Mutagenetix > Incidental Mutation

Incidental Mutation 'R4674:Igsf8'

348668

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

041929-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4674 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172139934-172147410 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 172146479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 51 (W51*)

Ref Sequence

ENSEMBL: ENSMUSP00000141313 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000039506
AA Change: W555*

SMART Domains

Protein: ENSMUSP00000041232
Gene: ENSMUSG00000038034
AA Change: W555*

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 null
Transcript: ENSMUST00000085912
AA Change: W555*

SMART Domains

Protein: ENSMUSP00000083076
Gene: ENSMUSG00000038034
AA Change: W555*

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 null
Transcript: ENSMUST00000139528
AA Change: W492*

SMART Domains

Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034
AA Change: W492*

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 null
Transcript: ENSMUST00000194505
AA Change: W164*

Predicted Effect

probably null
Transcript: ENSMUST00000195659
AA Change: W51*

SMART Domains

Protein: ENSMUSP00000141313
Gene: ENSMUSG00000038034
AA Change: W51*

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,860,615 (GRCm39)	I112T	probably benign	Het
Acvr1b	T	C	15: 101,100,939 (GRCm39)	I367T	possibly damaging	Het
Akr1b8	G	A	6: 34,333,359 (GRCm39)		probably null	Het
Ash1l	T	C	3: 88,979,783 (GRCm39)	V2769A	possibly damaging	Het
Asxl3	A	T	18: 22,650,795 (GRCm39)	D928V	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Ccdc82	A	T	9: 13,252,260 (GRCm39)	H184L	probably benign	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Clec1b	C	A	6: 129,377,097 (GRCm39)	L47I	probably damaging	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Crbn	T	A	6: 106,767,932 (GRCm39)	Q173L	possibly damaging	Het
Cspg4	T	C	9: 56,805,489 (GRCm39)	V2100A	probably damaging	Het
Cyp46a1	T	C	12: 108,324,345 (GRCm39)	L374P	probably damaging	Het
Dhx16	T	A	17: 36,196,831 (GRCm39)	V607E	probably damaging	Het
Dido1	A	G	2: 180,329,352 (GRCm39)	S357P	probably damaging	Het
Dnah6	T	A	6: 73,169,405 (GRCm39)	I399F	probably benign	Het
Dock10	T	C	1: 80,584,337 (GRCm39)	E123G	possibly damaging	Het
Dstyk	A	G	1: 132,391,128 (GRCm39)	D843G	probably benign	Het
Efcab12	C	A	6: 115,800,610 (GRCm39)	V138F	probably damaging	Het
Egf	A	G	3: 129,511,689 (GRCm39)	F493L	probably damaging	Het
Ephx1	A	G	1: 180,822,256 (GRCm39)	F220S	probably damaging	Het
Exoc6	T	C	19: 37,597,530 (GRCm39)	F644L	probably damaging	Het
F13b	A	G	1: 139,429,542 (GRCm39)	Y20C	unknown	Het
Fam184b	T	A	5: 45,740,230 (GRCm39)	K319*	probably null	Het
Flrt2	T	A	12: 95,747,462 (GRCm39)	L600*	probably null	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gli2	T	C	1: 118,763,759 (GRCm39)	E1464G	probably damaging	Het
Hdac9	A	G	12: 34,423,959 (GRCm39)	V501A	possibly damaging	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Hirip3	G	A	7: 126,463,834 (GRCm39)		probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Krt73	T	C	15: 101,710,510 (GRCm39)	N75D	probably benign	Het
