Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Atm'

429942

Institutional Source

Beutler Lab

Gene Symbol

Atm

Ensembl Gene

ENSMUSG00000034218

Gene Name

ataxia telangiectasia mutated

Synonyms

C030026E19Rik

MMRRC Submission

042971-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53439149-53536740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53503018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 924 (D924G)

Ref Sequence

ENSEMBL: ENSMUSP00000156344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118282] [ENSMUST00000232179]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000118282
AA Change: D924G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113388
Gene: ENSMUSG00000034218
AA Change: D924G

Domain	Start	End	E-Value	Type
TAN	1	166	5.07e-68	SMART
low complexity region	431	445	N/A	INTRINSIC
low complexity region	830	846	N/A	INTRINSIC
low complexity region	929	940	N/A	INTRINSIC
SCOP:d1gw5a_	1039	1568	2e-4	SMART
coiled coil region	1615	1644	N/A	INTRINSIC
low complexity region	1650	1662	N/A	INTRINSIC
Pfam:FAT	2102	2499	4.4e-50	PFAM
low complexity region	2587	2599	N/A	INTRINSIC
PI3Kc	2723	3026	1.11e-117	SMART
FATC	3034	3066	3.71e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000232179
AA Change: D924G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.3010

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

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 to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	C	2: 93,859,422 (GRCm38)	D380G	probably damaging	Het
Afm	T	C	5: 90,551,398 (GRCm38)	L567P	possibly damaging	Het
Anks1b	A	T	10: 90,512,824 (GRCm38)	I785L	probably damaging	Het
Arpc5l	G	A	2: 39,013,735 (GRCm38)	G79S	probably benign	Het
Arvcf	G	T	16: 18,399,070 (GRCm38)	R440L	probably benign	Het
Atp8b1	A	T	18: 64,545,989 (GRCm38)		probably null	Het
Cd19	C	T	7: 126,414,452 (GRCm38)	G55D	probably benign	Het
Cd34	A	G	1: 194,938,958 (GRCm38)		probably benign	Het
Cd69	T	A	6: 129,269,991 (GRCm38)	M88L	probably benign	Het
Ces2h	A	G	8: 105,018,425 (GRCm38)	E397G	probably benign	Het
Ddx60	T	C	8: 62,010,002 (GRCm38)	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 149,000,016 (GRCm38)	E1124G	probably damaging	Het
Dio1	A	T	4: 107,306,988 (GRCm38)	M44K	probably damaging	Het
Elapor2	A	T	5: 9,479,247 (GRCm38)	N1027Y	probably damaging	Het
En1	A	G	1: 120,603,595 (GRCm38)	D188G	probably damaging	Het
Epha10	C	T	4: 124,914,121 (GRCm38)		probably benign	Het
Fam120b	A	T	17: 15,403,126 (GRCm38)	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,651,034 (GRCm38)		probably null	Het
Gm38394	G	A	1: 133,658,141 (GRCm38)	T486I	probably damaging	Het
Incenp	A	G	19: 9,877,675 (GRCm38)		probably null	Het
Kansl3	A	G	1: 36,358,149 (GRCm38)	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,126,920 (GRCm38)	F73L	probably damaging	Het
Med28	T	A	5: 45,525,199 (GRCm38)	V69D	probably damaging	Het
Mknk1	C	A	4: 115,864,552 (GRCm38)	L98M	probably damaging	Het
Mknk1	T	A	4: 115,864,553 (GRCm38)	L98Q	probably damaging	Het
Myo3b	T	A	2: 70,105,380 (GRCm38)	C97S	probably damaging	Het
Neto1	A	G	18: 86,395,908 (GRCm38)	H9R	possibly damaging	Het
Omd	A	T	13: 49,592,227 (GRCm38)	E371V	probably benign	Het
Or1n2	A	T	2: 36,907,821 (GRCm38)	I292F	probably damaging	Het
Or2w3b	T	C	11: 58,732,320 (GRCm38)	T282A	possibly damaging	Het
Or4c123	T	C	2: 89,296,913 (GRCm38)	D119G	probably damaging	Het
Or51e2	G	A	7: 102,742,430 (GRCm38)	T191I	probably benign	Het
Osbpl9	G	T	4: 109,062,300 (GRCm38)	Y733*	probably null	Het
Pcdh12	A	T	18: 38,268,898 (GRCm38)	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911 (GRCm38)	P144Q	probably benign	Het
Qser1	A	G	2: 104,789,874 (GRCm38)	S198P	probably damaging	Het
Recql	T	G	6: 142,362,347 (GRCm38)		probably benign	Het
Reln	T	C	5: 21,979,714 (GRCm38)	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,609,034 (GRCm38)	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,769,908 (GRCm38)	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495 (GRCm38)	R265L	probably benign	Het
Shoc1	A	G	4: 59,082,432 (GRCm38)	S399P	possibly damaging	Het
Slc13a4	A	T	6: 35,301,842 (GRCm38)	C37*	probably null	Het
Slc22a30	G	A	19: 8,344,393 (GRCm38)	Q436*	probably null	Het
Slc9a9	T	A	9: 94,712,901 (GRCm38)	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,281 (GRCm38)	K1193M	probably damaging	Het
Swt1	T	C	1: 151,412,834 (GRCm38)	T80A	probably benign	Het
Tmc1	A	G	19: 20,804,602 (GRCm38)	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,417,054 (GRCm38)	F324L	probably benign	Het
Usp19	T	C	9: 108,500,193 (GRCm38)	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,928,211 (GRCm38)	N301S	probably benign	Het
Wrn	C	T	8: 33,294,917 (GRCm38)	V476I	probably benign	Het
Zbtb25	C	A	12: 76,349,702 (GRCm38)	E249*	probably null	Het
Zfp54	C	A	17: 21,433,700 (GRCm38)	T152K	probably benign	Het

