Mutagenetix > Incidental Mutation

Incidental Mutation 'R6136:Atrip'

488357

Institutional Source

Beutler Lab

Gene Symbol

Atrip

Ensembl Gene

ENSMUSG00000025646

Gene Name

ATR interacting protein

Synonyms

6620401K05Rik

MMRRC Submission

044283-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108888815-108903192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108900804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 178 (E178D)

Ref Sequence

ENSEMBL: ENSMUSP00000125264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045011] [ENSMUST00000160217] [ENSMUST00000161521] [ENSMUST00000192801]

AlphaFold

Q8BMG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000045011
AA Change: E178D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646
AA Change: E178D

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: E178D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125264
Gene: ENSMUSG00000025646
AA Change: E178D

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

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

noncoding transcript
Transcript: ENSMUST00000161270

Predicted Effect

probably damaging
Transcript: ENSMUST00000161521
AA Change: E178D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646
AA Change: E178D

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: ENSMUST00000192801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194199

Meta Mutation Damage Score

0.0864

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	C	A	4: 124,504,181 (GRCm39)	G124C	unknown	Het
3425401B19Rik	A	T	14: 32,384,239 (GRCm39)	D575E	possibly damaging	Het
Abca15	A	T	7: 119,939,272 (GRCm39)	H222L	possibly damaging	Het
Arhgef18	T	C	8: 3,504,507 (GRCm39)	V1013A	probably benign	Het
Arsj	T	C	3: 126,158,424 (GRCm39)	M1T	probably null	Het
Atp10a	A	C	7: 58,478,088 (GRCm39)	Q1377P	probably benign	Het
Cblif	G	A	19: 11,727,649 (GRCm39)	A158T	probably damaging	Het
Chadl	T	C	15: 81,577,755 (GRCm39)	N625D	probably benign	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Cox11	T	C	11: 90,535,221 (GRCm39)	L84P	probably damaging	Het
Dchs1	T	G	7: 105,410,132 (GRCm39)	T1747P	probably benign	Het
Dnah12	A	G	14: 26,597,227 (GRCm39)	K3529E	probably damaging	Het
Ecd	T	C	14: 20,370,859 (GRCm39)	N620S	probably damaging	Het
Fbn1	T	A	2: 125,245,052 (GRCm39)	K278N	possibly damaging	Het
Fcho2	T	C	13: 98,926,275 (GRCm39)	K103E	probably damaging	Het
Fzd7	T	G	1: 59,522,419 (GRCm39)	F101V	probably damaging	Het
Galnt13	G	T	2: 54,406,491 (GRCm39)		probably benign	Het
Gm32647	C	T	7: 94,124,939 (GRCm39)			Het
Gm5624	A	T	14: 44,797,333 (GRCm39)	D152E	probably benign	Het
Heatr6	T	A	11: 83,663,329 (GRCm39)	V664E	possibly damaging	Het
Hpgd	A	G	8: 56,747,987 (GRCm39)	D36G	probably damaging	Het
Ifnlr1	A	G	4: 135,431,108 (GRCm39)	T199A	possibly damaging	Het
Kalrn	T	G	16: 34,177,481 (GRCm39)	D228A	probably damaging	Het
Miox	T	C	15: 89,219,524 (GRCm39)	M47T	probably damaging	Het
Nampt	A	T	12: 32,880,301 (GRCm39)	I65F	probably benign	Het
Ncf1	T	C	5: 134,255,487 (GRCm39)	K135E	probably damaging	Het
Nop53	G	A	7: 15,672,314 (GRCm39)	Q452*	probably null	Het
Or8u10	A	G	2: 85,915,245 (GRCm39)	L292S	probably damaging	Het
Pik3cg	A	G	12: 32,254,358 (GRCm39)	V543A	probably benign	Het
Ralgds	T	C	2: 28,440,577 (GRCm39)		probably null	Het
Rap1a	A	G	3: 105,657,598 (GRCm39)	V7A	probably damaging	Het
Rasal1	T	C	5: 120,813,543 (GRCm39)	V639A	possibly damaging	Het
Rassf8	A	G	6: 145,761,382 (GRCm39)	N236S	probably benign	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Sbno1	T	C	5: 124,516,554 (GRCm39)	D1272G	probably benign	Het
Setx	A	G	2: 29,038,039 (GRCm39)	D1508G	probably benign	Het
Slc1a1	T	A	19: 28,882,810 (GRCm39)	L358Q	probably damaging	Het
Slc7a12	C	A	3: 14,564,186 (GRCm39)	L20I	probably benign	Het
Spata31g1	T	C	4: 42,972,853 (GRCm39)	S729P	probably damaging	Het
Spats2l	C	T	1: 57,941,302 (GRCm39)	T187M	probably damaging	Het
Specc1l	A	G	10: 75,082,494 (GRCm39)	D647G	probably benign	Het
Steap4	G	A	5: 8,028,562 (GRCm39)	R380Q	probably damaging	Het
Syne2	A	G	12: 75,952,099 (GRCm39)	S456G	probably benign	Het
Tfcp2	G	T	15: 100,410,194 (GRCm39)	T391N	probably damaging	Het
Tns2	T	A	15: 102,015,465 (GRCm39)	D122E	probably damaging	Het
Tshr	A	G	12: 91,505,008 (GRCm39)	M649V	probably benign	Het
Ubr3	A	G	2: 69,824,107 (GRCm39)	T1440A	probably benign	Het
Urb2	A	G	8: 124,756,831 (GRCm39)	D846G	probably benign	Het
Vmn1r202	T	C	13: 22,685,632 (GRCm39)	T262A	possibly damaging	Het
Vmn2r61	G	T	7: 41,916,455 (GRCm39)	W356L	probably damaging	Het
Wdr11	T	A	7: 129,220,427 (GRCm39)	M605K	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
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
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'- GGGTGAATGTTTCCAGGCAAC -3'
(R):5'- TTGACTGGGCGTAATTTACAGCTG -3'

Sequencing Primer
(F):5'- TGACTGGCCTGGAATTCAC -3'
(R):5'- CTGGGCGTAATTTACAGCTGAAAGC -3'

Posted On

2017-10-10