Mutagenetix > Incidental Mutation

Incidental Mutation 'R1295:Atm'

158070

Institutional Source

Beutler Lab

Gene Symbol

Atm

Ensembl Gene

ENSMUSG00000034218

Gene Name

ataxia telangiectasia mutated

Synonyms

C030026E19Rik

MMRRC Submission

039361-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R1295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53439149-53536740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53456530 bp (GRCm38)

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: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,908,717 (GRCm38)	S53G	possibly damaging	Het
Adgrb1	T	A	15: 74,550,039 (GRCm38)	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,248,624 (GRCm38)	T102M	probably damaging	Het
Akap6	A	C	12: 52,887,029 (GRCm38)	K435Q	probably damaging	Het
Aldh7a1	T	C	18: 56,546,950 (GRCm38)		probably null	Het
Amfr	T	C	8: 93,974,804 (GRCm38)	R507G	probably benign	Het
Ap1m1	T	A	8: 72,251,875 (GRCm38)		probably null	Het
Arhgap29	A	G	3: 121,992,395 (GRCm38)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,881,269 (GRCm38)	E428*	probably null	Het
Atn1	G	T	6: 124,747,787 (GRCm38)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,993,802 (GRCm38)	S99P	probably damaging	Het
Ccar1	C	A	10: 62,783,882 (GRCm38)		probably null	Het
Cdk18	T	C	1: 132,119,960 (GRCm38)		probably benign	Het
Cep85	A	G	4: 134,167,400 (GRCm38)	W32R	probably damaging	Het
Col5a3	A	G	9: 20,808,418 (GRCm38)	F215S	unknown	Het
Decr1	T	C	4: 15,919,207 (GRCm38)	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,007,399 (GRCm38)	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752 (GRCm38)		probably benign	Het
Ehd3	C	A	17: 73,828,186 (GRCm38)	D352E	probably damaging	Het
Enpp6	T	G	8: 47,065,500 (GRCm38)	I221S	probably benign	Het
Fam186a	T	C	15: 99,939,789 (GRCm38)		probably benign	Het
Gm5435	G	T	12: 82,495,784 (GRCm38)		noncoding transcript	Het
Gm6990	T	A	19: 56,755,334 (GRCm38)		noncoding transcript	Het
Gpr22	A	C	12: 31,709,514 (GRCm38)	I203S	probably benign	Het
Gpr61	A	G	3: 108,150,481 (GRCm38)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,704,564 (GRCm38)		probably benign	Het
Gstcd	T	C	3: 133,005,628 (GRCm38)	N431D	probably damaging	Het
H1f5	T	C	13: 21,779,999 (GRCm38)	S186G	probably benign	Het
Haao	T	A	17: 83,838,838 (GRCm38)	Q69L	probably benign	Het
Ift140	G	T	17: 25,088,933 (GRCm38)		probably null	Het
Ikbke	A	G	1: 131,270,226 (GRCm38)	V381A	probably benign	Het
Ing1	A	C	8: 11,561,501 (GRCm38)	I38L	probably benign	Het
Ing1	T	A	8: 11,561,502 (GRCm38)	I38N	probably damaging	Het
Itga4	A	G	2: 79,322,689 (GRCm38)	M907V	possibly damaging	Het
Kcnk12	C	T	17: 87,746,373 (GRCm38)	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,502,404 (GRCm38)	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,910,359 (GRCm38)	Y122C	probably damaging	Het
Mslnl	T	C	17: 25,743,240 (GRCm38)	L204P	probably damaging	Het
Muc6	T	C	7: 141,651,879 (GRCm38)	E112G	probably benign	Het
Nav3	T	A	10: 109,692,102 (GRCm38)	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,566,693 (GRCm38)	T9A	probably damaging	Het
Numb	C	A	12: 83,796,161 (GRCm38)		probably benign	Het
Prodh2	T	C	7: 30,494,089 (GRCm38)	V79A	probably damaging	Het
Psmb2	A	G	4: 126,687,032 (GRCm38)	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,398,455 (GRCm38)	L80F	probably benign	Het
Rnf19a	G	T	15: 36,244,101 (GRCm38)	Y604*	probably null	Het
Ros1	T	A	10: 52,087,932 (GRCm38)	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 119,036,927 (GRCm38)	F219L	probably benign	Het
Sall2	T	C	14: 52,313,725 (GRCm38)	N671S	probably damaging	Het
Sele	T	A	1: 164,050,810 (GRCm38)	S239R	probably damaging	Het
Serpina3b	T	C	12: 104,130,879 (GRCm38)	F140L	probably damaging	Het
Stxbp1	A	T	2: 32,794,636 (GRCm38)	S594T	probably benign	Het
Sufu	G	A	19: 46,454,720 (GRCm38)		probably benign	Het
Tbx2	A	G	11: 85,834,766 (GRCm38)	E181G	probably damaging	Het
Thumpd2	A	G	17: 81,055,888 (GRCm38)	V50A	probably damaging	Het
Tlcd4	A	G	3: 121,207,291 (GRCm38)	V231A	probably benign	Het
Ttn	C	A	2: 76,743,245 (GRCm38)	R17441L	probably damaging	Het
Usp34	A	G	11: 23,384,477 (GRCm38)	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,071,537 (GRCm38)	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,538,273 (GRCm38)	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,389,139 (GRCm38)	A501T	probably benign	Het
Wapl	C	T	14: 34,724,769 (GRCm38)	P605S	probably damaging	Het
Zfp598	A	G	17: 24,679,649 (GRCm38)	N474S	probably benign	Het
Zfyve26	A	G	12: 79,274,920 (GRCm38)	L975P	probably damaging	Het
Zp3r	C	T	1: 130,591,444 (GRCm38)	G255D	probably damaging	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
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
R5400:Atm	UTSW	9	53,503,018 (GRCm38)	missense	probably damaging	1.00
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'- TGCAATTAATAGGTCTTCCACACACCC -3'
(R):5'- GCTGTTACCTGATAAGGTTCCATGCC -3'

Sequencing Primer
(F):5'- CAGGGTGGACTCTAAGTTAATCCTC -3'
(R):5'- ACATAGATTTGAGTGGGCTACC -3'

Posted On

2014-02-18