Mutagenetix > Incidental Mutation

Incidental Mutation 'R4598:Sema7a'

345365

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

041814-MU

Accession Numbers

Essential gene?

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

Stock #

R4598 (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 57860834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 65 (D65G)

Ref Sequence

ENSEMBL: ENSMUSP00000042211 (fasta)

Gene Model

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

AlphaFold

Q9QUR8

Predicted Effect

probably benign
Transcript: ENSMUST00000043059
AA Change: D65G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042211
Gene: ENSMUSG00000038264
AA Change: D65G

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,818,188 (GRCm39)		probably null	Het
Abca14	T	C	7: 119,854,626 (GRCm39)	V930A	probably benign	Het
Abcb7	A	C	X: 103,366,988 (GRCm39)	D135E	probably benign	Het
Ace	T	A	11: 105,872,585 (GRCm39)		probably null	Het
Acnat1	T	C	4: 49,450,781 (GRCm39)	D110G	probably benign	Het
Ak9	C	T	10: 41,259,907 (GRCm39)	P862S	probably damaging	Het
Atp1a3	A	G	7: 24,678,766 (GRCm39)	S972P	probably damaging	Het
Bmf	C	A	2: 118,379,609 (GRCm39)	A56S	probably benign	Het
C6	T	C	15: 4,792,852 (GRCm39)	L319P	possibly damaging	Het
Cab39	A	G	1: 85,776,050 (GRCm39)	Y249C	probably damaging	Het
Cdc14b	T	C	13: 64,395,088 (GRCm39)	T69A	probably benign	Het
Cep162	A	G	9: 87,085,848 (GRCm39)	Y1159H	possibly damaging	Het
Chrna7	A	G	7: 62,753,538 (GRCm39)	M327T	probably damaging	Het
Clca3a2	A	T	3: 144,511,444 (GRCm39)	N41K	probably damaging	Het
Clock	T	C	5: 76,383,657 (GRCm39)	M499V	probably benign	Het
Col5a3	A	G	9: 20,685,855 (GRCm39)		probably null	Het
Coq6	T	C	12: 84,408,913 (GRCm39)	V30A	probably benign	Het
Cyp3a57	A	G	5: 145,327,227 (GRCm39)	I473V	probably benign	Het
D430041D05Rik	A	T	2: 104,038,528 (GRCm39)	V1547D	probably damaging	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,189,536 (GRCm39)	Y1545F	probably damaging	Het
Eif4e3	T	A	6: 99,617,671 (GRCm39)	I67L	probably benign	Het
Epor	A	G	9: 21,873,155 (GRCm39)	S86P	probably benign	Het
Esp31	T	A	17: 38,952,012 (GRCm39)		probably null	Het
Esrp2	A	G	8: 106,859,343 (GRCm39)	M498T	probably damaging	Het
F5	T	C	1: 164,032,366 (GRCm39)	I1771T	probably benign	Het
Fancd2	C	A	6: 113,562,438 (GRCm39)	H1259Q	probably benign	Het
Gale	C	A	4: 135,695,148 (GRCm39)	S341*	probably null	Het
Ints12	T	A	3: 132,804,214 (GRCm39)	I67N	probably benign	Het
Kat2b	A	G	17: 53,977,826 (GRCm39)	Y791C	probably benign	Het
Kazn	A	G	4: 141,937,403 (GRCm39)	V108A	possibly damaging	Het
Kcnma1	T	C	14: 23,853,228 (GRCm39)	T109A	probably damaging	Het
Med13	T	C	11: 86,169,392 (GRCm39)	T1955A	probably damaging	Het
Megf10	G	A	18: 57,322,675 (GRCm39)		probably null	Het
Megf10	A	T	18: 57,420,884 (GRCm39)	S841C	probably damaging	Het
Mep1a	A	G	17: 43,802,469 (GRCm39)		probably null	Het
Mrap2	A	T	9: 87,064,842 (GRCm39)	E194D	probably damaging	Het
Msh2	A	G	17: 88,016,006 (GRCm39)	K546R	probably damaging	Het
Ndc80	T	C	17: 71,828,063 (GRCm39)	D88G	probably damaging	Het
Nrip1	A	G	16: 76,089,968 (GRCm39)	F530L	probably damaging	Het
Or2y10	T	C	11: 49,455,545 (GRCm39)	S266P	probably damaging	Het
Or52e7	A	C	7: 104,685,280 (GRCm39)	I292L	probably benign	Het
Or6c216	T	C	10: 129,678,864 (GRCm39)	T16A	possibly damaging	Het
Or9i16	A	T	19: 13,865,381 (GRCm39)	H64Q	probably damaging	Het
Oxtr	C	T	6: 112,466,713 (GRCm39)	G16R	probably benign	Het
Pdgfrb	A	T	18: 61,201,829 (GRCm39)	K464N	probably benign	Het
Pja2	A	T	17: 64,620,025 (GRCm39)	M1K	probably null	Het
Pkhd1	A	T	1: 20,573,280 (GRCm39)	N1875K	probably damaging	Het
Pogz	T	C	3: 94,787,491 (GRCm39)	S1360P	possibly damaging	Het
Proc	A	T	18: 32,256,512 (GRCm39)	L385Q	probably damaging	Het
Ptprm	A	G	17: 67,402,492 (GRCm39)	I132T	probably benign	Het
Rpgr	A	G	X: 10,062,255 (GRCm39)	S343P	probably benign	Het
Rsu1	T	C	2: 13,174,815 (GRCm39)	Y225C	probably damaging	Het
Scyl1	A	G	19: 5,820,481 (GRCm39)	S118P	probably damaging	Het
Sec61a1	T	C	6: 88,483,131 (GRCm39)	N414D	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc25a45	A	G	19: 5,934,464 (GRCm39)	Y144C	probably damaging	Het
Slc26a6	A	G	9: 108,733,579 (GRCm39)	Y103C	probably damaging	Het
Stat3	C	T	11: 100,794,500 (GRCm39)	D270N	probably damaging	Het
Taar8b	T	C	10: 23,967,736 (GRCm39)	S153G	probably benign	Het
Top1	A	G	2: 160,562,885 (GRCm39)	E697G	possibly damaging	Het
Trappc11	G	A	8: 47,966,801 (GRCm39)	T470I	probably damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Usp29	A	G	7: 6,965,479 (GRCm39)	T441A	probably benign	Het
Vmn2r110	A	T	17: 20,804,029 (GRCm39)	L182*	probably null	Het
Zgrf1	T	C	3: 127,394,679 (GRCm39)	I1345T	probably benign	Het
Zscan25	G	T	5: 145,227,815 (GRCm39)	R493L	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
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

Predicted Primers

PCR Primer
(F):5'- GGGCATTCCTTACTTCTCAGG -3'
(R):5'- GAAAGATGTGCCAGCTCCTTC -3'

Sequencing Primer
(F):5'- TTCTCAGGTCCACCTACACCAG -3'
(R):5'- CGTAAGGGCCGTCAGTAGGAC -3'

Posted On

2015-09-25