Mutagenetix > Incidental Mutation

Incidental Mutation 'R5514:Sema7a'

440241

Institutional Source

Beutler Lab

Gene Symbol

Sema7a

Ensembl Gene

ENSMUSG00000038264

Gene Name

sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A

Synonyms

Semal, Semaphorin K1, CDw108, 2900057C09Rik

MMRRC Submission

043074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R5514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57847395-57870148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57863046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 239 (Y239C)

Ref Sequence

ENSEMBL: ENSMUSP00000042211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043059] [ENSMUST00000214314]

AlphaFold

Q9QUR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000043059
AA Change: Y239C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042211
Gene: ENSMUSG00000038264
AA Change: Y239C

Domain	Start	End	E-Value	Type
signal peptide	1	44	N/A	INTRINSIC
Sema	72	472	4.11e-119	SMART
PSI	490	540	7.64e-9	SMART
IG	549	630	3.63e-1	SMART
transmembrane domain	644	663	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214314

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: The development of the olfactory tract is impaired in homozygous null mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	T	C	12: 21,390,520 (GRCm39)	S382G	probably damaging	Het
Agr2	G	A	12: 36,046,090 (GRCm39)	V74I	probably benign	Het
Aldh3a1	T	C	11: 61,108,867 (GRCm39)	S423P	probably damaging	Het
Ampd1	C	T	3: 102,986,488 (GRCm39)	H56Y	possibly damaging	Het
Arhgef2	C	A	3: 88,550,304 (GRCm39)	P670T	probably benign	Het
Blk	T	G	14: 63,615,930 (GRCm39)	D333A	probably damaging	Het
Bmi1	T	C	2: 18,686,714 (GRCm39)	I31T	probably damaging	Het
Cacna1d	G	A	14: 30,072,790 (GRCm39)	Q62*	probably null	Het
Ccdc88c	A	G	12: 100,879,698 (GRCm39)	S1801P	probably damaging	Het
Cdkal1	C	T	13: 29,961,270 (GRCm39)	A100T	probably damaging	Het
Cfap251	G	T	5: 123,425,829 (GRCm39)		probably null	Het
Chst4	G	T	8: 110,756,606 (GRCm39)	S419Y	probably damaging	Het
Cntn4	T	C	6: 106,649,844 (GRCm39)	I680T	probably damaging	Het
Ddx55	T	C	5: 124,694,875 (GRCm39)	V101A	probably damaging	Het
Ddx60	A	T	8: 62,411,091 (GRCm39)	E451V	probably damaging	Het
Dffa	T	A	4: 149,190,772 (GRCm39)		probably null	Het
Dgkd	A	G	1: 87,861,832 (GRCm39)	R796G	probably damaging	Het
Dzank1	T	A	2: 144,323,605 (GRCm39)	M614L	probably benign	Het
Elf2	G	T	3: 51,215,555 (GRCm39)	Q52K	probably damaging	Het
Fcamr	T	A	1: 130,741,793 (GRCm39)	L522Q	probably damaging	Het
Fscn2	T	C	11: 120,258,858 (GRCm39)	Y468H	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gm4787	A	G	12: 81,425,102 (GRCm39)	V352A	possibly damaging	Het
Gtsf1	T	C	15: 103,336,802 (GRCm39)	Q13R	probably benign	Het
Itpkb	G	A	1: 180,241,474 (GRCm39)	V715M	probably damaging	Het
Jmjd1c	T	A	10: 67,053,928 (GRCm39)	S263T	probably damaging	Het
Krba1	T	G	6: 48,390,429 (GRCm39)	L736R	probably damaging	Het
Lrrc8d	C	G	5: 105,960,650 (GRCm39)	F353L	probably damaging	Het
Lrrc8d	G	A	5: 105,960,651 (GRCm39)	E354K	probably benign	Het
Mtor	T	A	4: 148,630,901 (GRCm39)	V2286E	probably damaging	Het
Mybbp1a	T	A	11: 72,341,462 (GRCm39)	V1100E	possibly damaging	Het
Myo5a	G	A	9: 75,061,048 (GRCm39)	G518D	probably damaging	Het
Nalcn	A	T	14: 123,521,123 (GRCm39)	I1594N	probably benign	Het
Nav1	C	G	1: 135,398,299 (GRCm39)	G761A	probably benign	Het
Ncoa2	A	T	1: 13,251,445 (GRCm39)	L276H	probably damaging	Het
Ndufaf7	T	C	17: 79,245,051 (GRCm39)	Y57H	probably damaging	Het
Nfkb2	A	G	19: 46,299,847 (GRCm39)	Y807C	probably damaging	Het
Nid2	A	T	14: 19,852,535 (GRCm39)	Q1081L	probably damaging	Het
Nkain2	T	A	10: 31,827,189 (GRCm39)	I134F	probably damaging	Het
Nmu	A	C	5: 76,497,979 (GRCm39)	S69A	probably damaging	Het
Or4c15b	A	T	2: 89,112,817 (GRCm39)	I220N	probably damaging	Het
Or5t7	T	C	2: 86,507,225 (GRCm39)	I151V	probably benign	Het
Pard3	A	G	8: 128,153,086 (GRCm39)	R886G	probably damaging	Het
Pde6b	G	T	5: 108,571,317 (GRCm39)	Q423H	probably benign	Het
Pip5k1b	A	T	19: 24,327,505 (GRCm39)	D450E	probably damaging	Het
Plcg1	T	C	2: 160,595,275 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,103,246 (GRCm39)	S504P	possibly damaging	Het
Pomt2	A	T	12: 87,175,797 (GRCm39)	D312E	probably damaging	Het
Ppp1r1b	T	C	11: 98,246,228 (GRCm39)	L70P	probably damaging	Het
Prr5	C	A	15: 84,587,096 (GRCm39)	P282Q	probably benign	Het
Reln	A	T	5: 22,176,883 (GRCm39)	W1928R	possibly damaging	Het
Sacm1l	A	T	9: 123,415,419 (GRCm39)	R465*	probably null	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Svep1	T	C	4: 58,044,054 (GRCm39)	T3531A	possibly damaging	Het
Tjp1	A	T	7: 65,004,609 (GRCm39)	W19R	probably damaging	Het
Tmc2	T	A	2: 130,083,564 (GRCm39)	M507K	possibly damaging	Het
Unc13a	A	G	8: 72,095,795 (GRCm39)	Y1241H	probably damaging	Het
Upp1	C	T	11: 9,081,771 (GRCm39)	P103S	probably damaging	Het
Vldlr	A	G	19: 27,221,624 (GRCm39)	E663G	probably damaging	Het
Vmn2r68	G	A	7: 84,886,767 (GRCm39)	T49I	possibly damaging	Het
Xirp2	A	T	2: 67,335,465 (GRCm39)	M95L	probably benign	Het

Other mutations in Sema7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Sema7a	APN	9	57,863,121 (GRCm39)	missense	probably damaging	1.00
IGL01967:Sema7a	APN	9	57,863,678 (GRCm39)	missense	probably damaging	1.00
IGL02030:Sema7a	APN	9	57,862,423 (GRCm39)	missense	possibly damaging	0.91
IGL02031:Sema7a	APN	9	57,862,423 (GRCm39)	missense	possibly damaging	0.91
IGL02115:Sema7a	APN	9	57,868,183 (GRCm39)	missense	probably damaging	1.00
IGL02203:Sema7a	APN	9	57,864,889 (GRCm39)	missense	probably benign
IGL02808:Sema7a	APN	9	57,867,631 (GRCm39)	missense	probably benign	0.25
G1citation:Sema7a	UTSW	9	57,867,619 (GRCm39)	missense	probably damaging	1.00
R0531:Sema7a	UTSW	9	57,867,876 (GRCm39)	missense	possibly damaging	0.95
R1603:Sema7a	UTSW	9	57,867,959 (GRCm39)	missense	probably benign	0.18
R1845:Sema7a	UTSW	9	57,862,182 (GRCm39)	missense	possibly damaging	0.65
R4598:Sema7a	UTSW	9	57,860,834 (GRCm39)	missense	probably benign	0.04
R4903:Sema7a	UTSW	9	57,862,378 (GRCm39)	missense	probably benign	0.00
R4954:Sema7a	UTSW	9	57,863,663 (GRCm39)	missense	probably damaging	1.00
R5172:Sema7a	UTSW	9	57,864,961 (GRCm39)	missense	probably benign	0.02
R5618:Sema7a	UTSW	9	57,867,566 (GRCm39)	missense	possibly damaging	0.71
R5652:Sema7a	UTSW	9	57,867,942 (GRCm39)	missense	probably damaging	1.00
R5793:Sema7a	UTSW	9	57,867,540 (GRCm39)	missense	probably damaging	0.98
R6365:Sema7a	UTSW	9	57,862,188 (GRCm39)	missense	probably benign	0.31
R6736:Sema7a	UTSW	9	57,867,854 (GRCm39)	missense	probably damaging	1.00
R6822:Sema7a	UTSW	9	57,867,619 (GRCm39)	missense	probably damaging	1.00
R6829:Sema7a	UTSW	9	57,868,181 (GRCm39)	missense	probably benign	0.00
R7380:Sema7a	UTSW	9	57,868,847 (GRCm39)	missense	unknown
R7381:Sema7a	UTSW	9	57,860,852 (GRCm39)	missense	probably benign	0.00
R7467:Sema7a	UTSW	9	57,868,705 (GRCm39)	missense	probably damaging	1.00
R7593:Sema7a	UTSW	9	57,867,858 (GRCm39)	missense	probably benign	0.06
R7601:Sema7a	UTSW	9	57,847,560 (GRCm39)	missense	probably benign	0.14
R7879:Sema7a	UTSW	9	57,862,363 (GRCm39)	missense	probably damaging	1.00
R8360:Sema7a	UTSW	9	57,862,974 (GRCm39)	unclassified	probably benign
R9236:Sema7a	UTSW	9	57,862,408 (GRCm39)	missense	probably damaging	1.00
R9467:Sema7a	UTSW	9	57,864,608 (GRCm39)	missense	probably damaging	1.00
R9475:Sema7a	UTSW	9	57,862,188 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GCCCATGACATCTTTGTAGAGGAG -3'
(R):5'- ACCACAGTTTCATGCACGTG -3'

Sequencing Primer
(F):5'- ACATCTTTGTAGAGGAGGACATAAC -3'
(R):5'- GTGCACTCACACACACACACTC -3'

Posted On

2016-11-08