
UTSW |
17 |
66,289,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Ankrd12
|
UTSW |
17 |
66,292,355 (GRCm39) |
missense |
probably benign |
|
|
R7783:Ankrd12
|
UTSW |
17 |
66,334,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7790:Ankrd12
|
UTSW |
17 |
66,291,225 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7808:Ankrd12
|
UTSW |
17 |
66,292,648 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7834:Ankrd12
|
UTSW |
17 |
66,294,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Ankrd12
|
UTSW |
17 |
66,292,680 (GRCm39) |
nonsense |
probably null |
|
|
R7985:Ankrd12
|
UTSW |
17 |
66,291,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8251:Ankrd12
|
UTSW |
17 |
66,291,554 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8304:Ankrd12
|
UTSW |
17 |
66,291,542 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8379:Ankrd12
|
UTSW |
17 |
66,290,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8441:Ankrd12
|
UTSW |
17 |
66,349,546 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8485:Ankrd12
|
UTSW |
17 |
66,290,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8507:Ankrd12
|
UTSW |
17 |
66,293,904 (GRCm39) |
nonsense |
probably null |
|
|
R8677:Ankrd12
|
UTSW |
17 |
66,331,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Ankrd12
|
UTSW |
17 |
66,290,153 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8888:Ankrd12
|
UTSW |
17 |
66,338,568 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8944:Ankrd12
|
UTSW |
17 |
66,277,195 (GRCm39) |
nonsense |
probably null |
|
|
R8957:Ankrd12
|
UTSW |
17 |
66,291,491 (GRCm39) |
missense |
probably benign |
|
|
R9069:Ankrd12
|
UTSW |
17 |
66,356,874 (GRCm39) |
missense |
probably benign |
|
|
R9226:Ankrd12
|
UTSW |
17 |
66,292,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9275:Ankrd12
|
UTSW |
17 |
66,344,599 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9278:Ankrd12
|
UTSW |
17 |
66,344,599 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9339:Ankrd12
|
UTSW |
17 |
66,291,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Ankrd12
|
UTSW |
17 |
66,291,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9581:Ankrd12
|
UTSW |
17 |
66,290,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ankrd12
|
UTSW |
17 |
66,277,333 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCCACCAGGATAAAACTG -3'
(R):5'- CCTGCGTATACATGAATATACCTTC -3'
Sequencing Primer
(F):5'- GCCACCAGGATAAAACTGAACAGTAG -3'
(R):5'- TGTGCAGTGCCCAAGTACATC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation