Incidental Mutation 'R4956:Atf7ip'
| ID |
381576 |
| 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 |
042553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R4956 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136495787-136587848 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136583808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1280
(R1280C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032335]
|
| AlphaFold |
Q7TT18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032335
AA Change: R1280C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: R1280C
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
96% (70/73) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 4930562C15Rik |
A |
G |
16: 4,672,816 (GRCm39) |
K866E |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,931,879 (GRCm39) |
M49V |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,599,643 (GRCm39) |
F583L |
probably benign |
Het |
| Atxn7l3b |
A |
G |
10: 112,764,501 (GRCm39) |
C43R |
probably damaging |
Het |
| Axin2 |
T |
C |
11: 108,833,904 (GRCm39) |
V617A |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,108,958 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
T |
15: 88,614,316 (GRCm39) |
F193Y |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,420,221 (GRCm39) |
S141G |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,851,045 (GRCm39) |
F7Y |
probably damaging |
Het |
| Cpn2 |
T |
A |
16: 30,079,233 (GRCm39) |
Q156L |
possibly damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,216,354 (GRCm39) |
D416E |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Eif2s3y |
A |
G |
Y: 1,023,407 (GRCm39) |
T430A |
possibly damaging |
Het |
| Enah |
G |
A |
1: 181,745,854 (GRCm39) |
T401I |
probably damaging |
Het |
| Esp38 |
T |
G |
17: 40,266,053 (GRCm39) |
I54R |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,086,028 (GRCm39) |
R152W |
probably benign |
Het |
| Flvcr1 |
A |
G |
1: 190,758,383 (GRCm39) |
|
probably benign |
Het |
| Fzd9 |
G |
A |
5: 135,278,796 (GRCm39) |
A363V |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,869,987 (GRCm39) |
I451N |
probably benign |
Het |
| Hmg20a |
A |
G |
9: 56,388,948 (GRCm39) |
T172A |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,742,885 (GRCm39) |
T1695M |
probably damaging |
Het |
| Ipo13 |
G |
A |
4: 117,758,768 (GRCm39) |
A699V |
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,331,960 (GRCm39) |
|
probably null |
Het |
| Klra17 |
A |
G |
6: 129,850,279 (GRCm39) |
L57P |
probably damaging |
Het |
| Map3k8 |
A |
C |
18: 4,339,530 (GRCm39) |
D280E |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,524,675 (GRCm39) |
F662L |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,231,431 (GRCm39) |
H792L |
probably damaging |
Het |
| Nlrx1 |
T |
A |
9: 44,173,909 (GRCm39) |
K431* |
probably null |
Het |
| Nos1 |
A |
G |
5: 118,085,575 (GRCm39) |
N1301S |
probably benign |
Het |
| Obp2b |
A |
G |
2: 25,627,087 (GRCm39) |
T7A |
probably damaging |
Het |
| Odc1 |
T |
C |
12: 17,597,958 (GRCm39) |
I95T |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4c127 |
G |
A |
2: 89,833,187 (GRCm39) |
V146M |
probably benign |
Het |
| Or5b97 |
C |
T |
19: 12,878,963 (GRCm39) |
M60I |
probably damaging |
Het |
| Or6ae1 |
A |
G |
7: 139,741,993 (GRCm39) |
I290T |
possibly damaging |
Het |
| Or6c1 |
A |
T |
10: 129,517,968 (GRCm39) |
F213L |
probably benign |
Het |
| Pcif1 |
A |
T |
2: 164,731,610 (GRCm39) |
Q521L |
probably damaging |
Het |
| Plekhg2 |
A |
C |
7: 28,067,780 (GRCm39) |
L223R |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,018,772 (GRCm39) |
N270D |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,636 (GRCm39) |
L417* |
probably null |
Het |
| Psmd6 |
C |
T |
14: 14,116,166 (GRCm38) |
V141I |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,225,121 (GRCm39) |
Y111* |
probably null |
Het |
| Rell2 |
G |
A |
18: 38,090,758 (GRCm39) |
R145H |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,745,426 (GRCm39) |
K614R |
probably damaging |
Het |
| Scart2 |
A |
G |
7: 139,878,275 (GRCm39) |
I1001V |
probably benign |
Het |
| Shbg |
C |
T |
11: 69,508,045 (GRCm39) |
E107K |
probably damaging |
Het |
| Slc30a3 |
G |
A |
5: 31,244,247 (GRCm39) |
P345L |
possibly damaging |
Het |
| Tchp |
A |
C |
5: 114,857,681 (GRCm39) |
E391D |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,077,520 (GRCm39) |
D200G |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,700,601 (GRCm39) |
T144A |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vgll3 |
T |
C |
16: 65,624,820 (GRCm39) |
V56A |
possibly damaging |
Het |
| Vmn2r71 |
C |
T |
7: 85,268,436 (GRCm39) |
T213I |
probably benign |
Het |
| Wtap |
T |
C |
17: 13,186,423 (GRCm39) |
T375A |
probably benign |
Het |
| Yipf2 |
T |
G |
9: 21,503,204 (GRCm39) |
T88P |
probably damaging |
Het |
| Zfp382 |
T |
A |
7: 29,830,979 (GRCm39) |
D89E |
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,524,209 (GRCm39) |
|
probably benign |
Het |
| Zpr1 |
C |
T |
9: 46,185,961 (GRCm39) |
T144I |
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 |
|
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 |
|
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'- CAGAATGGCATTGTTCTGTCG -3'
(R):5'- TCACATGTCCGGGAGATCTTG -3'
Sequencing Primer
(F):5'- TCCTGGAAGTGGACCGAAGC -3'
(R):5'- TGTCCGGGAGATCTTGCACAAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation