Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02584:Sema4b'

299482

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

IGL02584

Quality Score

Status

Chromosome

Chromosomal Location

80186841-80226527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80224988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 709 (T709A)

Ref Sequence

ENSEMBL: ENSMUSP00000145622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032754] [ENSMUST00000065163] [ENSMUST00000071457] [ENSMUST00000123279] [ENSMUST00000205822] [ENSMUST00000205996] [ENSMUST00000206084] [ENSMUST00000206802]

AlphaFold

Q62179

Predicted Effect

probably benign
Transcript: ENSMUST00000032754
AA Change: T709A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: T709A

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

probably benign
Transcript: ENSMUST00000065163

SMART Domains

Protein: ENSMUSP00000070901
Gene: ENSMUSG00000030538

Domain	Start	End	E-Value	Type
low complexity region	84	100	N/A	INTRINSIC
EFh	107	135	4.4e0	SMART
EFh	152	180	1.17e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000071457

SMART Domains

Protein: ENSMUSP00000071401
Gene: ENSMUSG00000030538

Domain	Start	End	E-Value	Type
low complexity region	36	52	N/A	INTRINSIC
EFh	59	87	4.4e0	SMART
EFh	104	132	1.17e-2	SMART

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 benign
Transcript: ENSMUST00000123279

SMART Domains

Protein: ENSMUSP00000118926
Gene: ENSMUSG00000030538

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
EFh	33	61	4.4e0	SMART
EFh	78	106	1.17e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131402

Predicted Effect

probably benign
Transcript: ENSMUST00000205822
AA Change: T709A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000205996

Predicted Effect

probably benign
Transcript: ENSMUST00000206084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206211

Predicted Effect

probably benign
Transcript: ENSMUST00000206802

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 89,174,856	Y22F	unknown	Het
Adgrb3	A	G	1: 25,504,984	L312P	probably damaging	Het
Anpep	T	C	7: 79,825,393		probably benign	Het
Arhgef6	T	G	X: 57,246,378		probably benign	Het
Catsperg1	T	C	7: 29,184,721	D989G	probably damaging	Het
Ccnj	T	A	19: 40,844,741	V121E	probably benign	Het
Cdyl	T	C	13: 35,683,786	L15P	probably benign	Het
Cnrip1	T	A	11: 17,078,536	M156K	probably damaging	Het
Cryga	T	A	1: 65,103,016	S73C	probably benign	Het
Dennd4a	A	G	9: 64,851,298	T240A	probably damaging	Het
Eml6	A	G	11: 29,749,387	S1789P	probably damaging	Het
Esr2	A	T	12: 76,145,262	W331R	probably damaging	Het
Fbxo18	A	T	2: 11,759,958	L455H	probably benign	Het
Gm21698	T	A	5: 25,987,393	E65V	probably damaging	Het
Grm8	G	T	6: 27,762,439	F262L	probably benign	Het
Haus3	A	T	5: 34,166,258	L336*	probably null	Het
Hfm1	A	C	5: 106,878,662		probably null	Het
Hgfac	T	C	5: 35,043,961		probably benign	Het
Ighv1-22	T	C	12: 114,746,322	E101G	probably benign	Het
Impg2	A	G	16: 56,265,011	E1027G	probably damaging	Het
Lypd5	A	T	7: 24,353,568	T217S	possibly damaging	Het
Myrf	A	G	19: 10,212,223		probably benign	Het
Mzf1	A	G	7: 13,052,817	W109R	probably damaging	Het
Ndufb4	A	T	16: 37,649,170		probably benign	Het
Ntn1	A	G	11: 68,277,530	V367A	probably damaging	Het
Olfr1029	C	T	2: 85,975,875	L211F	probably damaging	Het
Oprk1	A	G	1: 5,598,604	K91R	probably damaging	Het
Pdlim1	A	G	19: 40,243,400		probably null	Het
Ppp1r11	G	A	17: 36,949,889	R61C	probably damaging	Het
Racgap1	T	C	15: 99,623,634	D547G	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Supt5	T	C	7: 28,326,167	H218R	probably benign	Het
Tmem132c	T	A	5: 127,504,999	I426N	probably damaging	Het
Tpcn1	T	C	5: 120,539,032	N696S	probably damaging	Het
Ttn	T	C	2: 76,736,162	N26383S	possibly damaging	Het
Vax2	A	G	6: 83,711,513	T73A	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	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
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
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

Posted On

2015-04-16