Other mutations in Atm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Atm	APN	9	53,524,443 (GRCm38)	missense	probably damaging	1.00
IGL00466:Atm	APN	9	53,499,112 (GRCm38)	splice site	probably benign
IGL00567:Atm	APN	9	53,503,116 (GRCm38)	nonsense	probably null
IGL00702:Atm	APN	9	53,511,831 (GRCm38)	missense	probably benign	0.02
IGL00743:Atm	APN	9	53,513,116 (GRCm38)	missense	probably benign	0.00
IGL00771:Atm	APN	9	53,493,054 (GRCm38)	missense	probably benign	0.01
IGL00773:Atm	APN	9	53,522,144 (GRCm38)	missense	probably benign	0.00
IGL00819:Atm	APN	9	53,518,531 (GRCm38)	missense	probably damaging	1.00
IGL00864:Atm	APN	9	53,533,933 (GRCm38)	missense	probably damaging	0.99
IGL00985:Atm	APN	9	53,459,816 (GRCm38)	missense	probably damaging	0.98
IGL01109:Atm	APN	9	53,490,293 (GRCm38)	missense	probably damaging	1.00
IGL01120:Atm	APN	9	53,461,122 (GRCm38)	critical splice acceptor site	probably null
IGL01369:Atm	APN	9	53,515,317 (GRCm38)	missense	probably benign
IGL01374:Atm	APN	9	53,531,724 (GRCm38)	missense	possibly damaging	0.58
IGL01406:Atm	APN	9	53,439,746 (GRCm38)	makesense	probably null
IGL01409:Atm	APN	9	53,499,171 (GRCm38)	missense	probably benign	0.01
IGL01434:Atm	APN	9	53,507,807 (GRCm38)	missense	probably benign	0.04
IGL01486:Atm	APN	9	53,510,213 (GRCm38)	missense	probably benign
IGL01583:Atm	APN	9	53,484,247 (GRCm38)	splice site	probably benign
IGL01861:Atm	APN	9	53,494,612 (GRCm38)	missense	probably null	0.89
IGL01865:Atm	APN	9	53,461,002 (GRCm38)	missense	probably damaging	1.00
IGL02026:Atm	APN	9	53,442,417 (GRCm38)	splice site	probably null
IGL02072:Atm	APN	9	53,459,796 (GRCm38)	missense	probably benign	0.01
IGL02075:Atm	APN	9	53,527,237 (GRCm38)	missense	probably damaging	1.00
IGL02127:Atm	APN	9	53,487,983 (GRCm38)	missense	probably damaging	1.00
IGL02175:Atm	APN	9	53,480,665 (GRCm38)	missense	probably damaging	0.99
IGL02246:Atm	APN	9	53,527,185 (GRCm38)	missense	probably benign	0.12
IGL02259:Atm	APN	9	53,518,494 (GRCm38)	splice site	probably benign
IGL02351:Atm	APN	9	53,522,176 (GRCm38)	missense	probably benign	0.04
IGL02358:Atm	APN	9	53,522,176 (GRCm38)	missense	probably benign	0.04
IGL02387:Atm	APN	9	53,479,766 (GRCm38)	splice site	probably null
IGL02417:Atm	APN	9	53,479,695 (GRCm38)	missense	probably benign	0.00
IGL02422:Atm	APN	9	53,500,792 (GRCm38)	missense	probably damaging	1.00
IGL02445:Atm	APN	9	53,454,330 (GRCm38)	missense	probably benign	0.00
IGL02492:Atm	APN	9	53,455,859 (GRCm38)	missense	probably damaging	0.99
IGL02513:Atm	APN	9	53,497,262 (GRCm38)	splice site	probably benign
IGL02633:Atm	APN	9	53,448,153 (GRCm38)	missense	probably damaging	1.00
