Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01611:Sema6b'

92129

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sema6b

Ensembl Gene

ENSMUSG00000001227

Gene Name

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B

Synonyms

semaZ, Seman, VIb, Sema

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

IGL01611

Quality Score

Status

Chromosome

Chromosomal Location

56430085-56447343 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 56436969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001256] [ENSMUST00000167545]

AlphaFold

O54951

Predicted Effect

probably null
Transcript: ENSMUST00000001256

SMART Domains

Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227

Domain	Start	End	E-Value	Type
low complexity region	13	21	N/A	INTRINSIC
Sema	66	496	2.48e-177	SMART
PSI	527	581	4.09e-1	SMART
transmembrane domain	604	626	N/A	INTRINSIC
low complexity region	655	685	N/A	INTRINSIC
low complexity region	707	718	N/A	INTRINSIC
low complexity region	739	760	N/A	INTRINSIC
low complexity region	855	866	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167545

SMART Domains

Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227

Domain	Start	End	E-Value	Type
low complexity region	13	21	N/A	INTRINSIC
Sema	66	496	2.48e-177	SMART
PSI	527	581	4.09e-1	SMART
transmembrane domain	604	626	N/A	INTRINSIC
low complexity region	655	685	N/A	INTRINSIC
low complexity region	707	718	N/A	INTRINSIC
low complexity region	739	760	N/A	INTRINSIC
low complexity region	855	866	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mossy fiber and mossy cell axon projections, thickened suprapyramidal bundles, and elongated infrapyramydal bundles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,954,644 (GRCm39)	L209S	possibly damaging	Het
Abcc2	G	T	19: 43,815,068 (GRCm39)	V1152F	probably damaging	Het
Adam9	C	T	8: 25,457,212 (GRCm39)	V639I	probably benign	Het
Cdc6	A	G	11: 98,805,989 (GRCm39)	I388V	probably benign	Het
Chrm5	C	T	2: 112,310,651 (GRCm39)	W155*	probably null	Het
Chrna9	A	G	5: 66,128,287 (GRCm39)	D161G	probably damaging	Het
Det1	A	G	7: 78,477,702 (GRCm39)	V541A	possibly damaging	Het
Efhc1	G	T	1: 21,060,911 (GRCm39)	*649L	probably null	Het
Ehbp1	C	T	11: 22,122,883 (GRCm39)	V146M	probably damaging	Het
Enam	A	C	5: 88,651,608 (GRCm39)	D1039A	probably damaging	Het
Fam20b	A	T	1: 156,530,035 (GRCm39)	V133E	probably benign	Het
Frem2	T	A	3: 53,563,130 (GRCm39)	Q459L	probably benign	Het
Gapdhs	C	T	7: 30,429,866 (GRCm39)		probably benign	Het
Gm3404	T	A	5: 146,465,157 (GRCm39)	V299D	possibly damaging	Het
Gorasp2	C	A	2: 70,519,604 (GRCm39)	H310N	possibly damaging	Het
Gpr157	T	C	4: 150,186,094 (GRCm39)	S219P	possibly damaging	Het
Gpt2	T	A	8: 86,246,167 (GRCm39)	C375*	probably null	Het
Gtf2h3	T	C	5: 124,733,748 (GRCm39)	S274P	probably damaging	Het
Hmg20b	C	T	10: 81,183,309 (GRCm39)	V83M	probably benign	Het
Igf2r	G	T	17: 12,944,302 (GRCm39)	Y400*	probably null	Het
Ipo9	A	T	1: 135,314,431 (GRCm39)	W942R	possibly damaging	Het
Iqch	T	C	9: 63,403,519 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,383 (GRCm39)	L393P	probably benign	Het
Kcnk12	T	A	17: 88,104,495 (GRCm39)	I130L	probably benign	Het
Lcorl	T	C	5: 45,904,434 (GRCm39)	T205A	probably damaging	Het
Lpar6	G	T	14: 73,476,878 (GRCm39)	A280S	probably damaging	Het
Mgarp	A	T	3: 51,296,570 (GRCm39)	V152E	probably damaging	Het
Pard3b	A	G	1: 62,677,021 (GRCm39)	D1184G	probably damaging	Het
Pcnt	A	G	10: 76,272,258 (GRCm39)		probably null	Het
Pde6b	A	G	5: 108,551,262 (GRCm39)	N182S	possibly damaging	Het
Pom121	T	C	5: 135,412,526 (GRCm39)	K516E	unknown	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptpn18	T	C	1: 34,498,898 (GRCm39)		probably benign	Het
Rapgef5	C	T	12: 117,717,154 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,606,202 (GRCm39)	L4460S	possibly damaging	Het
Serpinb6d	T	A	13: 33,850,375 (GRCm39)	C67*	probably null	Het
Sorbs2	T	G	8: 46,248,381 (GRCm39)	V510G	probably null	Het
Spic	T	A	10: 88,511,864 (GRCm39)	I131F	possibly damaging	Het
Spire2	T	C	8: 124,086,137 (GRCm39)	S290P	probably damaging	Het
Tas2r117	C	T	6: 132,780,447 (GRCm39)	S195F	probably benign	Het
Tas2r117	T	C	6: 132,780,450 (GRCm39)	V196A	probably damaging	Het
Tff1	C	T	17: 31,381,703 (GRCm39)	G58D	probably damaging	Het
Tmprss11g	T	C	5: 86,638,640 (GRCm39)	T283A	probably benign	Het
Toporsl	T	A	4: 52,610,794 (GRCm39)	L229H	probably damaging	Het
Vmn2r80	G	A	10: 79,007,488 (GRCm39)	G488D	probably damaging	Het
Vps54	T	A	11: 21,261,082 (GRCm39)	V583D	probably damaging	Het
Vwa1	T	C	4: 155,855,255 (GRCm39)	E286G	possibly damaging	Het
Vwde	A	T	6: 13,219,977 (GRCm39)	I58N	probably damaging	Het
Zbtb11	T	C	16: 55,800,973 (GRCm39)	V109A	probably damaging	Het
Zfp319	C	T	8: 96,055,540 (GRCm39)	R221Q	probably benign	Het

