Incidental Mutation 'R7812:Atf7ip'
| ID |
601216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf7ip
|
| Ensembl Gene |
ENSMUSG00000030213 |
| Gene Name |
activating transcription factor 7 interacting protein |
| Synonyms |
ATFa-associated Modulator, AM, 2610204M12Rik, Mcaf1 |
| MMRRC Submission |
045867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R7812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136495787-136587848 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 136580415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1113
(R1113Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032335]
|
| AlphaFold |
Q7TT18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032335
AA Change: R1113Q
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: R1113Q
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
123 |
144 |
9.59e-5 |
PROSPERO |
|
internal_repeat_1
|
143 |
164 |
9.59e-5 |
PROSPERO |
|
low complexity region
|
184 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
582 |
N/A |
INTRINSIC |
|
Pfam:ATF7IP_BD
|
598 |
813 |
5.5e-62 |
PFAM |
|
low complexity region
|
864 |
889 |
N/A |
INTRINSIC |
|
PDB:2RPQ|B
|
974 |
1017 |
5e-7 |
PDB |
|
low complexity region
|
1022 |
1036 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1050 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1112 |
N/A |
INTRINSIC |
|
low complexity region
|
1168 |
1192 |
N/A |
INTRINSIC |
|
FN3
|
1194 |
1288 |
3.4e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,165,141 (GRCm39) |
C411F |
probably damaging |
Het |
| Abhd17c |
G |
T |
7: 83,800,624 (GRCm39) |
Y143* |
probably null |
Het |
| Acad11 |
T |
G |
9: 103,972,747 (GRCm39) |
L480R |
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,890,476 (GRCm39) |
N277K |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,342,938 (GRCm39) |
Y268C |
probably damaging |
Het |
| Adm2 |
A |
T |
15: 89,208,367 (GRCm39) |
R102S |
possibly damaging |
Het |
| Ambra1 |
A |
T |
2: 91,596,911 (GRCm39) |
M1L |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,742,161 (GRCm39) |
N465S |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,879,290 (GRCm39) |
I820M |
unknown |
Het |
| Atp5pb |
A |
G |
3: 105,851,157 (GRCm39) |
V180A |
probably benign |
Het |
| Auts2 |
C |
T |
5: 131,501,284 (GRCm39) |
R43H |
|
Het |
| Cacna1g |
A |
T |
11: 94,334,880 (GRCm39) |
I809N |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,053,864 (GRCm39) |
M158K |
probably benign |
Het |
| Cars1 |
T |
A |
7: 143,123,784 (GRCm39) |
I500F |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,328,699 (GRCm39) |
M706K |
probably benign |
Het |
| Ccdc180 |
G |
A |
4: 45,906,952 (GRCm39) |
|
probably null |
Het |
| Ces1f |
A |
G |
8: 93,984,938 (GRCm39) |
V463A |
probably benign |
Het |
| Cndp1 |
G |
T |
18: 84,655,994 (GRCm39) |
D58E |
probably benign |
Het |
| Csnk2b |
A |
T |
17: 35,339,431 (GRCm39) |
F21Y |
probably benign |
Het |
| Dgkg |
C |
G |
16: 22,385,165 (GRCm39) |
R447T |
probably damaging |
Het |
| Dnajc12 |
A |
G |
10: 63,242,905 (GRCm39) |
D141G |
probably benign |
Het |
| Edar |
A |
G |
10: 58,465,926 (GRCm39) |
V4A |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,802,998 (GRCm39) |
D117G |
probably damaging |
Het |
| Fam124b |
T |
C |
1: 80,191,351 (GRCm39) |
T11A |
probably damaging |
Het |
| Fgl2 |
C |
A |
5: 21,577,896 (GRCm39) |
T61K |
probably benign |
Het |
| Furin |
T |
C |
7: 80,045,722 (GRCm39) |
N218S |
possibly damaging |
Het |
| Gcn1 |
T |
A |
5: 115,731,751 (GRCm39) |
H955Q |
possibly damaging |
Het |
| Gucy2e |
A |
G |
11: 69,117,069 (GRCm39) |
I784T |
probably damaging |
Het |
| Ice1 |
T |
A |
13: 70,751,124 (GRCm39) |
Q1654L |
possibly damaging |
Het |
| Klhl28 |
T |
C |
12: 64,990,363 (GRCm39) |
N526S |
possibly damaging |
Het |
| Ldlrad4 |
C |
A |
18: 68,239,742 (GRCm39) |
P54Q |
probably benign |
Het |
| Lsm14a |
A |
G |
7: 34,088,301 (GRCm39) |
|
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,062,115 (GRCm39) |
V438A |
probably benign |
Het |
| Mrto4 |
A |
G |
4: 139,075,278 (GRCm39) |
V175A |
possibly damaging |
Het |
| Nav2 |
T |
G |
7: 49,246,921 (GRCm39) |
S2149A |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,002,430 (GRCm39) |
Y8H |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,746,380 (GRCm39) |
F225L |
probably benign |
Het |
| Or1j12 |
