Mutagenetix > Incidental Mutations

Incidental Mutation 'R7159:Sema4f'

557496

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82911885-82939769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 82917883 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 444 (V444L)

Ref Sequence

ENSEMBL: ENSMUSP00000000641 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000641
AA Change: V444L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000000641
Gene: ENSMUSG00000000627
AA Change: V444L

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: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,730,579	V500E	possibly damaging	Het
Ankrd34b	T	C	13: 92,439,462	S401P	probably benign	Het
Arfgef2	T	A	2: 166,826,928	D41E	probably benign	Het
Arid1a	T	C	4: 133,753,568	N15S	unknown	Het
Arsa	A	T	15: 89,474,718		probably null	Het
B3gnt9	C	A	8: 105,254,432	C108F	probably damaging	Het
Bbc3	C	A	7: 16,313,808	Y152*	probably null	Het
Btbd1	T	C	7: 81,818,209	M188V	probably benign	Het
Caln1	C	T	5: 130,822,997	T209I	probably benign	Het
Casp12	C	T	9: 5,353,763	P266S	possibly damaging	Het
Ccm2l	A	T	2: 153,070,867	I109F	probably damaging	Het
Chst15	A	C	7: 132,270,258	L98R	probably damaging	Het
Ctsq	A	G	13: 61,038,923	M89T	probably benign	Het
Ddx39b	T	C	17: 35,247,010	V169A	probably benign	Het
Ddx58	A	G	4: 40,213,804	V618A	probably benign	Het
Fam57b	T	C	7: 126,827,495	F80S	probably damaging	Het
Fhad1	T	C	4: 141,951,616	H583R	probably benign	Het
Fndc1	T	A	17: 7,800,931	I139F	probably damaging	Het
Gm5724	T	A	6: 141,773,778	M1L	probably damaging	Het
Gm7145	C	G	1: 117,985,831	H148D	probably benign	Het
Gpr62	C	A	9: 106,465,442	A96S	probably damaging	Het
Gsap	T	A	5: 21,270,620		probably null	Het
Hdhd5	T	A	6: 120,523,471	T89S	probably damaging	Het
Kcna5	T	A	6: 126,533,629	Y512F	probably damaging	Het
Krt84	C	A	15: 101,529,609	E304*	probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Lrp6	C	A	6: 134,507,551	V370L	probably benign	Het
Lrrc3c	G	A	11: 98,599,318	G167D	probably damaging	Het
Man2b1	C	T	8: 85,087,280	T291M	probably benign	Het
Mapkbp1	A	G	2: 120,025,132	E1438G	possibly damaging	Het
Med12l	A	G	3: 59,276,017	T1947A	probably benign	Het
Myh15	A	T	16: 49,061,574	T60S	probably damaging	Het
Myo5a	A	T	9: 75,171,563	I868F	probably benign	Het
Myom3	A	T	4: 135,808,851	I1278F	probably damaging	Het
Nbn	G	T	4: 15,983,677		probably null	Het
Ncam2	G	T	16: 81,490,374	S392I	probably damaging	Het
Nrg3	A	C	14: 38,370,735	L647*	probably null	Het
Olfr1062	T	A	2: 86,423,612		probably null	Het
Olfr1393	A	T	11: 49,280,358	D70V	probably damaging	Het
Olfr1406	A	T	1: 173,184,323	L37Q	possibly damaging	Het
Olfr721-ps1	T	C	14: 14,407,251	S8P	possibly damaging	Het
Pcdhb9	A	G	18: 37,401,492	N180D	possibly damaging	Het
Pcdhga4	A	G	18: 37,686,919	N507S	probably damaging	Het
Pdilt	A	G	7: 119,487,951	V492A	probably benign	Het
Phf12	A	G	11: 78,023,540	T603A	possibly damaging	Het
Phox2b	T	A	5: 67,097,585	I174F	probably benign	Het
Polq	A	T	16: 37,062,853	Q1793L	possibly damaging	Het
Prmt9	T	C	8: 77,555,764	F97L	probably benign	Het
Prpsap1	T	C	11: 116,494,044	E13G	probably benign	Het
Ptpru	A	G	4: 131,819,540	L280P	probably damaging	Het
Pygl	A	T	12: 70,197,406	M587K	probably benign	Het
Rc3h2	T	C	2: 37,409,647	S124G	probably benign	Het
Rdh5	A	G	10: 128,918,315	I83T	possibly damaging	Het
Ryr2	T	G	13: 11,810,908	R561S	probably damaging	Het
Scara3	A	G	14: 65,920,780	L593P	probably damaging	Het
Scfd2	T	C	5: 74,531,343	I93V	probably benign	Het
Spata33	T	C	8: 123,214,395	L61P	unknown	Het
Stard10	A	T	7: 101,343,136		probably null	Het
Stub1	T	C	17: 25,832,064	I115V	probably benign	Het
Tmem247	C	T	17: 86,918,282	T50I	probably benign	Het
Tnrc6b	A	G	15: 80,887,022	M1103V	possibly damaging	Het
Trim61	T	C	8: 65,013,874	Y245C	probably benign	Het
Trip13	T	C	13: 73,920,011	I284V	probably benign	Het
Trpm4	T	C	7: 45,327,268		probably null	Het
Ttn	A	G	2: 76,730,574	L29161S	probably damaging	Het
Ttn	C	A	2: 76,909,748	L3528F	unknown	Het
Ube2v2	G	A	16: 15,581,084	T47I	probably benign	Het
Vwa5b1	C	T	4: 138,575,422	A921T	possibly damaging	Het
Xylt1	T	A	7: 117,637,602	F526Y	probably damaging	Het

