Mutagenetix > Incidental Mutations

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

Ncbi RefSeq: NM_177700.4; MGI:2682328

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03355

Quality Score

Status

Chromosome

Chromosomal Location

116943393-116960445 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 116957425 bp

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]

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

Strain: 4868762; 4881337
Lethality: E16-E19
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
2610002M06Rik	C	A	X: 107,788,283	V180F	possibly damaging	Het
Actrt1	T	C	X: 46,329,747	V213A	probably benign	Het
Adam28	A	T	14: 68,634,803		probably benign	Het
Apeh	T	C	9: 108,086,445	H557R	probably benign	Het
B3gnt5	A	T	16: 19,769,153	M41L	probably benign	Het
Best3	T	C	10: 116,993,105	F97L	possibly damaging	Het
Col7a1	G	A	9: 108,978,160	V2486M	unknown	Het
Crym	T	C	7: 120,199,313		probably null	Het
Cubn	T	C	2: 13,478,057		probably null	Het
Dnah7b	A	G	1: 46,119,304	D349G	probably benign	Het
Eea1	T	C	10: 96,042,212		probably benign	Het
Emc1	C	T	4: 139,371,593		probably benign	Het
Eps8	T	C	6: 137,512,145		probably benign	Het
Ereg	A	G	5: 91,088,581		probably benign	Het
Faah	G	A	4: 116,002,528	P369S	probably benign	Het
Fam135a	A	T	1: 24,029,168	N703K	possibly damaging	Het
Frmpd1	T	C	4: 45,279,140	S622P	probably damaging	Het
Gm10030	A	G	9: 111,006,773		noncoding transcript	Het
Gpr179	A	T	11: 97,337,608	S1240R	possibly damaging	Het
Hax1	A	T	3: 89,997,447	H146Q	possibly damaging	Het
Ift46	A	G	9: 44,782,148	N31D	possibly damaging	Het
Kel	C	T	6: 41,698,887		probably null	Het
Khk	A	T	5: 30,929,560	I108L	probably benign	Het
Morc4	T	C	X: 139,849,682	N375S	probably null	Het
Mta3	A	T	17: 83,800,045		probably benign	Het
Nacc2	T	C	2: 26,062,237	K369R	probably damaging	Het
Nkap	T	C	X: 37,139,670		probably benign	Het
Obscn	A	T	11: 59,037,792	L6016Q	probably damaging	Het
Olfr25	A	T	9: 38,329,656	Q20L	probably benign	Het
Olfr589	T	C	7: 103,155,201	E182G	probably damaging	Het
Pde4c	T	A	8: 70,746,595	L182Q	probably damaging	Het
Pla2g10	G	T	16: 13,730,420		probably null	Het
Rap1gap2	T	A	11: 74,412,344	I426F	probably damaging	Het
Rbm33	C	A	5: 28,391,061		probably benign	Het
Rnf139	C	A	15: 58,900,032	D635E	probably benign	Het
Sar1a	T	C	10: 61,684,939	V15A	possibly damaging	Het
Scarb1	A	C	5: 125,289,702	S56A	probably benign	Het
Scn3a	T	C	2: 65,460,568	K1945E	possibly damaging	Het
Sec62	G	A	3: 30,809,922	G118R	unknown	Het
Sgce	T	A	6: 4,689,738	Q356L	probably damaging	Het
Slco4c1	A	T	1: 96,842,507	Y277*	probably null	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Sphkap	A	T	1: 83,280,503	I173N	probably damaging	Het
Spred3	C	T	7: 29,161,572	C394Y	unknown	Het
Stra6l	A	G	4: 45,873,689	D283G	probably benign	Het
Tipin	A	T	9: 64,288,124	Q4L	probably benign	Het
Tmprss11c	T	A	5: 86,231,871	I380F	probably benign	Het
Tymp	T	C	15: 89,375,016	D195G	possibly damaging	Het
Ugt2b34	T	A	5: 86,906,685	Y79F	probably benign	Het
Vmn2r16	T	A	5: 109,363,714	S596T	possibly damaging	Het
Wdhd1	A	G	14: 47,243,889	S1024P	possibly damaging	Het

Other mutations in Atmin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Atmin	APN	8	116956657	missense	probably damaging	1.00
IGL02680:Atmin	APN	8	116957497	missense	probably damaging	1.00
K3955:Atmin	UTSW	8	116957036	nonsense	probably null
P0038:Atmin	UTSW	8	116957036	nonsense	probably null
R1440:Atmin	UTSW	8	116957376	missense	probably damaging	0.98
R1498:Atmin	UTSW	8	116954801	missense	probably benign	0.21
R1515:Atmin	UTSW	8	116954840	missense	possibly damaging	0.87
R2094:Atmin	UTSW	8	116957538	missense	probably damaging	1.00
R2306:Atmin	UTSW	8	116957650	missense	probably benign	0.04
R2363:Atmin	UTSW	8	116954914	critical splice donor site	probably null
R2866:Atmin	UTSW	8	116956373	missense	probably benign
R3743:Atmin	UTSW	8	116956573	missense	probably benign	0.02
R3901:Atmin	UTSW	8	116956297	missense	probably benign	0.00
R3902:Atmin	UTSW	8	116956297	missense	probably benign	0.00
R4664:Atmin	UTSW	8	116957959	missense	probably damaging	1.00
R4665:Atmin	UTSW	8	116957959	missense	probably damaging	1.00
R4666:Atmin	UTSW	8	116957959	missense	probably damaging	1.00
R5441:Atmin	UTSW	8	116957957	missense	probably damaging	0.99
R5496:Atmin	UTSW	8	116957172	missense	probably benign	0.01
R6914:Atmin	UTSW	8	116956713	missense	probably benign	0.02
R6942:Atmin	UTSW	8	116956713	missense	probably benign	0.02
R6965:Atmin	UTSW	8	116957038	missense	probably damaging	1.00
R7172:Atmin	UTSW	8	116956542	missense	probably damaging	1.00
R7492:Atmin	UTSW	8	116956918	missense	probably damaging	1.00
R7647:Atmin	UTSW	8	116957922	missense	possibly damaging	0.86
V7732:Atmin	UTSW	8	116956479	missense	probably damaging	1.00
X0020:Atmin	UTSW	8	116952982	missense	probably damaging	1.00

Posted On

2016-08-02