Mutagenetix > Incidental Mutation

Incidental Mutation 'R9340:Sema4f'

707439

Institutional Source

Beutler Lab

Gene Symbol

Sema4f

Ensembl Gene

ENSMUSG00000000627

Gene Name

sema domain, immunoglobulin domain (Ig), TM domain, and short cytoplasmic domain

Synonyms

Sema W

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9340 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82888865-82916724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 82890890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 639 (G639V)

Ref Sequence

ENSEMBL: ENSMUSP00000000641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000641] [ENSMUST00000203271]

AlphaFold

Q9Z123

Predicted Effect

probably damaging
Transcript: ENSMUST00000000641
AA Change: G639V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000641
Gene: ENSMUSG00000000627
AA Change: G639V

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Sema	71	502	2.23e-170	SMART
PSI	518	569	2.64e-12	SMART
Blast:Sema	607	656	5e-20	BLAST
transmembrane domain	665	687	N/A	INTRINSIC
low complexity region	722	735	N/A	INTRINSIC
low complexity region	743	751	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203271

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of semaphorin family of membrane-bound and secreted proteins that are involved in guiding axonal growth. The encoded protein is a transmembrane protein localized to the glutamatergic synapses via its association with a synapse-associated scaffolding protein. In oligodendrocyte precursor cells, the encoded protein contributes to the outward migration and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 61,001,647 (GRCm39)	M58L	probably benign	Het
Abca8b	A	G	11: 109,840,939 (GRCm39)	V1078A	probably benign	Het
Acvr2b	A	G	9: 119,257,492 (GRCm39)	D175G	probably damaging	Het
Adad2	A	G	8: 120,339,769 (GRCm39)	M84V	probably benign	Het
Ahnak	A	T	19: 8,994,411 (GRCm39)	M5232L	probably benign	Het
Ahsa1	T	C	12: 87,315,053 (GRCm39)	S69P	probably damaging	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Antxr2	G	T	5: 98,086,306 (GRCm39)	P434T	probably damaging	Het
Arap1	T	C	7: 101,037,382 (GRCm39)	Y470H	probably damaging	Het
Baz1a	A	G	12: 54,963,372 (GRCm39)	I907T	probably damaging	Het
Baz1b	A	T	5: 135,246,729 (GRCm39)	Q726L	probably benign	Het
Bcar3	C	T	3: 122,298,462 (GRCm39)		probably benign	Het
Bean1	C	T	8: 104,908,739 (GRCm39)	R39C	probably damaging	Het
Cass4	A	T	2: 172,268,686 (GRCm39)	N256I	possibly damaging	Het
Cnot10	T	C	9: 114,460,897 (GRCm39)	K91R	probably benign	Het
Col6a6	C	T	9: 105,651,757 (GRCm39)	V1085M	probably damaging	Het
Dpf3	A	G	12: 83,534,449 (GRCm39)		probably null	Het
Dync1i2	T	A	2: 71,093,019 (GRCm39)	W605R	probably damaging	Het
Exoc5	A	T	14: 49,286,297 (GRCm39)	V110E	probably damaging	Het
Fgfr2	T	A	7: 129,782,136 (GRCm39)	H563L	probably damaging	Het
Fosl2	A	G	5: 32,304,379 (GRCm39)	T105A	probably benign	Het
Fsip2	A	G	2: 82,818,604 (GRCm39)	H4779R	possibly damaging	Het
Fuca2	A	G	10: 13,382,518 (GRCm39)	Y268C	probably damaging	Het
Galnt13	G	A	2: 54,770,161 (GRCm39)	E318K	probably damaging	Het
Hc	G	A	2: 34,876,294 (GRCm39)	T1584I	probably damaging	Het
Helb	T	C	10: 119,928,556 (GRCm39)	K762E	probably damaging	Het
Hspg2	T	G	4: 137,296,827 (GRCm39)	L4335R	probably damaging	Het
Ift88	A	C	14: 57,718,920 (GRCm39)	Q635P	probably damaging	Het
Inpp5a	C	A	7: 138,969,380 (GRCm39)	D25E	probably benign	Het
Kcnu1	A	G	8: 26,376,786 (GRCm39)	T387A	possibly damaging	Het
Lamb1	G	A	12: 31,374,223 (GRCm39)	D1529N	probably benign	Het
Lamb1	A	T	12: 31,374,224 (GRCm39)	D1529V	probably benign	Het
Lnx1	T	C	5: 74,758,584 (GRCm39)	N476S	probably benign	Het
Mup17	T	C	4: 61,512,633 (GRCm39)	M87V	probably benign	Het
Naip6	G	A	13: 100,452,494 (GRCm39)	T189I	probably damaging	Het
Nf1	T	A	11: 79,447,629 (GRCm39)	Y462N	possibly damaging	Het
Nup133	T	C	8: 124,664,881 (GRCm39)	D270G	probably benign	Het
Obox2	T	C	7: 15,130,789 (GRCm39)	L7S	probably damaging	Het
Obox6	A	T	7: 15,567,722 (GRCm39)	S242T	possibly damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Pigyl	C	T	9: 22,069,130 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,369,649 (GRCm39)	V891A	probably damaging	Het
Rxrg	A	G	1: 167,458,890 (GRCm39)	D292G	possibly damaging	Het
Saal1	A	G	7: 46,351,248 (GRCm39)	F243L	probably benign	Het
Sec24c	G	A	14: 20,729,598 (GRCm39)	V59M	probably benign	Het
Serpinb1c	A	T	13: 33,066,172 (GRCm39)	C258S	probably benign	Het
Snx21	CACCTGCAGGCAGTGCCAGAGCTACGCCAAGCTCCGGACCTGCAGG	CACCTGCAGG	2: 164,633,849 (GRCm39)		probably benign	Het
Syndig1	T	C	2: 149,845,175 (GRCm39)	S233P	probably damaging	Het
Taf6l	A	T	19: 8,752,636 (GRCm39)	L377M	probably damaging	Het
Tcl1	T	C	12: 105,184,979 (GRCm39)	Y77C	probably damaging	Het
Tekt2	C	A	4: 126,216,952 (GRCm39)	M272I	probably benign	Het
Trp53bp1	T	C	2: 121,100,460 (GRCm39)	E98G	probably benign	Het
Ubr4	T	A	4: 139,182,763 (GRCm39)	I383N	unknown	Het
Wdr89	G	T	12: 75,679,937 (GRCm39)	P106T	probably benign	Het
Zfp534	T	C	4: 147,758,698 (GRCm39)	E657G	possibly damaging	Het
Zfp69	T	C	4: 120,788,013 (GRCm39)	K434R	probably damaging	Het
Zfyve26	T	A	12: 79,321,680 (GRCm39)	K980*	probably null	Het

