Mutagenetix > Incidental Mutations

Incidental Mutation 'R1687:Sema4b'

189421

Institutional Source

Beutler Lab

Gene Symbol

Sema4b

Ensembl Gene

ENSMUSG00000030539

Gene Name

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B

Synonyms

Semac, SemC

MMRRC Submission

039720-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80186841-80226527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80219262 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 361 (Y361H)

Ref Sequence

ENSEMBL: ENSMUSP00000145622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032754] [ENSMUST00000205822]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032754
AA Change: Y361H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: Y361H

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Sema	57	494	8.07e-177	SMART
PSI	512	582	4.7e-9	SMART
low complexity region	626	639	N/A	INTRINSIC
transmembrane domain	701	723	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107383

SMART Domains

Protein: ENSMUSP00000103006
Gene: ENSMUSG00000030539

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Sema	57	494	8.07e-177	SMART
PSI	512	550	2.68e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000205822
AA Change: Y361H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit normal cerebellar morphology. Mice homozygous for a knock-out allele exhibit enhanced memory response by way of increased IgE and IgG1 serum levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,888	F931I	probably benign	Het
Alox15	T	A	11: 70,349,918	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,537	V268D	probably benign	Het
Armc9	A	G	1: 86,156,955	M1V	probably null	Het
BB287469	A	G	12: 87,819,718	D133G	unknown	Het
Brca1	C	T	11: 101,489,840	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,736,759	V138A	probably benign	Het
Camsap1	A	G	2: 25,939,615	F699S	probably damaging	Het
Ccm2	A	G	11: 6,585,118	R67G	probably damaging	Het
Cdk16	G	A	X: 20,696,659		probably null	Het
Cep85	T	C	4: 134,148,013	H546R	probably benign	Het
Cfap54	T	C	10: 92,932,640	D207G	probably damaging	Het
Cldn9	G	T	17: 23,683,076	R192S	probably benign	Het
Crybb3	A	G	5: 113,079,767	S63P	probably damaging	Het
Cux1	A	G	5: 136,312,669	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407		probably benign	Het
Dnah3	A	T	7: 120,045,786		probably null	Het
Eml6	G	A	11: 29,833,187	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,617,366	V610A	probably benign	Het
Fam234a	T	C	17: 26,215,308	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,227,106	V154I	probably benign	Het
Frem2	A	T	3: 53,653,952	W1045R	probably benign	Het
Fubp1	A	G	3: 152,228,201		probably benign	Het
Gja3	T	A	14: 57,036,876	N13I	probably damaging	Het
Gpr20	C	A	15: 73,695,902	V213L	probably benign	Het
Grk5	T	C	19: 61,076,783	I295T	probably damaging	Het
Gucy1b1	A	G	3: 82,038,042	F430L	probably damaging	Het
Gzmk	T	A	13: 113,173,928	I119L	probably benign	Het
Hadh	T	C	3: 131,245,249	I153V	probably benign	Het
Hsfy2	T	C	1: 56,636,853	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,775,824	I560T	probably benign	Het
Igdcc4	T	C	9: 65,131,663	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,632,872	D216G	probably benign	Het
Klc2	G	A	19: 5,111,654	P303S	probably damaging	Het
Lama5	C	T	2: 180,194,066	V1192I	probably benign	Het
Mon2	A	G	10: 123,026,124	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,672,478	L96Q	probably damaging	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,520,585	I726T	probably damaging	Het
Ndnf	A	T	6: 65,703,423	T229S	probably benign	Het
Npas3	A	T	12: 54,048,875		probably null	Het
Nrap	C	T	19: 56,355,529	E729K	probably damaging	Het
Nsun2	T	A	13: 69,627,597	F387I	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 164,044,306	T452M	probably benign	Het
Pcdh10	T	C	3: 45,380,015	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,700,019	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,884,704		probably benign	Het
Pkp2	T	C	16: 16,268,709		probably null	Het
Ppard	A	G	17: 28,297,180	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,290,533	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,270,279	T287A	probably damaging	Het
Slfn9	A	T	11: 82,982,157	I640N	probably damaging	Het
Smurf2	C	A	11: 106,836,070		probably null	Het
Spag5	T	C	11: 78,304,929	V354A	probably benign	Het
Sptb	T	C	12: 76,603,699	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,981,250	L22F	probably benign	Het
Sugp2	T	C	8: 70,242,634	S86P	probably damaging	Het
Tnk1	T	C	11: 69,856,473	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,939,626	I541F	possibly damaging	Het
Trim36	G	T	18: 46,188,657	H108N	possibly damaging	Het
Ttn	T	C	2: 76,870,907		probably benign	Het
Usp28	T	A	9: 49,024,017	S89R	probably benign	Het
Vmn2r121	T	C	X: 124,132,791	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,940,818	Y630F	probably benign	Het
Washc2	T	A	6: 116,256,712	S900T	probably benign	Het
Wdr72	A	G	9: 74,210,199	N731S	probably benign	Het
Xrra1	T	A	7: 99,876,244	F123L	probably damaging	Het
Zfp648	A	G	1: 154,204,242	D49G	probably benign	Het

Other mutations in Sema4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Sema4b	APN	7	80215696	missense	probably damaging	1.00
IGL02584:Sema4b	APN	7	80224988	missense	probably benign
IGL02657:Sema4b	APN	7	80217041	missense	probably damaging	1.00
false_flag	UTSW	7	80198654	start codon destroyed	probably null
R0114:Sema4b	UTSW	7	80219078	splice site	probably benign
R0480:Sema4b	UTSW	7	80220206	missense	probably damaging	1.00
R1184:Sema4b	UTSW	7	80224640	missense	probably benign	0.27
R1545:Sema4b	UTSW	7	80219023	missense	probably benign	0.02
R1880:Sema4b	UTSW	7	80216792	missense	probably damaging	0.96
R1881:Sema4b	UTSW	7	80216792	missense	probably damaging	0.96
R2180:Sema4b	UTSW	7	80212835	missense	probably benign	0.28
R2352:Sema4b	UTSW	7	80220879	missense	probably damaging	0.99
R2424:Sema4b	UTSW	7	80219275	missense	probably damaging	1.00
R3913:Sema4b	UTSW	7	80220474	missense	probably benign
R4353:Sema4b	UTSW	7	80215651	missense	probably damaging	1.00
R4757:Sema4b	UTSW	7	80216829	missense	probably damaging	1.00
R4921:Sema4b	UTSW	7	80198756	missense	possibly damaging	0.77
R5004:Sema4b	UTSW	7	80216345	missense	probably benign	0.13
R5399:Sema4b	UTSW	7	80224886	missense	probably benign
R5599:Sema4b	UTSW	7	80213291	missense	probably benign	0.40
R5820:Sema4b	UTSW	7	80224958	missense	probably damaging	0.99
R5840:Sema4b	UTSW	7	80218949	missense	probably damaging	1.00
R5901:Sema4b	UTSW	7	80224967	missense	possibly damaging	0.49
R6600:Sema4b	UTSW	7	80212928	missense	probably benign	0.42
R6749:Sema4b	UTSW	7	80220201	missense	possibly damaging	0.56
R6992:Sema4b	UTSW	7	80220152	missense	probably damaging	0.97
R7175:Sema4b	UTSW	7	80198654	start codon destroyed	probably null
R7660:Sema4b	UTSW	7	80220247	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTTTACCTCCCAGTGGTGAGATGC -3'
(R):5'- CCTGCTGCCTTTGAGACAGACAAC -3'

Sequencing Primer
(F):5'- TTAGCTGGGGACAGGAGG -3'
(R):5'- AAGCCAGGGCTTATTACGC -3'

Posted On

2014-05-14