Mutagenetix > Incidental Mutation

Incidental Mutation 'R0494:Igsf8'

42608

Institutional Source

Beutler Lab

Gene Symbol

Igsf8

Ensembl Gene

ENSMUSG00000038034

Gene Name

immunoglobulin superfamily, member 8

Synonyms

KCT-4, PGRL, PG regulatory-like protein, EWI-2, ESTM34

MMRRC Submission

038691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0494 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

172139934-172147410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172146265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 421 (E421G)

Ref Sequence

ENSEMBL: ENSMUSP00000134280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039506] [ENSMUST00000062387] [ENSMUST00000085912] [ENSMUST00000128508] [ENSMUST00000139528] [ENSMUST00000194204] [ENSMUST00000195659]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039506
AA Change: E484G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000041232
Gene: ENSMUSG00000038034
AA Change: E484G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	32	147	1.38e-6	SMART
low complexity region	155	166	N/A	INTRINSIC
IG	169	285	2.3e-3	SMART
IG	309	433	9.49e-5	SMART
IG	445	571	3.59e-5	SMART
transmembrane domain	578	600	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062387

SMART Domains

Protein: ENSMUSP00000060110
Gene: ENSMUSG00000038026

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
Pfam:IRK	25	350	3.1e-142	PFAM
low complexity region	362	377	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085912
AA Change: E484G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000083076
Gene: ENSMUSG00000038034
AA Change: E484G

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
IG	32	147	1.38e-6	SMART
low complexity region	155	166	N/A	INTRINSIC
IG	169	285	2.3e-3	SMART
IG	309	433	9.49e-5	SMART
IG	445	571	3.59e-5	SMART
transmembrane domain	578	600	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128508

SMART Domains

Protein: ENSMUSP00000122611
Gene: ENSMUSG00000038034

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
IG	32	147	1.38e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139528
AA Change: E421G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034
AA Change: E421G

Domain	Start	End	E-Value	Type
IG_like	19	84	3.66e1	SMART
low complexity region	92	103	N/A	INTRINSIC
IG	106	222	2.3e-3	SMART
IG	246	370	9.49e-5	SMART
IG	382	508	3.59e-5	SMART
transmembrane domain	515	537	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192957

Predicted Effect

probably benign
Transcript: ENSMUST00000194505
AA Change: E93G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000194204

SMART Domains

Protein: ENSMUSP00000141633
Gene: ENSMUSG00000038026

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
Pfam:IRK	25	361	7.4e-165	PFAM
low complexity region	362	377	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195659

