Mutagenetix > Incidental Mutation

Incidental Mutation 'R7487:Atm'

580259

Institutional Source

Beutler Lab

Gene Symbol

Atm

Ensembl Gene

ENSMUSG00000034218

Gene Name

ataxia telangiectasia mutated

Synonyms

C030026E19Rik

MMRRC Submission

045561-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R7487 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53350449-53448040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53435654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 219 (Y219N)

Ref Sequence

ENSEMBL: ENSMUSP00000113388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118282] [ENSMUST00000150244] [ENSMUST00000232179]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000118282
AA Change: Y219N

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

SMART Domains

Protein: ENSMUSP00000113388
Gene: ENSMUSG00000034218
AA Change: Y219N

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 benign
Transcript: ENSMUST00000150244

SMART Domains

Protein: ENSMUSP00000115394
Gene: ENSMUSG00000034218

Domain	Start	End	E-Value	Type
TAN	1	140	2.88e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000232179
AA Change: Y219N

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (89/89)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,629 (GRCm39)	D606V	probably damaging	Het
1700009N14Rik	T	A	4: 39,450,929 (GRCm39)	V45E	probably damaging	Het
2510009E07Rik	C	T	16: 21,472,479 (GRCm39)	V74M	probably damaging	Het
Abca2	C	T	2: 25,327,915 (GRCm39)	T739M	probably benign	Het
Abra	T	C	15: 41,732,949 (GRCm39)	E39G	probably damaging	Het
Adam34	A	T	8: 44,104,191 (GRCm39)	C485S	probably damaging	Het
Add2	G	T	6: 86,070,432 (GRCm39)	V175F	possibly damaging	Het
Alk	T	A	17: 72,256,893 (GRCm39)	K655N	probably benign	Het
Ap3m1	A	G	14: 21,088,107 (GRCm39)	V317A	probably benign	Het
Astn1	A	G	1: 158,438,352 (GRCm39)		probably null	Het
Cep128	C	T	12: 90,966,404 (GRCm39)	A1068T	probably benign	Het
Cep20	T	C	16: 14,128,968 (GRCm39)	D85G	probably benign	Het
Cnksr3	T	C	10: 7,085,097 (GRCm39)	Q250R	probably benign	Het
Cst7	A	G	2: 150,419,624 (GRCm39)	T97A	probably benign	Het
Ctps1	G	A	4: 120,415,997 (GRCm39)	L209F	probably damaging	Het
Cyp2d10	A	T	15: 82,288,793 (GRCm39)	F230I	probably benign	Het
Daam2	T	C	17: 49,793,510 (GRCm39)	N336D	probably benign	Het
Dchs2	T	C	3: 83,263,613 (GRCm39)	S3294P	probably damaging	Het
Dhx36	G	T	3: 62,391,623 (GRCm39)	N574K	possibly damaging	Het
Dock10	G	T	1: 80,562,765 (GRCm39)	Q533K	probably benign	Het
Dync2h1	A	G	9: 7,132,041 (GRCm39)	S1589P	probably benign	Het
Enpp3	T	A	10: 24,681,821 (GRCm39)	Y295F	probably benign	Het
Esrrg	T	A	1: 187,878,620 (GRCm39)	Y234N	probably benign	Het
Fadd	A	C	7: 144,134,462 (GRCm39)	V141G	probably damaging	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fam170b	T	A	14: 32,557,776 (GRCm39)	C204S	probably damaging	Het
Fam186a	T	A	15: 99,840,017 (GRCm39)	I2076F	possibly damaging	Het
Fdxacb1	G	A	9: 50,681,519 (GRCm39)	V147I	possibly damaging	Het
Frem2	C	A	3: 53,561,970 (GRCm39)	V846F	probably benign	Het
Fry	G	A	5: 150,338,039 (GRCm39)	S1449N	possibly damaging	Het
Gucy1b2	A	G	14: 62,685,672 (GRCm39)	F98L	probably damaging	Het
Hps1	T	C	19: 42,744,700 (GRCm39)	Y658C	probably damaging	Het
Igkv3-9	T	A	6: 70,565,506 (GRCm39)	L35Q	probably damaging	Het
Irx2	A	G	13: 72,778,739 (GRCm39)	Y101C	probably damaging	Het
Kcnj11	G	T	7: 45,748,265 (GRCm39)	R353S	probably benign	Het
Kyat3	C	T	3: 142,431,955 (GRCm39)	Q228*	probably null	Het
Lama3	T	A	18: 12,552,294 (GRCm39)	D415E	probably benign	Het
Lcn3	G	A	2: 25,656,174 (GRCm39)		probably null	Het
Lin7b	T	C	7: 45,019,364 (GRCm39)	E68G	possibly damaging	Het
Lmbr1	T	A	5: 29,459,262 (GRCm39)	K379M	probably benign	Het
Lrig1	A	G	6: 94,583,099 (GRCm39)	S1006P	probably benign	Het
Lrrc37a	T	G	11: 103,389,045 (GRCm39)	T2127P	unknown	Het
Map4	A	G	9: 109,856,783 (GRCm39)	D151G	probably damaging	Het
Marchf1	A	T	8: 66,908,726 (GRCm39)	T149S	probably benign	Het
Msh4	A	T	3: 153,569,147 (GRCm39)	F809I	probably damaging	Het
Muc16	G	A	9: 18,496,095 (GRCm39)	P6699S	possibly damaging	Het
Mxi1	A	T	19: 53,360,088 (GRCm39)	D270V	probably damaging	Het
Myh6	A	T	14: 55,190,953 (GRCm39)	C907*	probably null	Het
Myo18b	T	C	5: 112,982,299 (GRCm39)	R1145G	possibly damaging	Het
Nkx2-6	A	C	14: 69,409,389 (GRCm39)	N47H	probably benign	Het
Nol7	G	A	13: 43,552,076 (GRCm39)	A66T	probably damaging	Het
Ntrk3	T	C	7: 77,900,461 (GRCm39)	N626S	probably damaging	Het
Nwd1	A	G	8: 73,393,266 (GRCm39)	Y77C	unknown	Het
Or12d17	G	T	17: 37,777,457 (GRCm39)	R120L	probably damaging	Het
Or12k5	A	C	2: 36,894,786 (GRCm39)	V280G	probably damaging	Het
Or8c14-ps1	A	G	9: 38,101,356 (GRCm39)	S112G	probably damaging	Het
Or8j3b	A	T	2: 86,205,475 (GRCm39)	Y94N	probably damaging	Het
Or9s23	G	A	1: 92,501,517 (GRCm39)	G208D	possibly damaging	Het
Otop3	A	G	11: 115,235,826 (GRCm39)	D486G	probably benign	Het
Pak1ip1	A	G	13: 41,162,731 (GRCm39)	K178R	probably benign	Het
Pcsk1	G	A	13: 75,259,002 (GRCm39)	G259S	probably benign	Het
Pde6a	A	G	18: 61,383,031 (GRCm39)	D338G	probably damaging	Het
Pias4	A	T	10: 80,999,806 (GRCm39)	D82E	probably benign	Het
Plekha5	C	A	6: 140,516,059 (GRCm39)	Q771K	probably benign	Het
Plekhh3	C	A	11: 101,056,405 (GRCm39)	A397S	possibly damaging	Het
Prg4	G	T	1: 150,331,656 (GRCm39)	T339N	unknown	Het
Prss22	A	T	17: 24,216,971 (GRCm39)	I3N	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rspo2	T	C	15: 42,941,510 (GRCm39)	T138A	probably benign	Het
Rtcb	C	T	10: 85,789,333 (GRCm39)	G70S	probably benign	Het
Selenov	A	T	7: 27,989,803 (GRCm39)	S234T	probably damaging	Het
Shtn1	T	C	19: 58,992,292 (GRCm39)	T429A	probably damaging	Het
Slc4a3	G	T	1: 75,530,021 (GRCm39)	R622L	probably benign	Het
Smc2	T	C	4: 52,478,448 (GRCm39)	I1015T	probably damaging	Het
Spata9	G	T	13: 76,115,959 (GRCm39)	V3F	possibly damaging	Het
Tlr4	T	C	4: 66,842,659 (GRCm39)	I105T	probably benign	Het
Trav6d-4	A	T	14: 52,991,096 (GRCm39)	Y47F	possibly damaging	Het
Ttn	A	T	2: 76,657,377 (GRCm39)	I12450N	unknown	Het
Umad1	G	T	6: 8,270,560 (GRCm39)	A21S	probably damaging	Het
Unc5a	G	A	13: 55,144,362 (GRCm39)	R229H	probably benign	Het
Vmn1r216	A	T	13: 23,284,030 (GRCm39)	M238L	probably damaging	Het
Vps16	T	A	2: 130,280,977 (GRCm39)	C255*	probably null	Het
Wdr89	A	G	12: 75,679,388 (GRCm39)	F289L	probably benign	Het
Zfp180	A	T	7: 23,805,525 (GRCm39)	H648L	probably damaging	Het
Zfp735	A	G	11: 73,581,154 (GRCm39)	K64E	possibly damaging	Het
Zfp990	G	A	4: 145,264,157 (GRCm39)	C385Y	probably damaging	Het
Zswim3	G	T	2: 164,662,135 (GRCm39)	S205I	probably damaging	Het

Other mutations in Atm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Atm	APN	9	53,435,743 (GRCm39)	missense	probably damaging	1.00
IGL00466:Atm	APN	9	53,410,412 (GRCm39)	splice site	probably benign
IGL00567:Atm	APN	9	53,414,416 (GRCm39)	nonsense	probably null
IGL00702:Atm	APN	9	53,423,131 (GRCm39)	missense	probably benign	0.02
IGL00743:Atm	APN	9	53,424,416 (GRCm39)	missense	probably benign	0.00
IGL00771:Atm	APN	9	53,404,354 (GRCm39)	missense	probably benign	0.01
IGL00773:Atm	APN	9	53,433,444 (GRCm39)	missense	probably benign	0.00
IGL00819:Atm	APN	9	53,429,831 (GRCm39)	missense	probably damaging	1.00
IGL00864:Atm	APN	9	53,445,233 (GRCm39)	missense	probably damaging	0.99
IGL00985:Atm	APN	9	53,371,116 (GRCm39)	missense	probably damaging	0.98
IGL01109:Atm	APN	9	53,401,593 (GRCm39)	missense	probably damaging	1.00
IGL01120:Atm	APN	9	53,372,422 (GRCm39)	critical splice acceptor site	probably null
IGL01369:Atm	APN	9	53,426,617 (GRCm39)	missense	probably benign
IGL01374:Atm	APN	9	53,443,024 (GRCm39)	missense	possibly damaging	0.58
IGL01406:Atm	APN	9	53,351,046 (GRCm39)	makesense	probably null
IGL01409:Atm	APN	9	53,410,471 (GRCm39)	missense	probably benign	0.01
IGL01434:Atm	APN	9	53,419,107 (GRCm39)	missense	probably benign	0.04
IGL01486:Atm	APN	9	53,421,513 (GRCm39)	missense	probably benign
IGL01583:Atm	APN	9	53,395,547 (GRCm39)	splice site	probably benign
IGL01861:Atm	APN	9	53,405,912 (GRCm39)	missense	probably null	0.89
IGL01865:Atm	APN	9	53,372,302 (GRCm39)	missense	probably damaging	1.00
IGL02026:Atm	APN	9	53,353,717 (GRCm39)	splice site	probably null
IGL02072:Atm	APN	9	53,371,096 (GRCm39)	missense	probably benign	0.01
IGL02075:Atm	APN	9	53,438,537 (GRCm39)	missense	probably damaging	1.00
IGL02127:Atm	APN	9	53,399,283 (GRCm39)	missense	probably damaging	1.00
IGL02175:Atm	APN	9	53,391,965 (GRCm39)	missense	probably damaging	0.99
IGL02246:Atm	APN	9	53,438,485 (GRCm39)	missense	probably benign	0.12
IGL02259:Atm	APN	9	53,429,794 (GRCm39)	splice site	probably benign
IGL02351:Atm	APN	9	53,433,476 (GRCm39)	missense	probably benign	0.04
IGL02358:Atm	APN	9	53,433,476 (GRCm39)	missense	probably benign	0.04
IGL02387:Atm	APN	9	53,391,066 (GRCm39)	splice site	probably null
IGL02417:Atm	APN	9	53,390,995 (GRCm39)	missense	probably benign	0.00
IGL02422:Atm	APN	9	53,412,092 (GRCm39)	missense	probably damaging	1.00
IGL02445:Atm	APN	9	53,365,630 (GRCm39)	missense	probably benign	0.00
IGL02492:Atm	APN	9	53,367,159 (GRCm39)	missense	probably damaging	0.99
IGL02513:Atm	APN	9	53,408,562 (GRCm39)	splice site	probably benign
IGL02633:Atm	APN	9	53,359,453 (GRCm39)	missense	probably damaging	1.00
IGL02634:Atm	APN	9	53,427,863 (GRCm39)	missense	probably benign	0.00
IGL02948:Atm	APN	9	53,364,740 (GRCm39)	splice site	probably benign
IGL02959:Atm	APN	9	53,382,718 (GRCm39)	missense	probably damaging	1.00
IGL02965:Atm	APN	9	53,364,863 (GRCm39)	missense	probably damaging	1.00
IGL03085:Atm	APN	9	53,395,471 (GRCm39)	missense	possibly damaging	0.89
antebellum	UTSW	9	53,429,859 (GRCm39)	nonsense	probably null
bull_run	UTSW	9	53,399,222 (GRCm39)	missense	probably benign	0.09
Civil	UTSW	9	53,403,568 (GRCm39)	missense	possibly damaging	0.78
gettysburg	UTSW	9	53,367,288 (GRCm39)	splice site	probably null
Grant	UTSW	9	53,423,217 (GRCm39)	nonsense	probably null
Indicative	UTSW	9	53,356,676 (GRCm39)	splice site	probably null
Marker	UTSW	9	53,365,579 (GRCm39)	splice site	probably benign
maunder	UTSW	9	53,410,497 (GRCm39)	nonsense	probably null
mockingbird	UTSW	9	53,427,767 (GRCm39)	nonsense	probably null
mockingbird2	UTSW	9	53,399,887 (GRCm39)	missense	probably damaging	1.00
osphere	UTSW	9	53,390,973 (GRCm39)	missense	probably damaging	0.99
shiloh	UTSW	9	53,376,598 (GRCm39)	missense	probably damaging	1.00
Strato	UTSW	9	53,414,318 (GRCm39)	missense	probably damaging	1.00
thrasher	UTSW	9	53,356,807 (GRCm39)	missense	probably benign	0.01
Tropo	UTSW	9	53,442,948 (GRCm39)	missense	probably damaging	1.00
P0019:Atm	UTSW	9	53,376,328 (GRCm39)	splice site	probably benign
PIT4403001:Atm	UTSW	9	53,412,282 (GRCm39)	missense	probably benign
PIT4687001:Atm	UTSW	9	53,398,112 (GRCm39)	critical splice donor site	probably null
R0004:Atm	UTSW	9	53,364,828 (GRCm39)	splice site	probably benign
R0035:Atm	UTSW	9	53,424,480 (GRCm39)	missense	probably benign	0.01
R0098:Atm	UTSW	9	53,429,869 (GRCm39)	missense	probably benign	0.10
R0098:Atm	UTSW	9	53,429,869 (GRCm39)	missense	probably benign	0.10
R0201:Atm	UTSW	9	53,365,579 (GRCm39)	splice site	probably benign
R0304:Atm	UTSW	9	53,427,644 (GRCm39)	missense	probably benign	0.34
R0308:Atm	UTSW	9	53,365,773 (GRCm39)	splice site	probably null
R0362:Atm	UTSW	9	53,370,138 (GRCm39)	missense	possibly damaging	0.90
R0470:Atm	UTSW	9	53,372,266 (GRCm39)	missense	probably damaging	1.00
R0513:Atm	UTSW	9	53,415,248 (GRCm39)	missense	probably benign	0.00
R0589:Atm	UTSW	9	53,401,492 (GRCm39)	missense	possibly damaging	0.51
R0617:Atm	UTSW	9	53,370,241 (GRCm39)	nonsense	probably null
R0630:Atm	UTSW	9	53,442,922 (GRCm39)	splice site	probably benign
R0652:Atm	UTSW	9	53,397,314 (GRCm39)	missense	probably damaging	0.98
R0698:Atm	UTSW	9	53,426,539 (GRCm39)	missense	probably damaging	1.00
R0737:Atm	UTSW	9	53,367,866 (GRCm39)	missense	probably damaging	1.00
R0885:Atm	UTSW	9	53,371,123 (GRCm39)	missense	probably benign
R0947:Atm	UTSW	9	53,415,392 (GRCm39)	missense	probably benign	0.01
R0948:Atm	UTSW	9	53,407,258 (GRCm39)	missense	probably benign
R1144:Atm	UTSW	9	53,422,998 (GRCm39)	splice site	probably benign
R1252:Atm	UTSW	9	53,367,140 (GRCm39)	missense	probably damaging	1.00
R1295:Atm	UTSW	9	53,367,830 (GRCm39)	missense	probably damaging	1.00
R1296:Atm	UTSW	9	53,367,830 (GRCm39)	missense	probably damaging	1.00
R1419:Atm	UTSW	9	53,368,789 (GRCm39)	missense	probably benign	0.00
R1477:Atm	UTSW	9	53,375,573 (GRCm39)	missense	probably benign	0.00
R1596:Atm	UTSW	9	53,364,678 (GRCm39)	missense	probably damaging	1.00
R1630:Atm	UTSW	9	53,390,973 (GRCm39)	missense	probably damaging	0.99
R1667:Atm	UTSW	9	53,412,232 (GRCm39)	missense	probably damaging	1.00
R1681:Atm	UTSW	9	53,433,455 (GRCm39)	missense	possibly damaging	0.94
R1703:Atm	UTSW	9	53,412,000 (GRCm39)	missense	probably benign
R1817:Atm	UTSW	9	53,403,533 (GRCm39)	splice site	probably benign
R1840:Atm	UTSW	9	53,367,830 (GRCm39)	missense	probably damaging	1.00
R1848:Atm	UTSW	9	53,379,312 (GRCm39)	missense	probably benign	0.06
R1906:Atm	UTSW	9	53,417,868 (GRCm39)	missense	probably damaging	1.00
R1958:Atm	UTSW	9	53,382,718 (GRCm39)	missense	probably damaging	1.00
R2108:Atm	UTSW	9	53,355,297 (GRCm39)	missense	probably damaging	1.00
R2116:Atm	UTSW	9	53,412,269 (GRCm39)	missense	probably benign	0.36
R2134:Atm	UTSW	9	53,379,264 (GRCm39)	critical splice donor site	probably null
R2137:Atm	UTSW	9	53,364,675 (GRCm39)	missense	probably damaging	1.00
R2291:Atm	UTSW	9	53,402,209 (GRCm39)	splice site	probably null
R2348:Atm	UTSW	9	53,403,568 (GRCm39)	missense	possibly damaging	0.78
R2483:Atm	UTSW	9	53,421,566 (GRCm39)	missense	probably damaging	1.00
R2567:Atm	UTSW	9	53,368,770 (GRCm39)	missense	possibly damaging	0.72
R2897:Atm	UTSW	9	53,419,105 (GRCm39)	missense	probably damaging	0.99
R2939:Atm	UTSW	9	53,406,011 (GRCm39)	missense	probably damaging	1.00
R3008:Atm	UTSW	9	53,392,050 (GRCm39)	missense	probably benign	0.00
R3236:Atm	UTSW	9	53,391,048 (GRCm39)	missense	probably benign	0.15
R3847:Atm	UTSW	9	53,414,375 (GRCm39)	missense	possibly damaging	0.94
R3889:Atm	UTSW	9	53,417,936 (GRCm39)	splice site	probably benign
R3919:Atm	UTSW	9	53,403,578 (GRCm39)	missense	probably benign	0.00
R4125:Atm	UTSW	9	53,361,921 (GRCm39)	missense	probably damaging	1.00
R4222:Atm	UTSW	9	53,391,969 (GRCm39)	missense	probably benign
R4395:Atm	UTSW	9	53,376,527 (GRCm39)	missense	probably benign	0.09
R4466:Atm	UTSW	9	53,359,469 (GRCm39)	nonsense	probably null
R4502:Atm	UTSW	9	53,407,246 (GRCm39)	missense	possibly damaging	0.92
R4514:Atm	UTSW	9	53,404,339 (GRCm39)	missense	probably damaging	0.99
R4528:Atm	UTSW	9	53,412,059 (GRCm39)	missense	probably benign	0.39
R4593:Atm	UTSW	9	53,364,894 (GRCm39)	missense	possibly damaging	0.55
R4627:Atm	UTSW	9	53,367,806 (GRCm39)	missense	possibly damaging	0.79
R4634:Atm	UTSW	9	53,443,033 (GRCm39)	missense	probably benign	0.01
R4665:Atm	UTSW	9	53,375,529 (GRCm39)	missense	probably benign	0.00
R4672:Atm	UTSW	9	53,433,501 (GRCm39)	missense	probably damaging	0.99
R4741:Atm	UTSW	9	53,364,907 (GRCm39)	missense	probably benign	0.10
R4808:Atm	UTSW	9	53,356,795 (GRCm39)	missense	probably damaging	0.99
R4959:Atm	UTSW	9	53,426,601 (GRCm39)	missense	probably benign
R4996:Atm	UTSW	9	53,435,807 (GRCm39)	missense	probably benign	0.09
R5030:Atm	UTSW	9	53,431,409 (GRCm39)	nonsense	probably null
R5214:Atm	UTSW	9	53,402,327 (GRCm39)	missense	probably benign	0.09
R5260:Atm	UTSW	9	53,417,911 (GRCm39)	missense	probably damaging	0.99
R5311:Atm	UTSW	9	53,429,923 (GRCm39)	missense	probably benign	0.00
R5394:Atm	UTSW	9	53,419,077 (GRCm39)	critical splice donor site	probably null
R5400:Atm	UTSW	9	53,414,318 (GRCm39)	missense	probably damaging	1.00
R5436:Atm	UTSW	9	53,371,104 (GRCm39)	missense	probably benign	0.00
R5441:Atm	UTSW	9	53,427,767 (GRCm39)	nonsense	probably null
R5569:Atm	UTSW	9	53,427,750 (GRCm39)	nonsense	probably null
R5856:Atm	UTSW	9	53,407,255 (GRCm39)	missense	possibly damaging	0.64
R5891:Atm	UTSW	9	53,408,459 (GRCm39)	missense	probably benign
R5910:Atm	UTSW	9	53,359,380 (GRCm39)	missense	probably damaging	0.96
R6054:Atm	UTSW	9	53,371,173 (GRCm39)	missense	probably damaging	1.00
R6062:Atm	UTSW	9	53,399,887 (GRCm39)	missense	probably damaging	1.00
R6092:Atm	UTSW	9	53,435,714 (GRCm39)	missense	probably damaging	1.00
R6127:Atm	UTSW	9	53,435,809 (GRCm39)	missense	probably damaging	1.00
R6160:Atm	UTSW	9	53,402,259 (GRCm39)	missense	probably benign	0.04
R6267:Atm	UTSW	9	53,355,300 (GRCm39)	missense	probably damaging	1.00
R6273:Atm	UTSW	9	53,399,222 (GRCm39)	missense	probably benign	0.09
R6284:Atm	UTSW	9	53,356,676 (GRCm39)	splice site	probably null
R6478:Atm	UTSW	9	53,401,554 (GRCm39)	missense	probably damaging	1.00
R6547:Atm	UTSW	9	53,351,457 (GRCm39)	missense	probably damaging	1.00
R6549:Atm	UTSW	9	53,404,477 (GRCm39)	missense	probably benign	0.00
R6704:Atm	UTSW	9	53,370,153 (GRCm39)	missense	probably benign	0.02
R6715:Atm	UTSW	9	53,442,948 (GRCm39)	missense	probably damaging	1.00
R6737:Atm	UTSW	9	53,397,351 (GRCm39)	missense	probably benign	0.30
R6759:Atm	UTSW	9	53,429,859 (GRCm39)	nonsense	probably null
R6766:Atm	UTSW	9	53,401,582 (GRCm39)	missense	probably damaging	0.99
R6813:Atm	UTSW	9	53,408,535 (GRCm39)	missense	probably benign	0.00
R6852:Atm	UTSW	9	53,393,730 (GRCm39)	missense	possibly damaging	0.93
R7064:Atm	UTSW	9	53,419,181 (GRCm39)	missense	probably benign	0.02
R7208:Atm	UTSW	9	53,423,308 (GRCm39)	splice site	probably null
R7211:Atm	UTSW	9	53,399,860 (GRCm39)	missense	probably benign	0.01
R7220:Atm	UTSW	9	53,423,217 (GRCm39)	nonsense	probably null
R7336:Atm	UTSW	9	53,373,803 (GRCm39)	missense	possibly damaging	0.47
R7363:Atm	UTSW	9	53,376,598 (GRCm39)	missense	probably damaging	1.00
R7378:Atm	UTSW	9	53,364,737 (GRCm39)	critical splice acceptor site	probably null
R7472:Atm	UTSW	9	53,359,425 (GRCm39)	missense	possibly damaging	0.81
R7497:Atm	UTSW	9	53,423,191 (GRCm39)	missense	probably benign	0.00
R7584:Atm	UTSW	9	53,424,427 (GRCm39)	missense	probably damaging	0.99
R7624:Atm	UTSW	9	53,366,068 (GRCm39)	missense	probably damaging	0.99
R7653:Atm	UTSW	9	53,401,602 (GRCm39)	nonsense	probably null
R7660:Atm	UTSW	9	53,356,807 (GRCm39)	missense	probably benign	0.01
R7679:Atm	UTSW	9	53,353,797 (GRCm39)	missense	probably damaging	1.00
R7720:Atm	UTSW	9	53,433,539 (GRCm39)	missense	possibly damaging	0.54
R8221:Atm	UTSW	9	53,367,288 (GRCm39)	splice site	probably null
R8247:Atm	UTSW	9	53,361,870 (GRCm39)	missense
R8334:Atm	UTSW	9	53,433,573 (GRCm39)	missense	probably benign	0.00
R8503:Atm	UTSW	9	53,399,352 (GRCm39)	missense	probably damaging	0.99
R8552:Atm	UTSW	9	53,435,797 (GRCm39)	missense	probably damaging	1.00
R8749:Atm	UTSW	9	53,410,497 (GRCm39)	nonsense	probably null
R8838:Atm	UTSW	9	53,427,851 (GRCm39)	missense	probably damaging	0.99
R9126:Atm	UTSW	9	53,370,134 (GRCm39)	missense	probably benign	0.01
R9131:Atm	UTSW	9	53,445,044 (GRCm39)	missense	probably benign	0.10
R9191:Atm	UTSW	9	53,438,590 (GRCm39)	missense	probably benign	0.29
R9257:Atm	UTSW	9	53,407,150 (GRCm39)	critical splice donor site	probably null
R9473:Atm	UTSW	9	53,410,272 (GRCm39)	missense	probably benign
R9558:Atm	UTSW	9	53,412,081 (GRCm39)	missense	probably benign	0.00
R9598:Atm	UTSW	9	53,431,381 (GRCm39)	missense	probably benign	0.34
R9717:Atm	UTSW	9	53,427,817 (GRCm39)	missense	probably damaging	1.00
R9794:Atm	UTSW	9	53,429,867 (GRCm39)	missense	probably benign
X0067:Atm	UTSW	9	53,390,994 (GRCm39)	missense	probably benign	0.00
Z1088:Atm	UTSW	9	53,442,987 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCAAGATGCACACAAAATTG -3'
(R):5'- GATAGGACACCAAAACTTAGTGAC -3'

Sequencing Primer
(F):5'- AGATGCACACAAAATTGAAATATCAC -3'
(R):5'- ACTTTGTTAGTCCTAGCTAAAACAGC -3'

Posted On

2019-10-07