Incidental Mutation 'R0637:Atrip'
| ID |
56757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrip
|
| Ensembl Gene |
ENSMUSG00000025646 |
| Gene Name |
ATR interacting protein |
| Synonyms |
6620401K05Rik |
| MMRRC Submission |
038826-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0637 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108888815-108903192 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108890241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 143
(M143I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026737]
[ENSMUST00000045011]
[ENSMUST00000061973]
[ENSMUST00000112053]
[ENSMUST00000112059]
[ENSMUST00000128062]
[ENSMUST00000154184]
[ENSMUST00000159614]
[ENSMUST00000161521]
[ENSMUST00000198295]
[ENSMUST00000197483]
[ENSMUST00000196954]
[ENSMUST00000160217]
[ENSMUST00000198376]
[ENSMUST00000197099]
[ENSMUST00000197689]
[ENSMUST00000200515]
[ENSMUST00000198708]
[ENSMUST00000200629]
|
| AlphaFold |
Q8BMG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026737
|
| SMART Domains |
Protein: ENSMUSP00000026737
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:Shisa
|
24 |
211 |
1.3e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045011
AA Change: M632I
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646
AA Change: M632I
| 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: ENSMUST00000061973
|
| SMART Domains |
Protein: ENSMUSP00000050971
Gene: ENSMUSG00000049734
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
13 |
217 |
2.45e-13 |
SMART |
|
low complexity region
|
248 |
283 |
N/A |
INTRINSIC |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112053
|
| SMART Domains |
Protein: ENSMUSP00000107684
Gene: ENSMUSG00000049734
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
13 |
217 |
2.45e-13 |
SMART |
|
low complexity region
|
248 |
283 |
N/A |
INTRINSIC |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112059
|
| SMART Domains |
Protein: ENSMUSP00000107690
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:Shisa
|
26 |
198 |
1.1e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128062
|
| SMART Domains |
Protein: ENSMUSP00000118499
Gene: ENSMUSG00000025646
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3MXJ|A
|
1 |
150 |
4e-97 |
PDB |
|
SCOP:d1fxxa_
|
12 |
146 |
7e-12 |
SMART |
|
Blast:EXOIII
|
13 |
150 |
1e-85 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154184
|
| SMART Domains |
Protein: ENSMUSP00000128901
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shisa
|
1 |
108 |
1.6e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159614
AA Change: M143I
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124854
Gene: ENSMUSG00000025646
AA Change: M143I
| 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: ENSMUST00000161521
AA Change: M632I
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646
AA Change: M632I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198639
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160928
|
| SMART Domains |
Protein: ENSMUSP00000123837
Gene: ENSMUSG00000025646
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eq1a_
|
19 |
116 |
9e-3 |
SMART |
|
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
702 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198295
|
| SMART Domains |
Protein: ENSMUSP00000143721
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shisa
|
1 |
70 |
1.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197483
|
| SMART Domains |
Protein: ENSMUSP00000143613
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shisa
|
1 |
95 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196954
|
| SMART Domains |
Protein: ENSMUSP00000143599
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shisa
|
1 |
95 |
1.9e-30 |
PFAM |
|
| 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 benign
Transcript: ENSMUST00000198376
|
| SMART Domains |
Protein: ENSMUSP00000143374
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shisa
|
1 |
83 |
5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197099
|
| SMART Domains |
Protein: ENSMUSP00000143648
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shisa
|
1 |
129 |
9.9e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197689
|
| SMART Domains |
Protein: ENSMUSP00000142874
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shisa
|
1 |
63 |
4.3e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200515
|
| SMART Domains |
Protein: ENSMUSP00000142835
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shisa
|
11 |
147 |
4.1e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198708
|
| SMART Domains |
Protein: ENSMUSP00000142978
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shisa
|
1 |
109 |
7.8e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200629
|
| SMART Domains |
Protein: ENSMUSP00000142404
Gene: ENSMUSG00000025647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shisa
|
1 |
72 |
1.9e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 94.9%
|
| Validation Efficiency |
100% (68/68) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
