Incidental Mutation 'R2134:Atf7ip'
| ID |
233629 |
| 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 |
040137-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R2134 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136495787-136587848 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136582485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1165
(V1165E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032335]
|
| AlphaFold |
Q7TT18 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032335
AA Change: V1165E
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: V1165E
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,921,743 (GRCm39) |
V1437E |
probably null |
Het |
| Adam12 |
G |
A |
7: 133,614,017 (GRCm39) |
R80* |
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,133,038 (GRCm39) |
F479L |
probably damaging |
Het |
| Atm |
C |
T |
9: 53,379,264 (GRCm39) |
|
probably null |
Het |
| Atp11c |
A |
G |
X: 59,322,143 (GRCm39) |
Y593H |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,608 (GRCm39) |
D463G |
possibly damaging |
Het |
| Cdc34b |
T |
G |
11: 94,633,252 (GRCm39) |
W151G |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,538,660 (GRCm39) |
S500P |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,390,839 (GRCm39) |
N998D |
probably benign |
Het |
| Ces2e |
T |
A |
8: 105,659,171 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,753,147 (GRCm39) |
Q548R |
probably damaging |
Het |
| Chfr |
T |
A |
5: 110,292,627 (GRCm39) |
|
probably null |
Het |
| Clu |
A |
G |
14: 66,212,290 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
A |
G |
17: 58,714,717 (GRCm39) |
D1235G |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,943,860 (GRCm39) |
S1205G |
probably benign |
Het |
| Ddx47 |
G |
T |
6: 134,992,313 (GRCm39) |
E113* |
probably null |
Het |
| Dock4 |
A |
G |
12: 40,795,667 (GRCm39) |
Y828C |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,623,065 (GRCm39) |
N3553K |
possibly damaging |
Het |
| Egflam |
C |
T |
15: 7,263,760 (GRCm39) |
C730Y |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,398,298 (GRCm39) |
Y935C |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,594,510 (GRCm39) |
I681M |
probably benign |
Het |
| Fastk |
T |
C |
5: 24,650,139 (GRCm39) |
R3G |
probably damaging |
Het |
| Fxr1 |
A |
T |
3: 34,112,196 (GRCm39) |
E367D |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,518,677 (GRCm39) |
D261G |
probably damaging |
Het |
| Gm5617 |
T |
C |
9: 48,407,117 (GRCm39) |
S84P |
possibly damaging |
Het |
| Hecw1 |
C |
T |
13: 14,552,285 (GRCm39) |
E104K |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,680,422 (GRCm39) |
K265R |
possibly damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,341,411 (GRCm39) |
D923V |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,179,601 (GRCm39) |
L1520P |
probably damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Map1s |
T |
G |
8: 71,366,526 (GRCm39) |
V477G |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,358,708 (GRCm39) |
L542P |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,072,395 (GRCm39) |
Y562* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,446,329 (GRCm39) |
Y1800C |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,806,846 (GRCm39) |
D1697V |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,015,014 (GRCm39) |
F79I |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,228,848 (GRCm39) |
|
probably benign |
Het |
| Pde9a |
A |
G |
17: 31,605,284 (GRCm39) |
Y6C |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,934,509 (GRCm39) |
I1808N |
probably damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,800,167 (GRCm39) |
T537S |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,253,924 (GRCm39) |
F415L |
possibly damaging |
Het |
| Rabgap1 |
C |
T |
2: 37,453,499 (GRCm39) |
R976* |
probably null |
Het |
| Rbfox3 |
T |
C |
11: 118,387,842 (GRCm39) |
H195R |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,544,933 (GRCm39) |
D571E |
probably damaging |
Het |
| Sdhaf4 |
T |
A |
1: 24,044,634 (GRCm39) |
R16S |
probably benign |
Het |
| Slc17a1 |
G |
T |
13: 24,059,658 (GRCm39) |
G130* |
probably null |
Het |
| Slc6a1 |
G |
T |
6: 114,278,977 (GRCm39) |
A23S |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,926,704 (GRCm39) |
I541V |
probably damaging |
Het |
| Spock1 |
T |
A |
13: 57,583,952 (GRCm39) |
Q321L |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,999,560 (GRCm39) |
I2318V |
probably damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,271 (GRCm39) |
V53A |
possibly damaging |
Het |
| Thrb |
T |
C |
14: 18,033,487 (GRCm38) |
F403L |
probably benign |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Uqcrfs1 |
T |
C |
13: 30,724,787 (GRCm39) |
K251R |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,792,085 (GRCm39) |
E57G |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,737 (GRCm39) |
Y581F |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,874,909 (GRCm39) |
V1866A |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,241,083 (GRCm39) |
F84Y |
probably damaging |
Het |
| Yars1 |
T |
A |
4: 129,090,992 (GRCm39) |
Y28* |
probably null |
Het |
| Zfp638 |
A |
G |
6: 83,905,964 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zfp750 |
T |
A |
11: 121,404,758 (GRCm39) |
H39L |
probably damaging |
Het |
| Zfr2 |
C |
A |
10: 81,078,735 (GRCm39) |
S322R |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,771,450 (GRCm39) |
D1644G |
probably benign |
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 |
|
|
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 |
|
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'- GACTTTTCAGTTGGAATTGCTCATC -3'
(R):5'- AAGAAGAGCTCTCTCCTTCCTTTG -3'
Sequencing Primer
(F):5'- TGTTACAGTTCGAGTGCC -3'
(R):5'- GCAATGGTGACTAAGGCCTTTCATC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation