Mutagenetix > Incidental Mutation

Incidental Mutation 'R7154:Atr'

557153

Institutional Source

Beutler Lab

Gene Symbol

Atr

Ensembl Gene

ENSMUSG00000032409

Gene Name

ataxia telangiectasia and Rad3 related

Synonyms

MMRRC Submission

045256-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95739650-95833834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95747098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 127 (C127S)

Ref Sequence

ENSEMBL: ENSMUSP00000149953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034980] [ENSMUST00000215311]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000034980
Gene: ENSMUSG00000032409
AA Change: C127S

Domain	Start	End	E-Value	Type
low complexity region	431	449	N/A	INTRINSIC
low complexity region	889	897	N/A	INTRINSIC
low complexity region	998	1013	N/A	INTRINSIC
UME	1119	1225	2.3e-43	SMART
low complexity region	1352	1362	N/A	INTRINSIC
Pfam:FAT	1771	2092	9.2e-51	PFAM
PI3Kc	2320	2630	7.51e-124	SMART
FATC	2609	2641	6.22e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000215311
AA Change: C127S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0608

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Adgre1	G	A	17: 57,751,087 (GRCm39)		probably null	Het
Agap2	A	G	10: 126,927,524 (GRCm39)	D1135G	probably benign	Het
Akp3	T	C	1: 87,052,946 (GRCm39)	L45P	probably damaging	Het
Arfgap3	A	T	15: 83,220,905 (GRCm39)	W71R	probably damaging	Het
Asic3	G	A	5: 24,618,660 (GRCm39)		probably benign	Het
Asph	A	T	4: 9,630,930 (GRCm39)	N139K	possibly damaging	Het
Auts2	A	T	5: 131,480,731 (GRCm39)	S255T		Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Cacnb1	A	G	11: 97,895,959 (GRCm39)	L443P	probably damaging	Het
Cbfa2t3	G	A	8: 123,364,883 (GRCm39)	Q300*	probably null	Het
Ccer1	A	T	10: 97,530,201 (GRCm39)	D288V	unknown	Het
Col18a1	G	A	10: 76,908,799 (GRCm39)	P611S	probably benign	Het
Cpa6	T	A	1: 10,407,694 (GRCm39)	D281V	possibly damaging	Het
Cyp2e1	A	G	7: 140,350,050 (GRCm39)	Y245C	probably damaging	Het
Cyp4a31	T	C	4: 115,431,963 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,589,966 (GRCm39)		probably null	Het
Entpd1	T	C	19: 40,713,430 (GRCm39)	Y188H	probably damaging	Het
Epb42	T	C	2: 120,863,843 (GRCm39)	D111G	probably benign	Het
Espl1	A	G	15: 102,232,484 (GRCm39)	D2064G	probably damaging	Het
Fat3	A	C	9: 15,908,160 (GRCm39)	V2614G	probably damaging	Het
Fos	A	T	12: 85,520,931 (GRCm39)	M40L	probably benign	Het
Frmd4b	T	A	6: 97,283,707 (GRCm39)	E434V	probably damaging	Het
Galnt6	A	T	15: 100,591,345 (GRCm39)	D586E	probably benign	Het