Other mutations in Sema4f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Sema4f	APN	6	82937174	missense	probably benign	0.00
IGL01661:Sema4f	APN	6	82918055	unclassified	probably benign
R0054:Sema4f	UTSW	6	82919693	splice site	probably benign
R0054:Sema4f	UTSW	6	82919693	splice site	probably benign
R0243:Sema4f	UTSW	6	82939466	missense	possibly damaging	0.87
R0692:Sema4f	UTSW	6	82939530	unclassified	probably benign
R0893:Sema4f	UTSW	6	82935967	splice site	probably benign
R1708:Sema4f	UTSW	6	82917994	missense	probably damaging	1.00
R1833:Sema4f	UTSW	6	82918559	missense	probably benign	0.02
R1867:Sema4f	UTSW	6	82917843	missense	possibly damaging	0.84
R1899:Sema4f	UTSW	6	82918029	missense	probably benign	0.00
R1933:Sema4f	UTSW	6	82930927	missense	probably damaging	1.00
R1934:Sema4f	UTSW	6	82930927	missense	probably damaging	1.00
R2433:Sema4f	UTSW	6	82939509	missense	possibly damaging	0.66
R3801:Sema4f	UTSW	6	82918627	missense	possibly damaging	0.88
R4116:Sema4f	UTSW	6	82917906	missense	probably benign	0.25
R4745:Sema4f	UTSW	6	82918284	missense	probably damaging	1.00
R5187:Sema4f	UTSW	6	82917650	missense	probably benign	0.45
R6015:Sema4f	UTSW	6	82939572	unclassified	probably benign
R6043:Sema4f	UTSW	6	82919653	missense	probably damaging	0.99
R6110:Sema4f	UTSW	6	82937104	missense	probably damaging	0.97
R6378:Sema4f	UTSW	6	82917632	nonsense	probably null
R6449:Sema4f	UTSW	6	82917870	missense	probably benign	0.09
R6452:Sema4f	UTSW	6	82917662	missense	probably benign	0.36
R6854:Sema4f	UTSW	6	82918002	missense	probably damaging	1.00
R7475:Sema4f	UTSW	6	82914374	missense	possibly damaging	0.94
R7555:Sema4f	UTSW	6	82914056	missense	probably benign	0.01
R7780:Sema4f	UTSW	6	82913960	missense	possibly damaging	0.95
X0026:Sema4f	UTSW	6	82935680	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGTGTTTCCGGGAACAAGGC -3'
(R):5'- TCCCTGAGAAACATTGTCACCC -3'

Sequencing Primer
(F):5'- TTTCCGGGAACAAGGCCAGATC -3'
(R):5'- ACCCAGACCTGTCTCCTTTAGTG -3'

Posted On

2019-06-26