Mutagenetix > Incidental Mutation

Incidental Mutation 'R7172:Atmin'

558353

Institutional Source

Beutler Lab

Gene Symbol

Atmin

Ensembl Gene

ENSMUSG00000047388

Gene Name

ATM interactor

Synonyms

gpg6, Asciz

MMRRC Submission

045264-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117670132-117687184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 117683281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 314 (V314L)

Ref Sequence

ENSEMBL: ENSMUSP00000104727 (fasta)

Gene Model

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

AlphaFold

Q6P9S1

Predicted Effect

probably damaging
Transcript: ENSMUST00000109099
AA Change: V314L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104727
Gene: ENSMUSG00000047388
AA Change: V314L

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

0.0583

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (74/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	T	2: 122,480,238 (GRCm39)	Y33F	probably damaging	Het
Abca4	C	T	3: 121,897,189 (GRCm39)	Q623*	probably null	Het
Abcb1a	A	T	5: 8,752,399 (GRCm39)	I457F	probably benign	Het
Abcb9	G	A	5: 124,200,869 (GRCm39)	Q716*	probably null	Het
Abhd15	T	C	11: 77,406,122 (GRCm39)	V33A	probably benign	Het
Abl2	A	G	1: 156,450,157 (GRCm39)	D108G	probably damaging	Het
Adamts3	G	A	5: 90,030,860 (GRCm39)		probably benign	Het
Axl	G	T	7: 25,486,399 (GRCm39)	Q102K	probably benign	Het
Cdhr5	A	G	7: 140,851,841 (GRCm39)	S488P	possibly damaging	Het
Cnn1	C	A	9: 22,016,790 (GRCm39)	A126D	probably damaging	Het
Col25a1	A	T	3: 130,363,981 (GRCm39)	K537*	probably null	Het
Cxcl2	A	G	5: 91,051,879 (GRCm39)	T26A	probably benign	Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dnah17	T	A	11: 117,931,957 (GRCm39)	K3672*	probably null	Het
Fadd	G	T	7: 144,135,908 (GRCm39)	H73Q	probably benign	Het
Fancm	A	G	12: 65,152,828 (GRCm39)	N1095D	possibly damaging	Het
Fhod3	T	C	18: 25,218,603 (GRCm39)	S789P	probably damaging	Het
Glis2	G	A	16: 4,431,339 (GRCm39)	V289I	probably benign	Het
Gm17728	A	C	17: 9,641,220 (GRCm39)	D110A	probably damaging	Het
Gm9602	T	A	14: 15,933,429 (GRCm39)	S45T	possibly damaging	Het
Gpr137	A	G	19: 6,917,049 (GRCm39)	S161P	possibly damaging	Het
Gpr89	C	T	3: 96,787,385 (GRCm39)		probably null	Het
Gps2	C	T	11: 69,807,262 (GRCm39)	T306I	probably benign	Het
Hmcn1	A	G	1: 150,629,450 (GRCm39)	Y936H	possibly damaging	Het
Hoxa5	A	G	6: 52,181,276 (GRCm39)	Y19H	probably damaging	Het
Ifit2	G	T	19: 34,550,894 (GRCm39)	A145S	probably benign	Het
Impdh2	G	T	9: 108,437,809 (GRCm39)	C26F	probably benign	Het
Kcnh6	T	C	11: 105,911,100 (GRCm39)	Y552H	possibly damaging	Het
Kcnma1	A	T	14: 23,576,691 (GRCm39)	M254K	probably damaging	Het
Klhdc9	A	T	1: 171,188,228 (GRCm39)	M1K	probably null	Het
Klk1b11	A	T	7: 43,648,671 (GRCm39)	D194V	possibly damaging	Het
Lama1	A	G	17: 68,111,540 (GRCm39)	I2264V		Het
Lmntd2	A	G	7: 140,793,554 (GRCm39)	S111P	unknown	Het
Megf8	T	C	7: 25,043,092 (GRCm39)	L1338P	probably damaging	Het
Mipol1	G	A	12: 57,372,321 (GRCm39)	E127K	possibly damaging	Het
Mmp25	A	T	17: 23,863,762 (GRCm39)	C23S	probably benign	Het
Mup8	A	T	4: 60,222,425 (GRCm39)	C15*	probably null	Het
Myh2	A	T	11: 67,079,527 (GRCm39)	T995S	probably benign	Het
Myo1d	C	T	11: 80,483,621 (GRCm39)	V863I	probably benign	Het
N4bp1	A	G	8: 87,587,052 (GRCm39)		probably null	Het
Nat10	G	T	2: 103,563,314 (GRCm39)	P562T	probably damaging	Het
Nedd9	C	G	13: 41,470,280 (GRCm39)	R291P	probably benign	Het
Nlrc3	G	T	16: 3,781,617 (GRCm39)	H613Q	probably benign	Het
Ntn1	A	T	11: 68,276,493 (GRCm39)	C152S	probably damaging	Het
Or2av9	T	A	11: 58,380,571 (GRCm39)	I337F	unknown	Het
Pam	A	T	1: 97,762,203 (GRCm39)	D793E	probably benign	Het
Patz1	T	G	11: 3,258,032 (GRCm39)	V631G	probably benign	Het
Pcdh15	G	A	10: 74,338,597 (GRCm39)	V1068M	probably damaging	Het
Pramel17	A	G	4: 101,694,193 (GRCm39)	V230A	probably benign	Het
Prmt5	A	G	14: 54,752,343 (GRCm39)	F151S	possibly damaging	Het
Pygo2	G	A	3: 89,339,943 (GRCm39)	V114I	probably benign	Het
Rabgap1l	A	T	1: 160,561,156 (GRCm39)	S220R	probably benign	Het
Rdh7	T	G	10: 127,724,218 (GRCm39)	S89R	possibly damaging	Het
Rgsl1	A	C	1: 153,701,966 (GRCm39)	W163G	possibly damaging	Het
Ryr3	T	A	2: 112,492,002 (GRCm39)	N3783I	probably damaging	Het
Shld2	G	A	14: 33,959,525 (GRCm39)	T819I	probably damaging	Het
Slit1	A	G	19: 41,623,105 (GRCm39)	L644P	probably damaging	Het
Steap2	A	G	5: 5,732,896 (GRCm39)	S43P	possibly damaging	Het
Susd1	A	T	4: 59,315,420 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,981,390 (GRCm39)	M686V	probably damaging	Het
Tdrp	G	A	8: 14,024,579 (GRCm39)	R22*	probably null	Het
Tmem245	A	G	4: 56,903,946 (GRCm39)	V598A	possibly damaging	Het
Tnxb	A	G	17: 34,914,994 (GRCm39)	E1994G	probably damaging	Het
Trcg1	T	A	9: 57,155,618 (GRCm39)	V757E	probably benign	Het
Trim10	A	G	17: 37,180,955 (GRCm39)	E62G	possibly damaging	Het
Ushbp1	G	T	8: 71,841,410 (GRCm39)	A473E	possibly damaging	Het
Vmn1r50	A	C	6: 90,084,386 (GRCm39)	K44Q	possibly damaging	Het
Wdr75	A	G	1: 45,838,294 (GRCm39)	N68D	probably damaging	Het
Wdr83	A	G	8: 85,806,453 (GRCm39)	V115A	probably damaging	Het
Zdhhc17	A	G	10: 110,845,809 (GRCm39)	L28P	possibly damaging	Het
Zfp738	C	T	13: 67,818,527 (GRCm39)	C488Y	probably damaging	Het
Zfp987	T	G	4: 146,058,572 (GRCm39)	L50W	probably damaging	Het
Zfyve28	G	T	5: 34,391,753 (GRCm39)	R133S	probably benign	Het
Zscan20	G	T	4: 128,479,469 (GRCm39)	C1007*	probably null	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
R5441:Atmin	UTSW	8	117,684,696 (GRCm39)	missense	probably damaging	0.99
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
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'- TGAACCACTGAGCGACCAAG -3'
(R):5'- ATTCATTGGCTCAACAACAGG -3'

Sequencing Primer
(F):5'- ATGCTGCTGAACCGGATG -3'
(R):5'- CAGGACTGATAATTTTTGAGAGAGG -3'

Posted On

2019-06-26