Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01970:Sema5a'

182524

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sema5a

Ensembl Gene

ENSMUSG00000022231

Gene Name

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

Synonyms

M-Sema D, semF, Semaf, 9130201M22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01970

Quality Score

Status

Chromosome

Chromosomal Location

32244959-32696487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32686792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 968 (M968T)

Ref Sequence

ENSEMBL: ENSMUSP00000069024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067458]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067458
AA Change: M968T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: M968T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Sema	58	468	2.18e-173	SMART
PSI	486	533	1.78e-9	SMART
TSP1	543	597	2.23e-1	SMART
TSP1	598	651	2.05e-15	SMART
TSP1	656	702	6.94e-13	SMART
low complexity region	707	715	N/A	INTRINSIC
low complexity region	755	771	N/A	INTRINSIC
TSP1	787	839	4.17e-16	SMART
TSP1	844	896	9.08e-17	SMART
TSP1	899	946	3.19e-3	SMART
low complexity region	949	960	N/A	INTRINSIC
transmembrane domain	971	993	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227429

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 belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for one null mutation die during organogenesis and display defects in branching of cranial vessels. Mice homozygous for another null mutation appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdk9	T	C	2: 32,598,063 (GRCm39)	H280R	possibly damaging	Het
Cenpt	C	T	8: 106,571,748 (GRCm39)	R461H	probably damaging	Het
Cpa4	A	G	6: 30,579,645 (GRCm39)	T151A	probably benign	Het
Glrb	A	G	3: 80,769,232 (GRCm39)	I165T	possibly damaging	Het
Gm17305	A	T	11: 69,255,646 (GRCm39)		probably benign	Het
Kdm5b	T	A	1: 134,528,465 (GRCm39)	S391T	probably damaging	Het
Klrg2	T	C	6: 38,613,383 (GRCm39)	K207E	probably damaging	Het
Krt1	T	C	15: 101,755,299 (GRCm39)	I487V	possibly damaging	Het
Krt27	A	G	11: 99,239,547 (GRCm39)	L311P	probably damaging	Het
Leng9	T	C	7: 4,151,326 (GRCm39)	Y450C	probably damaging	Het
Oacyl	A	T	18: 65,882,785 (GRCm39)	I627F	possibly damaging	Het
Perm1	G	T	4: 156,302,118 (GRCm39)	G221W	probably damaging	Het
Rft1	C	T	14: 30,412,492 (GRCm39)	L518F	probably benign	Het
Sdk1	A	T	5: 142,071,437 (GRCm39)	Q1209L	possibly damaging	Het
Selenbp1	A	G	3: 94,844,313 (GRCm39)	S57G	probably benign	Het
Slc16a3	G	A	11: 120,847,864 (GRCm39)	V351M	probably damaging	Het
Sorbs2	G	A	8: 46,198,840 (GRCm39)	V73I	probably damaging	Het
Specc1l	T	A	10: 75,081,595 (GRCm39)	D347E	probably damaging	Het
Tas2r116	A	C	6: 132,832,632 (GRCm39)	T78P	probably benign	Het
Tpm3	A	G	3: 89,997,135 (GRCm39)	E224G	probably damaging	Het
Trnau1ap	T	C	4: 132,041,298 (GRCm39)		probably benign	Het
Vmn2r17	T	A	5: 109,575,813 (GRCm39)	M228K	probably damaging	Het
Vnn1	T	C	10: 23,773,300 (GRCm39)	I109T	probably benign	Het
Wee1	C	A	7: 109,738,457 (GRCm39)	H523Q	probably damaging	Het
Xpr1	T	C	1: 155,165,980 (GRCm39)	N524S	probably benign	Het