Gapvd1	T	C	2: 34,615,075 (GRCm39)	K474R	probably damaging	Het
Gimap8	T	A	6: 48,633,122 (GRCm39)	F314I	probably damaging	Het
Gm14393	T	G	2: 174,903,576 (GRCm39)	K110N	probably damaging	Het
Gm4131	C	A	14: 62,718,382 (GRCm39)	A75S	probably damaging	Het
Heatr6	G	A	11: 83,668,067 (GRCm39)	V854I	probably benign	Het
Hic2	T	A	16: 17,076,806 (GRCm39)	M545K	possibly damaging	Het
Ift70b	C	T	2: 75,768,405 (GRCm39)	R116H	possibly damaging	Het
Ip6k1	A	G	9: 107,922,861 (GRCm39)	Y331C	probably damaging	Het
Kalrn	C	T	16: 34,032,527 (GRCm39)		probably null	Het
Kxd1	T	C	8: 70,968,084 (GRCm39)	K88E	probably damaging	Het
Lrrc37a	A	C	11: 103,393,682 (GRCm39)	V581G	probably benign	Het
Mex3d	A	T	10: 80,222,584 (GRCm39)	V224E		Het
Mtx2	T	A	2: 74,706,762 (GRCm39)	C246S	probably damaging	Het
Mybbp1a	A	G	11: 72,338,468 (GRCm39)		probably null	Het
Myh6	A	G	14: 55,197,764 (GRCm39)	I458T	probably benign	Het
Ndufs6	A	G	13: 73,468,411 (GRCm39)	V96A	possibly damaging	Het
Nemf	A	T	12: 69,363,515 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,349,950 (GRCm39)	S2397G	probably benign	Het
Or4c15b	A	G	2: 89,113,204 (GRCm39)	I91T	probably damaging	Het
Or6ae1	T	C	7: 139,741,997 (GRCm39)	I289V	probably benign	Het
Osbpl1a	T	C	18: 12,901,649 (GRCm39)	E619G	probably benign	Het
Pfkl	T	C	10: 77,837,289 (GRCm39)	R95G	probably benign	Het
Plat	T	A	8: 23,268,521 (GRCm39)	I391K	possibly damaging	Het
Ppp1r21	A	G	17: 88,862,314 (GRCm39)	H244R	probably damaging	Het
Rapgef3	G	C	15: 97,651,758 (GRCm39)	H578Q	probably benign	Het
Rnf145	C	A	11: 44,415,822 (GRCm39)	N12K	probably damaging	Het
Sfxn5	C	T	6: 85,309,405 (GRCm39)	C100Y	unknown	Het
Sh3rf1	T	A	8: 61,825,748 (GRCm39)	L581Q	possibly damaging	Het
Sipa1l2	T	C	8: 126,195,078 (GRCm39)	K887E	probably benign	Het
Spopfm2	A	G	3: 94,083,526 (GRCm39)	I95T	probably benign	Het
Stard9	C	A	2: 120,531,795 (GRCm39)	T2684N	probably benign	Het
Stard9	A	C	2: 120,535,023 (GRCm39)	Q3760P	probably benign	Het
Stpg2	A	G	3: 138,921,056 (GRCm39)	E87G	probably benign	Het
Syne2	A	G	12: 76,106,231 (GRCm39)	Q792R	possibly damaging	Het
Taf7	T	C	18: 37,775,601 (GRCm39)	D322G	possibly damaging	Het
Tbc1d1	A	G	5: 64,331,156 (GRCm39)	S112G	possibly damaging	Het
Tbx3	A	G	5: 119,810,093 (GRCm39)	M5V	possibly damaging	Het
Tmem45b	A	T	9: 31,339,328 (GRCm39)	I215N	possibly damaging	Het
Tpd52	G	A	3: 9,028,916 (GRCm39)	Q43*	probably null	Het
Trpa1	T	A	1: 14,952,457 (GRCm39)	N858I	possibly damaging	Het
Ttll5	A	G	12: 85,972,538 (GRCm39)	D767G	probably damaging	Het
Vmn2r3	G	A	3: 64,194,732 (GRCm39)	T62I	probably benign	Het
Wdr59	A	T	8: 112,185,367 (GRCm39)	N874K		Het

