Incidental Mutation 'R5075:Atf7ip'
ID |
386924 |
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 |
042664-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.918)
|
Stock # |
R5075 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
136495787-136587848 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136537232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 163
(D163G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032335]
[ENSMUST00000185724]
[ENSMUST00000186577]
[ENSMUST00000186742]
[ENSMUST00000187429]
[ENSMUST00000189535]
[ENSMUST00000203988]
|
AlphaFold |
Q7TT18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032335
AA Change: D155G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032335 Gene: ENSMUSG00000030213 AA Change: D155G
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 |
probably benign
Transcript: ENSMUST00000185724
AA Change: D155G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140458 Gene: ENSMUSG00000030213 AA Change: D155G
Domain | Start | End | E-Value | Type |
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186577
|
SMART Domains |
Protein: ENSMUSP00000140121 Gene: ENSMUSG00000030213
Domain | Start | End | E-Value | Type |
coiled coil region
|
71 |
101 |
N/A |
INTRINSIC |
low complexity region
|
106 |
116 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186742
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187429
AA Change: D163G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140502 Gene: ENSMUSG00000030213 AA Change: D163G
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
123 |
144 |
8.96e-5 |
PROSPERO |
internal_repeat_1
|
143 |
164 |
8.96e-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 |
coiled coil region
|
666 |
696 |
N/A |
INTRINSIC |
low complexity region
|
701 |
711 |
N/A |
INTRINSIC |
low complexity region
|
753 |
768 |
N/A |
INTRINSIC |
low complexity region
|
774 |
803 |
N/A |
INTRINSIC |
low complexity region
|
864 |
889 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189535
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203178
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203988
|
SMART Domains |
Protein: ENSMUSP00000145022 Gene: ENSMUSG00000030213
Domain | Start | End | E-Value | Type |
Pfam:ATF7IP_BD
|
3 |
73 |
1.6e-26 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.3%
|
Validation Efficiency |
100% (57/57) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,587,456 (GRCm39) |
F33S |
probably damaging |
Het |
Cep85 |
C |
A |
4: 133,859,678 (GRCm39) |
D662Y |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,809,991 (GRCm39) |
S558T |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,958,731 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
A |
17: 31,019,505 (GRCm39) |
N3859K |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
Esm1 |
A |
G |
13: 113,349,892 (GRCm39) |
Y104C |
probably damaging |
Het |
Fkbp15 |
T |
C |
4: 62,239,266 (GRCm39) |
K613R |
probably damaging |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,808,387 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
A |
G |
1: 91,923,842 (GRCm39) |
S223P |
probably benign |
Het |
Hypk |
A |
G |
2: 121,286,111 (GRCm39) |
|
probably benign |
Het |
Kpna1 |
T |
A |
16: 35,829,722 (GRCm39) |
F70I |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,296,102 (GRCm39) |
Y3336H |
probably benign |
Het |
Mier1 |
A |
G |
4: 102,996,670 (GRCm39) |
D99G |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,754,794 (GRCm38) |
|
probably benign |
Het |
Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
Or5b121 |
T |
A |
19: 13,507,637 (GRCm39) |
M244K |
probably benign |
Het |
Peg3 |
A |
T |
7: 6,711,419 (GRCm39) |
C1268S |
probably damaging |
Het |
Recql4 |
G |
A |
15: 76,593,744 (GRCm39) |
P122L |
probably damaging |
Het |
Rex2 |
A |
T |
4: 147,142,151 (GRCm39) |
Q213L |
possibly damaging |
Het |
Rnf25 |
A |
G |
1: 74,634,803 (GRCm39) |
V73A |
probably benign |
Het |
Sacm1l |
A |
G |
9: 123,411,327 (GRCm39) |
D372G |
probably benign |
Het |
Selplg |
T |
C |
5: 113,958,045 (GRCm39) |
D87G |
probably benign |
Het |
Sgsh |
G |
A |
11: 119,237,594 (GRCm39) |
T340M |
probably benign |
Het |
Slc4a3 |
A |
T |
1: 75,534,012 (GRCm39) |
I1120F |
probably damaging |
Het |
Snrnp40 |
T |
C |
4: 130,282,375 (GRCm39) |
Y311H |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,722,133 (GRCm39) |
K1016E |
probably damaging |
Het |
Stard7 |
A |
T |
2: 127,111,879 (GRCm39) |
|
probably benign |
Het |
Stat1 |
A |
T |
1: 52,161,871 (GRCm39) |
K40M |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,212,646 (GRCm39) |
|
probably null |
Het |
Tet2 |
T |
A |
3: 133,192,667 (GRCm39) |
Q589L |
probably benign |
Het |
Tmc7 |
A |
T |
7: 118,151,919 (GRCm39) |
|
probably null |
Het |
Tmt1b |
A |
G |
10: 128,796,549 (GRCm39) |
F87L |
probably damaging |
Het |
Unc79 |
A |
T |
12: 103,041,213 (GRCm39) |
I749F |
possibly damaging |
Het |
Ust |
A |
G |
10: 8,393,988 (GRCm39) |
F59S |
probably damaging |
Het |
Wdr81 |
A |
T |
11: 75,343,307 (GRCm39) |
D653E |
probably benign |
Het |
Zfat |
A |
G |
15: 68,052,079 (GRCm39) |
S572P |
probably benign |
Het |
Zmynd15 |
G |
C |
11: 70,352,946 (GRCm39) |
E143D |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,749,170 (GRCm39) |
E886G |
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 |
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'- GACCCCTTGTATGCCCAATG -3'
(R):5'- GGCGGCTTCTTCAGAAACAG -3'
Sequencing Primer
(F):5'- CTTGTATGCCCAATGTTGCTG -3'
(R):5'- GGCTTCTTCAGAAACAGGATCTC -3'
|
Posted On |
2016-06-06 |