Incidental Mutation 'R4588:Atf7ip'
| ID |
342609 |
| 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 |
042007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R4588 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136495787-136587848 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136576692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1032
(S1032P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032335]
|
| AlphaFold |
Q7TT18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032335
AA Change: S1032P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: S1032P
| 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 |
0.0597 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (51/52) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,833,701 (GRCm39) |
|
probably null |
Het |
| Abcb4 |
A |
T |
5: 8,997,328 (GRCm39) |
I936F |
probably benign |
Het |
| Adnp2 |
G |
T |
18: 80,171,863 (GRCm39) |
L849I |
probably benign |
Het |
| Atr |
A |
C |
9: 95,747,720 (GRCm39) |
D334A |
probably benign |
Het |
| Atrip |
A |
T |
9: 108,889,347 (GRCm39) |
D20E |
probably damaging |
Het |
| Atxn7 |
T |
A |
14: 14,096,268 (GRCm38) |
C43* |
probably null |
Het |
| Cfap65 |
C |
A |
1: 74,943,215 (GRCm39) |
Q1603H |
possibly damaging |
Het |
| Cpne5 |
T |
C |
17: 29,383,687 (GRCm39) |
I327V |
probably benign |
Het |
| Ctsa |
T |
C |
2: 164,676,070 (GRCm39) |
S41P |
possibly damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,965,994 (GRCm39) |
L444Q |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,405,248 (GRCm39) |
M2431I |
probably benign |
Het |
| Ddi1 |
T |
A |
9: 6,266,003 (GRCm39) |
H122L |
probably benign |
Het |
| Defa21 |
C |
T |
8: 21,515,664 (GRCm39) |
P21S |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,201,149 (GRCm39) |
V77A |
probably damaging |
Het |
| Ermap |
C |
A |
4: 119,045,445 (GRCm39) |
|
probably benign |
Het |
| Fancm |
G |
A |
12: 65,165,215 (GRCm39) |
|
probably null |
Het |
| Gcnt3 |
T |
A |
9: 69,941,512 (GRCm39) |
D352V |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,395,181 (GRCm39) |
M428T |
possibly damaging |
Het |
| Igtp |
T |
A |
11: 58,097,508 (GRCm39) |
N226K |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,142,694 (GRCm39) |
H1675L |
probably benign |
Het |
| Lipo4 |
G |
A |
19: 33,476,647 (GRCm39) |
P367L |
possibly damaging |
Het |
| Lzts3 |
T |
C |
2: 130,476,686 (GRCm39) |
*587W |
probably null |
Het |
| Mast3 |
T |
A |
8: 71,233,251 (GRCm39) |
K300* |
probably null |
Het |
| Mepce |
G |
A |
5: 137,783,534 (GRCm39) |
T264I |
possibly damaging |
Het |
| Mif4gd |
A |
T |
11: 115,500,372 (GRCm39) |
I62N |
probably damaging |
Het |
| Or14a260 |
C |
T |
7: 85,984,852 (GRCm39) |
V251I |
probably benign |
Het |
| Or7e175 |
T |
A |
9: 20,049,383 (GRCm39) |
*324K |
probably null |
Het |
| Palm3 |
A |
G |
8: 84,756,015 (GRCm39) |
K509R |
probably benign |
Het |
| Pde11a |
T |
C |
2: 75,859,647 (GRCm39) |
T821A |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,384,087 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,092 (GRCm39) |
T3154A |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,732,534 (GRCm39) |
Y438H |
probably damaging |
Het |
| Rdh8 |
T |
A |
9: 20,734,025 (GRCm39) |
D70E |
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,544,111 (GRCm39) |
I831L |
possibly damaging |
Het |
| Selenoo |
A |
G |
15: 88,980,921 (GRCm39) |
H420R |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,446,677 (GRCm39) |
|
probably benign |
Het |
| Slc5a1 |
A |
G |
5: 33,302,632 (GRCm39) |
T208A |
probably benign |
Het |
| Sparc |
T |
C |
11: 55,296,062 (GRCm39) |
M121V |
probably benign |
Het |
| Sstr1 |
G |
T |
12: 58,260,417 (GRCm39) |
A347S |
probably benign |
Het |
| Stab1 |
C |
A |
14: 30,879,402 (GRCm39) |
V693F |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,972,681 (GRCm39) |
V307A |
probably benign |
Het |
| Trmt1 |
A |
G |
8: 85,417,382 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,243,760 (GRCm39) |
S1255P |
probably benign |
Het |
| Ube2ql1 |
A |
C |
13: 69,887,276 (GRCm39) |
S62A |
unknown |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,809 (GRCm39) |
M804L |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,562,306 (GRCm39) |
E467G |
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 |
|
|
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'- AGCTCCTGACTGAGTTTTCAAATCAG -3'
(R):5'- AATGACCAAGACGTTCTACAAATGG -3'
Sequencing Primer
(F):5'- GAGTTTTCAAATCAGCAAGAATACAC -3'
(R):5'- CAAATGGGTTACTGAAGTTCCTGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation