Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03355:Atmin'

419898

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atmin

Ensembl Gene

ENSMUSG00000047388

Gene Name

ATM interactor

Synonyms

gpg6, Asciz

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03355

Quality Score

Status

Chromosome

Chromosomal Location

117670132-117687184 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 117684164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 608 (L608*)

Ref Sequence

ENSEMBL: ENSMUSP00000104727 (fasta)

Gene Model

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

AlphaFold

Q6P9S1

Predicted Effect

probably null
Transcript: ENSMUST00000109099
AA Change: L608*

SMART Domains

Protein: ENSMUSP00000104727
Gene: ENSMUSG00000047388
AA Change: L608*

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

Coding Region Coverage

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt1	T	C	X: 45,418,624 (GRCm39)	V213A	probably benign	Het
Adam28	A	T	14: 68,872,252 (GRCm39)		probably benign	Het
Apeh	T	C	9: 107,963,644 (GRCm39)	H557R	probably benign	Het
B3gnt5	A	T	16: 19,587,903 (GRCm39)	M41L	probably benign	Het
Best3	T	C	10: 116,829,010 (GRCm39)	F97L	possibly damaging	Het
Chmp1b2	C	A	X: 106,831,889 (GRCm39)	V180F	possibly damaging	Het
Col7a1	G	A	9: 108,807,228 (GRCm39)	V2486M	unknown	Het
Crym	T	C	7: 119,798,536 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,482,868 (GRCm39)		probably null	Het
Dnah7b	A	G	1: 46,158,464 (GRCm39)	D349G	probably benign	Het
Eea1	T	C	10: 95,878,074 (GRCm39)		probably benign	Het
Emc1	C	T	4: 139,098,904 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,489,143 (GRCm39)		probably benign	Het
Ereg	A	G	5: 91,236,440 (GRCm39)		probably benign	Het
Faah	G	A	4: 115,859,725 (GRCm39)	P369S	probably benign	Het
Fam135a	A	T	1: 24,068,249 (GRCm39)	N703K	possibly damaging	Het
Frmpd1	T	C	4: 45,279,140 (GRCm39)	S622P	probably damaging	Het
Gm10030	A	G	9: 110,835,841 (GRCm39)		noncoding transcript	Het
Gpr179	A	T	11: 97,228,434 (GRCm39)	S1240R	possibly damaging	Het
Hax1	A	T	3: 89,904,754 (GRCm39)	H146Q	possibly damaging	Het
Ift46	A	G	9: 44,693,445 (GRCm39)	N31D	possibly damaging	Het
Kel	C	T	6: 41,675,821 (GRCm39)		probably null	Het
Khk	A	T	5: 31,086,904 (GRCm39)	I108L	probably benign	Het
Morc4	T	C	X: 138,750,431 (GRCm39)	N375S	probably null	Het
Mta3	A	T	17: 84,107,474 (GRCm39)		probably benign	Het
Nacc2	T	C	2: 25,952,249 (GRCm39)	K369R	probably damaging	Het
Nkap	T	C	X: 36,403,323 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,928,618 (GRCm39)	L6016Q	probably damaging	Het
Or52e2	T	C	7: 102,804,408 (GRCm39)	E182G	probably damaging	Het
Or8c9	A	T	9: 38,240,952 (GRCm39)	Q20L	probably benign	Het
Pde4c	T	A	8: 71,199,244 (GRCm39)	L182Q	probably damaging	Het
Pla2g10	G	T	16: 13,548,284 (GRCm39)		probably null	Het
Rap1gap2	T	A	11: 74,303,170 (GRCm39)	I426F	probably damaging	Het
Rbm33	C	A	5: 28,596,059 (GRCm39)		probably benign	Het
Rnf139	C	A	15: 58,771,881 (GRCm39)	D635E	probably benign	Het
Sar1a	T	C	10: 61,520,718 (GRCm39)	V15A	possibly damaging	Het
Scarb1	A	C	5: 125,366,766 (GRCm39)	S56A	probably benign	Het
Scn3a	T	C	2: 65,290,912 (GRCm39)	K1945E	possibly damaging	Het
Sec62	G	A	3: 30,864,071 (GRCm39)	G118R	unknown	Het
Sgce	T	A	6: 4,689,738 (GRCm39)	Q356L	probably damaging	Het
Slco4c1	A	T	1: 96,770,232 (GRCm39)	Y277*	probably null	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Sphkap	A	T	1: 83,258,224 (GRCm39)	I173N	probably damaging	Het
Spred3	C	T	7: 28,860,997 (GRCm39)	C394Y	unknown	Het
Stra6l	A	G	4: 45,873,689 (GRCm39)	D283G	probably benign	Het
Tipin	A	T	9: 64,195,406 (GRCm39)	Q4L	probably benign	Het
Tmprss11c	T	A	5: 86,379,730 (GRCm39)	I380F	probably benign	Het
Tymp	T	C	15: 89,259,219 (GRCm39)	D195G	possibly damaging	Het
Ugt2b34	T	A	5: 87,054,544 (GRCm39)	Y79F	probably benign	Het
Vmn2r16	T	A	5: 109,511,580 (GRCm39)	S596T	possibly damaging	Het
Wdhd1	A	G	14: 47,481,346 (GRCm39)	S1024P	possibly 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
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
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

Posted On

2016-08-02