SMART Domains

Protein: ENSMUSP00000141313
Gene: ENSMUSG00000038034

Domain	Start	End	E-Value	Type
Blast:IG	1	67	2e-42	BLAST
SCOP:d1nkr_1	6	64	1e-3	SMART
transmembrane domain	74	96	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (109/112)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,402,339 (GRCm39)	I116V	probably benign	Het
Abhd18	T	C	3: 40,871,123 (GRCm39)	F94S	probably damaging	Het
Adam28	T	A	14: 68,868,241 (GRCm39)		probably benign	Het
Afg2a	G	C	3: 37,486,312 (GRCm39)	D345H	possibly damaging	Het
Amn1	A	T	6: 149,086,634 (GRCm39)		probably benign	Het
Arhgap32	T	C	9: 32,170,199 (GRCm39)	V993A	probably damaging	Het
Arhgap33	A	T	7: 30,223,921 (GRCm39)	S703T	probably damaging	Het
Arhgef1	T	C	7: 24,618,785 (GRCm39)		probably benign	Het
Atg2a	A	G	19: 6,303,407 (GRCm39)	Y1083C	probably damaging	Het
Atp2a3	T	C	11: 72,872,731 (GRCm39)	F760L	probably damaging	Het
B9d1	A	G	11: 61,403,271 (GRCm39)		probably benign	Het
Batf	C	T	12: 85,733,636 (GRCm39)		probably benign	Het
BC051019	T	A	7: 109,317,182 (GRCm39)	Y170F	probably benign	Het
Bphl	T	C	13: 34,221,754 (GRCm39)	*37Q	probably null	Het
Cab39l	T	C	14: 59,737,008 (GRCm39)	S43P	probably damaging	Het
Cad	A	G	5: 31,234,856 (GRCm39)		probably benign	Het
Cct4	T	G	11: 22,946,014 (GRCm39)	S119A	probably benign	Het
Cd163	G	A	6: 124,288,408 (GRCm39)	V280M	probably damaging	Het
Cd86	A	G	16: 36,438,999 (GRCm39)		probably benign	Het
Cdh23	G	A	10: 60,152,375 (GRCm39)		probably benign	Het
Cdhr5	A	G	7: 140,852,431 (GRCm39)	F145S	probably damaging	Het
Cdt1	T	C	8: 123,298,799 (GRCm39)	S479P	possibly damaging	Het
Ces2g	T	C	8: 105,693,199 (GRCm39)	V372A	probably benign	Het
Chrna3	T	C	9: 54,929,562 (GRCm39)	D92G	probably damaging	Het
Cndp1	A	G	18: 84,637,658 (GRCm39)	S359P	probably benign	Het
Cops4	A	G	5: 100,676,528 (GRCm39)	Q93R	probably damaging	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Dmp1	A	T	5: 104,360,074 (GRCm39)	D250V	probably damaging	Het
Dnajb2	C	T	1: 75,216,278 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,899,996 (GRCm39)	T113A	possibly damaging	Het
Egln3	T	A	12: 54,250,107 (GRCm39)	I81F	probably benign	Het
Elapor2	G	A	5: 9,470,723 (GRCm39)		probably null	Het
Elovl5	T	C	9: 77,868,199 (GRCm39)	V37A	probably benign	Het
Esco1	A	T	18: 10,594,940 (GRCm39)	N115K	probably benign	Het
Fat1	A	T	8: 45,403,579 (GRCm39)	N110I	probably damaging	Het
Fezf1	T	A	6: 23,246,054 (GRCm39)	K370N	probably damaging	Het
Galnt18	T	A	7: 111,153,771 (GRCm39)	K284N	probably damaging	Het
Glt8d1	C	A	14: 30,733,580 (GRCm39)	T355K	possibly damaging	Het
Gm17455	G	A	10: 60,239,014 (GRCm39)	R93H	possibly damaging	Het
Gng8	T	A	7: 16,629,213 (GRCm39)	D46E	probably benign	Het
Gpx4	T	C	10: 79,892,011 (GRCm39)		probably benign	Het
Grk2	A	T	19: 4,341,347 (GRCm39)	N189K	probably damaging	Het
Grm5	T	C	7: 87,779,989 (GRCm39)	V1143A	probably benign	Het
Hibch	A	G	1: 52,942,055 (GRCm39)	E237G	possibly damaging	Het
Hipk2	C	T	6: 38,706,924 (GRCm39)	A682T	probably benign	Het
Hmcn1	G	T	1: 150,608,543 (GRCm39)		probably benign	Het
Htt	A	G	5: 34,979,188 (GRCm39)	D857G	possibly damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Kif26a	T	A	12: 112,145,905 (GRCm39)		probably null	Het
Klhl26	T	C	8: 70,904,251 (GRCm39)	Y519C	probably damaging	Het
Lamc1	A	C	1: 153,122,682 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,936,162 (GRCm39)	S1455T	possibly damaging	Het
Mitf	G	A	6: 97,971,390 (GRCm39)	G186S	probably benign	Het
Ms4a15	G	A	19: 10,958,722 (GRCm39)		probably benign	Het
Myo5b	A	G	18: 74,787,038 (GRCm39)	E481G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nbeal2	C	A	9: 110,456,255 (GRCm39)	V1686L	probably damaging	Het
Nedd4l	T	G	18: 65,306,092 (GRCm39)	S335A	possibly damaging	Het
Nos1	A	T	5: 118,043,539 (GRCm39)	N605Y	probably damaging	Het
Nyx	C	A	X: 13,353,508 (GRCm39)	T454K	probably benign	Het
Or52n2	A	G	7: 104,542,478 (GRCm39)	L119P	probably damaging	Het
Or8g55	T	A	9: 39,784,698 (GRCm39)	N42K	probably damaging	Het
Pcdhb12	T	A	18: 37,571,148 (GRCm39)	F765I	probably benign	Het
Pex3	C	T	10: 13,403,532 (GRCm39)	G330R	probably damaging	Het
Pfkfb1	T	C	X: 149,417,609 (GRCm39)	Y339H	probably damaging	Het
Pias1	G	A	9: 62,794,593 (GRCm39)	Q26*	probably null	Het
Pik3cg	C	A	12: 32,254,545 (GRCm39)	V481L	possibly damaging	Het
Plcg2	C	T	8: 118,282,843 (GRCm39)	T108M	probably damaging	Het
Pon2	G	A	6: 5,267,059 (GRCm39)		probably benign	Het
Ppef2	A	T	5: 92,400,952 (GRCm39)		probably benign	Het
Pramel21	G	T	4: 143,342,726 (GRCm39)	V278F	probably benign	Het
Ptpn22	A	G	3: 103,767,771 (GRCm39)	K18E	probably damaging	Het
Pum2	C	T	12: 8,771,736 (GRCm39)	Q360*	probably null	Het
Rab10	A	C	12: 3,302,723 (GRCm39)		probably null	Het
Ranbp2	T	G	10: 58,303,254 (GRCm39)	S809A	possibly damaging	Het
Rbms2	A	G	10: 127,969,539 (GRCm39)	V348A	probably benign	Het
Rnf213	A	G	11: 119,316,838 (GRCm39)	E988G	possibly damaging	Het
Rnf213	A	T	11: 119,333,946 (GRCm39)	M3052L	probably damaging	Het
Rpl14	C	A	9: 120,403,428 (GRCm39)		probably benign	Het
Rplp0	A	G	5: 115,697,931 (GRCm39)	Y13C	possibly damaging	Het
Ryr1	A	G	7: 28,703,218 (GRCm39)		probably benign	Het
Sac3d1	T	C	19: 6,168,324 (GRCm39)	E98G	probably damaging	Het
Scn10a	T	A	9: 119,453,166 (GRCm39)	D1242V	probably damaging	Het
Scnn1b	T	C	7: 121,498,681 (GRCm39)	Y74H	probably damaging	Het
Serpinb3a	C	T	1: 106,975,212 (GRCm39)	W198*	probably null	Het
Sf3b4	C	A	3: 96,081,017 (GRCm39)	D108E	probably damaging	Het
Shprh	T	C	10: 11,032,935 (GRCm39)	V307A	probably damaging	Het
Slc2a2	A	G	3: 28,781,426 (GRCm39)	D458G	probably benign	Het
Strc	T	C	2: 121,210,014 (GRCm39)	D103G	probably damaging	Het
Synrg	T	C	11: 83,910,369 (GRCm39)	I923T	probably benign	Het
Tango6	G	T	8: 107,462,314 (GRCm39)		probably benign	Het
Tas2r106	A	G	6: 131,655,539 (GRCm39)	L104P	probably damaging	Het
Tat	C	T	8: 110,718,316 (GRCm39)	P67L	probably damaging	Het
Tln2	A	C	9: 67,262,479 (GRCm39)	S593A	probably benign	Het
Tmem94	A	G	11: 115,685,607 (GRCm39)		probably null	Het
Tppp3	G	A	8: 106,194,804 (GRCm39)	A109V	probably benign	Het
Trank1	T	C	9: 111,220,361 (GRCm39)	F2366S	probably benign	Het
Trpc5	T	A	X: 143,264,392 (GRCm39)	Y155F	probably damaging	Het
Trpv1	A	G	11: 73,151,268 (GRCm39)	T451A	probably benign	Het
Ttc9	C	A	12: 81,678,423 (GRCm39)	A82E	probably damaging	Het
Ttll11	T	A	2: 35,834,886 (GRCm39)	N180I	probably damaging	Het
Ttn	T	C	2: 76,566,743 (GRCm39)	N28050S	possibly damaging	Het
Vmn2r73	G	T	7: 85,522,140 (GRCm39)	H66Q	probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Wnt3	G	A	11: 103,703,141 (GRCm39)	C208Y	probably damaging	Het
Zfp521	C	A	18: 13,978,325 (GRCm39)	C696F	probably damaging	Het
Zfp521	T	C	18: 13,979,927 (GRCm39)	D162G	probably damaging	Het
Zfp869	A	T	8: 70,159,054 (GRCm39)	H506Q	probably damaging	Het

