Mutagenetix > Incidental Mutation

Incidental Mutation 'R9236:Sema7a'

700491

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

Accession Numbers

Essential gene?

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

Stock #

R9236 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57847395-57870148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57862408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 204 (I204F)

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: I204F

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

SMART Domains

Protein: ENSMUSP00000042211
Gene: ENSMUSG00000038264
AA Change: I204F

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,626,712 (GRCm39)	T1514A	probably benign	Het
Abcb1b	G	A	5: 8,874,893 (GRCm39)		probably null	Het
Adam12	A	C	7: 133,614,022 (GRCm39)	L109R	probably benign	Het
Adgre1	T	A	17: 57,709,782 (GRCm39)	Y146*	probably null	Het
Ap5m1	G	T	14: 49,311,064 (GRCm39)	V45L	probably benign	Het
Bpifa5	A	T	2: 154,006,150 (GRCm39)	I113F	probably damaging	Het
Cacna1h	A	T	17: 25,600,424 (GRCm39)	M1639K	probably damaging	Het
Celsr1	T	C	15: 85,915,051 (GRCm39)	E974G	probably damaging	Het
Cfap251	T	C	5: 123,428,125 (GRCm39)	C980R	probably damaging	Het
Cggbp1	C	T	16: 64,676,318 (GRCm39)	A128V	probably benign	Het
Col7a1	G	T	9: 108,789,684 (GRCm39)	R898L	unknown	Het
Cycs	C	T	6: 50,543,507 (GRCm39)		probably benign	Het
Cyp2c54	A	T	19: 40,060,938 (GRCm39)	Y68*	probably null	Het
Dock9	T	C	14: 121,876,970 (GRCm39)	D467G	probably damaging	Het
Eif2s1	A	T	12: 78,921,343 (GRCm39)	I83L	probably benign	Het
Eppk1	T	A	15: 75,990,510 (GRCm39)	R2124*	probably null	Het
Fkbp15	G	C	4: 62,254,664 (GRCm39)	L279V	probably damaging	Het
Fndc1	A	G	17: 7,992,460 (GRCm39)	V412A	unknown	Het
Gfap	A	G	11: 102,786,327 (GRCm39)	I194T	probably damaging	Het
Gpatch2	C	A	1: 186,965,977 (GRCm39)	T350K	probably benign	Het
Hecw1	C	T	13: 14,490,643 (GRCm39)	G783D	possibly damaging	Het
Hipk1	A	T	3: 103,671,789 (GRCm39)	W437R	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hr	C	T	14: 70,809,396 (GRCm39)	P1136S	probably damaging	Het
Il1rl2	T	A	1: 40,368,221 (GRCm39)	N130K	probably damaging	Het
Kif13b	A	G	14: 64,982,383 (GRCm39)	I532V	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lrba	T	A	3: 86,261,066 (GRCm39)	I1474K	probably benign	Het
Luc7l3	T	C	11: 94,186,772 (GRCm39)	E371G	unknown	Het
Myo5b	T	A	18: 74,853,934 (GRCm39)	D1184E	probably benign	Het
N4bp2l2	T	C	5: 150,585,734 (GRCm39)	H82R	probably benign	Het
N4bp2l2	A	G	5: 150,585,479 (GRCm39)	M167T	probably benign	Het
Ndufaf1	T	C	2: 119,490,712 (GRCm39)	E118G	possibly damaging	Het
Nedd9	A	T	13: 41,492,153 (GRCm39)	V119E	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Ntmt1	T	A	2: 30,712,407 (GRCm39)	L150Q	probably damaging	Het
Or5b99	G	T	19: 12,976,763 (GRCm39)	V138F	probably damaging	Het
Or7g21	A	G	9: 19,033,206 (GRCm39)	*315W	probably null	Het
Or8b40	A	T	9: 38,027,496 (GRCm39)	M140L	possibly damaging	Het
Or8h7	C	T	2: 86,720,622 (GRCm39)	S299N	probably benign	Het
Osbpl8	A	G	10: 111,106,496 (GRCm39)	N301S	probably benign	Het
Pgm5	A	T	19: 24,839,003 (GRCm39)	S51T	probably benign	Het
Pitx2	A	G	3: 129,009,345 (GRCm39)	K88R	probably damaging	Het
Pnma8b	A	T	7: 16,679,964 (GRCm39)	D316V	unknown	Het
Pop1	C	A	15: 34,499,558 (GRCm39)	P41Q	probably damaging	Het
Rcor1	A	C	12: 111,070,080 (GRCm39)	K292N		Het
Rps6kc1	C	T	1: 190,532,200 (GRCm39)	D601N	probably damaging	Het
Slc29a4	T	C	5: 142,698,702 (GRCm39)	L121P	probably damaging	Het
Slc4a2	A	G	5: 24,644,308 (GRCm39)	T983A	probably benign	Het
Slc4a4	C	T	5: 89,194,158 (GRCm39)	R213*	probably null	Het
Tbc1d2	G	A	4: 46,609,029 (GRCm39)	T736I	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Trip12	A	C	1: 84,703,550 (GRCm39)	L1895R	probably damaging	Het
Ttc41	A	T	10: 86,612,594 (GRCm39)	Y1289F	probably damaging	Het
Vmn1r70	G	A	7: 10,368,016 (GRCm39)	C168Y	probably damaging	Het
Vtcn1	C	A	3: 100,795,533 (GRCm39)	R167S	probably benign	Het
Zfp369	G	A	13: 65,445,010 (GRCm39)	V718I	probably benign	Het
Zfp608	T	C	18: 55,032,354 (GRCm39)	T529A	probably benign	Het
Zfp936	A	G	7: 42,836,922 (GRCm39)	N46D	probably benign	Het
Zfp974	A	G	7: 27,610,342 (GRCm39)	V461A	possibly damaging	Het
Zgrf1	A	G	3: 127,378,312 (GRCm39)	N1024S	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
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
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'- GTTCTGTTTGAAGGTAGAACAGC -3'
(R):5'- ACTCCTCAGAGCTGACTGTTC -3'

Sequencing Primer
(F):5'- CTGTTTGAAGGTAGAACAGCATTGG -3'
(R):5'- AGCTGACTGTTCAGATTTGTGC -3'

Posted On

2022-02-07