Mutagenetix > Incidental Mutation

Incidental Mutation 'R6419:Sema6b'

518037

Institutional Source

Beutler Lab

Gene Symbol

Sema6b

Ensembl Gene

ENSMUSG00000001227

Gene Name

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

Synonyms

Sema, Seman, semaZ, VIb

MMRRC Submission

044561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R6419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56123085-56140343 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 56132784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 19 (L19*)

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: L19*

SMART Domains

Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227
AA Change: L19*

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: L19*

SMART Domains

Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227
AA Change: L19*

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

96% (67/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	C	4: 42,812,473 (GRCm38)		probably benign	Het
Abcc2	T	A	19: 43,837,508 (GRCm38)		probably null	Het
Adamts12	C	T	15: 11,215,673 (GRCm38)	T260M	possibly damaging	Het
Adamts20	C	T	15: 94,333,675 (GRCm38)	V878I	possibly damaging	Het
Adgrl4	A	G	3: 151,439,316 (GRCm38)	E34G	probably damaging	Het
Asah1	A	T	8: 41,343,766 (GRCm38)	I293N	probably damaging	Het
B3galt2	A	T	1: 143,647,101 (GRCm38)	E325V	possibly damaging	Het
Baz1b	T	A	5: 135,242,494 (GRCm38)	H1310Q	probably benign	Het
Ccdc125	T	A	13: 100,690,326 (GRCm38)	N204K	probably damaging	Het
Cd36	C	T	5: 17,797,152 (GRCm38)	D284N	probably benign	Het
Cdh12	T	C	15: 21,520,397 (GRCm38)	L316S	probably damaging	Het
Cenpv	T	C	11: 62,525,182 (GRCm38)	K247R	probably benign	Het
Cldn18	T	C	9: 99,692,748 (GRCm38)	H257R	possibly damaging	Het
Cnot8	T	A	11: 58,114,065 (GRCm38)	Y197N	probably damaging	Het
Cog3	A	T	14: 75,724,738 (GRCm38)	C554*	probably null	Het
Col4a4	A	G	1: 82,466,486 (GRCm38)		probably null	Het
Cops5	G	A	1: 10,033,307 (GRCm38)	T158I	probably damaging	Het
Dhh	A	G	15: 98,894,401 (GRCm38)	F242S	probably damaging	Het
Dot1l	T	C	10: 80,791,481 (GRCm38)	V1512A	possibly damaging	Het
Dstn	T	G	2: 143,939,987 (GRCm38)	I116S	possibly damaging	Het
Egfem1	G	A	3: 29,657,249 (GRCm38)	D326N	probably damaging	Het
Enpp3	A	T	10: 24,808,191 (GRCm38)	Y52N	probably damaging	Het
Fam214a	G	A	9: 75,009,337 (GRCm38)	S413N	probably benign	Het
Gabra2	A	G	5: 70,962,083 (GRCm38)	S359P	probably benign	Het
Gbp7	G	A	3: 142,546,453 (GRCm38)	G599E	probably benign	Het
Gcat	T	G	15: 79,036,064 (GRCm38)	I198S	probably damaging	Het
Gm8439	A	G	4: 120,609,558 (GRCm38)	K82R	unknown	Het
Grin2b	A	G	6: 135,740,967 (GRCm38)	F709S	probably damaging	Het
Grm3	T	C	5: 9,570,201 (GRCm38)	N348D	probably damaging	Het
Hdgfl1	G	A	13: 26,770,092 (GRCm38)		probably benign	Het
Hmgxb3	G	T	18: 61,152,224 (GRCm38)	D564E	possibly damaging	Het
Igkv4-61	C	A	6: 69,417,154 (GRCm38)	A31S	possibly damaging	Het
Impg1	A	G	9: 80,380,018 (GRCm38)	V305A	probably benign	Het
Ints7	T	A	1: 191,602,302 (GRCm38)	S313T	possibly damaging	Het
Knl1	T	A	2: 119,069,003 (GRCm38)	I395K	probably benign	Het
Lactb2	A	T	1: 13,638,235 (GRCm38)	Y196*	probably null	Het
Lad1	T	C	1: 135,831,892 (GRCm38)	S509P	possibly damaging	Het
Ltf	T	C	9: 111,031,022 (GRCm38)	F504L	possibly damaging	Het
Med4	A	T	14: 73,513,923 (GRCm38)	D104V	probably damaging	Het
Mrpl58	A	T	11: 115,410,247 (GRCm38)	N128Y	probably damaging	Het
Ndufs2	T	C	1: 171,241,099 (GRCm38)	T54A	probably benign	Het
Notch2	G	T	3: 98,100,389 (GRCm38)		probably null	Het
Ntng1	A	T	3: 109,782,853 (GRCm38)	N424K	possibly damaging	Het
Ntrk2	G	A	13: 58,861,299 (GRCm38)	W301*	probably null	Het
Olfr1471	T	A	19: 13,445,767 (GRCm38)	S252T	probably benign	Het
Otud6b	A	G	4: 14,822,766 (GRCm38)	S113P	possibly damaging	Het
Papd7	A	C	13: 69,510,666 (GRCm38)	M350R	possibly damaging	Het
Pcdhb20	A	G	18: 37,505,555 (GRCm38)	N378S	probably damaging	Het
Polr3b	T	C	10: 84,638,111 (GRCm38)	S185P	possibly damaging	Het
Ptprn	G	A	1: 75,264,037 (GRCm38)	R31C	probably benign	Het
Rgsl1	C	T	1: 153,822,371 (GRCm38)	V478M	probably damaging	Het
Slfn8	A	G	11: 83,004,055 (GRCm38)		probably null	Het
Spen	A	T	4: 141,476,310 (GRCm38)	S1669T	unknown	Het
Syne2	T	C	12: 76,096,966 (GRCm38)	F1522L	probably damaging	Het
Tarbp1	C	T	8: 126,459,044 (GRCm38)	A470T	possibly damaging	Het
Tiam1	C	A	16: 89,898,024 (GRCm38)	E182*	probably null	Het
Tmem231	G	A	8: 111,926,892 (GRCm38)		probably benign	Het
Trip12	C	T	1: 84,793,870 (GRCm38)	A186T	probably damaging	Het
Ufc1	C	T	1: 171,288,956 (GRCm38)	A147T	probably damaging	Het
Vmn1r199	A	G	13: 22,383,607 (GRCm38)	K314R	possibly damaging	Het
Vmn2r13	A	T	5: 109,175,219 (GRCm38)	I68K	possibly damaging	Het
Vmn2r77	A	T	7: 86,811,559 (GRCm38)	I698F	probably damaging	Het
Vmn2r86	T	C	10: 130,446,926 (GRCm38)	K607R	probably damaging	Het
Vwa3b	T	C	1: 37,157,376 (GRCm38)	V28A	probably benign	Het
Wdr19	A	G	5: 65,215,893 (GRCm38)	N166S	possibly damaging	Het
Wfdc17	G	A	11: 83,704,808 (GRCm38)	G33R	probably damaging	Het
Zfp330	T	G	8: 82,764,916 (GRCm38)	K209N	probably benign	Het
Zfp493	A	G	13: 67,786,407 (GRCm38)	T160A	probably benign	Het
Zfp974	A	T	7: 27,911,515 (GRCm38)	C262S	possibly damaging	Het

Other mutations in Sema6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Sema6b	APN	17	56,130,048 (GRCm38)	missense	probably damaging	1.00
IGL01102:Sema6b	APN	17	56,132,761 (GRCm38)	missense	possibly damaging	0.91
IGL01533:Sema6b	APN	17	56,129,499 (GRCm38)	splice site	probably benign
IGL01611:Sema6b	APN	17	56,129,969 (GRCm38)	splice site	probably null
IGL01996:Sema6b	APN	17	56,131,157 (GRCm38)	missense	probably damaging	1.00
IGL02118:Sema6b	APN	17	56,132,821 (GRCm38)	missense	probably benign
R0010:Sema6b	UTSW	17	56,124,105 (GRCm38)	missense	probably benign	0.06
R0066:Sema6b	UTSW	17	56,128,271 (GRCm38)	missense	possibly damaging	0.83
R0066:Sema6b	UTSW	17	56,128,271 (GRCm38)	missense	possibly damaging	0.83
R0525:Sema6b	UTSW	17	56,126,630 (GRCm38)	missense	probably damaging	0.96
R0635:Sema6b	UTSW	17	56,129,971 (GRCm38)	critical splice donor site	probably null
R1129:Sema6b	UTSW	17	56,124,347 (GRCm38)	missense	probably benign
R1927:Sema6b	UTSW	17	56,132,797 (GRCm38)	missense	probably benign	0.00
R2211:Sema6b	UTSW	17	56,124,741 (GRCm38)	missense	probably benign	0.00
R4081:Sema6b	UTSW	17	56,128,307 (GRCm38)	missense	probably damaging	0.99
R5013:Sema6b	UTSW	17	56,132,497 (GRCm38)	critical splice donor site	probably null
R5296:Sema6b	UTSW	17	56,127,091 (GRCm38)	critical splice acceptor site	probably null
R5314:Sema6b	UTSW	17	56,128,413 (GRCm38)	nonsense	probably null
R6317:Sema6b	UTSW	17	56,124,047 (GRCm38)	missense	probably benign	0.26
R7255:Sema6b	UTSW	17	56,125,336 (GRCm38)	missense	probably benign	0.01
R7289:Sema6b	UTSW	17	56,125,573 (GRCm38)	missense	possibly damaging	0.77
R7805:Sema6b	UTSW	17	56,131,555 (GRCm38)	missense	probably damaging	1.00
R8157:Sema6b	UTSW	17	56,128,448 (GRCm38)	missense	probably damaging	1.00
R8290:Sema6b	UTSW	17	56,124,803 (GRCm38)	missense	possibly damaging	0.93
R8305:Sema6b	UTSW	17	56,127,084 (GRCm38)	missense	probably damaging	1.00
R9502:Sema6b	UTSW	17	56,132,500 (GRCm38)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGGCTCAAGTCTAAGGGAGG -3'
(R):5'- CACATGTGGTCTTAAAGTCGC -3'

Sequencing Primer
(F):5'- CTCAAGTCTAAGGGAGGGAGTG -3'
(R):5'- ATTTTTATTCTGGGAGGGAGGAAG -3'

Posted On

2018-05-24