T |
A |
2: 36,343,290 (GRCm39) |
I231N |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,737 (GRCm39) |
M135L |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,894 (GRCm39) |
L147P |
possibly damaging |
Het |
| Oxr1 |
T |
A |
15: 41,615,138 (GRCm39) |
M1K |
probably null |
Het |
| Pbx3 |
T |
C |
2: 34,114,478 (GRCm39) |
Y152C |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,575,645 (GRCm39) |
C8S |
probably benign |
Het |
| Polr1c |
G |
A |
17: 46,557,053 (GRCm39) |
R77W |
probably damaging |
Het |
| Psg25 |
A |
T |
7: 18,255,093 (GRCm39) |
N474K |
possibly damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,766,413 (GRCm39) |
M838L |
possibly damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,303,224 (GRCm39) |
T799A |
probably benign |
Het |
| Sbf2 |
C |
T |
7: 110,049,170 (GRCm39) |
V265I |
possibly damaging |
Het |
| Scarf2 |
G |
A |
16: 17,621,692 (GRCm39) |
G381R |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,027,735 (GRCm39) |
Q114R |
probably benign |
Het |
| Sipa1l2 |
A |
C |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
| Slc26a4 |
T |
A |
12: 31,594,449 (GRCm39) |
I300F |
probably damaging |
Het |
| Sox7 |
C |
T |
14: 64,185,681 (GRCm39) |
T239I |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
G |
T |
11: 116,659,927 (GRCm39) |
H129N |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,485,654 (GRCm39) |
L231P |
probably damaging |
Het |
| Syngap1 |
A |
C |
17: 27,160,478 (GRCm39) |
Y18S |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,335 (GRCm39) |
Y1557C |
probably benign |
Het |
| Trim44 |
G |
T |
2: 102,230,489 (GRCm39) |
P181T |
possibly damaging |
Het |
| Trp53i13 |
A |
T |
11: 77,399,666 (GRCm39) |
V221D |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,641,236 (GRCm39) |
S1554P |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,045,158 (GRCm39) |
N288D |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,196 (GRCm39) |
Y405* |
probably null |
Het |
| Vps35 |
T |
C |
8: 86,010,818 (GRCm39) |
D175G |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,071,532 (GRCm39) |
L949Q |
probably damaging |
Het |
| Wwp1 |
G |
A |
4: 19,639,991 (GRCm39) |
T517I |
probably damaging |
Het |
| Zfp462 |
T |
G |
4: 55,008,509 (GRCm39) |
F158L |
probably benign |
Het |
| Zfp703 |
T |
A |
8: 27,469,906 (GRCm39) |
H523Q |
probably damaging |
Het |
|
| Other mutations in Atf7ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00844:Atf7ip
|
APN |
6 |
136,537,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01483:Atf7ip
|
APN |
6 |
136,564,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02313:Atf7ip
|
APN |
6 |
136,583,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02319:Atf7ip
|
APN |
6 |
136,570,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02547:Atf7ip
|
APN |
6 |
136,580,274 (GRCm39) |
splice site |
probably benign |
|
|
IGL02869:Atf7ip
|
APN |
6 |
136,583,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02895:Atf7ip
|
APN |
6 |
136,537,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02967:Atf7ip
|
APN |
6 |
136,583,725 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03026:Atf7ip
|
APN |
6 |
136,582,380 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
fuegado
|
UTSW |
6 |
136,537,708 (GRCm39) |
missense |
probably benign |
|
|
Outtahere
|
UTSW |
6 |
136,542,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Severance
|
UTSW |
6 |
136,536,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0024:Atf7ip
|
UTSW |
6 |
136,576,818 (GRCm39) |
splice site |
probably benign |
|
|
R0045:Atf7ip
|
UTSW |
6 |
136,536,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Atf7ip
|
UTSW |
6 |
136,536,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Atf7ip
|
UTSW |
6 |
136,537,987 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0331:Atf7ip
|
UTSW |
6 |
136,538,161 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0415:Atf7ip
|
UTSW |
6 |
136,537,010 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0490:Atf7ip
|
UTSW |
6 |
136,586,190 (GRCm39) |
unclassified |
probably benign |
|
|
R0526:Atf7ip
|
UTSW |
6 |
136,536,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Atf7ip
|
UTSW |
6 |
136,583,865 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1663:Atf7ip
|
UTSW |
6 |
136,580,322 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1793:Atf7ip
