Mutagenetix > Incidental Mutation

Incidental Mutation 'R7922:Sema5b'

648485

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7922 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

35541145-35664732 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCAC to GC at 35658256 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,164,406	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 68,949,996		probably null	Het
Abi3	A	T	11: 95,832,793	Y342N	unknown	Het
Adk	G	A	14: 21,318,043	V195I	probably benign	Het
Ago2	C	T	15: 73,126,526	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,999,753	I1077V	probably benign	Het
Arap1	A	T	7: 101,404,414	K1317*	probably null	Het
Auts2	T	A	5: 131,440,373	D493V		Het
Baz1b	A	T	5: 135,231,679	Q1110L	probably damaging	Het
Brsk2	T	A	7: 141,993,220	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,274,884	M511K	probably benign	Het
Cdh23	T	A	10: 60,382,706	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,403,980	L427V	unknown	Het
Cnga1	A	G	5: 72,604,882	F430L	possibly damaging	Het
Dnhd1	A	T	7: 105,668,514	D472V	probably damaging	Het
Dock2	T	A	11: 34,707,327	E339V	probably benign	Het
Eif3a	A	T	19: 60,775,842	V379E	probably damaging	Het
Erich4	T	A	7: 25,615,743	N36Y	probably damaging	Het
Fam60a	T	A	6: 148,926,146	T125S	probably benign	Het
Frem2	T	C	3: 53,653,304	T1261A	probably damaging	Het
Fzd6	A	T	15: 39,031,108	D223V	probably damaging	Het
Gabra2	A	T	5: 71,007,972	Y218*	probably null	Het
Gcn1l1	G	T	5: 115,614,468	M2177I	probably benign	Het
Ghr	G	A	15: 3,341,074	T103I	possibly damaging	Het
Gipc1	T	C	8: 83,661,228	V79A	probably benign	Het
Gm10031	A	T	1: 156,524,992	L254F	probably damaging	Het
Gm13272	T	A	4: 88,780,340	V164D	probably damaging	Het
Gramd4	C	A	15: 86,131,958	H503Q	probably benign	Het
Gstm4	A	T	3: 108,044,671	M1K	probably null	Het
Heatr5b	T	A	17: 78,760,559	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,790,195	K826*	probably null	Het
Hoxa9	T	C	6: 52,224,309	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,674,366	I46F	possibly damaging	Het
Ints2	T	A	11: 86,244,627	R320S	probably benign	Het
Iscu	A	T	5: 113,774,282	N46I	probably damaging	Het
Iscu	G	A	5: 113,774,349	R60Q	unknown	Het
Kcnk3	A	T	5: 30,588,531	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,842,860	S1228R	unknown	Het
Mbl2	T	A	19: 30,239,238	L150Q	probably damaging	Het
Med13	A	T	11: 86,271,005	F2166Y	probably damaging	Het
Mterf4	A	C	1: 93,301,553	L246*	probably null	Het
Muc16	T	C	9: 18,584,825	Q6690R	probably benign	Het
Myh10	T	A	11: 68,808,893	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,327,628	M237V	probably benign	Het
Olfml1	A	G	7: 107,571,149	Y81C	probably damaging	Het
Olfr735	A	G	14: 50,346,415	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,716,173	N411I	probably benign	Het
Pcdhgb8	T	C	18: 37,763,949	F691L	probably benign	Het
Pik3c2a	A	G	7: 116,391,282	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,533,875	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,849,013	H2250Y		Het
Pkd1l1	A	G	11: 8,909,857	S1034P		Het
Plcd1	C	A	9: 119,074,652	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 20,954,617	T58A	probably benign	Het
Ppp5c	T	C	7: 17,027,800	E5G	possibly damaging	Het
Pradc1	A	C	6: 85,447,968	F82L	probably benign	Het
Prkag3	A	T	1: 74,741,257	S416R	probably benign	Het
Rab3gap2	T	C	1: 185,249,920	C390R	probably benign	Het
Rhot1	A	G	11: 80,265,803	T655A	probably benign	Het
Rorc	A	G	3: 94,391,188	I348V	probably damaging	Het
Ryr1	A	T	7: 29,097,224	V1051E	probably benign	Het
Serpinb3c	G	A	1: 107,272,014	T259I	probably damaging	Het
Sh3gl1	A	T	17: 56,019,438	M70K	probably damaging	Het
Slc7a4	C	T	16: 17,573,366	V607I	probably benign	Het
Spop	A	T	11: 95,471,328	N62Y	probably damaging	Het
Spout1	A	G	2: 30,176,811	F130S	probably benign	Het
Tab1	A	G	15: 80,158,865	H420R	possibly damaging	Het
Tecpr2	CA	C	12: 110,932,642		probably null	Het
Tnxb	G	C	17: 34,714,603	K2332N	probably damaging	Het
Togaram1	T	C	12: 64,967,738	Y588H	probably damaging	Het
Trim71	G	A	9: 114,513,085	R710C	probably damaging	Het
Tsen54	C	T	11: 115,820,782	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812	N235K	unknown	Het
Utrn	C	A	10: 12,667,527	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 21,133,662	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 20,167,711	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,524,683	R369W	probably damaging	Het
Vwa7	G	T	17: 35,024,433	A717S	possibly damaging	Het
Zc3h4	T	A	7: 16,425,722	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,875	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,381,537	V415D	possibly damaging	Het
Zfp553	A	G	7: 127,236,596	H441R	probably 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
R6248:Sema5b	UTSW	16	35628007	splice site	probably null
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
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'- CCAGCATAGAAAGAGGTGCC -3'
(R):5'- TCACACGGTTTCCATGGTGAC -3'

Sequencing Primer
(F):5'- CCACAGTGGGGTTGTCCAG -3'
(R):5'- TCGTACCTGCAGACTCATATAAGGG -3'

Posted On

2020-09-15