Other mutations in Atr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Atr	APN	9	95,747,105 (GRCm39)	missense	probably damaging	1.00
IGL00922:Atr	APN	9	95,789,398 (GRCm39)	missense	probably damaging	0.97
IGL01020:Atr	APN	9	95,744,836 (GRCm39)	missense	probably damaging	1.00
IGL01345:Atr	APN	9	95,823,002 (GRCm39)	missense	probably damaging	1.00
IGL01364:Atr	APN	9	95,747,677 (GRCm39)	missense	probably benign	0.29
IGL01456:Atr	APN	9	95,832,618 (GRCm39)	missense	possibly damaging	0.62
IGL01534:Atr	APN	9	95,747,599 (GRCm39)	missense	probably damaging	0.99
IGL01761:Atr	APN	9	95,833,501 (GRCm39)	splice site	probably benign
IGL01791:Atr	APN	9	95,803,834 (GRCm39)	missense	probably benign	0.05
IGL01831:Atr	APN	9	95,752,807 (GRCm39)	missense	probably benign	0.18
IGL01973:Atr	APN	9	95,753,727 (GRCm39)	missense	probably damaging	1.00
IGL02008:Atr	APN	9	95,763,473 (GRCm39)	splice site	probably benign
IGL02016:Atr	APN	9	95,809,228 (GRCm39)	missense	probably benign	0.09
IGL02035:Atr	APN	9	95,748,735 (GRCm39)	missense	probably benign	0.01
IGL02058:Atr	APN	9	95,753,540 (GRCm39)	missense	probably damaging	0.99
IGL02081:Atr	APN	9	95,765,258 (GRCm39)	missense	probably damaging	1.00
IGL02224:Atr	APN	9	95,760,682 (GRCm39)	missense	probably damaging	0.98
IGL02234:Atr	APN	9	95,829,303 (GRCm39)	splice site	probably benign
IGL02367:Atr	APN	9	95,781,194 (GRCm39)	nonsense	probably null
IGL02621:Atr	APN	9	95,790,453 (GRCm39)	missense	probably benign	0.00
IGL02728:Atr	APN	9	95,818,528 (GRCm39)	missense	probably damaging	1.00
IGL02833:Atr	APN	9	95,744,905 (GRCm39)	missense	probably damaging	1.00
IGL02939:Atr	APN	9	95,747,314 (GRCm39)	missense	probably benign
IGL03107:Atr	APN	9	95,779,783 (GRCm39)	missense	probably benign	0.28
IGL03382:Atr	APN	9	95,802,875 (GRCm39)	nonsense	probably null
PIT4812001:Atr	UTSW	9	95,792,702 (GRCm39)	missense	probably benign	0.41
R0042:Atr	UTSW	9	95,809,409 (GRCm39)	splice site	probably benign
R0042:Atr	UTSW	9	95,809,409 (GRCm39)	splice site	probably benign
R0281:Atr	UTSW	9	95,819,619 (GRCm39)	missense	probably benign	0.26
R0282:Atr	UTSW	9	95,744,851 (GRCm39)	missense	probably benign	0.12
R0512:Atr	UTSW	9	95,817,579 (GRCm39)	missense	probably damaging	0.99
R0547:Atr	UTSW	9	95,781,218 (GRCm39)	splice site	probably benign
R0567:Atr	UTSW	9	95,747,882 (GRCm39)	missense	probably benign	0.00
R0631:Atr	UTSW	9	95,756,830 (GRCm39)	missense	possibly damaging	0.92
R1116:Atr	UTSW	9	95,749,689 (GRCm39)	nonsense	probably null
R1171:Atr	UTSW	9	95,789,376 (GRCm39)	missense	probably damaging	1.00
R1241:Atr	UTSW	9	95,832,689 (GRCm39)	missense	probably benign	0.08
R1345:Atr	UTSW	9	95,802,408 (GRCm39)	missense	probably benign	0.25
R1400:Atr	UTSW	9	95,744,901 (GRCm39)	missense	probably benign	0.32
R1413:Atr	UTSW	9	95,814,495 (GRCm39)	missense	probably damaging	1.00
R1527:Atr	UTSW	9	95,752,096 (GRCm39)	missense	possibly damaging	0.82
R1557:Atr	UTSW	9	95,753,502 (GRCm39)	missense	probably damaging	1.00
R1591:Atr	UTSW	9	95,827,438 (GRCm39)	missense	probably damaging	1.00
R1602:Atr	UTSW	9	95,833,610 (GRCm39)	missense	probably damaging	1.00
R1605:Atr	UTSW	9	95,818,516 (GRCm39)	missense	probably damaging	1.00
R1670:Atr	UTSW	9	95,743,509 (GRCm39)	missense	probably benign	0.38
R1709:Atr	UTSW	9	95,753,129 (GRCm39)	missense	probably benign	0.00
R1728:Atr	UTSW	9	95,779,634 (GRCm39)	missense	probably benign	0.01
R1729:Atr	UTSW	9	95,779,634 (GRCm39)	missense	probably benign	0.01
R1739:Atr	UTSW	9	95,779,634 (GRCm39)	missense	probably benign	0.01
R1816:Atr	UTSW	9	95,748,747 (GRCm39)	missense	probably benign	0.00
R1824:Atr	UTSW	9	95,818,474 (GRCm39)	missense	probably damaging	1.00
R1844:Atr	UTSW	9	95,787,870 (GRCm39)	missense	probably benign	0.01
R1857:Atr	UTSW	9	95,747,150 (GRCm39)	missense	probably damaging	1.00
R1858:Atr	UTSW	9	95,747,150 (GRCm39)	missense	probably damaging	1.00
R1866:Atr	UTSW	9	95,752,658 (GRCm39)	splice site	probably null
R1913:Atr	UTSW	9	95,748,786 (GRCm39)	missense	probably benign	0.01
R2042:Atr	UTSW	9	95,752,075 (GRCm39)	missense	probably benign	0.00
R2210:Atr	UTSW	9	95,789,353 (GRCm39)	missense	probably damaging	1.00
R2230:Atr	UTSW	9	95,802,818 (GRCm39)	missense	probably damaging	1.00
R2361:Atr	UTSW	9	95,753,210 (GRCm39)	missense	probably benign	0.41
R2399:Atr	UTSW	9	95,753,652 (GRCm39)	missense	probably benign	0.00
R2431:Atr	UTSW	9	95,744,945 (GRCm39)	missense	probably benign	0.24
R2860:Atr	UTSW	9	95,756,296 (GRCm39)	missense	probably benign	0.07
R2861:Atr	UTSW	9	95,756,296 (GRCm39)	missense	probably benign	0.07
R3019:Atr	UTSW	9	95,787,871 (GRCm39)	missense	possibly damaging	0.52
R3684:Atr	UTSW	9	95,802,453 (GRCm39)	missense	probably damaging	0.96
R4155:Atr	UTSW	9	95,770,177 (GRCm39)	nonsense	probably null
R4295:Atr	UTSW	9	95,756,479 (GRCm39)	missense	probably benign	0.04
R4359:Atr	UTSW	9	95,833,589 (GRCm39)	missense	probably damaging	1.00
R4506:Atr	UTSW	9	95,747,290 (GRCm39)	missense	probably benign	0.21
R4523:Atr	UTSW	9	95,744,916 (GRCm39)	missense	probably damaging	1.00
R4536:Atr	UTSW	9	95,756,471 (GRCm39)	missense	probably benign	0.26
R4588:Atr	UTSW	9	95,747,720 (GRCm39)	missense	probably benign
R4646:Atr	UTSW	9	95,753,250 (GRCm39)	critical splice donor site	probably null
R4702:Atr	UTSW	9	95,802,408 (GRCm39)	missense	possibly damaging	0.92
R4743:Atr	UTSW	9	95,744,845 (GRCm39)	missense	probably benign	0.14
R4782:Atr	UTSW	9	95,744,850 (GRCm39)	missense	probably benign	0.00
R4928:Atr	UTSW	9	95,789,352 (GRCm39)	missense	probably damaging	1.00
R5031:Atr	UTSW	9	95,747,755 (GRCm39)	missense	probably damaging	0.98
R5138:Atr	UTSW	9	95,819,649 (GRCm39)	missense	probably benign	0.15
R5188:Atr	UTSW	9	95,803,778 (GRCm39)	missense	probably benign	0.00
R5219:Atr	UTSW	9	95,763,291 (GRCm39)	missense	probably damaging	0.99
R5307:Atr	UTSW	9	95,760,597 (GRCm39)	missense	probably benign	0.01
R5414:Atr	UTSW	9	95,752,757 (GRCm39)	missense	probably benign	0.00
R5628:Atr	UTSW	9	95,756,279 (GRCm39)	nonsense	probably null
R5664:Atr	UTSW	9	95,787,866 (GRCm39)	missense	probably benign	0.00
R5678:Atr	UTSW	9	95,833,540 (GRCm39)	nonsense	probably null
R5724:Atr	UTSW	9	95,748,641 (GRCm39)	missense	probably damaging	1.00
R5759:Atr	UTSW	9	95,756,455 (GRCm39)	missense	probably benign	0.01
R5763:Atr	UTSW	9	95,827,176 (GRCm39)	missense	probably benign	0.04
R5922:Atr	UTSW	9	95,785,735 (GRCm39)	missense	probably benign	0.00
R6051:Atr	UTSW	9	95,790,422 (GRCm39)	missense	possibly damaging	0.85
R6161:Atr	UTSW	9	95,747,372 (GRCm39)	missense	probably benign
R6171:Atr	UTSW	9	95,763,324 (GRCm39)	nonsense	probably null
R6532:Atr	UTSW	9	95,790,461 (GRCm39)	missense	probably benign
R6774:Atr	UTSW	9	95,809,266 (GRCm39)	missense	probably benign	0.00
R6894:Atr	UTSW	9	95,809,250 (GRCm39)	missense	probably damaging	1.00
R6930:Atr	UTSW	9	95,748,688 (GRCm39)	missense	probably benign	0.21
R7018:Atr	UTSW	9	95,748,747 (GRCm39)	missense	probably benign	0.17
R7056:Atr	UTSW	9	95,744,916 (GRCm39)	missense	probably damaging	1.00
R7103:Atr	UTSW	9	95,747,425 (GRCm39)	missense	probably damaging	0.98
R7157:Atr	UTSW	9	95,751,953 (GRCm39)	missense	probably benign	0.00
R7188:Atr	UTSW	9	95,744,844 (GRCm39)	nonsense	probably null
R7189:Atr	UTSW	9	95,744,844 (GRCm39)	nonsense	probably null
R7300:Atr	UTSW	9	95,747,423 (GRCm39)	missense	probably benign	0.00
R7337:Atr	UTSW	9	95,753,501 (GRCm39)	missense	probably damaging	1.00
R7584:Atr	UTSW	9	95,824,766 (GRCm39)	missense	probably damaging	1.00
R7602:Atr	UTSW	9	95,789,436 (GRCm39)	missense	possibly damaging	0.64
R7633:Atr	UTSW	9	95,829,171 (GRCm39)	missense	probably damaging	1.00
R7640:Atr	UTSW	9	95,789,346 (GRCm39)	splice site	probably null
R7677:Atr	UTSW	9	95,767,515 (GRCm39)	missense	probably damaging	1.00
R7699:Atr	UTSW	9	95,757,743 (GRCm39)	nonsense	probably null
R7700:Atr	UTSW	9	95,757,743 (GRCm39)	nonsense	probably null
R7790:Atr	UTSW	9	95,756,233 (GRCm39)	missense	probably damaging	1.00
R8027:Atr	UTSW	9	95,747,809 (GRCm39)	missense	probably damaging	0.99
R8147:Atr	UTSW	9	95,781,113 (GRCm39)	missense	probably damaging	1.00
R8204:Atr	UTSW	9	95,817,566 (GRCm39)	missense
R8306:Atr	UTSW	9	95,802,423 (GRCm39)	missense
R8462:Atr	UTSW	9	95,749,579 (GRCm39)	missense	probably benign
R8716:Atr	UTSW	9	95,789,468 (GRCm39)	missense	probably benign	0.09
R8748:Atr	UTSW	9	95,814,476 (GRCm39)	missense	probably benign	0.00
R8795:Atr	UTSW	9	95,749,584 (GRCm39)	missense	probably damaging	1.00
R8891:Atr	UTSW	9	95,787,813 (GRCm39)	missense	probably benign	0.03
R8976:Atr	UTSW	9	95,772,819 (GRCm39)	missense	probably benign	0.00
R9024:Atr	UTSW	9	95,789,416 (GRCm39)	missense	possibly damaging	0.93
R9116:Atr	UTSW	9	95,747,851 (GRCm39)	missense	probably benign	0.00
R9523:Atr	UTSW	9	95,792,610 (GRCm39)	missense	possibly damaging	0.89
R9524:Atr	UTSW	9	95,792,610 (GRCm39)	missense	possibly damaging	0.89
R9525:Atr	UTSW	9	95,792,610 (GRCm39)	missense	possibly damaging	0.89
R9527:Atr	UTSW	9	95,767,429 (GRCm39)	missense	probably damaging	1.00
R9563:Atr	UTSW	9	95,802,833 (GRCm39)	missense	probably damaging	0.98
R9629:Atr	UTSW	9	95,747,098 (GRCm39)	missense	probably benign
R9642:Atr	UTSW	9	95,821,294 (GRCm39)	missense	probably damaging	1.00
R9652:Atr	UTSW	9	95,756,887 (GRCm39)	missense	probably damaging	1.00
R9660:Atr	UTSW	9	95,797,050 (GRCm39)	missense	probably benign	0.40
R9678:Atr	UTSW	9	95,792,610 (GRCm39)	missense	possibly damaging	0.89
R9728:Atr	UTSW	9	95,797,050 (GRCm39)	missense	probably benign	0.40
R9731:Atr	UTSW	9	95,747,092 (GRCm39)	missense	possibly damaging	0.52
R9732:Atr	UTSW	9	95,743,438 (GRCm39)	missense	probably damaging	1.00
R9749:Atr	UTSW	9	95,819,703 (GRCm39)	critical splice donor site	probably null
X0019:Atr	UTSW	9	95,822,924 (GRCm39)	missense	probably damaging	1.00
Z1088:Atr	UTSW	9	95,767,373 (GRCm39)	splice site	probably null
Z1177:Atr	UTSW	9	95,770,153 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAAGTACAGGCTTTCTATCATGTCG -3'
(R):5'- CCCATATGTTCATCCAATCGGC -3'

Sequencing Primer
(F):5'- CAGGCTTTCTATCATGTCGAAATG -3'
(R):5'- TGTTCATCCAATCGGCTTAAAAACCG -3'

Posted On

2019-06-26