Mutagenetix > Incidental Mutation

Incidental Mutation 'R5840:Sema4b'

450375

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

044060-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

R5840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80186841-80226527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80218949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 297 (C297R)

Ref Sequence

ENSEMBL: ENSMUSP00000145622 (fasta)

Gene Model

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

AlphaFold

Q62179

Predicted Effect

probably damaging
Transcript: ENSMUST00000032754
AA Change: C297R

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

SMART Domains

Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: C297R

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

noncoding transcript
Transcript: ENSMUST00000123023

Predicted Effect

probably damaging
Transcript: ENSMUST00000205822
AA Change: C297R

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

Meta Mutation Damage Score

0.7329

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.5%
20x: 88.1%

Validation Efficiency

99% (75/76)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,433,359	R113Q	probably benign	Het
Aip	G	A	19: 4,116,010	P147L	possibly damaging	Het
Anapc1	A	C	2: 128,607,037		probably benign	Het
Arhgap42	C	T	9: 9,046,517	V240I	possibly damaging	Het
Axdnd1	T	C	1: 156,348,958	E684G	probably damaging	Het
BC005624	G	A	2: 30,981,857	R2W	probably benign	Het
Cd177	T	G	7: 24,758,070	Q182P	probably damaging	Het
Cdca5	G	A	19: 6,090,369	E187K	possibly damaging	Het
Chmp1a	T	C	8: 123,208,100	Q39R	probably benign	Het
Dab2ip	A	G	2: 35,727,499	I1079V	probably damaging	Het
Dip2c	A	T	13: 9,506,676	E85D	possibly damaging	Het
Elmo2	A	T	2: 165,295,552	S497R	possibly damaging	Het
Ephb6	C	T	6: 41,615,573	A339V	possibly damaging	Het
Foxred1	T	C	9: 35,210,139	K38E	probably damaging	Het
Frem2	T	A	3: 53,647,921	T1732S	probably damaging	Het
Fto	A	G	8: 91,666,440		probably benign	Het
Gm17430	T	A	18: 9,726,528	Q48L	probably damaging	Het
Gng2	A	G	14: 19,875,814	I70T	probably damaging	Het
Gtf2a2	A	G	9: 70,015,293		probably benign	Het
Invs	A	G	4: 48,396,284	D263G	probably damaging	Het
Itga2b	C	T	11: 102,461,331	V475M	probably damaging	Het
Kansl1l	A	G	1: 66,770,215		probably benign	Het
Klhl25	T	C	7: 75,866,692	F449L	possibly damaging	Het
Lamb1	T	A	12: 31,266,756	C83S	probably damaging	Het
Loxl4	G	T	19: 42,598,715	T648K	probably damaging	Het
Lrit2	T	C	14: 37,069,005	F214L	possibly damaging	Het
N4bp2	T	G	5: 65,808,094	L1162R	probably damaging	Het
Naa40	A	T	19: 7,230,008	I117N	probably benign	Het
Ncapd3	T	C	9: 27,094,758	S1492P	probably benign	Het
Nf2	T	A	11: 4,816,146	D128V	probably benign	Het
Nox4	T	C	7: 87,360,793	S401P	probably benign	Het
Nt5c1b	T	C	12: 10,377,171	V323A	probably damaging	Het
Olfr1474	G	A	19: 13,471,878	V303I	probably benign	Het
Olfr601	T	A	7: 103,358,369	H275L	probably damaging	Het
Olfr622	C	T	7: 103,639,256	V295I	probably benign	Het
Pcdhb14	T	C	18: 37,448,750	V303A	probably benign	Het
Pde8a	C	A	7: 81,213,965	H17Q	probably benign	Het
Pfkl	C	T	10: 77,988,724	V716I	probably benign	Het
Phc3	G	A	3: 30,936,583	S495L	possibly damaging	Het
Psg18	A	G	7: 18,346,602		probably benign	Het
Rcc2	T	G	4: 140,712,138	N175K	possibly damaging	Het
Rhot2	G	A	17: 25,840,058	T276I	probably benign	Het
Rnase9	A	T	14: 51,038,988	Y178N	probably benign	Het
Slc35d2	T	C	13: 64,118,413		probably null	Het
Sptlc3	A	T	2: 139,547,206	N169Y	probably damaging	Het
Srsf9	T	G	5: 115,331,465	M29R	probably benign	Het
Stip1	C	A	19: 7,022,068	D449Y	possibly damaging	Het
Syne2	T	A	12: 75,880,291		probably null	Het
Tgm5	A	G	2: 121,085,660		probably null	Het
Thbs2	A	T	17: 14,681,430		probably null	Het
Trak2	T	C	1: 58,919,273	E283G	probably damaging	Het
Trbv21	A	G	6: 41,202,858	Y36C	probably damaging	Het
Trpm7	A	T	2: 126,822,611	Y949*	probably null	Het
Ubqln5	T	C	7: 104,128,954	D221G	possibly damaging	Het
Ubxn4	T	A	1: 128,259,525	V85D	possibly damaging	Het
Vmn1r172	T	A	7: 23,660,175	W162R	probably benign	Het
Vrk2	A	G	11: 26,534,314		probably benign	Het
Zc3h8	A	C	2: 128,929,904	D276E	probably benign	Het
Zfp369	C	T	13: 65,297,278	T745I	possibly damaging	Het
Zfp608	T	C	18: 54,898,906	K654R	probably damaging	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
R1687:Sema4b	UTSW	7	80219262	missense	probably damaging	1.00
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
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
R8345:Sema4b	UTSW	7	80220819	missense	probably damaging	0.98
R8819:Sema4b	UTSW	7	80220500	missense	probably damaging	1.00
R8820:Sema4b	UTSW	7	80220500	missense	probably damaging	1.00
R8960:Sema4b	UTSW	7	80225328	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATTCCTGTGTGACTCAGC -3'
(R):5'- ACAGCCAAATTAACTCTGTGC -3'

Sequencing Primer
(F):5'- TGTGTGACTCAGCTACTGC -3'
(R):5'- TGAGGCTCGAGATGCCATCAG -3'

Posted On

2016-12-20