Mutagenetix > Incidental Mutation

Incidental Mutation 'R6749:Sema4b'

532888

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

R6749 (G1)

Quality Score

136.008

Status

Validated

Chromosome

Chromosomal Location

80186841-80226527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80220201 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 412 (D412E)

Ref Sequence

ENSEMBL: ENSMUSP00000145622 (fasta)

Gene Model

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

AlphaFold

Q62179

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032754
AA Change: D412E

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: D412E

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

possibly damaging
Transcript: ENSMUST00000205822
AA Change: D412E

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

100% (47/47)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 120,010,774	V875A	possibly damaging	Het
Arhgef15	A	T	11: 68,954,557	F156L	probably damaging	Het
Bdh2	T	A	3: 135,300,691	S184T	probably damaging	Het
Bmp5	A	T	9: 75,776,093	M1L	probably benign	Het
Cacfd1	T	C	2: 27,018,455	Y134H	probably damaging	Het
Camk1	G	A	6: 113,334,525	P340L	probably benign	Het
Ccdc105	A	C	10: 78,752,838	M46R	possibly damaging	Het
Cdc14a	T	C	3: 116,297,158	H424R	possibly damaging	Het
Cntfr	T	A	4: 41,663,232	T192S	possibly damaging	Het
Erbin	G	T	13: 103,834,377	S910R	probably damaging	Het
Esrp1	A	T	4: 11,357,519	V366E	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fsip2	T	A	2: 82,978,394	S1686T	possibly damaging	Het
Gata5	A	G	2: 180,334,350	L7S	probably damaging	Het
Hgf	T	A	5: 16,613,642		probably null	Het
Ift140	A	G	17: 25,098,916	E1458G	probably damaging	Het
Ift57	G	A	16: 49,760,984	G209R	probably benign	Het
Il12rb2	G	T	6: 67,361,966		probably benign	Het
Krt78	G	A	15: 101,950,923	R280C	probably damaging	Het
Lipc	A	G	9: 70,823,386	I88T	probably damaging	Het
Lrmda	G	T	14: 22,027,276	R27L	probably benign	Het
Lrrc37a	T	G	11: 103,502,097	E834A	probably benign	Het
Mmachc	C	A	4: 116,704,541	R132L	probably damaging	Het
Myo10	T	C	15: 25,714,110	Y88H	probably damaging	Het
Myo5b	G	A	18: 74,701,503	R878Q	possibly damaging	Het
Olfr1392	A	G	11: 49,294,050	H243R	probably damaging	Het
Padi3	T	C	4: 140,795,853	T289A	possibly damaging	Het
Pcdhgb4	G	T	18: 37,721,229	A226S	possibly damaging	Het
Pde4c	T	C	8: 70,746,010	V167A	probably damaging	Het
Pigr	A	G	1: 130,846,548	T422A	probably benign	Het
Pmp2	T	C	3: 10,182,482	Y49C	probably benign	Het
Prpf39	A	G	12: 65,056,274	I441V	possibly damaging	Het
Ptprs	A	G	17: 56,437,884	V284A	probably damaging	Het
Rsad1	T	C	11: 94,543,340	E354G	probably damaging	Het
Siglecg	A	G	7: 43,408,979	I97V	probably benign	Het
Slc4a3	C	T	1: 75,554,538	R792*	probably null	Het
Slc6a20a	A	G	9: 123,637,070	C569R	probably damaging	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Sult2a3	T	A	7: 14,082,704	Y183F	probably benign	Het
Tedc1	C	T	12: 113,158,082	T194M	probably damaging	Het
Tmem63c	T	A	12: 87,075,665	N412K	probably damaging	Het
Trav5-1	T	C	14: 52,622,945	I69T	possibly damaging	Het
Trim68	T	C	7: 102,678,783	D321G	probably damaging	Het
Ttn	T	C	2: 76,865,256		probably benign	Het
Vars2	A	G	17: 35,666,713	V109A	probably damaging	Het
Vmn2r96	C	T	17: 18,598,090	P643L	probably damaging	Het
Zfpm2	G	T	15: 40,954,708	V146F	possibly damaging	Het
Znfx1	T	C	2: 167,056,599	K135R	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
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
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
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'- TTGCCTTTGGACCAGCACAG -3'
(R):5'- CTACCAGCCATGCATGTATTG -3'

Sequencing Primer
(F):5'- GAAAGGCAGATGTTCCATGATTTCTG -3'
(R):5'- GCATGTATTGCCCTCCTTAAC -3'

Posted On

2018-08-29