Incidental Mutation 'R3756:Atf7ip'
| ID |
271438 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R3756 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136495787-136587848 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136537815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 357
(N357K)
|
| 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: N349K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213
AA Change: N349K
| 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: N349K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140458
Gene: ENSMUSG00000030213
AA Change: N349K
| 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: N357K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000140502
Gene: ENSMUSG00000030213
AA Change: N357K
| 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 |
0.0593 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (39/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
A |
G |
15: 57,963,119 (GRCm39) |
C805R |
probably benign |
Het |
| Atp7a |
T |
A |
X: 105,145,449 (GRCm39) |
|
probably null |
Het |
| Cdc16 |
T |
C |
8: 13,827,609 (GRCm39) |
|
probably null |
Het |
| Cdh26 |
T |
A |
2: 178,111,794 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,495,566 (GRCm39) |
S273T |
probably damaging |
Het |
| Cyb5d1 |
G |
T |
11: 69,284,658 (GRCm39) |
R165S |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,848,030 (GRCm39) |
K546R |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,894,720 (GRCm39) |
V250E |
probably damaging |
Het |
| Dnm1l |
G |
T |
16: 16,139,476 (GRCm39) |
A406D |
possibly damaging |
Het |
| Efs |
G |
A |
14: 55,157,879 (GRCm39) |
|
probably benign |
Het |
| Ephb1 |
A |
C |
9: 101,918,238 (GRCm39) |
S424A |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,470,215 (GRCm39) |
T83A |
possibly damaging |
Het |
| Erich3 |
A |
G |
3: 154,469,958 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm9970 |
G |
C |
5: 31,398,117 (GRCm39) |
|
probably benign |
Het |
| H2az2 |
A |
G |
11: 6,383,761 (GRCm39) |
V53A |
possibly damaging |
Het |
| Inpp5d |
G |
A |
1: 87,629,130 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,061,284 (GRCm39) |
S256P |
possibly damaging |
Het |
| Lrch4 |
T |
A |
5: 137,635,992 (GRCm39) |
D348E |
probably damaging |
Het |
| Mettl13 |
T |
C |
1: 162,371,789 (GRCm39) |
E360G |
probably damaging |
Het |
| Mtss2 |
C |
T |
8: 111,456,692 (GRCm39) |
S192L |
probably damaging |
Het |
| Myh8 |
G |
A |
11: 67,175,443 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,152,650 (GRCm39) |
Y666N |
probably benign |
Het |
| Pcdha8 |
G |
A |
18: 37,126,741 (GRCm39) |
V408M |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,878 (GRCm39) |
F615L |
probably damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,608,271 (GRCm39) |
L333P |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,942,526 (GRCm39) |
|
probably benign |
Het |
| Poldip3 |
A |
G |
15: 83,015,676 (GRCm39) |
|
probably benign |
Het |
| Rbmx2 |
T |
A |
X: 47,797,890 (GRCm39) |
S143T |
possibly damaging |
Het |
| Rgl2 |
C |
A |
17: 34,151,571 (GRCm39) |
A205D |
probably benign |
Het |
| Rundc3a |
A |
G |
11: 102,290,085 (GRCm39) |
I175V |
possibly damaging |
Het |
| Rxra |
A |
C |
2: 27,631,923 (GRCm39) |
Q198P |
probably damaging |
Het |
| Slc25a36 |
A |
T |
9: 96,982,208 (GRCm39) |
Y42* |
probably null |
Het |
| Slc4a5 |
A |
G |
6: 83,265,285 (GRCm39) |
D693G |
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,623 (GRCm39) |
L138P |
probably damaging |
Het |
| Trappc13 |
C |
T |
13: 104,305,068 (GRCm39) |
D40N |
probably benign |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,863 (GRCm39) |
S152G |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfp35 |
T |
C |
18: 24,135,982 (GRCm39) |
C109R |
possibly 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 |
|
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'- AGCCACCTTCTAGTGAGGAC -3'
(R):5'- CTTCCATGCTGCTGGAGATG -3'
Sequencing Primer
(F):5'- TAGTGAGGACTCCCTTCCTAGG -3'
(R):5'- AGATGGCCTCTTCCTCGAGAG -3'
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| Posted On |
2015-03-18 |
Incidental Mutation