IGL02634:Atm	APN	9	53,516,563 (GRCm38)	missense	probably benign	0.00
IGL02948:Atm	APN	9	53,453,440 (GRCm38)	splice site	probably benign
IGL02959:Atm	APN	9	53,471,418 (GRCm38)	missense	probably damaging	1.00
IGL02965:Atm	APN	9	53,453,563 (GRCm38)	missense	probably damaging	1.00
IGL03085:Atm	APN	9	53,484,171 (GRCm38)	missense	possibly damaging	0.89
antebellum	UTSW	9	53,518,559 (GRCm38)	nonsense	probably null
bull_run	UTSW	9	53,487,922 (GRCm38)	missense	probably benign	0.09
Civil	UTSW	9	53,492,268 (GRCm38)	missense	possibly damaging	0.78
gettysburg	UTSW	9	53,455,988 (GRCm38)	splice site	probably null
Grant	UTSW	9	53,511,917 (GRCm38)	nonsense	probably null
Indicative	UTSW	9	53,445,376 (GRCm38)	splice site	probably null
Marker	UTSW	9	53,454,279 (GRCm38)	splice site	probably benign
maunder	UTSW	9	53,499,197 (GRCm38)	nonsense	probably null
mockingbird	UTSW	9	53,516,467 (GRCm38)	nonsense	probably null
mockingbird2	UTSW	9	53,488,587 (GRCm38)	missense	probably damaging	1.00
osphere	UTSW	9	53,479,673 (GRCm38)	missense	probably damaging	0.99
shiloh	UTSW	9	53,465,298 (GRCm38)	missense	probably damaging	1.00
Strato	UTSW	9	53,503,018 (GRCm38)	missense	probably damaging	1.00
thrasher	UTSW	9	53,445,507 (GRCm38)	missense	probably benign	0.01
Tropo	UTSW	9	53,531,648 (GRCm38)	missense	probably damaging	1.00
P0019:Atm	UTSW	9	53,465,028 (GRCm38)	splice site	probably benign
PIT4403001:Atm	UTSW	9	53,500,982 (GRCm38)	missense	probably benign
PIT4687001:Atm	UTSW	9	53,486,812 (GRCm38)	critical splice donor site	probably null
R0004:Atm	UTSW	9	53,453,528 (GRCm38)	splice site	probably benign
R0035:Atm	UTSW	9	53,513,180 (GRCm38)	missense	probably benign	0.01
R0098:Atm	UTSW	9	53,518,569 (GRCm38)	missense	probably benign	0.10
R0098:Atm	UTSW	9	53,518,569 (GRCm38)	missense	probably benign	0.10
R0201:Atm	UTSW	9	53,454,279 (GRCm38)	splice site	probably benign
R0304:Atm	UTSW	9	53,516,344 (GRCm38)	missense	probably benign	0.34
R0308:Atm	UTSW	9	53,454,473 (GRCm38)	splice site	probably null
R0362:Atm	UTSW	9	53,458,838 (GRCm38)	missense	possibly damaging	0.90
R0470:Atm	UTSW	9	53,460,966 (GRCm38)	missense	probably damaging	1.00
R0513:Atm	UTSW	9	53,503,948 (GRCm38)	missense	probably benign	0.00
R0589:Atm	UTSW	9	53,490,192 (GRCm38)	missense	possibly damaging	0.51
R0617:Atm	UTSW	9	53,458,941 (GRCm38)	nonsense	probably null
R0630:Atm	UTSW	9	53,531,622 (GRCm38)	splice site	probably benign
R0652:Atm	UTSW	9	53,486,014 (GRCm38)	missense	probably damaging	0.98
R0698:Atm	UTSW	9	53,515,239 (GRCm38)	missense	probably damaging	1.00
R0737:Atm	UTSW	9	53,456,566 (GRCm38)	missense	probably damaging	1.00
