Mutagenetix > Incidental Mutation

Incidental Mutation 'R0613:Igsf8'

54859

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

038802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0613 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172139934-172147410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 172145156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 224 (M224K)

Ref Sequence

ENSEMBL: ENSMUSP00000083076 (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: M224K

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

SMART Domains

Protein: ENSMUSP00000041232
Gene: ENSMUSG00000038034
AA Change: M224K

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: M224K

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

SMART Domains

Protein: ENSMUSP00000083076
Gene: ENSMUSG00000038034
AA Change: M224K

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: M161K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034
AA Change: M161K

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

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: ENSMUST00000194505

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: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	T	8: 106,427,200 (GRCm39)		probably null	Het
Adcy9	A	G	16: 4,237,403 (GRCm39)	S3P	probably damaging	Het
Adgrl4	T	C	3: 151,248,859 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,004 (GRCm39)	E700G	probably benign	Het
Ahctf1	A	G	1: 179,596,979 (GRCm39)	S56P	probably damaging	Het
Atp12a	T	A	14: 56,611,978 (GRCm39)	I384N	probably damaging	Het
Brca1	A	T	11: 101,399,036 (GRCm39)	S1519T	probably benign	Het
Ccl25	T	C	8: 4,399,850 (GRCm39)	V94A	probably benign	Het
Cep170	T	C	1: 176,602,246 (GRCm39)	T287A	probably benign	Het
Ces1a	A	G	8: 93,752,209 (GRCm39)	S383P	probably benign	Het
Cntnap3	A	T	13: 64,906,228 (GRCm39)	F793I	probably damaging	Het
Ctsm	T	C	13: 61,687,496 (GRCm39)	R89G	probably damaging	Het
Cyp2j12	T	G	4: 95,990,316 (GRCm39)	T417P	probably damaging	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Edn2	T	A	4: 120,019,061 (GRCm39)		probably null	Het
Emc1	T	A	4: 139,102,383 (GRCm39)		probably benign	Het
Entrep1	T	A	19: 23,963,853 (GRCm39)	N239Y	probably damaging	Het
Fras1	T	C	5: 96,848,347 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,824,139 (GRCm39)	D6624V	probably damaging	Het
Gpr107	A	G	2: 31,068,297 (GRCm39)	Y253C	probably damaging	Het
Gpr108	A	G	17: 57,545,174 (GRCm39)		probably benign	Het
Grik1	A	G	16: 87,848,221 (GRCm39)		probably null	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Gucy2c	A	T	6: 136,737,721 (GRCm39)	N293K	probably damaging	Het
Hps6	C	A	19: 45,992,260 (GRCm39)	P66T	probably benign	Het
Hspa9	A	T	18: 35,081,033 (GRCm39)	V216E	probably damaging	Het
Igsf9b	T	C	9: 27,238,216 (GRCm39)	V569A	probably damaging	Het
Itgb4	A	T	11: 115,884,168 (GRCm39)	I952F	probably damaging	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Khdrbs2	A	G	1: 32,696,603 (GRCm39)	H344R	possibly damaging	Het
Kmo	C	A	1: 175,465,458 (GRCm39)	R71S	probably damaging	Het
Lrrc31	A	G	3: 30,739,184 (GRCm39)		probably benign	Het
Map1b	T	A	13: 99,578,149 (GRCm39)	D168V	probably damaging	Het
Mfsd6	T	C	1: 52,697,855 (GRCm39)		probably benign	Het
Mgst1	G	A	6: 138,133,243 (GRCm39)	G186D	probably damaging	Het
Mrc1	C	T	2: 14,299,630 (GRCm39)	A740V	probably damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mtor	T	C	4: 148,610,503 (GRCm39)	Y1605H	possibly damaging	Het
Ncoa4	T	A	14: 31,898,509 (GRCm39)	L443Q	probably damaging	Het
Nelfa	G	A	5: 34,060,807 (GRCm39)		probably benign	Het
Nepn	T	A	10: 52,277,353 (GRCm39)	L363Q	probably damaging	Het
Nfat5	A	G	8: 108,092,927 (GRCm39)	T630A	possibly damaging	Het
Nipal4	A	T	11: 46,041,211 (GRCm39)	V328E	probably benign	Het
Or11h4b	T	A	14: 50,918,861 (GRCm39)	I77F	probably benign	Het
Or2y1e	T	A	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or4c122	A	T	2: 89,079,469 (GRCm39)	C178S	probably damaging	Het
Or4d2b	A	T	11: 87,780,053 (GRCm39)	V223E	possibly damaging	Het
Or6c76	T	A	10: 129,612,131 (GRCm39)	M116K	probably damaging	Het
Or8d2	T	A	9: 38,759,909 (GRCm39)	C166*	probably null	Het
Otogl	A	T	10: 107,652,931 (GRCm39)	N1140K	probably damaging	Het
Ppip5k2	A	C	1: 97,680,465 (GRCm39)	Y236*	probably null	Het
Prelid1	C	T	13: 55,472,156 (GRCm39)	R111*	probably null	Het
Prpf8	T	C	11: 75,394,270 (GRCm39)	L1771P	probably damaging	Het
Ptprb	A	T	10: 116,138,230 (GRCm39)	Y378F	possibly damaging	Het
Ptprb	A	G	10: 116,138,283 (GRCm39)	T396A	possibly damaging	Het
Rab3il1	T	C	19: 10,005,728 (GRCm39)	L174P	probably damaging	Het
Rab4a	T	C	8: 124,550,574 (GRCm39)	V18A	possibly damaging	Het
Scn3a	T	A	2: 65,302,628 (GRCm39)	M1273L	possibly damaging	Het
Sdhc	A	T	1: 170,957,413 (GRCm39)	V156E	probably benign	Het
Slco3a1	T	C	7: 73,996,382 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,924,371 (GRCm39)	T343A	probably benign	Het
Syt11	A	G	3: 88,669,776 (GRCm39)	C39R	probably damaging	Het
Tll2	G	T	19: 41,093,429 (GRCm39)	D462E	probably damaging	Het
Tmem132e	T	A	11: 82,329,164 (GRCm39)	V481D	probably damaging	Het
Tmem161b	C	T	13: 84,399,439 (GRCm39)	L17F	probably damaging	Het
Vmn2r105	T	A	17: 20,428,578 (GRCm39)	I833F	probably damaging	Het
Vstm2a	A	T	11: 16,213,140 (GRCm39)	N175I	probably damaging	Het
Xpnpep1	G	T	19: 52,994,784 (GRCm39)	D238E	probably damaging	Het
Zfp112	G	A	7: 23,826,453 (GRCm39)	G807D	probably benign	Het
Zfp518b	A	T	5: 38,830,946 (GRCm39)	V353E	probably damaging	Het
Zfp69	T	C	4: 120,791,544 (GRCm39)	E39G	probably benign	Het
Zfp865	A	G	7: 5,032,090 (GRCm39)	H25R	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
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'- TGCTCCAAGCCCTCTCTCACTAAAG -3'
(R):5'- AGAGTCTGCACATCAACATGAGCC -3'

Sequencing Primer
(F):5'- AGTTCTTCCAGATGAGCTGC -3'
(R):5'- TCAACATGAGCCAGGACTG -3'

Posted On

2013-07-11