Mutagenetix > Incidental Mutation

Incidental Mutation 'R5921:Sema4g'

461612

Institutional Source

Beutler Lab

Gene Symbol

Sema4g

Ensembl Gene

ENSMUSG00000025207

Gene Name

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G

Synonyms

MMRRC Submission

044118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5921 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44977540-44991836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44987143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 460 (G460V)

Ref Sequence

ENSEMBL: ENSMUSP00000137395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026225] [ENSMUST00000130549] [ENSMUST00000179305]

AlphaFold

Q9WUH7

Predicted Effect

probably benign
Transcript: ENSMUST00000026225
AA Change: G460V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
AA Change: G460V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Sema	56	487	2.38e-165	SMART
PSI	505	556	6.59e-13	SMART
IG	567	649	6.26e-5	SMART
low complexity region	650	666	N/A	INTRINSIC
transmembrane domain	677	699	N/A	INTRINSIC
low complexity region	701	708	N/A	INTRINSIC
low complexity region	713	720	N/A	INTRINSIC
low complexity region	734	751	N/A	INTRINSIC
low complexity region	761	774	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130549
AA Change: G460V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
AA Change: G460V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Sema	56	487	2.38e-165	SMART
PSI	505	556	6.59e-13	SMART
IG	567	649	6.26e-5	SMART
low complexity region	650	666	N/A	INTRINSIC
transmembrane domain	677	699	N/A	INTRINSIC
low complexity region	701	708	N/A	INTRINSIC
low complexity region	713	720	N/A	INTRINSIC
low complexity region	734	751	N/A	INTRINSIC
low complexity region	761	774	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179305
AA Change: G460V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
AA Change: G460V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Sema	56	487	2.38e-165	SMART
PSI	505	556	6.59e-13	SMART
IG	567	649	6.26e-5	SMART
low complexity region	650	666	N/A	INTRINSIC
transmembrane domain	677	699	N/A	INTRINSIC
low complexity region	701	708	N/A	INTRINSIC
low complexity region	713	720	N/A	INTRINSIC
low complexity region	734	751	N/A	INTRINSIC
low complexity region	761	774	N/A	INTRINSIC

