Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03289:Igsf5'

415835

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igsf5

Ensembl Gene

ENSMUSG00000000159

Gene Name

immunoglobulin superfamily, member 5

Synonyms

Igsf5, Jam4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL03289

Quality Score

Status

Chromosome

Chromosomal Location

96361668-96525580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96525432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 271 (D271V)

Ref Sequence

ENSEMBL: ENSMUSP00000109426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061739] [ENSMUST00000113795]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061739
AA Change: D35V

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113795
AA Change: D271V

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
AA Change: D271V

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	125	4.74e-5	SMART
transmembrane domain	139	161	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	A	G	11: 61,877,968		probably benign	Het
Akap9	A	G	5: 4,077,261	Y3703C	probably damaging	Het
Ankk1	A	G	9: 49,415,695	V728A	probably benign	Het
B3galt2	T	C	1: 143,647,304	Y393H	probably damaging	Het
Cd163l1	T	C	7: 140,229,060		probably null	Het
Clcn4	T	A	7: 7,284,258	I664F	probably damaging	Het
Clec2e	A	T	6: 129,098,455	I41N	probably damaging	Het
Col2a1	A	T	15: 97,980,881	N845K	unknown	Het
Cubn	T	G	2: 13,426,967	I1272L	probably benign	Het
Dnajc5	T	C	2: 181,547,467	Y79H	probably damaging	Het
Eml6	G	T	11: 29,795,328	A1006E	possibly damaging	Het
Kalrn	G	A	16: 34,385,297	A70V	possibly damaging	Het
Kcnn2	A	T	18: 45,677,044	K309N	probably damaging	Het
Lrch4	T	C	5: 137,633,577	S22P	probably damaging	Het
Mcpt2	A	T	14: 56,044,337	I215F	probably damaging	Het
Mrc1	T	C	2: 14,308,823		probably null	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Olfr364-ps1	C	T	2: 37,146,578	A122V	probably damaging	Het
Osbp2	A	G	11: 3,863,380	V163A	probably benign	Het
Pla2g6	G	A	15: 79,317,785	P62L	probably damaging	Het
Senp1	G	T	15: 98,085,045	H20Q	probably damaging	Het
Slc16a6	A	G	11: 109,463,499	Y31H	probably damaging	Het
Thbs2	T	A	17: 14,690,122	N72Y	probably benign	Het
Usp34	T	A	11: 23,393,818	S1366T	possibly damaging	Het
Vmn1r216	T	A	13: 23,100,012	D288E	possibly damaging	Het
Vmn2r11	T	C	5: 109,048,922		probably benign	Het
Vnn3	A	T	10: 23,865,837	S347C	possibly damaging	Het
Yme1l1	T	C	2: 23,160,268	V37A	probably benign	Het
Zfp597	A	T	16: 3,865,922	D323E	possibly damaging	Het

Other mutations in Igsf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Igsf5	APN	16	96391020	missense	possibly damaging	0.72
IGL01335:Igsf5	APN	16	96373153	splice site	probably benign
IGL02576:Igsf5	APN	16	96386581	missense	probably benign	0.23
IGL02721:Igsf5	APN	16	96391022	missense	probably damaging	0.98
R0630:Igsf5	UTSW	16	96372823	splice site	probably benign
R1858:Igsf5	UTSW	16	96386629	splice site	probably null
R1961:Igsf5	UTSW	16	96378351	missense	probably damaging	1.00
R2508:Igsf5	UTSW	16	96364047	missense	probably benign	0.01
R4491:Igsf5	UTSW	16	96364081	missense	probably benign	0.02
R5123:Igsf5	UTSW	16	96373079	missense	probably damaging	1.00
R5262:Igsf5	UTSW	16	96391037	nonsense	probably null
R5384:Igsf5	UTSW	16	96391026	missense	probably benign	0.21
R5558:Igsf5	UTSW	16	96386531	missense	possibly damaging	0.95
R5950:Igsf5	UTSW	16	96372872	missense	probably benign	0.07
R5957:Igsf5	UTSW	16	96364049	missense	probably benign	0.10
R6199:Igsf5	UTSW	16	96421739	missense	possibly damaging	0.66
R6298:Igsf5	UTSW	16	96396448	missense	possibly damaging	0.93
R7164:Igsf5	UTSW	16	96372848	missense	possibly damaging	0.85
R7197:Igsf5	UTSW	16	96403346	missense	probably damaging	1.00
R8213:Igsf5	UTSW	16	96372988	missense	probably damaging	1.00
R8353:Igsf5	UTSW	16	96421796	missense	probably benign	0.00
R8453:Igsf5	UTSW	16	96421796	missense	probably benign	0.00
R8823:Igsf5	UTSW	16	96421739	missense	possibly damaging	0.66
R9798:Igsf5	UTSW	16	96372875	missense	probably damaging	1.00
Z1176:Igsf5	UTSW	16	96391023	missense	probably damaging	1.00
Z1177:Igsf5	UTSW	16	96378333	missense	probably benign	0.06

Posted On

2016-08-02