Incidental Mutation 'R8203:Atf7ip'
ID |
635766 |
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 |
067626-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.912)
|
Stock # |
R8203 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
136495787-136587848 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136583781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1271
(S1271P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032335]
|
AlphaFold |
Q7TT18 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032335
AA Change: S1271P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000032335 Gene: ENSMUSG00000030213 AA Change: S1271P
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: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
98% (53/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
G |
15: 91,075,369 (GRCm39) |
I148T |
probably benign |
Het |
Agbl3 |
A |
G |
6: 34,776,414 (GRCm39) |
T307A |
probably damaging |
Het |
Ahsa1 |
A |
G |
12: 87,315,042 (GRCm39) |
D65G |
probably damaging |
Het |
Aicda |
T |
C |
6: 122,538,076 (GRCm39) |
V78A |
possibly damaging |
Het |
Arhgef5 |
A |
G |
6: 43,257,579 (GRCm39) |
D1282G |
probably damaging |
Het |
Atrn |
G |
A |
2: 130,802,469 (GRCm39) |
D537N |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,693,443 (GRCm39) |
S2017T |
probably benign |
Het |
Cep170 |
T |
A |
1: 176,596,877 (GRCm39) |
Q493H |
probably benign |
Het |
Cltc |
A |
T |
11: 86,594,986 (GRCm39) |
Y1371N |
possibly damaging |
Het |
Col12a1 |
T |
C |
9: 79,588,831 (GRCm39) |
T1095A |
possibly damaging |
Het |
Cxcr5 |
T |
C |
9: 44,425,451 (GRCm39) |
M69V |
probably benign |
Het |
Cyp2c69 |
A |
T |
19: 39,869,584 (GRCm39) |
V145E |
probably damaging |
Het |
Ddx3y |
T |
C |
Y: 1,269,827 (GRCm39) |
E185G |
probably benign |
Het |
Dgke |
G |
A |
11: 88,941,193 (GRCm39) |
A330V |
probably benign |
Het |
Dyrk4 |
A |
G |
6: 126,871,797 (GRCm39) |
L157P |
probably damaging |
Het |
Ermard |
T |
A |
17: 15,240,548 (GRCm39) |
S337R |
possibly damaging |
Het |
Etl4 |
A |
T |
2: 20,789,916 (GRCm39) |
M805L |
possibly damaging |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Fmn1 |
T |
A |
2: 113,355,620 (GRCm39) |
M785K |
unknown |
Het |
Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
Gabrg3 |
G |
A |
7: 56,423,008 (GRCm39) |
T230I |
possibly damaging |
Het |
Gle1 |
A |
G |
2: 29,825,522 (GRCm39) |
D4G |
probably benign |
Het |
Gm5468 |
T |
C |
15: 25,414,527 (GRCm39) |
S26P |
noncoding transcript |
Het |
Igsf10 |
A |
T |
3: 59,236,254 (GRCm39) |
L1309Q |
probably benign |
Het |
Lipf |
A |
G |
19: 33,944,283 (GRCm39) |
K164R |
probably benign |
Het |
Luc7l |
C |
A |
17: 26,485,333 (GRCm39) |
T111K |
possibly damaging |
Het |
Masp2 |
A |
G |
4: 148,696,599 (GRCm39) |
T399A |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,562,328 (GRCm39) |
I946V |
probably benign |
Het |
Neb |
T |
A |
2: 52,039,259 (GRCm39) |
K6927* |
probably null |
Het |
Nipal4 |
A |
T |
11: 46,041,147 (GRCm39) |
D349E |
probably damaging |
Het |
Or12j2 |
A |
T |
7: 139,915,939 (GRCm39) |
T55S |
probably benign |
Het |
Or5al7 |
T |
A |
2: 85,992,844 (GRCm39) |
I150F |
probably benign |
Het |
Or7g22 |
A |
G |
9: 19,049,170 (GRCm39) |
N294D |
probably damaging |
Het |
Pdik1l |
A |
T |
4: 134,006,676 (GRCm39) |
H154Q |
unknown |
Het |
Polr2m |
T |
G |
9: 71,386,768 (GRCm39) |
M338L |
probably benign |
Het |
Rab3gap2 |
T |
C |
1: 184,999,376 (GRCm39) |
L995P |
probably damaging |
Het |
Rnf17 |
T |
A |
14: 56,705,179 (GRCm39) |
H694Q |
probably benign |
Het |
Sar1b |
A |
G |
11: 51,670,524 (GRCm39) |
K23E |
probably benign |
Het |
Setd7 |
A |
T |
3: 51,437,519 (GRCm39) |
Y245* |
probably null |
Het |
Shpk |
A |
C |
11: 73,104,904 (GRCm39) |
D171A |
probably benign |
Het |
Slc2a7 |
G |
T |
4: 150,243,015 (GRCm39) |
E279* |
probably null |
Het |
Slco4a1 |
T |
C |
2: 180,106,592 (GRCm39) |
V258A |
probably damaging |
Het |
Srcin1 |
G |
T |
11: 97,457,539 (GRCm39) |
P62Q |
probably damaging |
Het |
Tbc1d2 |
A |
G |
4: 46,606,476 (GRCm39) |
F823S |
probably damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tdrd9 |
T |
A |
12: 111,992,064 (GRCm39) |
V613E |
probably damaging |
Het |
Tsc1 |
A |
G |
2: 28,563,007 (GRCm39) |
|
probably null |
Het |
Ulk4 |
A |
T |
9: 120,997,274 (GRCm39) |
M766K |
probably damaging |
Het |
Wdr36 |
G |
T |
18: 32,985,136 (GRCm39) |
G481* |
probably null |
Het |
Yme1l1 |
G |
A |
2: 23,054,538 (GRCm39) |
R119H |
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,349,559 (GRCm39) |
T1644I |
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 |
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 |
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'- ACATGTCCGGGAGATCTTGC -3'
Sequencing Primer
(F):5'- TCGTGGAGCGTCCTGGAAG -3'
(R):5'- TGTCCGGGAGATCTTGCACAAG -3'
|
Posted On |
2020-07-13 |