Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01592:Igsf6'

91614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igsf6

Ensembl Gene

ENSMUSG00000035004

Gene Name

immunoglobulin superfamily, member 6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL01592

Quality Score

Status

Chromosome

Chromosomal Location

120663290-120673753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120670016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 42 (Y42C)

Ref Sequence

ENSEMBL: ENSMUSP00000039059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033163] [ENSMUST00000047194] [ENSMUST00000207351]

AlphaFold

P0C6B7

Predicted Effect

probably benign
Transcript: ENSMUST00000033163

SMART Domains

Protein: ENSMUSP00000033163
Gene: ENSMUSG00000030876

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	39	50	N/A	INTRINSIC
Pfam:DREV	56	317	1.4e-142	PFAM
Pfam:Methyltransf_23	123	289	2.7e-12	PFAM
Pfam:Methyltransf_12	150	236	9.1e-10	PFAM
Pfam:Methyltransf_11	150	238	9.4e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000047194
AA Change: Y42C

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

SMART Domains

Protein: ENSMUSP00000039059
Gene: ENSMUSG00000035004
AA Change: Y42C

Domain	Start	End	E-Value	Type
IG	35	142	2.79e-2	SMART
transmembrane domain	154	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207835

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	G	12: 53,188,925 (GRCm39)	D2113G	probably damaging	Het
Atf6b	T	A	17: 34,868,111 (GRCm39)	V125E	probably damaging	Het
Cdan1	T	A	2: 120,556,466 (GRCm39)	Y653F	probably damaging	Het
Ces1d	A	G	8: 93,921,717 (GRCm39)		probably benign	Het
Dnah2	G	T	11: 69,321,913 (GRCm39)	N3802K	probably benign	Het
Dnah5	A	G	15: 28,236,783 (GRCm39)	I370V	probably benign	Het
Dpp10	T	C	1: 123,262,099 (GRCm39)	E761G	probably damaging	Het
Dusp19	A	G	2: 80,447,825 (GRCm39)	E33G	probably damaging	Het
E2f7	T	A	10: 110,582,267 (GRCm39)	D25E	possibly damaging	Het
E2f8	T	C	7: 48,517,605 (GRCm39)	T733A	probably damaging	Het
Golga1	T	C	2: 38,953,294 (GRCm39)	E32G	probably damaging	Het
Grip1	T	A	10: 119,765,908 (GRCm39)	V80E	probably damaging	Het
Katna1	T	G	10: 7,617,218 (GRCm39)	M70R	probably damaging	Het
Limk2	T	C	11: 3,309,052 (GRCm39)	K102R	probably benign	Het
Lypla1	T	A	1: 4,898,874 (GRCm39)		probably null	Het
Or2z9	T	A	8: 72,854,356 (GRCm39)	F251I	probably damaging	Het
Or6c69b	A	G	10: 129,627,188 (GRCm39)	I90T	probably damaging	Het
Pgap1	G	A	1: 54,560,470 (GRCm39)	P444L	probably damaging	Het
Pigr	G	A	1: 130,776,795 (GRCm39)	V657M	probably damaging	Het
Plscr1	T	A	9: 92,148,803 (GRCm39)	Y214*	probably null	Het
Polq	A	C	16: 36,855,212 (GRCm39)	I436L	probably benign	Het
Ppfia2	T	A	10: 106,671,909 (GRCm39)		probably benign	Het
Serpina12	A	G	12: 104,004,381 (GRCm39)	S84P	probably damaging	Het
Slc30a6	T	A	17: 74,726,523 (GRCm39)		probably benign	Het
Trim38	A	G	13: 23,975,410 (GRCm39)	T450A	possibly damaging	Het
Ubqlnl	A	T	7: 103,799,496 (GRCm39)		probably benign	Het
Vmn2r24	A	G	6: 123,764,445 (GRCm39)	K441E	probably benign	Het
Wnt8a	A	G	18: 34,677,846 (GRCm39)	T85A	probably damaging	Het

Other mutations in Igsf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Igsf6	APN	7	120,669,876 (GRCm39)	nonsense	probably null
IGL02519:Igsf6	APN	7	120,667,496 (GRCm39)	missense	possibly damaging	0.72
IGL02636:Igsf6	APN	7	120,666,503 (GRCm39)	intron	probably benign
R0106:Igsf6	UTSW	7	120,673,677 (GRCm39)	missense	probably benign	0.28
R0106:Igsf6	UTSW	7	120,673,677 (GRCm39)	missense	probably benign	0.28
R1776:Igsf6	UTSW	7	120,667,522 (GRCm39)	missense	probably damaging	0.97
R1817:Igsf6	UTSW	7	120,670,031 (GRCm39)	missense	probably damaging	1.00
R7770:Igsf6	UTSW	7	120,667,548 (GRCm39)	missense	probably benign	0.01
R9435:Igsf6	UTSW	7	120,666,472 (GRCm39)	missense	probably damaging	1.00
R9500:Igsf6	UTSW	7	120,673,697 (GRCm39)	missense	probably benign	0.03

Posted On

2013-12-09