Mutagenetix > Incidental Mutation

Incidental Mutation 'R1840:Atm'

205710

Institutional Source

Beutler Lab

Gene Symbol

Atm

Ensembl Gene

ENSMUSG00000034218

Gene Name

ataxia telangiectasia mutated

Synonyms

C030026E19Rik

MMRRC Submission

039866-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R1840 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53350449-53448040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53367830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 2431 (V2431E)

Ref Sequence

ENSEMBL: ENSMUSP00000113388 (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: V2431E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113388
Gene: ENSMUSG00000034218
AA Change: V2431E

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: ENSMUST00000132249

SMART Domains

Protein: ENSMUSP00000118199
Gene: ENSMUSG00000034218

Domain	Start	End	E-Value	Type
PI3Kc	68	201	5.38e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232179
AA Change: V2434E

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.9243

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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 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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	A	16: 21,472,236 (GRCm39)	M85L	probably benign	Het
Aatk	T	G	11: 119,904,558 (GRCm39)	D206A	probably damaging	Het
Agap3	A	G	5: 24,705,229 (GRCm39)	D719G	probably damaging	Het
Agrn	G	A	4: 156,251,872 (GRCm39)	R1797C	probably damaging	Het
Ascc3	T	A	10: 50,566,257 (GRCm39)	M734K	probably benign	Het
Asph	T	A	4: 9,601,340 (GRCm39)	M136L	possibly damaging	Het
Atp2b1	A	G	10: 98,858,791 (GRCm39)	H1158R	probably benign	Het
Atxn7l1	A	G	12: 33,421,032 (GRCm39)		probably null	Het
BC024139	G	T	15: 76,004,842 (GRCm39)	S611R	probably benign	Het
Becn1	C	T	11: 101,186,392 (GRCm39)	G105S	probably damaging	Het
Bud13	A	G	9: 46,197,706 (GRCm39)	E70G	probably damaging	Het
Cacul1	A	T	19: 60,522,688 (GRCm39)	L282*	probably null	Het
Catspere2	A	G	1: 177,830,581 (GRCm39)	D30G	possibly damaging	Het
Ccar1	T	A	10: 62,599,289 (GRCm39)	K614M	probably damaging	Het
Cd96	T	C	16: 45,919,455 (GRCm39)	T189A	probably benign	Het
Cdh5	C	A	8: 104,853,248 (GRCm39)	Y189*	probably null	Het
Chka	A	G	19: 3,936,460 (GRCm39)	N284S	probably benign	Het
Cntn6	A	T	6: 104,751,441 (GRCm39)	I366F	probably damaging	Het
Csmd3	C	T	15: 47,470,560 (GRCm39)	G3372E	probably damaging	Het
Cyp4f16	T	C	17: 32,761,980 (GRCm39)		probably null	Het
Dcaf6	A	G	1: 165,227,317 (GRCm39)	V270A	probably damaging	Het
Ddx60	T	A	8: 62,422,587 (GRCm39)	I608N	probably damaging	Het
Dnah9	A	T	11: 65,725,024 (GRCm39)	C1849*	probably null	Het
Eci3	C	A	13: 35,144,024 (GRCm39)	V34L	probably benign	Het
Eif1ad9	T	C	12: 88,296,181 (GRCm39)	V53A	probably benign	Het
Entrep2	C	A	7: 64,408,943 (GRCm39)	V484L	probably benign	Het
Epha1	C	T	6: 42,340,522 (GRCm39)	R583H	probably damaging	Het
Erbin	A	T	13: 103,971,455 (GRCm39)	N720K	probably benign	Het
Eya1	T	A	1: 14,299,728 (GRCm39)	R346*	probably null	Het
Fhdc1	G	A	3: 84,353,128 (GRCm39)	T699I	possibly damaging	Het
Flvcr2	T	C	12: 85,849,995 (GRCm39)	V427A	possibly damaging	Het
Frey1	T	C	2: 92,213,554 (GRCm39)	S36P	probably benign	Het
Fzd9	T	A	5: 135,278,425 (GRCm39)	T487S	probably benign	Het
Gas2l3	T	C	10: 89,258,113 (GRCm39)	Y160C	possibly damaging	Het
Gm10269	T	C	18: 20,815,866 (GRCm39)	K52R	probably damaging	Het
Gm8674	A	T	13: 50,055,801 (GRCm39)		noncoding transcript	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Gramd4	T	C	15: 86,014,393 (GRCm39)		probably null	Het
Gtpbp4	A	G	13: 9,029,500 (GRCm39)	L403P	probably benign	Het
H6pd	A	T	4: 150,066,507 (GRCm39)	D626E	possibly damaging	Het
Herc6	T	A	6: 57,635,091 (GRCm39)	L769*	probably null	Het
Hes5	A	G	4: 155,045,711 (GRCm39)	K58R	probably damaging	Het
Heyl	A	G	4: 123,135,183 (GRCm39)	I59V	probably damaging	Het
Hpca	A	G	4: 129,012,393 (GRCm39)	F48L	probably damaging	Het
Ice1	C	T	13: 70,754,337 (GRCm39)	R583Q	probably benign	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Kansl1l	T	A	1: 66,817,191 (GRCm39)	I390F	probably damaging	Het
Kat5	C	T	19: 5,659,266 (GRCm39)	V95M	possibly damaging	Het
Kcnh4	T	A	11: 100,636,167 (GRCm39)	I827F	possibly damaging	Het
Kif1b	C	T	4: 149,272,589 (GRCm39)	R138Q	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lats1	T	A	10: 7,586,703 (GRCm39)	L955*	probably null	Het
Ldlrad2	A	C	4: 137,299,495 (GRCm39)	C110G	possibly damaging	Het
Lgi3	G	A	14: 70,772,216 (GRCm39)		probably null	Het
Lingo1	A	G	9: 56,527,842 (GRCm39)	M249T	probably benign	Het
Lrig3	A	T	10: 125,849,258 (GRCm39)	R993*	probably null	Het
Lsm14b	T	A	2: 179,668,521 (GRCm39)	I74N	probably damaging	Het
Lyplal1	T	A	1: 185,832,414 (GRCm39)	I114F	probably damaging	Het
Mmp15	A	G	8: 96,092,048 (GRCm39)	Y86C	probably damaging	Het
Myh2	A	G	11: 67,077,313 (GRCm39)	E816G	probably benign	Het
Myo5c	A	G	9: 75,157,017 (GRCm39)	N151S	probably damaging	Het
Nckap1	T	A	2: 80,332,594 (GRCm39)	E1082V	possibly damaging	Het
Nrg4	A	C	9: 55,189,890 (GRCm39)		probably benign	Het
Nrp2	T	C	1: 62,777,498 (GRCm39)	L101P	probably damaging	Het
Or14j5	A	T	17: 38,161,639 (GRCm39)	D52V	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or4p19	T	C	2: 88,242,411 (GRCm39)	D197G	probably benign	Het
Or51q1c	A	G	7: 103,653,324 (GRCm39)	I281V	probably benign	Het
Or5ak22	G	A	2: 85,230,512 (GRCm39)	R122C	probably benign	Het
Parp14	T	A	16: 35,683,819 (GRCm39)	E169V	probably damaging	Het
Pcolce2	A	T	9: 95,552,256 (GRCm39)	N130Y	probably benign	Het
Pcolce2	G	A	9: 95,552,170 (GRCm39)	R101H	probably damaging	Het
Plscr1	A	T	9: 92,140,127 (GRCm39)	S5C	unknown	Het
Plxdc2	T	C	2: 16,674,667 (GRCm39)	V338A	probably benign	Het
Psg23	T	A	7: 18,344,363 (GRCm39)	N364I	possibly damaging	Het
Psmg4	A	G	13: 34,362,039 (GRCm39)	E109G	probably damaging	Het
Ptk2	T	C	15: 73,082,733 (GRCm39)	E908G	probably damaging	Het
Ptpn14	G	A	1: 189,519,048 (GRCm39)	R26H	probably damaging	Het
Ranbp2	T	A	10: 58,314,588 (GRCm39)	N1769K	probably benign	Het
Rbm14	C	T	19: 4,851,823 (GRCm39)		probably benign	Het
Rgs7	A	T	1: 174,980,714 (GRCm39)	D103E	probably damaging	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Rock2	T	A	12: 16,978,990 (GRCm39)	D93E	probably benign	Het
Rps6ka6	A	G	X: 110,330,629 (GRCm39)	I246T	possibly damaging	Het
Rubcn	T	C	16: 32,646,542 (GRCm39)	M803V	possibly damaging	Het
Ryr3	T	C	2: 112,581,165 (GRCm39)	Y2889C	probably damaging	Het
Sall2	T	C	14: 52,551,182 (GRCm39)	N671S	probably damaging	Het
Selplg	T	C	5: 113,957,905 (GRCm39)	T134A	possibly damaging	Het
Sez6	C	A	11: 77,844,543 (GRCm39)	T122N	possibly damaging	Het
Slc9b1	T	A	3: 135,063,229 (GRCm39)	D4E	unknown	Het
Smim18	A	G	8: 34,232,376 (GRCm39)	M81T	probably benign	Het
Snap91	A	T	9: 86,697,518 (GRCm39)	H281Q	probably damaging	Het
Sparc	C	A	11: 55,286,692 (GRCm39)	C302F	probably damaging	Het
Spg11	A	G	2: 121,932,237 (GRCm39)	L535P	probably damaging	Het
Spsb1	G	A	4: 149,991,088 (GRCm39)	T160I	probably damaging	Het
Stra6	A	G	9: 58,047,813 (GRCm39)	N128S	probably benign	Het
Strc	T	C	2: 121,209,777 (GRCm39)	E182G	probably damaging	Het
Sult2a6	A	G	7: 13,988,754 (GRCm39)	M2T	probably benign	Het
Sv2c	T	C	13: 96,118,352 (GRCm39)	N499S	probably benign	Het
Szt2	A	T	4: 118,222,854 (GRCm39)		probably benign	Het
Tbx20	A	T	9: 24,636,972 (GRCm39)	S372T	probably benign	Het
Tcp11l2	T	A	10: 84,440,463 (GRCm39)	S289T	probably damaging	Het
Tdrd1	A	G	19: 56,830,744 (GRCm39)	E259G	probably damaging	Het
Thsd7a	T	A	6: 12,330,973 (GRCm39)	I1390L	probably benign	Het
Tln2	G	A	9: 67,249,325 (GRCm39)	R921W	probably damaging	Het
Tmem126a	C	A	7: 90,102,092 (GRCm39)	G36*	probably null	Het
Tmem245	C	T	4: 56,903,947 (GRCm39)	V606I	probably benign	Het
Trpm6	A	G	19: 18,843,631 (GRCm39)	D1665G	probably benign	Het
Ubac2	T	G	14: 122,231,674 (GRCm39)	V200G	probably benign	Het
Ubr5	G	A	15: 37,981,161 (GRCm39)	A2372V	possibly damaging	Het
Ugcg	C	T	4: 59,219,517 (GRCm39)	P285S	probably damaging	Het
Vmn1r9	T	C	6: 57,048,522 (GRCm39)	V199A	probably damaging	Het
Vmn2r118	T	A	17: 55,917,406 (GRCm39)	K369*	probably null	Het
Xpnpep3	G	T	15: 81,311,554 (GRCm39)	A87S	probably benign	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zdhhc11	A	G	13: 74,122,771 (GRCm39)	N169S	probably damaging	Het
Zfp62	T	A	11: 49,107,215 (GRCm39)	D435E	probably damaging	Het
Zfyve16	T	C	13: 92,648,033 (GRCm39)	D1007G	possibly 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
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
R7487:Atm	UTSW	9	53,435,654 (GRCm39)	missense	probably benign
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'- CATCCACGTACTCTGCCAAG -3'
(R):5'- TGCTGGAAGTTACGATGGC -3'

Sequencing Primer
(F):5'- CTGACTGAAGTTGTGATTAGCCAC -3'
(R):5'- TGGCAACAGCAGAGAGC -3'

Posted On

2014-06-23