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

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02519

Quality Score

Status

Chromosome

Chromosomal Location

121064067-121074572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121068273 bp (GRCm38)

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
4932438A13Rik	A	G	3: 36,895,315	E370G	probably damaging	Het
Adamts13	A	T	2: 26,978,675	I224F	probably damaging	Het
Adamts17	A	G	7: 67,124,973	T947A	possibly damaging	Het
Ankfn1	T	C	11: 89,405,678	E75G	probably benign	Het
Arfgef1	G	T	1: 10,209,668	H225N	probably benign	Het
Arsi	A	G	18: 60,917,067	S341G	probably damaging	Het
Aspm	T	A	1: 139,461,927		probably benign	Het
Cacna1i	C	T	15: 80,361,874	R490*	probably null	Het
Cd33	C	T	7: 43,528,729		probably benign	Het
Clmn	T	C	12: 104,791,853	I135V	probably damaging	Het
Crebbp	A	T	16: 4,101,593	N795K	possibly damaging	Het
Dhps	A	G	8: 85,073,299	D126G	probably damaging	Het
Dlg2	G	T	7: 91,940,115	V196L	possibly damaging	Het
Dsg1c	T	A	18: 20,283,733	I897N	probably damaging	Het
Dzip3	A	G	16: 48,928,396	L1059S	probably damaging	Het
Epha7	A	T	4: 28,821,494	T220S	possibly damaging	Het
Fgf17	A	G	14: 70,638,528	I88T	probably damaging	Het
G3bp2	A	G	5: 92,066,524	V137A	possibly damaging	Het
Gnal	G	A	18: 67,088,765	E80K	unknown	Het
Hectd1	T	G	12: 51,769,111	S1393R	probably damaging	Het
Il2ra	A	C	2: 11,683,090	E227A	possibly damaging	Het
Iqcf6	C	T	9: 106,627,280	R48C	probably damaging	Het
Kdm3a	G	T	6: 71,611,586	Q480K	probably benign	Het
Larp4b	C	A	13: 9,158,580	A423E	probably benign	Het
Magea6	T	C	X: 154,924,745	D105G	probably benign	Het
Nop53	C	A	7: 15,939,272		probably benign	Het
Olfr307	A	T	7: 86,335,581	F272I	probably benign	Het
Olfr338	T	C	2: 36,377,313	L179P	possibly damaging	Het
Pgghg	A	G	7: 140,944,981	T352A	possibly damaging	Het
Setd2	T	C	9: 110,553,116	S1464P	probably damaging	Het
Sspo	C	A	6: 48,484,828	T3609N	probably damaging	Het
Sulf1	T	A	1: 12,838,363	Y533*	probably null	Het
Thsd7b	A	G	1: 129,613,195	S346G	probably benign	Het
Tmem161b	T	A	13: 84,294,744	L261Q	probably damaging	Het
Tmem63b	T	A	17: 45,665,208	T493S	possibly damaging	Het
Tmprss11d	A	T	5: 86,306,305	C214S	probably damaging	Het
Trim16	A	T	11: 62,834,079	E144V	possibly damaging	Het
Unc13d	T	C	11: 116,070,533	Y356C	probably damaging	Het
Urgcp	A	T	11: 5,717,745	F198I	probably benign	Het
Vmn2r111	T	C	17: 22,548,339	I726V	possibly damaging	Het
Zzz3	A	T	3: 152,427,390	E28D	probably damaging	Het

Other mutations in Igsf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Igsf6	APN	7	121070653	nonsense	probably null
IGL01592:Igsf6	APN	7	121070793	missense	probably damaging	1.00
IGL02636:Igsf6	APN	7	121067280	intron	probably benign
R0106:Igsf6	UTSW	7	121074454	missense	probably benign	0.28
R0106:Igsf6	UTSW	7	121074454	missense	probably benign	0.28
R1776:Igsf6	UTSW	7	121068299	missense	probably damaging	0.97
R1817:Igsf6	UTSW	7	121070808	missense	probably damaging	1.00
R7770:Igsf6	UTSW	7	121068325	missense	probably benign	0.01
R9435:Igsf6	UTSW	7	121067249	missense	probably damaging	1.00
R9500:Igsf6	UTSW	7	121074474	missense	probably benign	0.03

Posted On

2015-04-16