Mutagenetix > Incidental Mutation

Incidental Mutation 'R5314:Sema6b'

405771

Institutional Source

Beutler Lab

Gene Symbol

Sema6b

Ensembl Gene

ENSMUSG00000001227

Gene Name

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

Synonyms

semaZ, Seman, VIb, Sema

MMRRC Submission

042897-MU

Accession Numbers

Essential gene?

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

Stock #

R5314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56430085-56447343 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 56435413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 277 (R277*)

Ref Sequence

ENSEMBL: ENSMUSP00000130985 (fasta)

Gene Model

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

AlphaFold

O54951

Predicted Effect

probably null
Transcript: ENSMUST00000001256
AA Change: R277*

SMART Domains

Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227
AA Change: R277*

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
AA Change: R277*

SMART Domains

Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227
AA Change: R277*

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,473,172 (GRCm39)	F109S	unknown	Het
Ankhd1	A	T	18: 36,694,111 (GRCm39)		probably null	Het
Atp8a1	C	T	5: 67,863,248 (GRCm39)		probably null	Het
Ccdc136	G	T	6: 29,417,497 (GRCm39)	V707F	probably benign	Het
Ccdc157	A	T	11: 4,100,078 (GRCm39)	C91*	probably null	Het
Ceacam3	T	A	7: 16,892,296 (GRCm39)	N346K	possibly damaging	Het
Cfap251	A	G	5: 123,460,626 (GRCm39)	D1196G	probably benign	Het
Chd4	A	G	6: 125,077,551 (GRCm39)	E74G	probably damaging	Het
Cntn1	A	G	15: 92,192,892 (GRCm39)	M665V	probably benign	Het
Crtc2	C	T	3: 90,168,348 (GRCm39)	Q364*	probably null	Het
Csf1r	T	A	18: 61,262,796 (GRCm39)	I857N	probably damaging	Het
Dner	C	T	1: 84,558,460 (GRCm39)	G168D	probably damaging	Het
Edar	T	C	10: 58,443,182 (GRCm39)	T315A	probably benign	Het
Egflam	A	G	15: 7,333,493 (GRCm39)	V153A	probably damaging	Het
Enoph1	T	C	5: 100,211,682 (GRCm39)	I193T	possibly damaging	Het
Epc1	A	G	18: 6,462,969 (GRCm39)	I9T	probably damaging	Het
Fbxw18	T	A	9: 109,522,246 (GRCm39)	I208F	possibly damaging	Het
Gm4841	A	G	18: 60,403,364 (GRCm39)	V243A	probably benign	Het
Herc2	T	C	7: 55,869,534 (GRCm39)	V4297A	probably damaging	Het
Itsn2	C	T	12: 4,677,960 (GRCm39)	P106S	probably benign	Het
Kcnu1	A	G	8: 26,352,486 (GRCm39)	T218A	probably damaging	Het
Kif1a	A	G	1: 92,946,220 (GRCm39)	S1677P	probably damaging	Het
Krt14	A	T	11: 100,095,526 (GRCm39)	M293K	probably damaging	Het
Meis3	T	A	7: 15,917,989 (GRCm39)	V307E	probably damaging	Het
Nadk2	A	C	15: 9,108,401 (GRCm39)	I417L	probably benign	Het
Nav2	AAGCAGCAGCAGCAGCAGCAGCAGCA	AAGCAGCAGCAGCAGCAGCAGCA	7: 49,058,440 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,171,515 (GRCm39)	N1659K	probably benign	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Or10w1	T	C	19: 13,632,630 (GRCm39)	V274A	probably benign	Het
Or8g32	T	C	9: 39,305,785 (GRCm39)	S233P	probably damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pde3b	A	T	7: 114,093,772 (GRCm39)	N339Y	probably damaging	Het
Pde8b	A	G	13: 95,223,361 (GRCm39)	F298L	possibly damaging	Het
Phtf1	G	A	3: 103,906,603 (GRCm39)	R606H	probably damaging	Het
Psd4	A	G	2: 24,290,528 (GRCm39)	D535G	possibly damaging	Het
Rad51ap1	A	G	6: 126,905,121 (GRCm39)	V130A	probably damaging	Het
Rbm11	T	C	16: 75,393,474 (GRCm39)	F57L	probably damaging	Het
Rprd2	A	G	3: 95,671,401 (GRCm39)	V1334A	possibly damaging	Het
Satb2	T	C	1: 56,870,686 (GRCm39)	E433G	probably damaging	Het
Sepsecs	A	T	5: 52,805,015 (GRCm39)	S349T	probably benign	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Slc7a2	T	C	8: 41,368,067 (GRCm39)		probably null	Het
Smc1b	T	A	15: 84,955,066 (GRCm39)	Y1062F	probably benign	Het
Snrnp70	G	A	7: 45,026,476 (GRCm39)	R298*	probably null	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Taar8c	A	T	10: 23,977,246 (GRCm39)	C189S	probably damaging	Het
Tas1r2	T	A	4: 139,382,672 (GRCm39)	D103E	probably damaging	Het
Timd2	T	C	11: 46,568,087 (GRCm39)	I236V	probably benign	Het
Tmem87a	A	G	2: 120,208,407 (GRCm39)	V316A	probably damaging	Het
Treml2	T	A	17: 48,607,601 (GRCm39)	L16Q	probably damaging	Het
Zcchc14	G	A	8: 122,335,337 (GRCm39)		probably benign	Het
Zfp462	T	C	4: 55,013,178 (GRCm39)	Y567H	probably damaging	Het
Zfp551	G	A	7: 12,150,087 (GRCm39)	R441*	probably null	Het
Zfp930	A	G	8: 69,679,373 (GRCm39)	I59M	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
IGL01611:Sema6b	APN	17	56,436,969 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGATTCTGGCCAACAAAC -3'
(R):5'- GTTTTGCACTGTCACCTGTG -3'

Sequencing Primer
(F):5'- CTGATGGCAAGGGCTGAC -3'
(R):5'- ACTGTCACCTGTGCCACC -3'

Posted On

2016-07-22