Other mutations in Sema5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Sema5a	APN	15	32,619,026 (GRCm39)	missense	probably benign	0.06
IGL01148:Sema5a	APN	15	32,681,641 (GRCm39)	missense	probably benign	0.00
IGL01285:Sema5a	APN	15	32,575,143 (GRCm39)	missense	possibly damaging	0.66
IGL01647:Sema5a	APN	15	32,417,587 (GRCm39)	missense	possibly damaging	0.82
IGL01845:Sema5a	APN	15	32,474,514 (GRCm39)	splice site	probably benign
IGL01986:Sema5a	APN	15	32,682,506 (GRCm39)	splice site	probably benign
IGL02053:Sema5a	APN	15	32,550,413 (GRCm39)	missense	probably benign	0.00
IGL02234:Sema5a	APN	15	32,679,318 (GRCm39)	missense	probably damaging	1.00
IGL02325:Sema5a	APN	15	32,686,977 (GRCm39)	missense	possibly damaging	0.63
IGL02370:Sema5a	APN	15	32,682,445 (GRCm39)	splice site	probably benign
IGL02427:Sema5a	APN	15	32,673,690 (GRCm39)	splice site	probably benign
IGL02621:Sema5a	APN	15	32,538,802 (GRCm39)	splice site	probably benign
IGL02656:Sema5a	APN	15	32,631,431 (GRCm39)	missense	possibly damaging	0.95
IGL03091:Sema5a	APN	15	32,538,880 (GRCm39)	splice site	probably benign
IGL03107:Sema5a	APN	15	32,669,554 (GRCm39)	missense	probably damaging	0.98
IGL03114:Sema5a	APN	15	32,673,573 (GRCm39)	missense	probably damaging	0.99
IGL03222:Sema5a	APN	15	32,628,304 (GRCm39)	missense	probably benign	0.32
PIT4305001:Sema5a	UTSW	15	32,628,345 (GRCm39)	missense	probably benign
R0190:Sema5a	UTSW	15	32,562,920 (GRCm39)	missense	possibly damaging	0.93
R0409:Sema5a	UTSW	15	32,681,755 (GRCm39)	missense	probably damaging	1.00
R0413:Sema5a	UTSW	15	32,669,590 (GRCm39)	missense	probably damaging	1.00
R0504:Sema5a	UTSW	15	32,574,949 (GRCm39)	splice site	probably benign
R1235:Sema5a	UTSW	15	32,609,372 (GRCm39)	missense	probably benign	0.04
R1484:Sema5a	UTSW	15	32,460,431 (GRCm39)	missense	probably damaging	1.00
R1550:Sema5a	UTSW	15	32,618,995 (GRCm39)	missense	probably benign	0.00
R1557:Sema5a	UTSW	15	32,460,418 (GRCm39)	missense	probably benign	0.04
R1670:Sema5a	UTSW	15	32,548,945 (GRCm39)	missense	probably damaging	1.00
R1688:Sema5a	UTSW	15	32,669,570 (GRCm39)	missense	probably benign	0.01
R1760:Sema5a	UTSW	15	32,641,252 (GRCm39)	missense	probably damaging	0.99
R1960:Sema5a	UTSW	15	32,562,877 (GRCm39)	missense	possibly damaging	0.66
R1967:Sema5a	UTSW	15	32,681,765 (GRCm39)	missense	probably damaging	0.99
R2062:Sema5a	UTSW	15	32,609,363 (GRCm39)	splice site	probably benign
R2082:Sema5a	UTSW	15	32,619,002 (GRCm39)	missense	probably benign	0.04
R2218:Sema5a	UTSW	15	32,631,455 (GRCm39)	missense	probably damaging	0.99
R2267:Sema5a	UTSW	15	32,575,065 (GRCm39)	missense	probably benign	0.03
R2299:Sema5a	UTSW	15	32,562,922 (GRCm39)	missense	possibly damaging	0.95
R2438:Sema5a	UTSW	15	32,550,399 (GRCm39)	missense	possibly damaging	0.63
R2698:Sema5a	UTSW	15	32,673,546 (GRCm39)	missense	probably damaging	1.00
R3950:Sema5a	UTSW	15	32,689,484 (GRCm39)	missense	probably damaging	1.00
R4197:Sema5a	UTSW	15	32,619,064 (GRCm39)	missense	probably benign
R4496:Sema5a	UTSW	15	32,641,133 (GRCm39)	missense	probably damaging	1.00
R4840:Sema5a	UTSW	15	32,550,400 (GRCm39)	missense	possibly damaging	0.63
R4842:Sema5a	UTSW	15	32,609,563 (GRCm39)	missense	probably benign
R4867:Sema5a	UTSW	15	32,550,436 (GRCm39)	missense	possibly damaging	0.60
R4934:Sema5a	UTSW	15	32,679,310 (GRCm39)	missense	probably damaging	1.00
R4977:Sema5a	UTSW	15	32,679,332 (GRCm39)	missense	probably damaging	1.00
R5204:Sema5a	UTSW	15	32,686,793 (GRCm39)	missense	probably benign	0.00
R5580:Sema5a	UTSW	15	32,575,031 (GRCm39)	missense	probably benign	0.00
R5937:Sema5a	UTSW	15	32,574,987 (GRCm39)	missense	probably damaging	1.00
R6220:Sema5a	UTSW	15	32,686,875 (GRCm39)	missense	probably damaging	0.99
R6897:Sema5a	UTSW	15	32,550,421 (GRCm39)	missense	probably benign	0.05
R7037:Sema5a	UTSW	15	32,686,993 (GRCm39)	missense	probably damaging	1.00
R7072:Sema5a	UTSW	15	32,575,105 (GRCm39)	missense	possibly damaging	0.94
R7273:Sema5a	UTSW	15	32,417,608 (GRCm39)	missense	probably benign
R7572:Sema5a	UTSW	15	32,673,574 (GRCm39)	missense	probably damaging	1.00
R7621:Sema5a	UTSW	15	32,609,378 (GRCm39)	missense	possibly damaging	0.65
R7642:Sema5a	UTSW	15	32,682,471 (GRCm39)	missense	probably damaging	0.97
R7870:Sema5a	UTSW	15	32,609,485 (GRCm39)	missense	probably benign	0.23
R7880:Sema5a	UTSW	15	32,686,954 (GRCm39)	missense	probably damaging	1.00
R8025:Sema5a	UTSW	15	32,548,928 (GRCm39)	missense	probably benign	0.37
R8034:Sema5a	UTSW	15	32,574,987 (GRCm39)	missense	probably damaging	1.00
R8241:Sema5a	UTSW	15	32,575,064 (GRCm39)	missense	probably benign
R8539:Sema5a	UTSW	15	32,618,989 (GRCm39)	missense	probably damaging	0.98
R8728:Sema5a	UTSW	15	32,562,703 (GRCm39)	missense	probably damaging	0.98
R8807:Sema5a	UTSW	15	32,562,868 (GRCm39)	missense	possibly damaging	0.83
R8825:Sema5a	UTSW	15	32,689,498 (GRCm39)	missense	probably benign	0.02
R9109:Sema5a	UTSW	15	32,619,040 (GRCm39)	missense	probably benign	0.02
R9235:Sema5a	UTSW	15	32,619,034 (GRCm39)	missense	probably benign	0.01
R9298:Sema5a	UTSW	15	32,619,040 (GRCm39)	missense	probably benign	0.02
R9354:Sema5a	UTSW	15	32,562,902 (GRCm39)	nonsense	probably null
R9515:Sema5a	UTSW	15	32,679,373 (GRCm39)	missense	probably damaging	1.00
R9663:Sema5a	UTSW	15	32,673,546 (GRCm39)	nonsense	probably null
X0020:Sema5a	UTSW	15	32,417,646 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07