Incidental Mutation 'PIT4508001:Atrip'
| ID |
556229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrip
|
| Ensembl Gene |
ENSMUSG00000025646 |
| Gene Name |
ATR interacting protein |
| Synonyms |
6620401K05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4508001 (G1)
|
| Quality Score |
131.008 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108888815-108903192 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108903057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 6
(A6T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045011]
[ENSMUST00000160217]
[ENSMUST00000161521]
[ENSMUST00000167504]
[ENSMUST00000192801]
|
| AlphaFold |
Q8BMG1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045011
AA Change: A6T
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646
AA Change: A6T
| 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 damaging
Transcript: ENSMUST00000160217
AA Change: A6T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125264
Gene: ENSMUSG00000025646
AA Change: A6T
| 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 damaging
Transcript: ENSMUST00000161521
AA Change: A6T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646
AA Change: A6T
| 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 |
probably benign
Transcript: ENSMUST00000167504
|
| SMART Domains |
Protein: ENSMUSP00000133026
Gene: ENSMUSG00000091537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMA7
|
3 |
64 |
4.9e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192801
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.7%
- 10x: 84.6%
- 20x: 71.6%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,176,128 (GRCm39) |
T1228A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,489,989 (GRCm39) |
I370N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,557,137 (GRCm39) |
T330A |
possibly damaging |
Het |
| Bms1 |
G |
A |
6: 118,360,767 (GRCm39) |
R1234C |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,989,230 (GRCm39) |
T487S |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,767,284 (GRCm39) |
F478S |
probably damaging |
Het |
| Esco2 |
A |
T |
14: 66,068,914 (GRCm39) |
V132E |
probably damaging |
Het |
| Gjb5 |
A |
T |
4: 127,250,033 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm8020 |
T |
A |
14: 42,324,234 (GRCm39) |
Y24F |
|
Het |
| H2bc8 |
CTCGACCATCACGTC |
CTC |
13: 23,755,867 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,644,796 (GRCm39) |
L195P |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,874,816 (GRCm39) |
T1602A |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,153,662 (GRCm39) |
Y243* |
probably null |
Het |
| Itga3 |
T |
C |
11: 94,946,719 (GRCm39) |
H730R |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,974,451 (GRCm39) |
L866Q |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,360,606 (GRCm39) |
L127Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,223 (GRCm39) |
I2262T |
probably damaging |
Het |
| Mxd3 |
A |
T |
13: 55,473,707 (GRCm39) |
D170E |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,076,331 (GRCm39) |
M811V |
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,606,527 (GRCm39) |
D335E |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,249,028 (GRCm39) |
T58A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,351 (GRCm39) |
R292* |
probably null |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,524,059 (GRCm39) |
H56Y |
probably damaging |
Het |
| Pom121l12 |
A |
G |
11: 14,549,689 (GRCm39) |
R132G |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,484 (GRCm39) |
K210E |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,927,573 (GRCm39) |
Y1351H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 12,085,344 (GRCm39) |
V318I |
probably benign |
Het |
| Slc41a2 |
T |
G |
10: 83,090,744 (GRCm39) |
H480P |
probably damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,722,892 (GRCm39) |
A331S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,764 (GRCm39) |
F885I |
unknown |
Het |
| Speer4f1 |
T |
C |
5: 17,685,412 (GRCm39) |
S236P |
unknown |
Het |
| Zfp326 |
A |
T |
5: 106,062,556 (GRCm39) |
Q475L |
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,786,002 (GRCm39) |
V2058G |
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 |
|
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 |
|
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'- TGTCGAGTTCCTCTAGGTCG -3'
(R):5'- TTCGTACTGAGCCCAGACAC -3'
Sequencing Primer
(F):5'- AGGTCGTCCGCAGTAAATTC -3'
(R):5'- GTACACGTCACCCATCTGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation