Incidental Mutation 'R1137:Ahdc1'
ID |
95132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ahdc1
|
Ensembl Gene |
ENSMUSG00000037692 |
Gene Name |
AT hook, DNA binding motif, containing 1 |
Synonyms |
D030015G18Rik |
MMRRC Submission |
039210-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
R1137 (G1)
|
Quality Score |
163 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
132738797-132805421 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 132789424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 222
(T222A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044521]
[ENSMUST00000105914]
[ENSMUST00000105915]
[ENSMUST00000105916]
|
AlphaFold |
Q6PAL7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044521
AA Change: T222A
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000047113 Gene: ENSMUSG00000037692 AA Change: T222A
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
low complexity region
|
207 |
234 |
N/A |
INTRINSIC |
low complexity region
|
259 |
279 |
N/A |
INTRINSIC |
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
low complexity region
|
327 |
341 |
N/A |
INTRINSIC |
low complexity region
|
369 |
379 |
N/A |
INTRINSIC |
AT_hook
|
395 |
407 |
2.04e2 |
SMART |
low complexity region
|
418 |
446 |
N/A |
INTRINSIC |
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
AT_hook
|
541 |
553 |
5.47e-1 |
SMART |
low complexity region
|
661 |
685 |
N/A |
INTRINSIC |
low complexity region
|
696 |
714 |
N/A |
INTRINSIC |
low complexity region
|
770 |
785 |
N/A |
INTRINSIC |
low complexity region
|
805 |
820 |
N/A |
INTRINSIC |
low complexity region
|
836 |
857 |
N/A |
INTRINSIC |
low complexity region
|
963 |
974 |
N/A |
INTRINSIC |
low complexity region
|
1003 |
1028 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1084 |
N/A |
INTRINSIC |
low complexity region
|
1153 |
1168 |
N/A |
INTRINSIC |
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
low complexity region
|
1243 |
1251 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1271 |
N/A |
INTRINSIC |
low complexity region
|
1422 |
1436 |
N/A |
INTRINSIC |
low complexity region
|
1513 |
1528 |
N/A |
INTRINSIC |
low complexity region
|
1566 |
1579 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105914
AA Change: T222A
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101534 Gene: ENSMUSG00000037692 AA Change: T222A
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
low complexity region
|
207 |
234 |
N/A |
INTRINSIC |
low complexity region
|
259 |
279 |
N/A |
INTRINSIC |
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
low complexity region
|
327 |
341 |
N/A |
INTRINSIC |
low complexity region
|
369 |
379 |
N/A |
INTRINSIC |
AT_hook
|
395 |
407 |
2.04e2 |
SMART |
low complexity region
|
418 |
446 |
N/A |
INTRINSIC |
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
AT_hook
|
541 |
553 |
5.47e-1 |
SMART |
Pfam:DUF4683
|
559 |
639 |
6.4e-15 |
PFAM |
low complexity region
|
661 |
685 |
N/A |
INTRINSIC |
low complexity region
|
696 |
714 |
N/A |
INTRINSIC |
low complexity region
|
770 |
785 |
N/A |
INTRINSIC |
low complexity region
|
805 |
820 |
N/A |
INTRINSIC |
low complexity region
|
836 |
857 |
N/A |
INTRINSIC |
low complexity region
|
963 |
974 |
N/A |
INTRINSIC |
low complexity region
|
1003 |
1028 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1084 |
N/A |
INTRINSIC |
low complexity region
|
1153 |
1168 |
N/A |
INTRINSIC |
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
low complexity region
|
1243 |
1251 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1271 |
N/A |
INTRINSIC |
low complexity region
|
1422 |
1436 |
N/A |
INTRINSIC |
low complexity region
|
1513 |
1528 |
N/A |
INTRINSIC |
low complexity region
|
1566 |
1579 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105915
