Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01519:Gm8122'

89402

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm8122

Ensembl Gene

ENSMUSG00000094784

Gene Name

predicted gene 8122

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01519

Quality Score

Status

Chromosome

Chromosomal Location

43087289-43092761 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43092696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 22 (I22L)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000165988
AA Change: I22L

SMART Domains

Protein: ENSMUSP00000131304
Gene: ENSMUSG00000094784
AA Change: I22L

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	2.1e-27	PFAM
coiled coil region	164	186	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap17b	T	C	X: 35,875,503 (GRCm39)	D668G	probably damaging	Het
Btbd3	A	G	2: 138,121,697 (GRCm39)	M127V	probably benign	Het
Btbd9	T	C	17: 30,518,575 (GRCm39)	T462A	possibly damaging	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Chd1	G	A	17: 17,598,831 (GRCm39)	G98R	probably damaging	Het
Ckap2	G	A	8: 22,658,914 (GRCm39)	R610C	probably benign	Het
Col18a1	C	T	10: 76,895,157 (GRCm39)	R1168H	probably damaging	Het
Csmd3	G	A	15: 47,460,246 (GRCm39)	T3515I	probably benign	Het
Dcn	A	G	10: 97,319,385 (GRCm39)	Q54R	probably damaging	Het
Dock11	A	G	X: 35,227,006 (GRCm39)	I86V	probably benign	Het
Dram2	T	A	3: 106,478,945 (GRCm39)	I179N	possibly damaging	Het
Fbn1	C	T	2: 125,158,939 (GRCm39)	M2275I	probably benign	Het
Gga2	A	G	7: 121,601,411 (GRCm39)	S231P	probably damaging	Het
Gk2	T	A	5: 97,603,646 (GRCm39)	L397F	probably damaging	Het
Golga4	A	G	9: 118,356,160 (GRCm39)	E104G	probably damaging	Het
Herc2	G	A	7: 55,753,698 (GRCm39)	R699H	probably damaging	Het
Hrh1	A	C	6: 114,457,262 (GRCm39)	E181A	probably damaging	Het
Lsm8	T	C	6: 18,851,699 (GRCm39)	F50S	probably damaging	Het
Or1f19	T	A	16: 3,410,398 (GRCm39)	I46N	probably damaging	Het
Pard6g	A	G	18: 80,123,071 (GRCm39)	D35G	probably benign	Het
Plod2	G	A	9: 92,477,348 (GRCm39)	V347I	probably benign	Het
Pramel51	T	C	12: 88,144,331 (GRCm39)	R161G	probably benign	Het
Snx13	T	C	12: 35,188,471 (GRCm39)		probably benign	Het
Taf1	T	A	X: 100,606,412 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,313,634 (GRCm39)	Y351C	probably damaging	Het
Tenm4	C	A	7: 96,544,384 (GRCm39)	D2133E	probably damaging	Het
Thap7	A	C	16: 17,346,609 (GRCm39)		probably benign	Het
Tpr	T	A	1: 150,306,919 (GRCm39)	S1505T	probably benign	Het
Trav9-2	C	T	14: 53,828,809 (GRCm39)	R60W	probably damaging	Het
Ttn	A	G	2: 76,708,692 (GRCm39)		probably benign	Het

Other mutations in Gm8122

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01767:Gm8122	APN	14	43,090,158 (GRCm39)	missense	unknown
IGL02503:Gm8122	APN	14	43,092,645 (GRCm39)	missense	unknown
IGL03266:Gm8122	APN	14	43,090,116 (GRCm39)	missense	unknown
R4394:Gm8122	UTSW	14	43,091,525 (GRCm39)	missense	unknown
R4915:Gm8122	UTSW	14	43,091,573 (GRCm39)	missense	unknown
R4918:Gm8122	UTSW	14	43,091,573 (GRCm39)	missense	unknown
R5727:Gm8122	UTSW	14	43,091,477 (GRCm39)	missense	unknown
R7349:Gm8122	UTSW	14	43,088,058 (GRCm39)	critical splice acceptor site	probably null
R7350:Gm8122	UTSW	14	43,088,058 (GRCm39)	critical splice acceptor site	probably null
R8220:Gm8122	UTSW	14	43,090,174 (GRCm39)	splice site	probably null

Posted On

2013-12-03