Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02519:Igsf6'

296885

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 #

IGL02519

Quality Score

Status

Chromosome

Chromosomal Location

120663290-120673753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120667496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 173 (I173M)

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

possibly damaging
Transcript: ENSMUST00000047194
AA Change: I173M

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039059
Gene: ENSMUSG00000035004
AA Change: I173M

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: ENSMUST00000207806

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	T	2: 26,868,687 (GRCm39)	I224F	probably damaging	Het
Adamts17	A	G	7: 66,774,721 (GRCm39)	T947A	possibly damaging	Het
Ankfn1	T	C	11: 89,296,504 (GRCm39)	E75G	probably benign	Het
Arfgef1	G	T	1: 10,279,893 (GRCm39)	H225N	probably benign	Het
Arsi	A	G	18: 61,050,139 (GRCm39)	S341G	probably damaging	Het
Aspm	T	A	1: 139,389,665 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 36,949,464 (GRCm39)	E370G	probably damaging	Het
Cacna1i	C	T	15: 80,246,075 (GRCm39)	R490*	probably null	Het
Cd33	C	T	7: 43,178,153 (GRCm39)		probably benign	Het
Clmn	T	C	12: 104,758,112 (GRCm39)	I135V	probably damaging	Het
Crebbp	A	T	16: 3,919,457 (GRCm39)	N795K	possibly damaging	Het
Dhps	A	G	8: 85,799,928 (GRCm39)	D126G	probably damaging	Het
Dlg2	G	T	7: 91,589,323 (GRCm39)	V196L	possibly damaging	Het
Dsg1c	T	A	18: 20,416,790 (GRCm39)	I897N	probably damaging	Het
Dzip3	A	G	16: 48,748,759 (GRCm39)	L1059S	probably damaging	Het
Epha7	A	T	4: 28,821,494 (GRCm39)	T220S	possibly damaging	Het
Fgf17	A	G	14: 70,875,968 (GRCm39)	I88T	probably damaging	Het
G3bp2	A	G	5: 92,214,383 (GRCm39)	V137A	possibly damaging	Het
Gnal	G	A	18: 67,221,836 (GRCm39)	E80K	unknown	Het
Hectd1	T	G	12: 51,815,894 (GRCm39)	S1393R	probably damaging	Het
Il2ra	A	C	2: 11,687,901 (GRCm39)	E227A	possibly damaging	Het
Iqcf6	C	T	9: 106,504,479 (GRCm39)	R48C	probably damaging	Het
Kdm3a	G	T	6: 71,588,570 (GRCm39)	Q480K	probably benign	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Magea6	T	C	X: 153,707,741 (GRCm39)	D105G	probably benign	Het
Nop53	C	A	7: 15,673,197 (GRCm39)		probably benign	Het
Or14a260	A	T	7: 85,984,789 (GRCm39)	F272I	probably benign	Het
Or1j10	T	C	2: 36,267,325 (GRCm39)	L179P	possibly damaging	Het
Pgghg	A	G	7: 140,524,894 (GRCm39)	T352A	possibly damaging	Het
Setd2	T	C	9: 110,382,184 (GRCm39)	S1464P	probably damaging	Het
Sspo	C	A	6: 48,461,762 (GRCm39)	T3609N	probably damaging	Het
Sulf1	T	A	1: 12,908,587 (GRCm39)	Y533*	probably null	Het
Thsd7b	A	G	1: 129,540,932 (GRCm39)	S346G	probably benign	Het
Tmem161b	T	A	13: 84,442,863 (GRCm39)	L261Q	probably damaging	Het
Tmem63b	T	A	17: 45,976,134 (GRCm39)	T493S	possibly damaging	Het
Tmprss11d	A	T	5: 86,454,164 (GRCm39)	C214S	probably damaging	Het
Trim16	A	T	11: 62,724,905 (GRCm39)	E144V	possibly damaging	Het
Unc13d	T	C	11: 115,961,359 (GRCm39)	Y356C	probably damaging	Het
Urgcp	A	T	11: 5,667,745 (GRCm39)	F198I	probably benign	Het
Vmn2r111	T	C	17: 22,767,320 (GRCm39)	I726V	possibly damaging	Het
Zzz3	A	T	3: 152,133,027 (GRCm39)	E28D	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
IGL01592:Igsf6	APN	7	120,670,016 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16