Other mutations in Sema4f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Sema4f	APN	6	82,914,155 (GRCm39)	missense	probably benign	0.00
IGL01661:Sema4f	APN	6	82,895,036 (GRCm39)	unclassified	probably benign
docking	UTSW	6	82,890,626 (GRCm39)	nonsense	probably null
flagman	UTSW	6	82,895,540 (GRCm39)	missense	probably benign	0.02
R0054:Sema4f	UTSW	6	82,896,674 (GRCm39)	splice site	probably benign
R0054:Sema4f	UTSW	6	82,896,674 (GRCm39)	splice site	probably benign
R0243:Sema4f	UTSW	6	82,916,447 (GRCm39)	missense	possibly damaging	0.87
R0692:Sema4f	UTSW	6	82,916,511 (GRCm39)	unclassified	probably benign
R0893:Sema4f	UTSW	6	82,912,948 (GRCm39)	splice site	probably benign
R1708:Sema4f	UTSW	6	82,894,975 (GRCm39)	missense	probably damaging	1.00
R1833:Sema4f	UTSW	6	82,895,540 (GRCm39)	missense	probably benign	0.02
R1867:Sema4f	UTSW	6	82,894,824 (GRCm39)	missense	possibly damaging	0.84
R1899:Sema4f	UTSW	6	82,895,010 (GRCm39)	missense	probably benign	0.00
R1933:Sema4f	UTSW	6	82,907,908 (GRCm39)	missense	probably damaging	1.00
R1934:Sema4f	UTSW	6	82,907,908 (GRCm39)	missense	probably damaging	1.00
R2433:Sema4f	UTSW	6	82,916,490 (GRCm39)	missense	possibly damaging	0.66
R3801:Sema4f	UTSW	6	82,895,608 (GRCm39)	missense	possibly damaging	0.88
R4116:Sema4f	UTSW	6	82,894,887 (GRCm39)	missense	probably benign	0.25
R4745:Sema4f	UTSW	6	82,895,265 (GRCm39)	missense	probably damaging	1.00
R5187:Sema4f	UTSW	6	82,894,631 (GRCm39)	missense	probably benign	0.45
R6015:Sema4f	UTSW	6	82,916,553 (GRCm39)	unclassified	probably benign
R6043:Sema4f	UTSW	6	82,896,634 (GRCm39)	missense	probably damaging	0.99
R6110:Sema4f	UTSW	6	82,914,085 (GRCm39)	missense	probably damaging	0.97
R6378:Sema4f	UTSW	6	82,894,613 (GRCm39)	nonsense	probably null
R6449:Sema4f	UTSW	6	82,894,851 (GRCm39)	missense	probably benign	0.09
R6452:Sema4f	UTSW	6	82,894,643 (GRCm39)	missense	probably benign	0.36
R6854:Sema4f	UTSW	6	82,894,983 (GRCm39)	missense	probably damaging	1.00
R7159:Sema4f	UTSW	6	82,894,864 (GRCm39)	missense	possibly damaging	0.63
R7475:Sema4f	UTSW	6	82,891,355 (GRCm39)	missense	possibly damaging	0.94
R7555:Sema4f	UTSW	6	82,891,037 (GRCm39)	missense	probably benign	0.01
R7780:Sema4f	UTSW	6	82,890,941 (GRCm39)	missense	possibly damaging	0.95
R8254:Sema4f	UTSW	6	82,894,382 (GRCm39)	missense	probably damaging	1.00
R8828:Sema4f	UTSW	6	82,894,874 (GRCm39)	nonsense	probably null
R8828:Sema4f	UTSW	6	82,894,873 (GRCm39)	missense	probably benign	0.02
R8862:Sema4f	UTSW	6	82,891,081 (GRCm39)	missense	probably benign	0.02
R9166:Sema4f	UTSW	6	82,890,626 (GRCm39)	nonsense	probably null
R9218:Sema4f	UTSW	6	82,890,480 (GRCm39)	missense	probably benign	0.08
R9690:Sema4f	UTSW	6	82,912,652 (GRCm39)	missense	probably damaging	1.00
X0026:Sema4f	UTSW	6	82,912,661 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AAGCCCACCTTGTCTCTAGC -3'
(R):5'- AACATCCGGTAGTGTTTGAAGTTC -3'

Sequencing Primer
(F):5'- GCCCACCTTGTCTCTAGCTAGAAG -3'
(R):5'- GAAGTTCCAGTGGCTACGG -3'

Posted On

2022-04-18