AA Change: T222A
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101535 Gene: ENSMUSG00000037692 AA Change: T222A
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
low complexity region
|
207 |
234 |
N/A |
INTRINSIC |
low complexity region
|
259 |
279 |
N/A |
INTRINSIC |
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
low complexity region
|
327 |
341 |
N/A |
INTRINSIC |
low complexity region
|
369 |
379 |
N/A |
INTRINSIC |
AT_hook
|
395 |
407 |
2.04e2 |
SMART |
low complexity region
|
418 |
446 |
N/A |
INTRINSIC |
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
AT_hook
|
541 |
553 |
5.47e-1 |
SMART |
low complexity region
|
661 |
685 |
N/A |
INTRINSIC |
low complexity region
|
696 |
714 |
N/A |
INTRINSIC |
low complexity region
|
770 |
785 |
N/A |
INTRINSIC |
low complexity region
|
805 |
820 |
N/A |
INTRINSIC |
low complexity region
|
836 |
857 |
N/A |
INTRINSIC |
low complexity region
|
963 |
974 |
N/A |
INTRINSIC |
low complexity region
|
1003 |
1028 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1084 |
N/A |
INTRINSIC |
low complexity region
|
1153 |
1168 |
N/A |
INTRINSIC |
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
low complexity region
|
1243 |
1251 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1271 |
N/A |
INTRINSIC |
low complexity region
|
1422 |
1436 |
N/A |
INTRINSIC |
low complexity region
|
1513 |
1528 |
N/A |
INTRINSIC |
low complexity region
|
1566 |
1579 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105916
AA Change: T222A
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101536 Gene: ENSMUSG00000037692 AA Change: T222A
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
low complexity region
|
207 |
234 |
N/A |
INTRINSIC |
low complexity region
|
259 |
279 |
N/A |
INTRINSIC |
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
low complexity region
|
327 |
341 |
N/A |
INTRINSIC |
low complexity region
|
369 |
379 |
N/A |
INTRINSIC |
AT_hook
|
395 |
407 |
2.04e2 |
SMART |
low complexity region
|
418 |
446 |
N/A |
INTRINSIC |
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
AT_hook
|
541 |
553 |
5.47e-1 |
SMART |
low complexity region
|
661 |
685 |
N/A |
INTRINSIC |
low complexity region
|
696 |
714 |
N/A |
INTRINSIC |
low complexity region
|
770 |
785 |
N/A |
INTRINSIC |
low complexity region
|
805 |
820 |
N/A |
INTRINSIC |
low complexity region
|
836 |
857 |
N/A |
INTRINSIC |
low complexity region
|
963 |
974 |
N/A |
INTRINSIC |
low complexity region
|
1003 |
1028 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1084 |
N/A |
INTRINSIC |
low complexity region
|
1153 |
1168 |
N/A |
INTRINSIC |
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
low complexity region
|
1243 |
1251 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1271 |
N/A |
INTRINSIC |
low complexity region
|
1422 |
1436 |
N/A |
INTRINSIC |
low complexity region
|
1513 |
1528 |
N/A |
INTRINSIC |
low complexity region
|
1566 |
1579 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135548
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142524
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148518
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156677
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154482
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154646
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410002F23Rik |
T |
A |
7: 43,900,256 (GRCm39) |
S54T |
probably benign |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,832,760 (GRCm39) |
K1561E |
probably benign |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Clca4a |
A |
G |
3: 144,676,446 (GRCm39) |
V78A |
probably damaging |
Het |
Clec4n |
G |
A |
6: 123,223,526 (GRCm39) |
M170I |
possibly damaging |
Het |
Cp |
G |
T |
3: 20,033,116 (GRCm39) |
A648S |
probably benign |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Dnah8 |
A |
G |
17: 31,074,910 (GRCm39) |
D4543G |
probably damaging |
Het |
Elp3 |
A |
G |
14: 65,785,370 (GRCm39) |
V477A |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,885,205 (GRCm39) |
S245P |
probably benign |
Het |
Fkbp9 |
G |
T |
6: 56,837,682 (GRCm39) |
G312V |
probably damaging |
Het |
Htr4 |
A |
G |
18: 62,570,624 (GRCm39) |
I226M |
probably damaging |
Het |
Impa2 |
G |
A |
18: 67,451,497 (GRCm39) |
V264I |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,914,486 (GRCm39) |
|
probably null |
Het |
Kmt2c |
C |
A |
5: 25,515,981 (GRCm39) |
V2621F |
possibly damaging |
Het |
Lif |
A |
G |
11: 4,219,237 (GRCm39) |
D172G |
probably damaging |
Het |
Llgl1 |
C |
A |
11: 60,595,559 (GRCm39) |
H82N |
probably benign |
Het |
Lrwd1 |
T |
C |
5: 136,162,273 (GRCm39) |
I162M |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,694,511 (GRCm39) |
I1078N |
probably damaging |
Het |
Muc1 |
A |
T |
3: 89,137,745 (GRCm39) |
T196S |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,464,634 (GRCm39) |
L657P |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Ppp1cb |
T |
C |
5: 32,645,015 (GRCm39) |
M55T |
probably damaging |
Het |
Ppp1r9a |
T |
C |
6: 5,159,697 (GRCm39) |
M1078T |
possibly damaging |
Het |
Rarg |
T |
C |
15: 102,149,595 (GRCm39) |
T125A |
probably damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Slc5a7 |
G |
A |
17: 54,600,039 (GRCm39) |
R125C |
probably damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tigit |
G |
T |
16: 43,469,485 (GRCm39) |
T202N |
probably benign |
Het |
Tmem132b |
C |
T |
5: 125,860,606 (GRCm39) |
A617V |
possibly damaging |
Het |
Tpm1 |
T |
C |
9: 66,938,400 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
G |
2: 69,768,659 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
A |
13: 89,852,422 (GRCm39) |
D846V |
probably damaging |
Het |
Vmn1r16 |
T |
G |
6: 57,300,221 (GRCm39) |
N134H |
probably damaging |
Het |
|
Other mutations in Ahdc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00946:Ahdc1
|
APN |
4 |
132,790,373 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02293:Ahdc1
|
APN |
4 |
132,792,929 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02338:Ahdc1
|
APN |
4 |
132,789,860 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02828:Ahdc1
|
APN |
4 |
132,790,232 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02859:Ahdc1
|
APN |
4 |
132,790,004 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02859:Ahdc1
|
APN |
4 |
132,790,003 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02901:Ahdc1
|
APN |
4 |
132,792,245 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03323:Ahdc1
|
APN |
4 |
132,792,739 (GRCm39) |
missense |
probably benign |
|
FR4304:Ahdc1
|
UTSW |
4 |
132,790,070 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Ahdc1
|
UTSW |
4 |
132,790,071 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Ahdc1
|
UTSW |
4 |
132,790,068 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Ahdc1
|
UTSW |
4 |
132,790,070 (GRCm39) |
small insertion |
probably benign |
|
R0325:Ahdc1
|
UTSW |
4 |
132,790,030 (GRCm39) |
missense |
unknown |
|
R0550:Ahdc1
|
UTSW |
4 |
132,790,348 (GRCm39) |
missense |
probably benign |
0.33 |
R0681:Ahdc1
|
UTSW |
4 |
132,792,827 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0683:Ahdc1
|
UTSW |
4 |
132,792,827 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0731:Ahdc1
|
UTSW |
4 |
132,790,262 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0751:Ahdc1
|
UTSW |
4 |
132,792,707 (GRCm39) |
missense |
probably benign |
0.02 |
R1184:Ahdc1
|
UTSW |
4 |
132,792,707 (GRCm39) |
missense |
probably benign |
0.02 |
R1331:Ahdc1
|
UTSW |
4 |