|
UTSW |
6 |
136,586,217 (GRCm39) |
unclassified |
probably benign |
|
|
R1822:Atf7ip
|
UTSW |
6 |
136,564,258 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1873:Atf7ip
|
UTSW |
6 |
136,536,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Atf7ip
|
UTSW |
6 |
136,537,778 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2059:Atf7ip
|
UTSW |
6 |
136,586,346 (GRCm39) |
unclassified |
probably benign |
|
|
R2134:Atf7ip
|
UTSW |
6 |
136,582,485 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2679:Atf7ip
|
UTSW |
6 |
136,543,649 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3430:Atf7ip
|
UTSW |
6 |
136,552,322 (GRCm39) |
unclassified |
probably benign |
|
|
R3755:Atf7ip
|
UTSW |
6 |
136,537,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3756:Atf7ip
|
UTSW |
6 |
136,537,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3890:Atf7ip
|
UTSW |
6 |
136,564,043 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4190:Atf7ip
|
UTSW |
6 |
136,564,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4494:Atf7ip
|
UTSW |
6 |
136,540,747 (GRCm39) |
splice site |
probably null |
|
|
R4588:Atf7ip
|
UTSW |
6 |
136,576,692 (GRCm39) |
missense |
probably benign |
|
|
R4618:Atf7ip
|
UTSW |
6 |
136,542,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Atf7ip
|
UTSW |
6 |
136,538,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Atf7ip
|
UTSW |
6 |
136,573,489 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4922:Atf7ip
|
UTSW |
6 |
136,537,039 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4956:Atf7ip
|
UTSW |
6 |
136,583,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Atf7ip
|
UTSW |
6 |
136,583,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4958:Atf7ip
|
UTSW |
6 |
136,583,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Atf7ip
|
UTSW |
6 |
136,559,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Atf7ip
|
UTSW |
6 |
136,538,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5075:Atf7ip
|
UTSW |
6 |
136,537,232 (GRCm39) |
missense |
probably benign |
|
|
R5279:Atf7ip
|
UTSW |
6 |
136,580,377 (GRCm39) |
nonsense |
probably null |
|
|
R5445:Atf7ip
|
UTSW |
6 |
136,564,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Atf7ip
|
UTSW |
6 |
136,583,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5850:Atf7ip
|
UTSW |
6 |
136,543,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5891:Atf7ip
|
UTSW |
6 |
136,536,975 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5987:Atf7ip
|
UTSW |
6 |
136,548,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6168:Atf7ip
|
UTSW |
6 |
136,536,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Atf7ip
|
UTSW |
6 |
136,559,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6880:Atf7ip
|
UTSW |
6 |
136,538,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6924:Atf7ip
|
UTSW |
6 |
136,536,755 (GRCm39) |
splice site |
probably null |
|
|
R7075:Atf7ip
|
UTSW |
6 |
136,573,513 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7308:Atf7ip
|
UTSW |
6 |
136,542,087 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7365:Atf7ip
|
UTSW |
6 |
136,537,708 (GRCm39) |
missense |
probably benign |
|
|
R7556:Atf7ip
|
UTSW |
6 |
136,538,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7973:Atf7ip
|
UTSW |
6 |
136,538,062 (GRCm39) |
nonsense |
probably null |
|
|
R8032:Atf7ip
|
UTSW |
6 |
136,542,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8203:Atf7ip
|
UTSW |
6 |
136,583,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8274:Atf7ip
|
UTSW |
6 |
136,537,988 (GRCm39) |
missense |
probably benign |
|
|
R8784:Atf7ip
|
UTSW |
6 |
136,576,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8785:Atf7ip
|
UTSW |
6 |
136,564,162 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8885:Atf7ip
|
UTSW |
6 |
136,564,141 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8957:Atf7ip
|
UTSW |
6 |
136,543,701 (GRCm39) |
missense |
probably null |
0.99 |
|
R9042:Atf7ip
|
UTSW |
6 |
136,538,263 (GRCm39) |
nonsense |
probably null |
|
|
R9531:Atf7ip
|
UTSW |
6 |
136,537,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCTTCATGATGTTGTCTTACATAG -3'
(R):5'- AACTTCCCTTTTCTGGGCTAAG -3'
Sequencing Primer
(F):5'- ACATAGAATTGGCTACATTCTTGG -3'
(R):5'- CCTTTAATCGTAGCACTTGGGAGAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation