Mutagenetix > Incidental Mutation

Incidental Mutation 'R9660:Atr'

727531

Institutional Source

Beutler Lab

Gene Symbol

Atr

Ensembl Gene

ENSMUSG00000032409

Gene Name

ataxia telangiectasia and Rad3 related

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9660 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95739650-95833834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95797050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1698 (A1698T)

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: A1692T

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: A1698T

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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
Abca14	A	G	7: 119,851,478 (GRCm39)	M819V	probably benign	Het
Abca5	T	A	11: 110,168,248 (GRCm39)	T1461S	possibly damaging	Het
Actl6b	C	T	5: 137,562,766 (GRCm39)	R161C	probably damaging	Het
Aoc3	C	G	11: 101,221,914 (GRCm39)	P50R	possibly damaging	Het
Caml	T	A	13: 55,779,670 (GRCm39)	S248T	possibly damaging	Het
Cdh11	C	T	8: 103,384,879 (GRCm39)	G399S	possibly damaging	Het
Chrna10	G	T	7: 101,761,416 (GRCm39)	L392I	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Copg1	A	G	6: 87,879,225 (GRCm39)	I424V	probably damaging	Het
Cwh43	A	T	5: 73,565,629 (GRCm39)	N65Y	possibly damaging	Het
Defb1	A	G	8: 22,284,486 (GRCm39)	Y35C	probably damaging	Het
Disp2	T	C	2: 118,620,627 (GRCm39)	V453A	probably benign	Het
Dpp9	A	G	17: 56,494,458 (GRCm39)	Y834H	probably damaging	Het
Emsy	A	G	7: 98,262,285 (GRCm39)	I598T	possibly damaging	Het
Entpd2	C	T	2: 25,288,153 (GRCm39)	R126C	probably damaging	Het
Fbxl17	A	T	17: 63,806,426 (GRCm39)	M196K	probably benign	Het
Gcc1	T	C	6: 28,420,544 (GRCm39)	R258G	probably damaging	Het
Gga2	A	T	7: 121,606,494 (GRCm39)	M157K	possibly damaging	Het
Gna11	T	C	10: 81,370,918 (GRCm39)	N106S	probably benign	Het
Gtf3c1	A	C	7: 125,262,199 (GRCm39)	S1116A	possibly damaging	Het
Gucy2d	C	A	7: 98,099,064 (GRCm39)	D294E	probably damaging	Het
Igkv12-46	G	T	6: 69,741,967 (GRCm39)	P4T	possibly damaging	Het
Iqcf5	A	T	9: 106,393,168 (GRCm39)	I142L	probably damaging	Het
Klhdc9	A	G	1: 171,187,357 (GRCm39)	S214P	probably damaging	Het
Kmt2e	T	C	5: 23,683,617 (GRCm39)	Y292H	probably damaging	Het
Lgr6	A	G	1: 134,915,245 (GRCm39)	L778P	probably damaging	Het
Lrrk2	A	G	15: 91,618,228 (GRCm39)	N909S	probably benign	Het
Ly75	A	G	2: 60,154,184 (GRCm39)	S1088P	probably damaging	Het
Mei1	G	A	15: 81,966,098 (GRCm39)	G240D		Het
Miox	A	T	15: 89,218,703 (GRCm39)		probably benign	Het
Myo1e	A	G	9: 70,223,924 (GRCm39)	Y128C	probably damaging	Het
Necab2	T	C	8: 120,189,403 (GRCm39)	V191A	possibly damaging	Het
Nlrp9a	T	A	7: 26,256,915 (GRCm39)	Y178N	probably damaging	Het
Nr4a3	A	G	4: 48,051,353 (GRCm39)	T36A	probably benign	Het
Nup210l	A	G	3: 90,105,402 (GRCm39)	T1517A	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or4a27	T	C	2: 88,559,142 (GRCm39)	K267R	probably damaging	Het
Or4g17	T	G	2: 111,210,239 (GRCm39)	I298R	probably damaging	Het
Or4p23	T	C	2: 88,576,872 (GRCm39)	Y120C	probably damaging	Het
Or51h7	C	T	7: 102,591,259 (GRCm39)	C175Y	probably damaging	Het
Pcnx2	A	T	8: 126,487,592 (GRCm39)	S1804T	probably damaging	Het
Pdcd11	T	A	19: 47,082,191 (GRCm39)	V35D	possibly damaging	Het
Pde10a	C	A	17: 9,170,370 (GRCm39)	T347K	probably damaging	Het
Rcc1l	A	G	5: 134,182,977 (GRCm39)	Y432H	probably benign	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Ripor3	T	A	2: 167,831,646 (GRCm39)	D385V	probably damaging	Het
Rrbp1	T	C	2: 143,831,178 (GRCm39)	K330E	probably damaging	Het
Ryr3	T	G	2: 112,664,074 (GRCm39)	D1759A	probably benign	Het
Scube3	A	G	17: 28,371,414 (GRCm39)	D43G	probably benign	Het
Sec24b	A	G	3: 129,790,422 (GRCm39)	I701T	probably damaging	Het
Setd5	G	T	6: 113,128,366 (GRCm39)	V1440L	probably benign	Het
Sik3	A	G	9: 46,106,142 (GRCm39)	K337E	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc1a6	T	A	10: 78,648,698 (GRCm39)	M473K	probably benign	Het
Spag16	A	G	1: 69,962,842 (GRCm39)	R330G	probably benign	Het
Spag6	C	A	2: 18,704,047 (GRCm39)	Q32K	probably benign	Het
Sspo	G	A	6: 48,432,707 (GRCm39)	G861D	probably damaging	Het
Togaram2	T	A	17: 72,024,365 (GRCm39)	S850T	probably damaging	Het
Trbv15	A	T	6: 41,118,550 (GRCm39)	E102V	possibly damaging	Het
Trim43b	G	T	9: 88,973,395 (GRCm39)	H113N	probably benign	Het
Trpm2	T	A	10: 77,766,389 (GRCm39)	I877L	probably benign	Het
Ttn	T	C	2: 76,599,152 (GRCm39)	I19286V	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tubb6	A	G	18: 67,534,671 (GRCm39)	H190R	probably benign	Het
Vmn1r214	T	C	13: 23,219,007 (GRCm39)	V167A	probably benign	Het
Vwf	C	A	6: 125,568,670 (GRCm39)	L398I	possibly damaging	Het
Zfp9	G	T	6: 118,443,851 (GRCm39)	A58E	probably benign	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
R7154:Atr	UTSW	9	95,747,098 (GRCm39)	missense	probably benign
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
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'- AGTGTCAAGGTAACAGGATGCC -3'
(R):5'- TCCAGATACATATGACACTGAGC -3'

Sequencing Primer
(F):5'- GCCTGAAAAATTACTGTGATTCTGCC -3'
(R):5'- TGACACTGAGCAATATGGTTTTG -3'

Posted On

2022-10-06