Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00672:Sema5a'

13960

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 #

IGL00672

Quality Score

Status

Chromosome

Chromosomal Location

32244959-32696487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32619026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 518 (E518G)

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: E518G

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: E518G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228442

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,657,736 (GRCm39)		probably benign	Het
Adamts20	A	G	15: 94,238,986 (GRCm39)	I744T	probably damaging	Het
Akap11	G	A	14: 78,748,781 (GRCm39)	A1202V	probably damaging	Het
C130032M10Rik	A	G	9: 114,344,898 (GRCm39)	V340A	probably damaging	Het
Csnk1g1	G	T	9: 65,915,028 (GRCm39)	S229I	probably damaging	Het
E130308A19Rik	A	G	4: 59,719,697 (GRCm39)	S410G	probably benign	Het
Eif2s2	T	A	2: 154,729,629 (GRCm39)	I98L	probably benign	Het
En1	T	C	1: 120,534,667 (GRCm39)	F319L	unknown	Het
Fmnl3	A	T	15: 99,223,562 (GRCm39)	Y345N	probably damaging	Het
Fras1	T	C	5: 96,907,309 (GRCm39)		probably benign	Het
Gm12695	A	G	4: 96,637,419 (GRCm39)	L366P	probably damaging	Het
Golga3	T	C	5: 110,360,110 (GRCm39)	L1156S	probably damaging	Het
Gpcpd1	G	T	2: 132,372,468 (GRCm39)		probably benign	Het
Hvcn1	C	A	5: 122,376,534 (GRCm39)	F155L	probably benign	Het
Jcad	T	C	18: 4,674,835 (GRCm39)	S866P	possibly damaging	Het
Kdm4c	A	G	4: 74,261,751 (GRCm39)	N642S	probably benign	Het
Kif2c	T	C	4: 117,035,443 (GRCm39)	I2V	probably benign	Het
Klri2	T	A	6: 129,710,034 (GRCm39)	I189F	probably damaging	Het
Lair1	T	A	7: 4,031,730 (GRCm39)	T126S	probably benign	Het
Lins1	A	T	7: 66,364,279 (GRCm39)	K725*	probably null	Het
Lman2l	T	A	1: 36,477,915 (GRCm39)		probably null	Het
Map3k10	T	C	7: 27,361,026 (GRCm39)	K496E	probably damaging	Het
Nr2f2	A	G	7: 70,007,514 (GRCm39)	S170P	possibly damaging	Het
Polr1b	G	A	2: 128,967,392 (GRCm39)	M928I	probably damaging	Het
Rffl	G	A	11: 82,709,310 (GRCm39)	P38S	probably damaging	Het
Rtl1	T	C	12: 109,559,434 (GRCm39)	S802G	probably benign	Het
Smdt1	G	A	15: 82,230,384 (GRCm39)	V34I	possibly damaging	Het
Ssr3	C	A	3: 65,298,831 (GRCm39)	A59S	probably benign	Het
Stk4	A	G	2: 163,959,999 (GRCm39)	K59E	probably benign	Het
Syne2	C	T	12: 76,110,958 (GRCm39)	T1024M	probably damaging	Het
Taf5	A	T	19: 47,070,740 (GRCm39)	D723V	probably damaging	Het
Tescl	T	C	7: 24,033,035 (GRCm39)	T97A	probably benign	Het
Thada	A	T	17: 84,751,646 (GRCm39)	S443R	probably benign	Het
Trp53bp2	A	T	1: 182,268,541 (GRCm39)	H205L	probably benign	Het
Ube4b	A	G	4: 149,465,823 (GRCm39)	V209A	probably benign	Het
Zfp957	G	T	14: 79,450,838 (GRCm39)	D320E	unknown	Het
Zfr2	T	C	10: 81,077,919 (GRCm39)	S249P	probably damaging	Het
Zmpste24	A	G	4: 120,923,057 (GRCm39)	I386T	probably damaging	Het

Other mutations in Sema5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL01970:Sema5a	APN	15	32,686,792 (GRCm39)	missense	probably benign	0.02
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

2012-12-06