Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00477:Igsf5'

3938

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: 0.055) question?

Stock #

IGL00477

Quality Score

Status

Chromosome

Chromosomal Location

96361668-96525580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96391020 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 173 (E173G)

Ref Sequence

ENSEMBL: ENSMUSP00000079874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000163] [ENSMUST00000081093] [ENSMUST00000113794] [ENSMUST00000113795]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000163
AA Change: E273G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000000163
Gene: ENSMUSG00000000159
AA Change: E273G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	127	9.63e-6	SMART
IG	134	221	2.64e0	SMART
transmembrane domain	239	261	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081093
AA Change: E173G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079874
Gene: ENSMUSG00000000159
AA Change: E173G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113794
AA Change: E273G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109425
Gene: ENSMUSG00000000159
AA Change: E273G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	127	9.63e-6	SMART
IG	134	221	2.64e0	SMART
transmembrane domain	239	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113795
AA Change: E173G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
AA Change: E173G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139595

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411G06Rik	T	A	10: 51,756,771		noncoding transcript	Het
Arntl2	A	G	6: 146,827,329		probably benign	Het
Cntnap5b	A	G	1: 100,213,743	T575A	probably damaging	Het
Dapl1	T	C	2: 59,494,488	S28P	probably benign	Het
Dnmbp	T	A	19: 43,902,479	E283V	probably damaging	Het
Fastkd3	G	A	13: 68,584,528	V323I	possibly damaging	Het
Gtpbp2	G	T	17: 46,168,254	G581C	probably damaging	Het
Mat1a	T	C	14: 41,105,694		probably benign	Het
Mmp1a	T	A	9: 7,476,259	D452E	probably benign	Het
Ncapd2	A	T	6: 125,173,425	M879K	probably benign	Het
Plce1	A	T	19: 38,525,132	T292S	probably benign	Het
Qrsl1	G	T	10: 43,876,492	T445N	probably damaging	Het
Rad50	T	C	11: 53,686,311		probably benign	Het
Serpina1f	A	G	12: 103,691,869	M259T	probably benign	Het
Tmprss15	A	G	16: 79,021,413	V543A	probably damaging	Het
Usp34	C	T	11: 23,468,879	T3009I	probably damaging	Het
Usp7	A	T	16: 8,697,975	I661N	probably damaging	Het
Virma	T	G	4: 11,519,006	L751R	probably damaging	Het

Other mutations in Igsf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03289:Igsf5	APN	16	96525432	missense	possibly damaging	0.94
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

2012-04-20