Incidental Mutation 'R7071:Atrip'
| ID |
568503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrip
|
| Ensembl Gene |
ENSMUSG00000025646 |
| Gene Name |
ATR interacting protein |
| Synonyms |
6620401K05Rik |
| MMRRC Submission |
045167-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7071 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108888815-108903192 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 108896082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045011]
[ENSMUST00000159614]
[ENSMUST00000160217]
[ENSMUST00000161521]
|
| AlphaFold |
Q8BMG1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045011
|
| SMART Domains |
Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eq1a_
|
96 |
193 |
8e-3 |
SMART |
|
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
779 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159614
|
| SMART Domains |
Protein: ENSMUSP00000124854
Gene: ENSMUSG00000025646
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160217
|
| SMART Domains |
Protein: ENSMUSP00000125264
Gene: ENSMUSG00000025646
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eq1a_
|
96 |
193 |
3e-3 |
SMART |
|
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
581 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161521
|
| SMART Domains |
Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
108 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
752 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (41/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,449,503 (GRCm39) |
Q854* |
probably null |
Het |
| Arl2bp |
G |
T |
8: 95,393,794 (GRCm39) |
|
probably benign |
Het |
| Astl |
T |
C |
2: 127,187,885 (GRCm39) |
M121T |
probably benign |
Het |
| Camk1g |
A |
T |
1: 193,042,117 (GRCm39) |
V44E |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,866,455 (GRCm39) |
H804R |
probably benign |
Het |
| Cd300a |
T |
C |
11: 114,792,099 (GRCm39) |
S314P |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,484,577 (GRCm39) |
I440L |
possibly damaging |
Het |
| Cfap61 |
T |
G |
2: 145,843,832 (GRCm39) |
I306R |
probably benign |
Het |
| Cnot10 |
T |
C |
9: 114,446,787 (GRCm39) |
|
probably null |
Het |
| Cntln |
T |
A |
4: 85,018,622 (GRCm39) |
L76Q |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,204,795 (GRCm39) |
C636R |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 161,847,412 (GRCm39) |
H148Q |
probably damaging |
Het |
| Dot1l |
T |
A |
10: 80,628,079 (GRCm39) |
L1039Q |
probably benign |
Het |
| Faiml |
T |
A |
9: 99,118,400 (GRCm39) |
M1L |
unknown |
Het |
| Fat1 |
T |
G |
8: 45,442,145 (GRCm39) |
I1149S |
possibly damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm11938 |
A |
T |
11: 99,493,910 (GRCm39) |
C62S |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,292,475 (GRCm39) |
L423S |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,479,853 (GRCm39) |
C4582S |
probably damaging |
Het |
| Ifitm3 |
A |
G |
7: 140,590,437 (GRCm39) |
V41A |
probably benign |
Het |
| Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
| Khsrp |
C |
A |
17: 57,332,386 (GRCm39) |
M268I |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 41,298,276 (GRCm39) |
D1036A |
|
Het |
| Mecom |
T |
G |
3: 30,034,857 (GRCm39) |
H273P |
probably damaging |
Het |
| Mfn1 |
G |
A |
3: 32,622,544 (GRCm39) |
V601I |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
| Myo18a |
A |
G |
11: 77,714,653 (GRCm39) |
T811A |
probably damaging |
Het |
| Ndfip2 |
A |
C |
14: 105,539,760 (GRCm39) |
N292H |
possibly damaging |
Het |
| Or2ak5 |
C |
A |
11: 58,610,984 (GRCm39) |
V297F |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,916,747 (GRCm39) |
C895S |
probably damaging |
Het |
| Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
| Pira13 |
A |
G |
7: 3,824,667 (GRCm39) |
S573P |
unknown |
Het |
| Ptprn |
A |
T |
1: 75,237,263 (GRCm39) |
M113K |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,807 (GRCm39) |
H445R |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,328,659 (GRCm39) |
F2853V |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,636,277 (GRCm39) |
F647Y |
unknown |
Het |
| Stt3b |
T |
C |
9: 115,083,085 (GRCm39) |
Y449C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Zfp451 |
A |
C |
1: 33,815,825 (GRCm39) |
D708E |
possibly damaging |
Het |
| Zfp456 |
T |
C |
13: 67,520,896 (GRCm39) |
E33G |
probably damaging |
Het |
| Zfp599 |
T |
C |
9: 22,169,392 (GRCm39) |
T27A |
probably benign |
Het |
|
| Other mutations in Atrip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Atrip
|
APN |
9 |
108,898,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02176:Atrip
|
APN |
9 |
108,896,114 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02227:Atrip
|
APN |
9 |
108,890,732 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02344:Atrip
|
APN |
9 |
108,901,692 (GRCm39) |
nonsense |
probably null |
|
|
IGL02406:Atrip
|
APN |
9 |
108,894,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02457:Atrip
|
APN |
9 |
108,894,299 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02823:Atrip
|
APN |
9 |
108,890,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4508001:Atrip
|
UTSW |
9 |
108,903,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0637:Atrip
|
UTSW |
9 |
108,890,241 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0709:Atrip
|
UTSW |
9 |
108,896,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1452:Atrip
|
UTSW |
9 |
108,901,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Atrip
|
UTSW |
9 |
108,900,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Atrip
|
UTSW |
9 |
108,900,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2081:Atrip
|
UTSW |
9 |
108,901,807 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4588:Atrip
|
UTSW |
9 |
108,889,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Atrip
|
UTSW |
9 |
108,894,271 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5088:Atrip
|
UTSW |
9 |
108,888,964 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5696:Atrip
|
UTSW |
9 |
108,894,569 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6104:Atrip
|
UTSW |
9 |
108,894,632 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6136:Atrip
|
UTSW |
9 |
108,900,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Atrip
|
UTSW |
9 |
108,889,488 (GRCm39) |
missense |
probably benign |
|
|
R7467:Atrip
|
UTSW |
9 |
108,898,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7734:Atrip
|
UTSW |
9 |
108,894,574 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9025:Atrip
|
UTSW |
9 |
108,902,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9777:Atrip
|
UTSW |
9 |
108,902,964 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTCCAGAACATTGGGAG -3'
(R):5'- TCTATGTAGGAGTTTCTGGAATACC -3'
Sequencing Primer
(F):5'- GTGGCAGATACCTTTACCCATTGAG -3'
(R):5'- GTAGCCTCATGAAGCAAG -3'
|
| Posted On |
2019-08-09 |
Incidental Mutation