Other mutations in Igsf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Igsf8	APN	1	172,145,111 (GRCm39)	missense	possibly damaging	0.48
IGL02090:Igsf8	APN	1	172,140,156 (GRCm39)	intron	probably benign
IGL02523:Igsf8	APN	1	172,146,980 (GRCm39)	utr 3 prime	probably benign
IGL03092:Igsf8	APN	1	172,140,096 (GRCm39)	intron	probably benign
IGL03184:Igsf8	APN	1	172,146,199 (GRCm39)	missense	probably damaging	0.96
R0398:Igsf8	UTSW	1	172,145,066 (GRCm39)	missense	probably damaging	1.00
R0468:Igsf8	UTSW	1	172,146,363 (GRCm39)	missense	probably damaging	1.00
R0612:Igsf8	UTSW	1	172,146,974 (GRCm39)	makesense	probably null
R0613:Igsf8	UTSW	1	172,145,156 (GRCm39)	missense	probably benign	0.00
R0883:Igsf8	UTSW	1	172,143,826 (GRCm39)	missense	possibly damaging	0.67
R0941:Igsf8	UTSW	1	172,143,963 (GRCm39)	missense	probably damaging	1.00
R1689:Igsf8	UTSW	1	172,146,504 (GRCm39)	missense	probably damaging	0.99
R1706:Igsf8	UTSW	1	172,144,972 (GRCm39)	missense	probably damaging	1.00
R2050:Igsf8	UTSW	1	172,146,432 (GRCm39)	missense	probably damaging	1.00
R2182:Igsf8	UTSW	1	172,118,295 (GRCm39)	critical splice donor site	probably null
R3625:Igsf8	UTSW	1	172,145,336 (GRCm39)	missense	probably benign	0.18
R3833:Igsf8	UTSW	1	172,145,837 (GRCm39)	missense	probably benign	0.00
R4674:Igsf8	UTSW	1	172,146,479 (GRCm39)	nonsense	probably null
R4796:Igsf8	UTSW	1	172,143,889 (GRCm39)	missense	probably benign	0.07
R6768:Igsf8	UTSW	1	172,145,099 (GRCm39)	missense	probably damaging	1.00
R7519:Igsf8	UTSW	1	172,143,874 (GRCm39)	missense	probably benign	0.38
R9515:Igsf8	UTSW	1	172,146,525 (GRCm39)	missense
R9667:Igsf8	UTSW	1	172,145,319 (GRCm39)	missense	possibly damaging	0.95
Z1176:Igsf8	UTSW	1	172,145,921 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGGATGTTGAGCCCTTGACGG -3'
(R):5'- GGACCCTTCATGCAAAGGGATGTG -3'

Sequencing Primer
(F):5'- CTTGACGGGGTTCAGAACTTATAGAG -3'
(R):5'- GGCTGTCACTCACCATGC -3'

Posted On

2013-05-23