Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Igsf8'

189545

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

039722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172139934-172147410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 172146504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 564 (G564W)

Ref Sequence

ENSEMBL: ENSMUSP00000083076 (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 damaging
Transcript: ENSMUST00000039506
AA Change: G564W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041232
Gene: ENSMUSG00000038034
AA Change: G564W

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 damaging
Transcript: ENSMUST00000085912
AA Change: G564W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083076
Gene: ENSMUSG00000038034
AA Change: G564W

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 damaging
Transcript: ENSMUST00000139528
AA Change: G501W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034
AA Change: G501W

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 damaging
Transcript: ENSMUST00000195659
AA Change: G60W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141313
Gene: ENSMUSG00000038034
AA Change: G60W

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

unknown
Transcript: ENSMUST00000194505
AA Change: G173W

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: 96.8%
20x: 93.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,769,827 (GRCm39)	K896R	probably benign	Het
Adcy9	A	T	16: 4,115,426 (GRCm39)		probably null	Het
Adgre1	T	C	17: 57,756,921 (GRCm39)	F726S	probably benign	Het
Ahctf1	A	T	1: 179,595,948 (GRCm39)	S148T	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,913,741 (GRCm39)	A289D	probably benign	Het
Amotl1	T	C	9: 14,504,518 (GRCm39)	Y230C	probably damaging	Het
Armc6	A	T	8: 70,682,187 (GRCm39)	S65R	probably benign	Het
Atad2b	T	A	12: 5,084,575 (GRCm39)	Y1440*	probably null	Het
Atf6b	T	A	17: 34,869,276 (GRCm39)	D164E	probably damaging	Het
B4galt6	C	T	18: 20,839,553 (GRCm39)	S127N	probably benign	Het
Bcl11a	A	T	11: 24,113,167 (GRCm39)	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,114,406 (GRCm39)	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,600,182 (GRCm39)	Y228*	probably null	Het
Cav2	A	G	6: 17,281,421 (GRCm39)	H21R	probably benign	Het
Celsr2	T	A	3: 108,314,620 (GRCm39)	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,079,699 (GRCm39)		probably null	Het
Cysltr2	T	C	14: 73,267,470 (GRCm39)	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,855,984 (GRCm39)	M363K	possibly damaging	Het
Eml5	C	T	12: 98,797,194 (GRCm39)	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,713,915 (GRCm39)	T425A	probably damaging	Het
Ephx2	T	A	14: 66,324,475 (GRCm39)	K373*	probably null	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,750,862 (GRCm39)	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,215,682 (GRCm39)	S443G	probably damaging	Het
Fdft1	T	C	14: 63,394,138 (GRCm39)	E191G	probably benign	Het
Fgd2	A	G	17: 29,582,696 (GRCm39)	E26G	probably benign	Het
Gabra4	T	C	5: 71,790,885 (GRCm39)		probably null	Het
Gc	A	G	5: 89,589,059 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,439,506 (GRCm39)	D1361E	probably benign	Het
Hid1	A	G	11: 115,251,183 (GRCm39)	F118L	probably damaging	Het
Il12rb2	A	G	6: 67,313,744 (GRCm39)	V4A	probably benign	Het
Irak3	T	C	10: 119,982,457 (GRCm39)	E335G	probably damaging	Het
Itgb8	T	G	12: 119,134,555 (GRCm39)	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,595,567 (GRCm39)	Y88N	probably damaging	Het
Klk1b5	T	C	7: 43,869,969 (GRCm39)	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,131,527 (GRCm39)	I135N	probably damaging	Het
Lrp2	G	T	2: 69,333,873 (GRCm39)	T1456K	probably benign	Het
Mrgprd	C	A	7: 144,875,454 (GRCm39)	Y108*	probably null	Het
Muc6	C	T	7: 141,234,265 (GRCm39)	G742D	probably damaging	Het
Nalcn	T	A	14: 123,522,666 (GRCm39)	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,280,231 (GRCm39)	Y126C	probably damaging	Het
Or14j1	T	C	17: 38,146,495 (GRCm39)	S202P	possibly damaging	Het
Or1ak2	A	G	2: 36,827,989 (GRCm39)	N286S	probably damaging	Het
Or7d11	A	T	9: 19,966,422 (GRCm39)	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,322,643 (GRCm39)		probably benign	Het
Pappa2	A	G	1: 158,784,968 (GRCm39)	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,408,688 (GRCm39)	G176D	probably damaging	Het
Pramel17	T	A	4: 101,694,376 (GRCm39)	K169I	possibly damaging	Het
Ptpra	T	C	2: 130,345,412 (GRCm39)	F5L	probably benign	Het
Qrfprl	A	G	6: 65,358,591 (GRCm39)	N105S	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,552 (GRCm39)	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Senp2	T	A	16: 21,845,416 (GRCm39)	Y217N	probably damaging	Het
Sned1	C	T	1: 93,211,094 (GRCm39)	R1061C	probably damaging	Het
Spag16	C	T	1: 70,500,277 (GRCm39)	T535I	probably benign	Het
Supt20	T	A	3: 54,619,583 (GRCm39)	L355*	probably null	Het
Tmem132b	A	G	5: 125,864,678 (GRCm39)	H928R	possibly damaging	Het
Tpo	A	T	12: 30,148,245 (GRCm39)	L552H	probably damaging	Het
Tsfm	A	T	10: 126,864,324 (GRCm39)	N130K	probably damaging	Het
Usp48	T	A	4: 137,383,418 (GRCm39)		probably null	Het
Vsig10	A	G	5: 117,490,825 (GRCm39)	D544G	probably benign	Het
Vsig10l	C	T	7: 43,114,792 (GRCm39)	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,336,422 (GRCm39)	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,576,111 (GRCm39)	D60V	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
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
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'- GGCCTCCCTGCTATGCAACATATC -3'
(R):5'- AGTACCACGGTCTCTGACACTCTC -3'

Sequencing Primer
(F):5'- TGCTATGCAACATATCTGTGC -3'
(R):5'- tccacccccaccaccac -3'

Posted On

2014-05-14