R0885:Atm	UTSW	9	53,459,823 (GRCm38)	missense	probably benign
R0947:Atm	UTSW	9	53,504,092 (GRCm38)	missense	probably benign	0.01
R0948:Atm	UTSW	9	53,495,958 (GRCm38)	missense	probably benign
R1144:Atm	UTSW	9	53,511,698 (GRCm38)	splice site	probably benign
R1252:Atm	UTSW	9	53,455,840 (GRCm38)	missense	probably damaging	1.00
R1295:Atm	UTSW	9	53,456,530 (GRCm38)	missense	probably damaging	1.00
R1296:Atm	UTSW	9	53,456,530 (GRCm38)	missense	probably damaging	1.00
R1419:Atm	UTSW	9	53,457,489 (GRCm38)	missense	probably benign	0.00
R1477:Atm	UTSW	9	53,464,273 (GRCm38)	missense	probably benign	0.00
R1596:Atm	UTSW	9	53,453,378 (GRCm38)	missense	probably damaging	1.00
R1630:Atm	UTSW	9	53,479,673 (GRCm38)	missense	probably damaging	0.99
R1667:Atm	UTSW	9	53,500,932 (GRCm38)	missense	probably damaging	1.00
R1681:Atm	UTSW	9	53,522,155 (GRCm38)	missense	possibly damaging	0.94
R1703:Atm	UTSW	9	53,500,700 (GRCm38)	missense	probably benign
R1817:Atm	UTSW	9	53,492,233 (GRCm38)	splice site	probably benign
R1840:Atm	UTSW	9	53,456,530 (GRCm38)	missense	probably damaging	1.00
R1848:Atm	UTSW	9	53,468,012 (GRCm38)	missense	probably benign	0.06
R1906:Atm	UTSW	9	53,506,568 (GRCm38)	missense	probably damaging	1.00
R1958:Atm	UTSW	9	53,471,418 (GRCm38)	missense	probably damaging	1.00
R2108:Atm	UTSW	9	53,443,997 (GRCm38)	missense	probably damaging	1.00
R2116:Atm	UTSW	9	53,500,969 (GRCm38)	missense	probably benign	0.36
R2134:Atm	UTSW	9	53,467,964 (GRCm38)	critical splice donor site	probably null
R2137:Atm	UTSW	9	53,453,375 (GRCm38)	missense	probably damaging	1.00
R2291:Atm	UTSW	9	53,490,909 (GRCm38)	splice site	probably null
R2348:Atm	UTSW	9	53,492,268 (GRCm38)	missense	possibly damaging	0.78
R2483:Atm	UTSW	9	53,510,266 (GRCm38)	missense	probably damaging	1.00
R2567:Atm	UTSW	9	53,457,470 (GRCm38)	missense	possibly damaging	0.72
R2897:Atm	UTSW	9	53,507,805 (GRCm38)	missense	probably damaging	0.99
R2939:Atm	UTSW	9	53,494,711 (GRCm38)	missense	probably damaging	1.00
R3008:Atm	UTSW	9	53,480,750 (GRCm38)	missense	probably benign	0.00
R3236:Atm	UTSW	9	53,479,748 (GRCm38)	missense	probably benign	0.15
R3847:Atm	UTSW	9	53,503,075 (GRCm38)	missense	possibly damaging	0.94
R3889:Atm	UTSW	9	53,506,636 (GRCm38)	splice site	probably benign
R3919:Atm	UTSW	9	53,492,278 (GRCm38)	missense	probably benign	0.00
R4125:Atm	UTSW	9	53,450,621 (GRCm38)	missense	probably damaging	1.00
R4222:Atm	UTSW	9	53,480,669 (GRCm38)	missense	probably benign
R4395:Atm	UTSW	9	53,465,227 (GRCm38)	missense	probably benign	0.09
R4466:Atm	UTSW	9	53,448,169 (GRCm38)	nonsense	probably null
R4502:Atm	UTSW	9	53,495,946 (GRCm38)	missense	possibly damaging	0.92
R4514:Atm	UTSW	9	53,493,039 (GRCm38)	missense	probably damaging	0.99
R4528:Atm	UTSW	9	53,500,759 (GRCm38)	missense	probably benign	0.39
R4593:Atm	UTSW	9	53,453,594 (GRCm38)	missense	possibly damaging	0.55
R4627:Atm	UTSW	9	53,456,506 (GRCm38)	missense	possibly damaging	0.79
R4634:Atm	UTSW	9	53,531,733 (GRCm38)	missense	probably benign	0.01
R4665:Atm	UTSW	9	53,464,229 (GRCm38)	missense	probably benign	0.00
R4672:Atm	UTSW	9	53,522,201 (GRCm38)	missense	probably damaging	0.99
R4741:Atm	UTSW	9	53,453,607 (GRCm38)	missense	probably benign	0.10
R4808:Atm	UTSW	9	53,445,495 (GRCm38)	missense	probably damaging	0.99
R4959:Atm	UTSW	9	53,515,301 (GRCm38)	missense	probably benign
R4996:Atm	UTSW	9	53,524,507 (GRCm38)	missense	probably benign	0.09
R5030:Atm	UTSW	9	53,520,109 (GRCm38)	nonsense	probably null
R5214:Atm	UTSW	9	53,491,027 (GRCm38)	missense	probably benign	0.09
R5260:Atm	UTSW	9	53,506,611 (GRCm38)	missense	probably damaging	0.99
R5311:Atm	UTSW	9	53,518,623 (GRCm38)	missense	probably benign	0.00
R5394:Atm	UTSW	9	53,507,777 (GRCm38)	critical splice donor site	probably null
R5436:Atm	UTSW	9	53,459,804 (GRCm38)	missense	probably benign	0.00
R5441:Atm	UTSW	9	53,516,467 (GRCm38)	nonsense	probably null
R5569:Atm	UTSW	9	53,516,450 (GRCm38)	nonsense	probably null
R5856:Atm	UTSW	9	53,495,955 (GRCm38)	missense	possibly damaging	0.64
R5891:Atm	UTSW	9	53,497,159 (GRCm38)	missense	probably benign
R5910:Atm	UTSW	9	53,448,080 (GRCm38)	missense	probably damaging	0.96
R6054:Atm	UTSW	9	53,459,873 (GRCm38)	missense	probably damaging	1.00
R6062:Atm	UTSW	9	53,488,587 (GRCm38)	missense	probably damaging	1.00
R6092:Atm	UTSW	9	53,524,414 (GRCm38)	missense	probably damaging	1.00
R6127:Atm	UTSW	9	53,524,509 (GRCm38)	missense	probably damaging	1.00
R6160:Atm	UTSW	9	53,490,959 (GRCm38)	missense	probably benign	0.04
R6267:Atm	UTSW	9	53,444,000 (GRCm38)	missense	probably damaging	1.00
R6273:Atm	UTSW	9	53,487,922 (GRCm38)	missense	probably benign	0.09
R6284:Atm	UTSW	9	53,445,376 (GRCm38)	splice site	probably null
R6478:Atm	UTSW	9	53,490,254 (GRCm38)	missense	probably damaging	1.00
R6547:Atm	UTSW	9	53,440,157 (GRCm38)	missense	probably damaging	1.00
R6549:Atm	UTSW	9	53,493,177 (GRCm38)	missense	probably benign	0.00
R6704:Atm	UTSW	9	53,458,853 (GRCm38)	missense	probably benign	0.02
R6715:Atm	UTSW	9	53,531,648 (GRCm38)	missense	probably damaging	1.00
R6737:Atm	UTSW	9	53,486,051 (GRCm38)	missense	probably benign	0.30
R6759:Atm	UTSW	9	53,518,559 (GRCm38)	nonsense	probably null
R6766:Atm	UTSW	9	53,490,282 (GRCm38)	missense	probably damaging	0.99
R6813:Atm	UTSW	9	53,497,235 (GRCm38)	missense	probably benign	0.00
R6852:Atm	UTSW	9	53,482,430 (GRCm38)	missense	possibly damaging	0.93
R7064:Atm	UTSW	9	53,507,881 (GRCm38)	missense	probably benign	0.02
R7208:Atm	UTSW	9	53,512,008 (GRCm38)	splice site	probably null
R7211:Atm	UTSW	9	53,488,560 (GRCm38)	missense	probably benign	0.01
R7220:Atm	UTSW	9	53,511,917 (GRCm38)	nonsense	probably null
R7336:Atm	UTSW	9	53,462,503 (GRCm38)	missense	possibly damaging	0.47
R7363:Atm	UTSW	9	53,465,298 (GRCm38)	missense	probably damaging	1.00
R7378:Atm	UTSW	9	53,453,437 (GRCm38)	critical splice acceptor site	probably null
R7472:Atm	UTSW	9	53,448,125 (GRCm38)	missense	possibly damaging	0.81
R7487:Atm	UTSW	9	53,524,354 (GRCm38)	missense	probably benign
R7497:Atm	UTSW	9	53,511,891 (GRCm38)	missense	probably benign	0.00
R7584:Atm	UTSW	9	53,513,127 (GRCm38)	missense	probably damaging	0.99
R7624:Atm	UTSW	9	53,454,768 (GRCm38)	missense	probably damaging	0.99
R7653:Atm	UTSW	9	53,490,302 (GRCm38)	nonsense	probably null
R7660:Atm	UTSW	9	53,445,507 (GRCm38)	missense	probably benign	0.01
R7679:Atm	UTSW	9	53,442,497 (GRCm38)	missense	probably damaging	1.00
R7720:Atm	UTSW	9	53,522,239 (GRCm38)	missense	possibly damaging	0.54
R8221:Atm	UTSW	9	53,455,988 (GRCm38)	splice site	probably null
R8247:Atm	UTSW	9	53,450,570 (GRCm38)	missense
R8334:Atm	UTSW	9	53,522,273 (GRCm38)	missense	probably benign	0.00
R8503:Atm	UTSW	9	53,488,052 (GRCm38)	missense	probably damaging	0.99
R8552:Atm	UTSW	9	53,524,497 (GRCm38)	missense	probably damaging	1.00
R8749:Atm	UTSW	9	53,499,197 (GRCm38)	nonsense	probably null
R8838:Atm	UTSW	9	53,516,551 (GRCm38)	missense	probably damaging	0.99
R9126:Atm	UTSW	9	53,458,834 (GRCm38)	missense	probably benign	0.01
R9131:Atm	UTSW	9	53,533,744 (GRCm38)	missense	probably benign	0.10
R9191:Atm	UTSW	9	53,527,290 (GRCm38)	missense	probably benign	0.29
R9257:Atm	UTSW	9	53,495,850 (GRCm38)	critical splice donor site	probably null
R9473:Atm	UTSW	9	53,498,972 (GRCm38)	missense	probably benign
R9558:Atm	UTSW	9	53,500,781 (GRCm38)	missense	probably benign	0.00
R9598:Atm	UTSW	9	53,520,081 (GRCm38)	missense	probably benign	0.34
R9717:Atm	UTSW	9	53,516,517 (GRCm38)	missense	probably damaging	1.00
R9794:Atm	UTSW	9	53,518,567 (GRCm38)	missense	probably benign
X0067:Atm	UTSW	9	53,479,694 (GRCm38)	missense	probably benign	0.00
Z1088:Atm	UTSW	9	53,531,687 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGGCACGATAATAGCACGG -3'
(R):5'- AGCTGGAAAGCTGTTTGAGG -3'

Sequencing Primer
(F):5'- GATAATAGCACGGGCCTCTTACTCTG -3'
(R):5'- AGGTTCTATCTGTCTACCGGGTC -3'

Posted On

2016-09-06