Other mutations in Sema6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Sema6b	APN	17	56,437,048 (GRCm39)	missense	probably damaging	1.00
IGL01102:Sema6b	APN	17	56,439,761 (GRCm39)	missense	possibly damaging	0.91
IGL01533:Sema6b	APN	17	56,436,499 (GRCm39)	splice site	probably benign
IGL01996:Sema6b	APN	17	56,438,157 (GRCm39)	missense	probably damaging	1.00
IGL02118:Sema6b	APN	17	56,439,821 (GRCm39)	missense	probably benign
R0010:Sema6b	UTSW	17	56,431,105 (GRCm39)	missense	probably benign	0.06
R0066:Sema6b	UTSW	17	56,435,271 (GRCm39)	missense	possibly damaging	0.83
R0066:Sema6b	UTSW	17	56,435,271 (GRCm39)	missense	possibly damaging	0.83
R0525:Sema6b	UTSW	17	56,433,630 (GRCm39)	missense	probably damaging	0.96
R0635:Sema6b	UTSW	17	56,436,971 (GRCm39)	critical splice donor site	probably null
R1129:Sema6b	UTSW	17	56,431,347 (GRCm39)	missense	probably benign
R1927:Sema6b	UTSW	17	56,439,797 (GRCm39)	missense	probably benign	0.00
R2211:Sema6b	UTSW	17	56,431,741 (GRCm39)	missense	probably benign	0.00
R4081:Sema6b	UTSW	17	56,435,307 (GRCm39)	missense	probably damaging	0.99
R5013:Sema6b	UTSW	17	56,439,497 (GRCm39)	critical splice donor site	probably null
R5296:Sema6b	UTSW	17	56,434,091 (GRCm39)	critical splice acceptor site	probably null
R5314:Sema6b	UTSW	17	56,435,413 (GRCm39)	nonsense	probably null
R6317:Sema6b	UTSW	17	56,431,047 (GRCm39)	missense	probably benign	0.26
R6419:Sema6b	UTSW	17	56,439,784 (GRCm39)	nonsense	probably null
R7255:Sema6b	UTSW	17	56,432,336 (GRCm39)	missense	probably benign	0.01
R7289:Sema6b	UTSW	17	56,432,573 (GRCm39)	missense	possibly damaging	0.77
R7805:Sema6b	UTSW	17	56,438,555 (GRCm39)	missense	probably damaging	1.00
R8157:Sema6b	UTSW	17	56,435,448 (GRCm39)	missense	probably damaging	1.00
R8290:Sema6b	UTSW	17	56,431,803 (GRCm39)	missense	possibly damaging	0.93
R8305:Sema6b	UTSW	17	56,434,084 (GRCm39)	missense	probably damaging	1.00
R9502:Sema6b	UTSW	17	56,439,500 (GRCm39)	missense	probably benign	0.13

Posted On

2013-12-09