C |
T |
9: 53,498,831 (GRCm39) |
D285N |
probably damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,106,304 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,600,015 (GRCm39) |
T2083A |
possibly damaging |
Het |
| Aup1 |
T |
A |
6: 83,033,842 (GRCm39) |
V344D |
probably damaging |
Het |
| Baiap2 |
G |
A |
11: 119,891,405 (GRCm39) |
V511M |
probably benign |
Het |
| Bnip2 |
T |
A |
9: 69,910,955 (GRCm39) |
|
probably null |
Het |
| Cacna1i |
A |
T |
15: 80,256,855 (GRCm39) |
Y1083F |
probably damaging |
Het |
| Cbr4 |
T |
C |
8: 61,943,740 (GRCm39) |
|
probably benign |
Het |
| Ces2b |
C |
T |
8: 105,561,237 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,962,550 (GRCm39) |
N769S |
possibly damaging |
Het |
| Clca3b |
A |
T |
3: 144,533,701 (GRCm39) |
V558D |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,017 (GRCm39) |
D1736G |
probably benign |
Het |
| Cpne8 |
C |
A |
15: 90,532,824 (GRCm39) |
C61F |
probably damaging |
Het |
| Cxcr1 |
A |
G |
1: 74,231,998 (GRCm39) |
I8T |
probably benign |
Het |
| D630003M21Rik |
T |
G |
2: 158,037,327 (GRCm39) |
|
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,890,763 (GRCm39) |
D99E |
probably damaging |
Het |
| Fbf1 |
C |
T |
11: 116,050,880 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
A |
7: 129,773,354 (GRCm39) |
H570L |
possibly damaging |
Het |
| Gars1 |
G |
A |
6: 55,046,472 (GRCm39) |
|
probably null |
Het |
| Gm10309 |
A |
G |
17: 86,806,463 (GRCm39) |
|
probably benign |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9892 |
G |
A |
8: 52,649,860 (GRCm39) |
Q78* |
probably null |
Het |
| Has1 |
A |
G |
17: 18,064,125 (GRCm39) |
Y505H |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 119,989,738 (GRCm39) |
L2063* |
probably null |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
T |
C |
11: 104,549,702 (GRCm39) |
V614A |
probably benign |
Het |
| Lrrc23 |
A |
G |
6: 124,755,321 (GRCm39) |
|
probably benign |
Het |
| Lrrc63 |
A |
T |
14: 75,335,660 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,057,180 (GRCm39) |
R357* |
probably null |
Het |
| Mink1 |
C |
A |
11: 70,492,502 (GRCm39) |
N123K |
probably damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,501,890 (GRCm39) |
H591R |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,606,058 (GRCm39) |
T923A |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,844,666 (GRCm39) |
T554A |
probably damaging |
Het |
| Nfe2l1 |
T |
C |
11: 96,718,514 (GRCm39) |
Y7C |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,942,470 (GRCm39) |
M4904K |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,973,602 (GRCm39) |
L1910I |
probably damaging |
Het |
| Or8b41 |
T |
C |
9: 38,055,178 (GRCm39) |
F244S |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,619 (GRCm39) |
V617E |
probably damaging |
Het |
| Pelp1 |
T |
C |
11: 70,286,530 (GRCm39) |
T533A |
possibly damaging |
Het |
| Pgrmc1 |
T |
C |
X: 35,865,924 (GRCm39) |
F160S |
probably damaging |
Het |
| Pink1 |
G |
T |
4: 138,045,357 (GRCm39) |
P239Q |
probably damaging |
Het |
| Pramel25 |
A |
T |
4: 143,520,479 (GRCm39) |
Y77F |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,999,005 (GRCm39) |
|
probably benign |
Het |
| Rbpms |
G |
A |
8: 34,296,864 (GRCm39) |
P138S |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,445,055 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
C |
4: 62,564,910 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
C |
T |
16: 72,798,839 (GRCm39) |
T933M |
probably benign |
Het |
| Sinhcaf |
A |
G |
6: 148,832,163 (GRCm39) |
|
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,028,398 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,689,560 (GRCm39) |
Y2009C |
probably damaging |
Het |
| Tnr |
A |
C |
1: 159,677,905 (GRCm39) |
T97P |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,620,542 (GRCm39) |
L1320* |
probably null |
Het |
| Topaz1 |
A |
G |
9: 122,626,727 (GRCm39) |
M1452V |
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,219,509 (GRCm39) |
F2082C |
probably damaging |
Het |
| Trim24 |
C |
A |
6: 37,935,494 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
T |
A |
11: 87,668,066 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,126,926 (GRCm39) |
L483P |
probably damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,033,999 (GRCm39) |
T508S |
probably benign |
Het |
| Vps18 |
C |
T |
2: 119,124,386 (GRCm39) |
R438C |
probably damaging |
Het |
| Zfp366 |
C |
A |
13: 99,365,474 (GRCm39) |
R212S |
probably damaging |
Het |
| Zkscan4 |
T |
A |
13: 21,665,477 (GRCm39) |
C122S |
probably damaging |
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 |
|
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 |
|
R7071:Atrip
|
UTSW |
9 |
108,896,082 (GRCm39) |
splice site |
probably null |
|
|
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'- GGAACCCCTACATTTTACCCGTTGC -3'
(R):5'- AGTACAGGTTCAGAGCCCCTCAAG -3'
Sequencing Primer
(F):5'- CCGTTGCTGTTTGACAAACTG -3'
(R):5'- tcaggaggcagaggcag -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation