Mutagenetix > Incidental Mutation

Incidental Mutation 'R6248:Sema5b'

505641

Institutional Source

Beutler Lab

Gene Symbol

Sema5b

Ensembl Gene

ENSMUSG00000052133

Gene Name

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B

Synonyms

SemG, Semag, SemG

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6248 (G1)

Quality Score

212.009

Status

Validated

Chromosome

Chromosomal Location

35541145-35664732 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 35628007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050625] [ENSMUST00000120756]

AlphaFold

Q60519

Predicted Effect

probably null
Transcript: ENSMUST00000050625

SMART Domains

Protein: ENSMUSP00000057494
Gene: ENSMUSG00000052133

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Sema	68	479	1.68e-174	SMART
PSI	497	544	9.18e-12	SMART
TSP1	609	662	3.34e-15	SMART
TSP1	667	713	3.42e-12	SMART
TSP1	798	850	1.58e-16	SMART
TSP1	855	907	2.45e-13	SMART
TSP1	910	957	1.02e-1	SMART
transmembrane domain	977	999	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000120756

SMART Domains

Protein: ENSMUSP00000112536
Gene: ENSMUSG00000052133

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Sema	68	479	1.68e-174	SMART
PSI	497	544	9.18e-12	SMART
TSP1	609	662	3.34e-15	SMART
TSP1	667	742	7.61e-10	SMART
TSP1	827	879	1.58e-16	SMART
TSP1	884	936	2.45e-13	SMART
TSP1	939	986	1.02e-1	SMART
transmembrane domain	1006	1028	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133554

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (92/92)

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 protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 160,075,408	S83P	possibly damaging	Het
Actr10	A	T	12: 70,952,959	E176D	probably benign	Het
Adcy3	G	A	12: 4,208,662		probably null	Het
AI429214	T	A	8: 36,994,124	I142N	probably damaging	Het
Alox12	A	G	11: 70,253,110	L148S	probably damaging	Het
Ank3	A	G	10: 69,973,850	I1147V	probably benign	Het
Apoc2	C	T	7: 19,673,568	V12I	probably benign	Het
Arap3	T	C	18: 37,991,354	S311G	probably benign	Het
Arih2	G	T	9: 108,611,642	H292Q	probably damaging	Het
Cdc14a	A	T	3: 116,308,194	D312E	probably benign	Het
Cdh12	T	G	15: 21,237,714	W12G	possibly damaging	Het
Cisd2	A	T	3: 135,408,855	N118K	probably damaging	Het
Cntnap5b	A	G	1: 100,072,102	Q195R	probably benign	Het
Cyp2r1	A	G	7: 114,562,731		probably null	Het
Cyp4f37	A	G	17: 32,629,890	D244G	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dido1	T	A	2: 180,660,255	H1952L	probably damaging	Het
Dnah10	T	A	5: 124,794,219		probably null	Het
Dnal4	T	A	15: 79,762,513	M56L	probably damaging	Het
Emilin2	A	G	17: 71,274,117	V538A	probably benign	Het
Eps8l2	A	G	7: 141,342,102	D31G	probably damaging	Het
Erp44	A	T	4: 48,219,479	L112*	probably null	Het
Etl4	C	T	2: 20,809,089	T1907I	possibly damaging	Het
Exoc3	A	G	13: 74,182,281	F510L	probably benign	Het
Fam114a2	G	T	11: 57,493,116	T324K	possibly damaging	Het
Fer1l4	G	A	2: 156,046,171	R465C	probably damaging	Het
Frmd4b	A	C	6: 97,459,212	S2R	probably benign	Het
Fscn1	A	T	5: 142,961,023	D192V	possibly damaging	Het
Gm15922	C	A	7: 3,736,338	E510D	probably benign	Het
Gm3486	T	A	14: 41,484,515	*200C	probably null	Het
Gusb	A	T	5: 130,000,525	H138Q	probably benign	Het
Hdac9	A	T	12: 34,528,294	M4K	possibly damaging	Het
Hhipl1	G	T	12: 108,318,705	R439L	probably benign	Het
Hoxd9	A	G	2: 74,698,636	E194G	probably benign	Het
Itgb1	A	G	8: 128,722,421	S503G	possibly damaging	Het
Kcnt2	T	A	1: 140,509,478	C500S	probably damaging	Het
Kdm7a	G	A	6: 39,147,049	S727L	possibly damaging	Het
Klhdc4	A	G	8: 121,813,768	F92L	probably damaging	Het
Klrb1a	A	G	6: 128,619,174	V62A	probably damaging	Het
Krit1	A	G	5: 3,813,032		probably null	Het
Krt40	A	G	11: 99,541,740	I150T	possibly damaging	Het
Larp4b	A	G	13: 9,158,702	T464A	probably benign	Het
Lrrc52	T	G	1: 167,466,395	D107A	probably damaging	Het
Mapkap1	G	T	2: 34,518,680	V35F	probably damaging	Het
Mccc1	A	G	3: 35,990,164	V171A	probably damaging	Het
Metap1d	A	T	2: 71,515,760	R222*	probably null	Het
Mrgpre	G	A	7: 143,780,866	A300V	probably benign	Het
Mterf1b	C	A	5: 4,196,606	N82K	probably benign	Het
Myh9	C	T	15: 77,785,222	W533*	probably null	Het
Myom2	A	G	8: 15,098,472		probably null	Het
Ncor1	G	A	11: 62,366,982	P329S	probably damaging	Het
Nr2f1	T	C	13: 78,196,492		probably benign	Het
Olfr1348	A	T	7: 6,501,676	C183*	probably null	Het
Olfr1361	A	T	13: 21,659,074	I83N	possibly damaging	Het
Olfr417	T	G	1: 174,369,670	V251G	probably benign	Het
Olfr47	C	T	6: 43,235,904	Q99*	probably null	Het
Olfr551	T	C	7: 102,588,030	T238A	probably benign	Het
Olfr800	A	G	10: 129,660,663	I286V	probably benign	Het
Olfr96	T	A	17: 37,225,560	L145*	probably null	Het
Pcdha11	T	C	18: 37,005,897	L193P	probably benign	Het
Pcdhb20	T	A	18: 37,506,232	F604I	probably damaging	Het
Pde1a	T	C	2: 79,878,201	H291R	probably damaging	Het
Pfkm	G	A	15: 98,126,379	V423M	probably damaging	Het
Pkd2l1	G	T	19: 44,157,669	Q149K	probably benign	Het
Pkhd1l1	T	A	15: 44,529,559	N1763K	probably benign	Het
Pla2g4a	G	A	1: 149,872,587	T282I	probably damaging	Het
Prpf39	A	C	12: 65,042,754	N89H	probably damaging	Het
Rad54l2	A	G	9: 106,710,338	F743L	probably damaging	Het
Raver2	A	G	4: 101,134,123		probably null	Het
Ric8b	T	C	10: 84,947,845	L189P	probably damaging	Het
Sccpdh	T	C	1: 179,668,392	F13L	probably benign	Het
Scd2	T	C	19: 44,303,009	F296L	probably damaging	Het
Scg2	G	T	1: 79,436,306	D233E	probably benign	Het
Skint5	A	T	4: 113,779,089	V644E	unknown	Het
Slc44a5	G	T	3: 154,264,041	V612F	possibly damaging	Het
Snd1	C	T	6: 28,520,235	R107*	probably null	Het
Sun5	G	T	2: 153,860,669	T189K	probably damaging	Het
Tap1	A	T	17: 34,193,177	E452V	probably damaging	Het
Tcam1	A	G	11: 106,282,826	N32S	probably benign	Het
Tep1	T	C	14: 50,830,258	E2167G	probably damaging	Het
Tm9sf1	C	T	14: 55,636,370	R557H	probably damaging	Het
Tmem175	T	C	5: 108,645,955	V317A	probably damaging	Het
Tsga13	A	G	6: 30,897,204	V231A	probably benign	Het
Tspan12	A	G	6: 21,799,971	S126P	probably damaging	Het
Uvrag	G	T	7: 98,988,191	D143E	probably damaging	Het
Vmn1r230	T	A	17: 20,846,774	M75K	possibly damaging	Het
Vmn2r120	A	T	17: 57,545,287	F10I	probably benign	Het
Vmn2r57	T	C	7: 41,399,860	T822A	probably benign	Het
Vmn2r67	T	C	7: 85,150,560	Y490C	probably damaging	Het
Zc3h7b	T	A	15: 81,783,185	W644R	probably damaging	Het
Zeb1	A	G	18: 5,766,962	D491G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp831	A	T	2: 174,644,515	T328S	possibly damaging	Het

Other mutations in Sema5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Sema5b	APN	16	35651315	missense	probably damaging	1.00
IGL01584:Sema5b	APN	16	35645423	missense	probably damaging	1.00
IGL01859:Sema5b	APN	16	35647109	missense	possibly damaging	0.94
IGL02195:Sema5b	APN	16	35660479	critical splice acceptor site	probably null
IGL02346:Sema5b	APN	16	35649755	missense	probably damaging	1.00
IGL02850:Sema5b	APN	16	35660515	missense	probably benign	0.01
IGL03277:Sema5b	APN	16	35651312	missense	probably damaging	0.96
R0101:Sema5b	UTSW	16	35663102	splice site	probably benign
R0368:Sema5b	UTSW	16	35628100	missense	probably damaging	1.00
R0426:Sema5b	UTSW	16	35646355	missense	probably damaging	1.00
R0675:Sema5b	UTSW	16	35660333	missense	probably benign	0.00
R0905:Sema5b	UTSW	16	35622631	missense	probably benign	0.33
R1163:Sema5b	UTSW	16	35628096	missense	probably benign	0.19
R1195:Sema5b	UTSW	16	35651660	missense	probably null	0.94
R1195:Sema5b	UTSW	16	35651660	missense	probably null	0.94
R1666:Sema5b	UTSW	16	35658482	missense	probably benign	0.03
R1706:Sema5b	UTSW	16	35649755	missense	probably damaging	0.98
R1733:Sema5b	UTSW	16	35646367	missense	probably damaging	1.00
R1775:Sema5b	UTSW	16	35660324	missense	probably benign
R2215:Sema5b	UTSW	16	35660215	missense	probably damaging	1.00
R2844:Sema5b	UTSW	16	35659931	missense	probably damaging	0.98
R3086:Sema5b	UTSW	16	35622723	missense	probably benign
R3613:Sema5b	UTSW	16	35660150	missense	probably benign
R4774:Sema5b	UTSW	16	35663182	missense	probably damaging	1.00
R5743:Sema5b	UTSW	16	35658476	missense	probably damaging	1.00
R5856:Sema5b	UTSW	16	35646386	nonsense	probably null
R5993:Sema5b	UTSW	16	35646202	missense	probably damaging	1.00
R6420:Sema5b	UTSW	16	35663146	missense	probably benign	0.08
R6795:Sema5b	UTSW	16	35658571	nonsense	probably null
R6825:Sema5b	UTSW	16	35628007	splice site	probably null
R7066:Sema5b	UTSW	16	35651312	missense	probably benign	0.26
R7244:Sema5b	UTSW	16	35660545	missense	probably benign
R7446:Sema5b	UTSW	16	35647203	missense	probably damaging	1.00
R7497:Sema5b	UTSW	16	35661330	missense	probably damaging	1.00
R7516:Sema5b	UTSW	16	35651170	missense	probably benign	0.05
R7878:Sema5b	UTSW	16	35661626	missense	probably benign	0.00
R7922:Sema5b	UTSW	16	35658256	frame shift	probably null
R8397:Sema5b	UTSW	16	35651321	missense	possibly damaging	0.59
R8537:Sema5b	UTSW	16	35651609	missense	possibly damaging	0.49
R8929:Sema5b	UTSW	16	35647367	intron	probably benign
R9262:Sema5b	UTSW	16	35632853	missense	possibly damaging	0.57
R9389:Sema5b	UTSW	16	35645722	missense	probably damaging	1.00
R9579:Sema5b	UTSW	16	35647212	missense	probably benign	0.01
R9623:Sema5b	UTSW	16	35622751	missense	possibly damaging	0.74
Z1088:Sema5b	UTSW	16	35660590	missense	probably damaging	0.99
Z1176:Sema5b	UTSW	16	35628018	missense	probably benign	0.01
Z1176:Sema5b	UTSW	16	35646273	missense	probably benign	0.05
Z1176:Sema5b	UTSW	16	35649864	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AATCCCTGAGGTCAGAAGGC -3'
(R):5'- AGTACAGACAGGGCCTGGTATG -3'

Sequencing Primer
(F):5'- TCAGAAGGCTGGCTGCTCAC -3'
(R):5'- CTCGAGATCAGTGTGGATACTCATC -3'

Posted On

2018-02-28