Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02115:Sema7a'

280356

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

IGL02115

Quality Score

Status

Chromosome

Chromosomal Location

57847395-57870148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57868183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 539 (C539R)

Ref Sequence

ENSEMBL: ENSMUSP00000042211 (fasta)

Gene Model

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

AlphaFold

Q9QUR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000043059
AA Change: C539R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042211
Gene: ENSMUSG00000038264
AA Change: C539R

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

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 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	A	T	7: 124,930,781 (GRCm39)		noncoding transcript	Het
Abca7	A	T	10: 79,833,913 (GRCm39)	N76Y	probably damaging	Het
Apob	A	G	12: 8,042,923 (GRCm39)	K755R	probably benign	Het
BC034090	A	T	1: 155,108,397 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,680,635 (GRCm39)	T632A	probably benign	Het
Cdcp1	C	A	9: 123,014,462 (GRCm39)	C104F	probably damaging	Het
Cfap206	C	T	4: 34,722,623 (GRCm39)	V153I	possibly damaging	Het
Chd1l	A	T	3: 97,497,220 (GRCm39)		probably null	Het
Ckb	A	G	12: 111,636,415 (GRCm39)	F271L	possibly damaging	Het
Col6a3	T	A	1: 90,735,373 (GRCm39)	I759L	probably damaging	Het
Ddr2	A	T	1: 169,822,278 (GRCm39)	M390K	probably benign	Het
Dhx8	C	T	11: 101,643,214 (GRCm39)	P762L	probably damaging	Het
Dnah3	A	T	7: 119,628,277 (GRCm39)	V1449E	probably damaging	Het
Dzip3	T	C	16: 48,768,848 (GRCm39)	I629M	probably benign	Het
Ep300	T	C	15: 81,533,019 (GRCm39)	I1692T	unknown	Het
Ercc6	T	A	14: 32,298,950 (GRCm39)	L1446Q	probably damaging	Het
Gm10092	T	C	16: 35,957,993 (GRCm39)		noncoding transcript	Het
Gm6900	A	T	7: 10,390,503 (GRCm39)		noncoding transcript	Het
Gpr149	T	C	3: 62,502,336 (GRCm39)	T507A	probably benign	Het
Hmcn1	T	A	1: 150,506,479 (GRCm39)	D3776V	probably damaging	Het
Irgm2	A	G	11: 58,110,948 (GRCm39)	E225G	probably benign	Het
Kif14	T	C	1: 136,424,305 (GRCm39)		probably benign	Het
Klhl22	T	C	16: 17,594,459 (GRCm39)	V196A	probably damaging	Het
Lig4	T	C	8: 10,023,247 (GRCm39)	S178G	possibly damaging	Het
Lzts2	A	G	19: 45,014,809 (GRCm39)		probably benign	Het
Mcoln3	C	T	3: 145,843,056 (GRCm39)	S380L	probably damaging	Het
Med12l	A	T	3: 58,975,740 (GRCm39)	T223S	probably benign	Het
Mrpl54	A	G	10: 81,101,483 (GRCm39)		probably null	Het
Myo1c	A	T	11: 75,552,417 (GRCm39)	I397F	probably damaging	Het
Nbas	A	T	12: 13,367,693 (GRCm39)		probably benign	Het
Ncoa2	G	A	1: 13,223,041 (GRCm39)	H1195Y	probably damaging	Het
Nol3	A	G	8: 106,006,263 (GRCm39)	M171V	probably benign	Het
Or2l5	A	T	16: 19,333,853 (GRCm39)	C178S	probably damaging	Het
Or52s1	A	G	7: 102,861,681 (GRCm39)	T194A	probably damaging	Het
Pdpr	C	T	8: 111,830,630 (GRCm39)	L107F	probably damaging	Het
Ppfibp2	G	A	7: 107,338,525 (GRCm39)		probably benign	Het
Rusc2	T	C	4: 43,426,136 (GRCm39)		probably benign	Het
Sdk2	G	T	11: 113,725,639 (GRCm39)		probably benign	Het
Senp6	T	C	9: 80,029,208 (GRCm39)	C524R	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slc15a1	A	T	14: 121,718,073 (GRCm39)	Y269N	possibly damaging	Het
Synj2	T	A	17: 6,067,865 (GRCm39)	Y113N	probably damaging	Het
Tm6sf1	A	T	7: 81,525,551 (GRCm39)	Y172F	probably damaging	Het
Trpv4	T	C	5: 114,763,090 (GRCm39)	D773G	probably damaging	Het
Ttc39a	A	G	4: 109,283,491 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,676 (GRCm39)	R588W	probably damaging	Het
Unc79	A	T	12: 102,964,933 (GRCm39)	Y74F	probably damaging	Het
Usp53	A	T	3: 122,741,039 (GRCm39)	I737K	probably benign	Het
Vmn2r67	A	T	7: 84,800,787 (GRCm39)	M383K	probably damaging	Het
Zc3h4	A	G	7: 16,159,708 (GRCm39)	D426G	unknown	Het
Zfp622	A	G	15: 25,987,286 (GRCm39)	N308S	probably damaging	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
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
R5514:Sema7a	UTSW	9	57,863,046 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16