Mutagenetix > Incidental Mutation

Incidental Mutation 'R8891:Atr'

677696

Institutional Source

Beutler Lab

Gene Symbol

Atr

Ensembl Gene

ENSMUSG00000032409

Gene Name

ataxia telangiectasia and Rad3 related

Synonyms

MMRRC Submission

068753-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95739650-95833834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95787813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1469 (T1469A)

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: T1469A

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: T1469A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,520 (GRCm39)	K570*	probably null	Het
Abi1	T	C	2: 22,861,262 (GRCm39)	I99V	probably damaging	Het
Abtb3	G	A	10: 85,223,958 (GRCm39)	G256R	unknown	Het
Adgrg7	T	A	16: 56,572,762 (GRCm39)	E351D	probably benign	Het
Ankrd34c	T	G	9: 89,612,143 (GRCm39)	K66T	probably damaging	Het
Asap2	C	T	12: 21,162,144 (GRCm39)	R34W	probably damaging	Het
Ccdc168	T	C	1: 44,096,284 (GRCm39)	I1605V	probably benign	Het
Celsr1	G	T	15: 85,822,194 (GRCm39)	R1708S	probably benign	Het
Chmp2a	T	A	7: 12,767,840 (GRCm39)	E28D	probably benign	Het
Cldn24	A	T	8: 48,275,281 (GRCm39)	N35I	probably benign	Het
Coa6	G	C	8: 127,149,570 (GRCm39)		probably null	Het
Copa	C	T	1: 171,946,818 (GRCm39)	R1009C	probably damaging	Het
Crybb2	G	A	5: 113,209,913 (GRCm39)	T150M	possibly damaging	Het
Ctnnd2	A	T	15: 30,620,076 (GRCm39)	T143S	probably benign	Het
Eid3	A	G	10: 82,702,992 (GRCm39)	N151S	probably damaging	Het
Fbxo17	G	T	7: 28,434,733 (GRCm39)	V173L	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,415,433 (GRCm39)	N240S	probably damaging	Het
Gck	G	T	11: 5,851,733 (GRCm39)	S445R	probably damaging	Het
Gm5114	C	A	7: 39,057,718 (GRCm39)	V634F	probably benign	Het
Gnat2	G	A	3: 108,005,634 (GRCm39)	D200N		Het
H13	A	G	2: 152,546,049 (GRCm39)	N390S	probably benign	Het
Helz	T	A	11: 107,552,842 (GRCm39)	M1206K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank1	G	A	19: 25,387,439 (GRCm39)	G371R	probably benign	Het
Kif13b	A	G	14: 64,982,326 (GRCm39)	T513A	probably damaging	Het
L3mbtl4	T	C	17: 68,762,781 (GRCm39)	S105P	possibly damaging	Het
Lpo	T	A	11: 87,697,848 (GRCm39)	E653V	probably benign	Het
Lyst	A	G	13: 13,887,435 (GRCm39)	D3088G	possibly damaging	Het
Man2b1	C	A	8: 85,811,084 (GRCm39)	H72N	probably damaging	Het
Mast3	A	T	8: 71,233,801 (GRCm39)	H981Q	probably damaging	Het
Meioc	T	A	11: 102,559,246 (GRCm39)	I56N	probably benign	Het
Mul1	A	C	4: 138,162,164 (GRCm39)	K32Q	probably benign	Het
Oas1c	C	T	5: 120,946,126 (GRCm39)	S124N	probably benign	Het
Omg	T	A	11: 79,393,829 (GRCm39)	K10*	probably null	Het
Or2a52	A	G	6: 43,144,750 (GRCm39)	I253V	probably benign	Het
Or4k52	A	T	2: 111,611,186 (GRCm39)	I174F	probably damaging	Het
Or6c88	A	G	10: 129,407,046 (GRCm39)	H174R	probably damaging	Het
Pcdhb14	T	A	18: 37,582,692 (GRCm39)	N599K	probably damaging	Het
Pcdhb18	C	A	18: 37,623,700 (GRCm39)	N343K	probably damaging	Het
Phf7	C	A	14: 30,971,613 (GRCm39)		probably benign	Het
Pramel15	C	T	4: 144,099,397 (GRCm39)	C456Y	probably damaging	Het
Qdpr	T	C	5: 45,604,982 (GRCm39)	N42S	probably damaging	Het
Rbm44	T	A	1: 91,090,136 (GRCm39)	D716E	probably benign	Het
Rprd2	A	C	3: 95,671,367 (GRCm39)	H1345Q	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,814,768 (GRCm39)	A668V	probably damaging	Het
Sag	T	A	1: 87,759,683 (GRCm39)	L307Q	probably damaging	Het
Sash1	G	A	10: 8,603,734 (GRCm39)	P1106L	probably damaging	Het
Sec16b	T	A	1: 157,382,409 (GRCm39)	I615N	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,628,993 (GRCm39)	V600A	probably benign	Het
Sucnr1	A	G	3: 59,994,263 (GRCm39)	T264A	probably benign	Het
Tbx3	A	G	5: 119,809,983 (GRCm39)		probably benign	Het
Tigd5	T	C	15: 75,783,069 (GRCm39)	V477A	possibly damaging	Het
Tle7	T	A	8: 110,836,763 (GRCm39)	S216R	possibly damaging	Het
Ttc17	G	A	2: 94,192,764 (GRCm39)	A89V	probably damaging	Het
Twsg1	A	G	17: 66,255,657 (GRCm39)	I39T		Het
Zfp184	T	C	13: 22,143,512 (GRCm39)	F406S	probably damaging	Het
Zfp429	A	T	13: 67,538,830 (GRCm39)	C205S	probably damaging	Het
Zfp59	T	A	7: 27,554,313 (GRCm39)	D588E	probably benign	Het
Zfp64	A	T	2: 168,797,083 (GRCm39)	M1K	probably null	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
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'- TGTACTCAGATTCTAAGGTGCAC -3'
(R):5'- CATGTGCTTTGCATTCAGGTATATG -3'

Sequencing Primer
(F):5'- CTGAGGAGTATATAATGACCTGCTCC -3'
(R):5'- CAGGTATATGTTCCAGATTCTTCCAG -3'

Posted On

2021-08-02