Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Sema4b'

302366

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

SemC, Semac

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

79836589-79876275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79866789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 255 (G255D)

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: G255D

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

SMART Domains

Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: G255D

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: G255D

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,725,648 (GRCm39)	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,567,776 (GRCm39)	L680P	probably damaging	Het
Alox12	A	T	11: 70,138,104 (GRCm39)	D410E	probably benign	Het
Amt	T	A	9: 108,178,579 (GRCm39)	V365E	probably damaging	Het
Ano9	A	G	7: 140,687,353 (GRCm39)	S321P	probably damaging	Het
Atp2c2	A	T	8: 120,479,771 (GRCm39)	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643 (GRCm39)	Y338N	probably benign	Het
Bcr	T	A	10: 74,990,796 (GRCm39)	D767E	probably benign	Het
Chfr	A	T	5: 110,302,705 (GRCm39)	Q350L	probably damaging	Het
Cops3	A	T	11: 59,721,043 (GRCm39)	L124H	probably damaging	Het
Ddx60	T	C	8: 62,437,149 (GRCm39)	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,975,479 (GRCm39)		probably benign	Het
Dym	C	T	18: 75,215,527 (GRCm39)	Q238*	probably null	Het
Fbn1	A	T	2: 125,193,945 (GRCm39)	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,212,203 (GRCm39)	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,309,873 (GRCm39)	R221L	probably damaging	Het
Gpat2	A	G	2: 127,269,251 (GRCm39)	N8S	probably benign	Het
Gvin2	T	C	7: 105,545,972 (GRCm39)	K2360R	probably damaging	Het
Hycc2	A	T	1: 58,574,561 (GRCm39)	W327R	probably damaging	Het
Ift52	A	G	2: 162,887,135 (GRCm39)	D379G	probably damaging	Het
Inhbe	C	A	10: 127,186,645 (GRCm39)	L178F	probably damaging	Het
Ipo5	T	C	14: 121,181,212 (GRCm39)	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,099,968 (GRCm39)	D1507E	possibly damaging	Het
Lnx2	A	G	5: 146,964,984 (GRCm39)	V413A	probably damaging	Het
Lrrc40	C	A	3: 157,742,410 (GRCm39)	F16L	probably damaging	Het
Magi2	A	G	5: 19,432,581 (GRCm39)	K99E	probably damaging	Het
Me3	A	G	7: 89,495,461 (GRCm39)	I357M	probably benign	Het
Med30	A	G	15: 52,582,761 (GRCm39)	Y66C	probably benign	Het
Mief2	A	T	11: 60,621,783 (GRCm39)	S118C	probably damaging	Het
Mylip	A	G	13: 45,544,722 (GRCm39)	S49G	probably benign	Het
Ncoa7	T	A	10: 30,528,972 (GRCm39)	D107V	probably damaging	Het
Nvl	C	A	1: 180,934,541 (GRCm39)	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,508,645 (GRCm39)	T501I	probably benign	Het
Ormdl2	T	C	10: 128,656,186 (GRCm39)	I40V	probably benign	Het
Pde6b	G	T	5: 108,568,142 (GRCm39)		probably benign	Het
Ralgapa1	A	C	12: 55,720,292 (GRCm39)	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,341,078 (GRCm39)		probably null	Het
Sema3c	A	T	5: 17,781,866 (GRCm39)	M1L	possibly damaging	Het
Sema3c	T	A	5: 17,867,972 (GRCm39)	Y128N	probably damaging	Het
Setd1a	C	T	7: 127,394,997 (GRCm39)		probably benign	Het
Sirpb1a	A	C	3: 15,482,111 (GRCm39)	S72R	possibly damaging	Het
Slu7	T	A	11: 43,332,849 (GRCm39)		probably null	Het
Spata19	T	C	9: 27,309,276 (GRCm39)	V59A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Suclg1	T	A	6: 73,237,504 (GRCm39)	V83E	probably damaging	Het
Syncrip	G	T	9: 88,338,457 (GRCm39)	R536S	probably benign	Het
Tap2	T	C	17: 34,424,432 (GRCm39)	V55A	probably damaging	Het
Tekt4	T	C	17: 25,692,732 (GRCm39)	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,602 (GRCm39)	D462E	possibly damaging	Het
Ubqln3	T	G	7: 103,791,170 (GRCm39)	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,886,727 (GRCm39)	I272K	probably benign	Het
Xpr1	T	C	1: 155,166,026 (GRCm39)	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,247,859 (GRCm39)	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,628,501 (GRCm39)	H159L	probably damaging	Het

Other mutations in Sema4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Sema4b	APN	7	79,865,444 (GRCm39)	missense	probably damaging	1.00
IGL02584:Sema4b	APN	7	79,874,736 (GRCm39)	missense	probably benign
false_flag	UTSW	7	79,848,402 (GRCm39)	start codon destroyed	probably null
R0114:Sema4b	UTSW	7	79,868,826 (GRCm39)	splice site	probably benign
R0480:Sema4b	UTSW	7	79,869,954 (GRCm39)	missense	probably damaging	1.00
R1184:Sema4b	UTSW	7	79,874,388 (GRCm39)	missense	probably benign	0.27
R1545:Sema4b	UTSW	7	79,868,771 (GRCm39)	missense	probably benign	0.02
R1687:Sema4b	UTSW	7	79,869,010 (GRCm39)	missense	probably damaging	1.00
R1880:Sema4b	UTSW	7	79,866,540 (GRCm39)	missense	probably damaging	0.96
R1881:Sema4b	UTSW	7	79,866,540 (GRCm39)	missense	probably damaging	0.96
R2180:Sema4b	UTSW	7	79,862,583 (GRCm39)	missense	probably benign	0.28
R2352:Sema4b	UTSW	7	79,870,627 (GRCm39)	missense	probably damaging	0.99
R2424:Sema4b	UTSW	7	79,869,023 (GRCm39)	missense	probably damaging	1.00
R3913:Sema4b	UTSW	7	79,870,222 (GRCm39)	missense	probably benign
R4353:Sema4b	UTSW	7	79,865,399 (GRCm39)	missense	probably damaging	1.00
R4757:Sema4b	UTSW	7	79,866,577 (GRCm39)	missense	probably damaging	1.00
R4921:Sema4b	UTSW	7	79,848,504 (GRCm39)	missense	possibly damaging	0.77
R5004:Sema4b	UTSW	7	79,866,093 (GRCm39)	missense	probably benign	0.13
R5399:Sema4b	UTSW	7	79,874,634 (GRCm39)	missense	probably benign
R5599:Sema4b	UTSW	7	79,863,039 (GRCm39)	missense	probably benign	0.40
R5820:Sema4b	UTSW	7	79,874,706 (GRCm39)	missense	probably damaging	0.99
R5840:Sema4b	UTSW	7	79,868,697 (GRCm39)	missense	probably damaging	1.00
R5901:Sema4b	UTSW	7	79,874,715 (GRCm39)	missense	possibly damaging	0.49
R6600:Sema4b	UTSW	7	79,862,676 (GRCm39)	missense	probably benign	0.42
R6749:Sema4b	UTSW	7	79,869,949 (GRCm39)	missense	possibly damaging	0.56
R6992:Sema4b	UTSW	7	79,869,900 (GRCm39)	missense	probably damaging	0.97
R7175:Sema4b	UTSW	7	79,848,402 (GRCm39)	start codon destroyed	probably null
R7660:Sema4b	UTSW	7	79,869,995 (GRCm39)	missense	probably benign	0.01
R8345:Sema4b	UTSW	7	79,870,567 (GRCm39)	missense	probably damaging	0.98
R8819:Sema4b	UTSW	7	79,870,248 (GRCm39)	missense	probably damaging	1.00
R8820:Sema4b	UTSW	7	79,870,248 (GRCm39)	missense	probably damaging	1.00
R8960:Sema4b	UTSW	7	79,875,076 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16