Incidental Mutation 'R5279:Atf7ip'
| ID |
404103 |
| 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 |
042839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R5279 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136495787-136587848 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 136580377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1100
(Y1100*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032335]
|
| AlphaFold |
Q7TT18 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032335
AA Change: Y1100*
|
| SMART Domains |
Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: Y1100*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185332
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
A |
17: 24,508,388 (GRCm39) |
G1049V |
probably damaging |
Het |
| Afdn |
G |
A |
17: 14,109,214 (GRCm39) |
R1579H |
probably damaging |
Het |
| Ankrd28 |
T |
A |
14: 31,456,963 (GRCm39) |
N386Y |
probably damaging |
Het |
| Atp9b |
T |
A |
18: 80,956,073 (GRCm39) |
E3V |
probably damaging |
Het |
| AW554918 |
T |
G |
18: 25,308,488 (GRCm39) |
D60E |
possibly damaging |
Het |
| Baz2b |
G |
T |
2: 59,762,496 (GRCm39) |
Q927K |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,957,042 (GRCm39) |
R3659G |
probably damaging |
Het |
| C8a |
T |
G |
4: 104,703,185 (GRCm39) |
N291H |
probably damaging |
Het |
| Calcoco1 |
G |
A |
15: 102,619,420 (GRCm39) |
L390F |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,739,028 (GRCm39) |
D894G |
probably damaging |
Het |
| Cdc20 |
A |
G |
4: 118,290,711 (GRCm39) |
Y430H |
probably damaging |
Het |
| Cdc6 |
A |
T |
11: 98,803,088 (GRCm39) |
I316F |
probably damaging |
Het |
| Ceacam23 |
T |
A |
7: 17,607,214 (GRCm39) |
|
noncoding transcript |
Het |
| Cenpu |
T |
A |
8: 47,031,945 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
A |
4: 128,350,707 (GRCm39) |
V1592D |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 48,655,340 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
T |
C |
1: 46,558,429 (GRCm39) |
F512L |
probably benign |
Het |
| Fam136a |
T |
A |
6: 86,343,686 (GRCm39) |
L61Q |
probably damaging |
Het |
| Fpgs |
A |
C |
2: 32,582,779 (GRCm39) |
|
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,056,881 (GRCm39) |
M309I |
probably benign |
Het |
| Gad2 |
A |
G |
2: 22,563,969 (GRCm39) |
T391A |
probably benign |
Het |
| Gm11563 |
A |
T |
11: 99,549,539 (GRCm39) |
S72T |
unknown |
Het |
| Gon4l |
A |
G |
3: 88,794,944 (GRCm39) |
I716V |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,457,273 (GRCm39) |
V128A |
probably damaging |
Het |
| Kat6a |
CGCAGCAGCAGCAGCAGCA |
CGCAGCAGCAGCA |
8: 23,429,664 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
T |
A |
12: 72,542,368 (GRCm39) |
D1063E |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,823,387 (GRCm39) |
L1453* |
probably null |
Het |
| Mcm3ap |
T |
C |
10: 76,343,373 (GRCm39) |
V1755A |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,314,869 (GRCm39) |
S985P |
probably damaging |
Het |
| Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
| Nr2c2ap |
G |
A |
8: 70,584,653 (GRCm39) |
D42N |
probably damaging |
Het |
| Ntn1 |
A |
G |
11: 68,276,538 (GRCm39) |
S137P |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,186,867 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,430,015 (GRCm39) |
D1210E |
probably damaging |
Het |
| Pcdhga5 |
T |
C |
18: 37,827,774 (GRCm39) |
L74P |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,573,022 (GRCm39) |
|
probably null |
Het |
| Pdia3 |
T |
C |
2: 121,244,484 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
A |
T |
1: 65,235,858 (GRCm39) |
R177* |
probably null |
Het |
| Pklr |
A |
G |
3: 89,050,566 (GRCm39) |
E409G |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,463,376 (GRCm39) |
Y154H |
probably damaging |
Het |
| Psmc3 |
T |
A |
2: 90,884,667 (GRCm39) |
D6E |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,547,334 (GRCm39) |
N205I |
possibly damaging |
Het |
| Rbm6 |
T |
C |
9: 107,655,213 (GRCm39) |
E1006G |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,154,922 (GRCm39) |
V642A |
probably benign |
Het |
| Rnf8 |
T |
A |
17: 29,845,680 (GRCm39) |
H104Q |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
T |
C |
11: 75,204,170 (GRCm39) |
N269S |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,757,857 (GRCm39) |
M519T |
probably benign |
Het |
| Snx30 |
A |
G |
4: 59,885,070 (GRCm39) |
S237G |
probably benign |
Het |
| Spx |
A |
G |
6: 142,359,766 (GRCm39) |
N36S |
probably damaging |
Het |
| Stard7 |
T |
C |
2: 127,137,416 (GRCm39) |
Y289H |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,709,757 (GRCm39) |
|
probably benign |
Het |
| Susd4 |
C |
T |
1: 182,715,043 (GRCm39) |
T288I |
probably damaging |
Het |
| Tceanc2 |
T |
A |
4: 107,034,826 (GRCm39) |
|
probably null |
Het |
| Tm4sf4 |
T |
G |
3: 57,341,159 (GRCm39) |
V97G |
probably benign |
Het |
| Tmtc1 |
C |
T |
6: 148,256,629 (GRCm39) |
|
probably benign |
Het |
| Trappc11 |
C |
T |
8: 47,958,339 (GRCm39) |
|
probably benign |
Het |
| Triobp |
G |
T |
15: 78,878,591 (GRCm39) |
V398F |
possibly damaging |
Het |
| Ttll9 |
T |
A |
2: 152,804,464 (GRCm39) |
S2T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,731,320 (GRCm39) |
|
probably benign |
Het |
| Tyw3 |
A |
G |
3: 154,300,108 (GRCm39) |
C80R |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,242,621 (GRCm39) |
V1177A |
possibly damaging |
Het |
| Vmn1r65 |
A |
G |
7: 6,011,754 (GRCm39) |
V160A |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,262,146 (GRCm39) |
H328L |
probably benign |
Het |
| Vmn2r65 |
A |
C |
7: 84,589,849 (GRCm39) |
I689S |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,731,129 (GRCm39) |
Y1068H |
probably damaging |
Het |
| Xpo4 |
C |
A |
14: 57,850,866 (GRCm39) |
S346I |
probably benign |
Het |
| Zc3h3 |
T |
A |
15: 75,711,439 (GRCm39) |
T341S |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,347,419 (GRCm39) |
M260T |
possibly 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 |
|
|
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 |
|
R7812:Atf7ip
|
UTSW |
6 |
136,580,415 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- CACATGTGGTTCTGACAGCC -3'
(R):5'- GTGCTGTTCCATATGTCCCTTAGTATG -3'
Sequencing Primer
(F):5'- ATGTGGTTCTGACAGCCCTTTTC -3'
(R):5'- ATAGAGCAGTACATACCCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation