Mutagenetix > Incidental Mutation

Incidental Mutation 'R5441:Atmin'

427183

Institutional Source

Beutler Lab

Gene Symbol

Atmin

Ensembl Gene

ENSMUSG00000047388

Gene Name

ATM interactor

Synonyms

gpg6, Asciz

MMRRC Submission

043006-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117670132-117687184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117684696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 785 (D785E)

Ref Sequence

ENSEMBL: ENSMUSP00000104727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109099]

AlphaFold

Q6P9S1

Predicted Effect

probably damaging
Transcript: ENSMUST00000109099
AA Change: D785E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104727
Gene: ENSMUSG00000047388
AA Change: D785E

Domain	Start	End	E-Value	Type
low complexity region	2	34	N/A	INTRINSIC
low complexity region	46	62	N/A	INTRINSIC
ZnF_C2H2	80	105	2.49e-1	SMART
ZnF_C2H2	127	156	7.11e0	SMART
ZnF_C2H2	161	181	4.5e1	SMART
ZnF_C2H2	187	210	1.06e2	SMART
low complexity region	289	304	N/A	INTRINSIC
low complexity region	644	657	N/A	INTRINSIC
low complexity region	722	738	N/A	INTRINSIC

Meta Mutation Damage Score

0.1010

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (56/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit fetal lethality, craniofacial defects, midbrain exencephaly, and premature senescence of mouse embryonic fibroblasts. Homozygotes for an ENU-induced mutation exhibit left-right patterning defects. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,334,215 (GRCm39)	Y1096H	probably damaging	Het
Aspa	A	T	11: 73,196,420 (GRCm39)	F261I	probably damaging	Het
Atm	C	A	9: 53,427,767 (GRCm39)	G448*	probably null	Het
Car1	G	C	3: 14,841,364 (GRCm39)	R90G	probably damaging	Het
Cdh11	T	C	8: 103,374,178 (GRCm39)	D520G	probably benign	Het
Cers5	T	A	15: 99,649,119 (GRCm39)	K50*	probably null	Het
Chad	A	T	11: 94,459,118 (GRCm39)	D340V	probably benign	Het
Cspg5	T	C	9: 110,075,711 (GRCm39)	I68T	probably benign	Het
Fcgbpl1	C	T	7: 27,856,339 (GRCm39)	T2042M	probably damaging	Het
Fcrla	T	A	1: 170,752,991 (GRCm39)		probably benign	Het
Fer1l4	T	A	2: 155,865,177 (GRCm39)	D1608V	probably benign	Het
Fzd5	T	A	1: 64,774,576 (GRCm39)	Q395L	probably benign	Het
Gm7664	T	A	13: 62,676,464 (GRCm39)		probably benign	Het
Hk3	T	C	13: 55,162,869 (GRCm39)	E2G	probably damaging	Het
Hmcn2	G	A	2: 31,296,428 (GRCm39)	E2677K	possibly damaging	Het
Hydin	T	C	8: 111,291,741 (GRCm39)	L3411P	possibly damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Lysmd2	C	T	9: 75,533,254 (GRCm39)	H70Y	possibly damaging	Het
Msi2	A	G	11: 88,370,818 (GRCm39)		probably benign	Het
Msi2	G	A	11: 88,608,921 (GRCm39)		probably benign	Het
Napsa	T	A	7: 44,230,817 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,153,578 (GRCm39)	L710M	probably damaging	Het
Or10g1	T	A	14: 52,647,414 (GRCm39)	K305M	probably benign	Het
Or12d13	T	C	17: 37,647,159 (GRCm39)		probably null	Het
Or5m13	T	A	2: 85,748,934 (GRCm39)	F222I	probably benign	Het
Or6ae1	T	C	7: 139,742,564 (GRCm39)	T100A	probably benign	Het
Or9a2	C	T	6: 41,748,782 (GRCm39)	M150I	probably benign	Het
Plbd2	T	A	5: 120,637,147 (GRCm39)	Y105F	probably benign	Het
Plppr5	A	T	3: 117,456,120 (GRCm39)	I214F	possibly damaging	Het
Pramel34	A	T	5: 93,784,456 (GRCm39)	M139K	possibly damaging	Het
Ptcd3	A	G	6: 71,858,505 (GRCm39)	V655A	possibly damaging	Het
Ptpn14	T	C	1: 189,530,767 (GRCm39)	L78P	probably damaging	Het
Ralgapa1	A	C	12: 55,766,408 (GRCm39)	D1295E	probably damaging	Het
Rnf213	G	A	11: 119,299,846 (GRCm39)	D192N	probably damaging	Het
Ropn1	A	G	16: 34,487,167 (GRCm39)	I34M	probably damaging	Het
Rpe65	G	T	3: 159,310,038 (GRCm39)	G104C	probably damaging	Het
Scgb2b27	T	C	7: 33,712,582 (GRCm39)		probably benign	Het
Sh3bgr	T	C	16: 96,007,117 (GRCm39)	I29T	possibly damaging	Het
Smg1	T	C	7: 117,794,304 (GRCm39)		probably benign	Het
Stim2	T	A	5: 54,232,712 (GRCm39)	C68*	probably null	Het
Syne2	G	A	12: 76,035,917 (GRCm39)	V3736I	possibly damaging	Het
Tbx19	T	C	1: 164,981,249 (GRCm39)	N82D	probably damaging	Het
Tdp1	T	A	12: 99,876,544 (GRCm39)	V353D	probably damaging	Het
Tg	T	A	15: 66,568,369 (GRCm39)	I1352K	possibly damaging	Het
Thsd4	T	C	9: 59,887,066 (GRCm39)	T919A	probably damaging	Het
Tmprss11f	A	T	5: 86,676,062 (GRCm39)	M373K	probably damaging	Het
Tmprss15	T	A	16: 78,868,335 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Ube2o	G	A	11: 116,435,268 (GRCm39)	R507C	probably damaging	Het
Unc93b1	T	C	19: 3,993,703 (GRCm39)	F382L	probably benign	Het
Vav2	A	T	2: 27,160,122 (GRCm39)		probably benign	Het
Vmn1r207	T	C	13: 22,910,686 (GRCm39)		noncoding transcript	Het
Zan	T	A	5: 137,435,013 (GRCm39)	I2127F	unknown	Het
Zfp748	C	A	13: 67,688,737 (GRCm39)	C841F	probably damaging	Het
Zic4	C	A	9: 91,266,253 (GRCm39)	P299Q	probably damaging	Het

Other mutations in Atmin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Atmin	APN	8	117,683,396 (GRCm39)	missense	probably damaging	1.00
IGL02680:Atmin	APN	8	117,684,236 (GRCm39)	missense	probably damaging	1.00
IGL03355:Atmin	APN	8	117,684,164 (GRCm39)	nonsense	probably null
K3955:Atmin	UTSW	8	117,683,775 (GRCm39)	nonsense	probably null
P0038:Atmin	UTSW	8	117,683,775 (GRCm39)	nonsense	probably null
R1440:Atmin	UTSW	8	117,684,115 (GRCm39)	missense	probably damaging	0.98
R1498:Atmin	UTSW	8	117,681,540 (GRCm39)	missense	probably benign	0.21
R1515:Atmin	UTSW	8	117,681,579 (GRCm39)	missense	possibly damaging	0.87
R2094:Atmin	UTSW	8	117,684,277 (GRCm39)	missense	probably damaging	1.00
R2306:Atmin	UTSW	8	117,684,389 (GRCm39)	missense	probably benign	0.04
R2363:Atmin	UTSW	8	117,681,653 (GRCm39)	critical splice donor site	probably null
R2866:Atmin	UTSW	8	117,683,112 (GRCm39)	missense	probably benign
R3743:Atmin	UTSW	8	117,683,312 (GRCm39)	missense	probably benign	0.02
R3901:Atmin	UTSW	8	117,683,036 (GRCm39)	missense	probably benign	0.00
R3902:Atmin	UTSW	8	117,683,036 (GRCm39)	missense	probably benign	0.00
R4664:Atmin	UTSW	8	117,684,698 (GRCm39)	missense	probably damaging	1.00
R4665:Atmin	UTSW	8	117,684,698 (GRCm39)	missense	probably damaging	1.00
R4666:Atmin	UTSW	8	117,684,698 (GRCm39)	missense	probably damaging	1.00
R5496:Atmin	UTSW	8	117,683,911 (GRCm39)	missense	probably benign	0.01
R6914:Atmin	UTSW	8	117,683,452 (GRCm39)	missense	probably benign	0.02
R6942:Atmin	UTSW	8	117,683,452 (GRCm39)	missense	probably benign	0.02
R6965:Atmin	UTSW	8	117,683,777 (GRCm39)	missense	probably damaging	1.00
R7172:Atmin	UTSW	8	117,683,281 (GRCm39)	missense	probably damaging	1.00
R7492:Atmin	UTSW	8	117,683,657 (GRCm39)	missense	probably damaging	1.00
R7647:Atmin	UTSW	8	117,684,661 (GRCm39)	missense	possibly damaging	0.86
R8068:Atmin	UTSW	8	117,683,389 (GRCm39)	missense	probably benign	0.00
R8726:Atmin	UTSW	8	117,681,525 (GRCm39)	missense	possibly damaging	0.63
R8734:Atmin	UTSW	8	117,681,525 (GRCm39)	missense	possibly damaging	0.63
R8991:Atmin	UTSW	8	117,679,665 (GRCm39)	missense	probably damaging	1.00
R9284:Atmin	UTSW	8	117,684,019 (GRCm39)	missense	probably benign	0.32
R9429:Atmin	UTSW	8	117,670,307 (GRCm39)	missense	probably benign	0.02
R9478:Atmin	UTSW	8	117,681,537 (GRCm39)	missense	probably damaging	0.99
R9535:Atmin	UTSW	8	117,683,327 (GRCm39)	missense	probably damaging	0.96
R9720:Atmin	UTSW	8	117,681,653 (GRCm39)	critical splice donor site	probably null
V7732:Atmin	UTSW	8	117,683,218 (GRCm39)	missense	probably damaging	1.00
X0020:Atmin	UTSW	8	117,679,721 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAACACTCCAGCTTCTCC -3'
(R):5'- TCTAAACAGCTGCCCCACTG -3'

Sequencing Primer
(F):5'- AGCTTCTCCATGAGTACCGAC -3'
(R):5'- TGACTACATCCCCAGTCGGTG -3'

Posted On

2016-09-01