132,791,002 (GRCm39) |
missense |
probably benign |
0.18 |
R1599:Ahdc1
|
UTSW |
4 |
132,792,247 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2202:Ahdc1
|
UTSW |
4 |
132,793,220 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2205:Ahdc1
|
UTSW |
4 |
132,793,220 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2261:Ahdc1
|
UTSW |
4 |
132,790,474 (GRCm39) |
missense |
unknown |
|
R2262:Ahdc1
|
UTSW |
4 |
132,790,474 (GRCm39) |
missense |
unknown |
|
R3683:Ahdc1
|
UTSW |
4 |
132,793,013 (GRCm39) |
missense |
possibly damaging |
0.96 |
R3684:Ahdc1
|
UTSW |
4 |
132,793,013 (GRCm39) |
missense |
possibly damaging |
0.96 |
R3685:Ahdc1
|
UTSW |
4 |
132,793,013 (GRCm39) |
missense |
possibly damaging |
0.96 |
R3713:Ahdc1
|
UTSW |
4 |
132,793,297 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4027:Ahdc1
|
UTSW |
4 |
132,791,476 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4807:Ahdc1
|
UTSW |
4 |
132,791,624 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4987:Ahdc1
|
UTSW |
4 |
132,791,631 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5126:Ahdc1
|
UTSW |
4 |
132,790,833 (GRCm39) |
missense |
probably benign |
0.18 |
R5276:Ahdc1
|
UTSW |
4 |
132,790,109 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5680:Ahdc1
|
UTSW |
4 |
132,792,907 (GRCm39) |
missense |
probably benign |
|
R5997:Ahdc1
|
UTSW |
4 |
132,791,206 (GRCm39) |
missense |
probably benign |
0.05 |
R6050:Ahdc1
|
UTSW |
4 |
132,793,202 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6271:Ahdc1
|
UTSW |
4 |
132,792,035 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6410:Ahdc1
|
UTSW |
4 |
132,790,210 (GRCm39) |
missense |
probably damaging |
0.97 |
R6519:Ahdc1
|
UTSW |
4 |
132,792,079 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6970:Ahdc1
|
UTSW |
4 |
132,789,656 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7199:Ahdc1
|
UTSW |
4 |
132,791,935 (GRCm39) |
missense |
probably benign |
0.33 |
R7202:Ahdc1
|
UTSW |
4 |
132,789,198 (GRCm39) |
nonsense |
probably null |
|
R7576:Ahdc1
|
UTSW |
4 |
132,792,313 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7614:Ahdc1
|
UTSW |
4 |
132,790,825 (GRCm39) |
missense |
probably benign |
0.18 |
R7794:Ahdc1
|
UTSW |
4 |
132,791,289 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7875:Ahdc1
|
UTSW |
4 |
132,791,161 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8016:Ahdc1
|
UTSW |
4 |
132,790,226 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8295:Ahdc1
|
UTSW |
4 |
132,788,762 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R8332:Ahdc1
|
UTSW |
4 |
132,791,282 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8719:Ahdc1
|
UTSW |
4 |
132,791,533 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8725:Ahdc1
|
UTSW |
4 |
132,792,743 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8862:Ahdc1
|
UTSW |
4 |
132,791,129 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9158:Ahdc1
|
UTSW |
4 |
132,792,505 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9179:Ahdc1
|
UTSW |
4 |
132,788,929 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9362:Ahdc1
|
UTSW |
4 |
132,790,348 (GRCm39) |
missense |
probably benign |
0.33 |
R9428:Ahdc1
|
UTSW |
4 |
132,791,773 (GRCm39) |
missense |
possibly damaging |
0.93 |
RF017:Ahdc1
|
UTSW |
4 |
132,790,062 (GRCm39) |
small insertion |
probably benign |
|
RF020:Ahdc1
|
UTSW |
4 |
132,791,588 (GRCm39) |
missense |
possibly damaging |
0.96 |
T0722:Ahdc1
|
UTSW |
4 |
132,790,065 (GRCm39) |
small insertion |
probably benign |
|
T0975:Ahdc1
|
UTSW |
4 |
132,790,065 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGGACTTGACAAGGCTGTCGC -3'
(R):5'- AGCTCCAAACCTTCTCCTAGAGGC -3'
Sequencing Primer
(F):5'- GCGACTTGCAGTACAGCTTC -3'
(R):5'- AGAGGCTCTAGTGCCTGTG -3'
|
Posted On |
2014-01-05 |