Macf1	T	A	4: 123,366,190 (GRCm39)	Y1292F	probably benign	Het
Macroh2a1	A	C	13: 56,230,997 (GRCm39)	C297G	possibly damaging	Het
Mapk14	A	G	17: 28,963,996 (GRCm39)		probably null	Het
Mgat5	T	A	1: 127,318,495 (GRCm39)	V330D	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,580,682 (GRCm39)	F188L	probably damaging	Het
Ncoa3	T	C	2: 165,901,731 (GRCm39)	S1035P	probably benign	Het
Ndn	T	A	7: 61,998,570 (GRCm39)	W139R	probably damaging	Het
Nes	T	C	3: 87,879,102 (GRCm39)	V198A	possibly damaging	Het
Or4c107	G	T	2: 88,789,216 (GRCm39)	M135I	probably damaging	Het
Or4c35	A	G	2: 89,808,250 (GRCm39)	I43V	possibly damaging	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5b111	T	A	19: 13,291,178 (GRCm39)	H157L	probably benign	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Pde1a	TCC	TC	2: 79,728,525 (GRCm39)		probably benign	Het
Pipox	T	G	11: 77,784,596 (GRCm39)	Q4P	probably benign	Het
Pla2g4c	C	T	7: 13,077,439 (GRCm39)	T327I	probably null	Het
Plppr1	C	T	4: 49,323,384 (GRCm39)	R225W	probably damaging	Het
Pnpla6	T	A	8: 3,571,412 (GRCm39)	V145D	probably damaging	Het
Pnpla7	T	C	2: 24,942,329 (GRCm39)	Y83H	probably damaging	Het
Rif1	T	A	2: 51,996,954 (GRCm39)	L970Q	probably null	Het
Rimklb	C	A	6: 122,433,242 (GRCm39)	E303*	probably null	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rttn	T	A	18: 89,029,135 (GRCm39)		probably null	Het
Sf3b3	G	A	8: 111,571,137 (GRCm39)	R10W	probably damaging	Het
Skint4	G	A	4: 111,975,430 (GRCm39)	C130Y	probably damaging	Het
Snap91	A	G	9: 86,674,070 (GRCm39)	S593P	possibly damaging	Het
Ssb	A	G	2: 69,699,194 (GRCm39)	Q209R	probably benign	Het
Stap1	A	T	5: 86,229,044 (GRCm39)	I71L	probably benign	Het
Syna	C	A	5: 134,587,209 (GRCm39)	R580L	probably damaging	Het
Tacc2	T	A	7: 130,226,591 (GRCm39)	M1111K	possibly damaging	Het
Tanc2	T	C	11: 105,758,306 (GRCm39)	L689P	probably damaging	Het
Tasor2	T	C	13: 3,623,686 (GRCm39)	E1406G	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tdrd5	A	C	1: 156,105,005 (GRCm39)	C463W	probably damaging	Het
Tet1	A	G	10: 62,674,627 (GRCm39)	F1150L	probably damaging	Het
Tia1	T	A	6: 86,397,382 (GRCm39)	F118L	probably damaging	Het
Trav3-1	A	T	14: 52,818,460 (GRCm39)	T45S	possibly damaging	Het
Uaca	A	T	9: 60,761,711 (GRCm39)	Y235F	possibly damaging	Het
Ube4b	T	C	4: 149,415,827 (GRCm39)	N44S	possibly damaging	Het
Vmn2r93	T	A	17: 18,525,255 (GRCm39)	H304Q	probably benign	Het
Wdr18	A	G	10: 79,801,069 (GRCm39)	I161V	probably benign	Het
Zfp112	A	G	7: 23,826,399 (GRCm39)	H789R	probably damaging	Het
Zfp873	A	G	10: 81,895,814 (GRCm39)	T182A	possibly damaging	Het
Zscan2	T	A	7: 80,525,150 (GRCm39)	S290R	probably damaging	Het
Zup1	A	T	10: 33,824,980 (GRCm39)	D167E	possibly 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
R0494:Igsf8	UTSW	1	172,146,265 (GRCm39)	missense	probably benign	0.06
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
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'- CTATGCAACATATCTGTGCGG -3'
(R):5'- TGGGACCCTTCATGCAAAG -3'

Sequencing Primer
(F):5'- AACATATCTGTGCGGGGCGG -3'
(R):5'- CCTTCATGCAAAGGGATGTG -3'

Posted On

2015-10-08