Meta Mutation Damage Score

0.2039

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

95% (70/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal cerebellar morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 35,969,555 (GRCm39)	V223M	probably damaging	Het
Adamts7	T	C	9: 90,070,747 (GRCm39)	S623P	probably benign	Het
Aqp7	G	T	4: 41,036,093 (GRCm39)	N48K	probably benign	Het
Asic4	A	G	1: 75,428,017 (GRCm39)	N181S	probably benign	Het
Blvra	A	T	2: 126,929,283 (GRCm39)		probably benign	Het
Bmf	C	A	2: 118,363,034 (GRCm39)		probably benign	Het
Bnc2	A	T	4: 84,211,292 (GRCm39)	I454N	possibly damaging	Het
Catsperg1	A	T	7: 28,889,948 (GRCm39)	L700H	possibly damaging	Het
Ccdc14	T	C	16: 34,526,761 (GRCm39)	V222A	probably damaging	Het
Cfap97d2	G	T	8: 13,784,840 (GRCm39)	A34S	probably damaging	Het
Clstn3	A	T	6: 124,408,539 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,300,602 (GRCm39)	I1066F	probably damaging	Het
Dcdc2c	T	C	12: 28,574,774 (GRCm39)	E116G	possibly damaging	Het
Dop1a	G	A	9: 86,383,975 (GRCm39)	S310N	probably damaging	Het
Dync1h1	T	A	12: 110,584,802 (GRCm39)	V735E	probably damaging	Het
Eva1a	T	C	6: 82,069,140 (GRCm39)	Y156H	probably damaging	Het
Fbxw26	A	G	9: 109,575,086 (GRCm39)	I13T	probably damaging	Het
Fermt2	A	T	14: 45,702,203 (GRCm39)	L527Q	probably damaging	Het
Fxyd4	G	A	6: 117,913,099 (GRCm39)		probably benign	Het
Gal	A	G	19: 3,460,100 (GRCm39)	S124P	probably damaging	Het
Glmp	T	C	3: 88,233,283 (GRCm39)	S56P	probably benign	Het
Gm5600	T	C	7: 113,307,413 (GRCm39)		noncoding transcript	Het
Golga2	A	G	2: 32,187,767 (GRCm39)	N194S	probably benign	Het
Gon4l	T	C	3: 88,817,254 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,246,426 (GRCm39)	Y895N	probably damaging	Het
Hsd3b1	C	A	3: 98,765,215 (GRCm39)	M22I	probably benign	Het
Ipo13	A	C	4: 117,769,286 (GRCm39)	L169V	probably benign	Het
Kif13a	G	T	13: 46,978,776 (GRCm39)	T208K	probably damaging	Het
Klhl5	G	T	5: 65,320,299 (GRCm39)	A618S	probably damaging	Het
Lrig2	A	T	3: 104,370,070 (GRCm39)	L496*	probably null	Het
Macf1	A	G	4: 123,420,504 (GRCm39)	I250T	probably benign	Het
Man1a	A	G	10: 53,783,606 (GRCm39)	I632T	probably damaging	Het
Nav2	A	G	7: 48,954,324 (GRCm39)		probably benign	Het
Nek8	A	G	11: 78,063,885 (GRCm39)	M40T	probably damaging	Het
Oas3	T	C	5: 120,908,046 (GRCm39)	D298G	probably damaging	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or14j4	A	T	17: 37,921,110 (GRCm39)	C177*	probably null	Het
Or8s5	T	C	15: 98,238,310 (GRCm39)	T187A	probably benign	Het
Or9s13	T	A	1: 92,548,344 (GRCm39)	S239T	probably benign	Het
Pafah2	G	T	4: 134,145,380 (GRCm39)	V255L	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Pirb	A	C	7: 3,719,693 (GRCm39)	Y484*	probably null	Het
Prl8a6	A	G	13: 27,621,171 (GRCm39)	S20P	probably damaging	Het
R3hdm4	A	T	10: 79,749,453 (GRCm39)	V52E	probably damaging	Het
Rab3ip	A	G	10: 116,775,152 (GRCm39)	Y69H	probably damaging	Het
Rxrg	T	C	1: 167,466,808 (GRCm39)	M330T	possibly damaging	Het
Sidt1	T	C	16: 44,094,098 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,065,595 (GRCm39)	D943E	probably benign	Het
Slc12a4	T	C	8: 106,671,876 (GRCm39)		probably null	Het
Slc4a3	T	G	1: 75,534,088 (GRCm39)		probably null	Het
Slc4a8	C	T	15: 100,712,328 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,158,005 (GRCm39)		probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tbc1d5	G	A	17: 51,270,721 (GRCm39)	T170M	probably damaging	Het
Trim13	T	A	14: 61,842,538 (GRCm39)	F185Y	probably benign	Het
Ttc17	A	G	2: 94,209,193 (GRCm39)	V87A	probably damaging	Het
Ttn	A	T	2: 76,551,207 (GRCm39)	M31395K	possibly damaging	Het
Usp34	T	A	11: 23,414,686 (GRCm39)	D2876E	probably damaging	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn2r93	T	A	17: 18,546,030 (GRCm39)	L634Q	probably damaging	Het
Vmp1	C	T	11: 86,477,336 (GRCm39)	A355T	probably benign	Het
Xpo5	A	T	17: 46,532,347 (GRCm39)	M461L	probably benign	Het
Zfp759	T	A	13: 67,288,558 (GRCm39)	F703Y	probably damaging	Het

Other mutations in Sema4g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01414:Sema4g	APN	19	44,986,435 (GRCm39)	missense	probably damaging	1.00
IGL01419:Sema4g	APN	19	44,985,835 (GRCm39)	missense	probably benign	0.00
IGL02033:Sema4g	APN	19	44,985,854 (GRCm39)	missense	probably damaging	1.00
IGL02092:Sema4g	APN	19	44,981,078 (GRCm39)	critical splice donor site	probably null
IGL02148:Sema4g	APN	19	44,984,908 (GRCm39)	missense	probably damaging	1.00
IGL02829:Sema4g	APN	19	44,981,188 (GRCm39)	missense	possibly damaging	0.95
IGL02837:Sema4g	UTSW	19	44,985,150 (GRCm39)	missense	probably damaging	0.96
R0550:Sema4g	UTSW	19	44,986,104 (GRCm39)	missense	probably benign
R0675:Sema4g	UTSW	19	44,986,026 (GRCm39)	missense	probably damaging	1.00
R1202:Sema4g	UTSW	19	44,986,696 (GRCm39)	missense	probably benign	0.31
R1346:Sema4g	UTSW	19	44,986,091 (GRCm39)	missense	possibly damaging	0.65
R1533:Sema4g	UTSW	19	44,981,256 (GRCm39)	missense	probably damaging	1.00
R1763:Sema4g	UTSW	19	44,990,044 (GRCm39)	nonsense	probably null
R1775:Sema4g	UTSW	19	44,987,681 (GRCm39)	critical splice donor site	probably null
R1803:Sema4g	UTSW	19	44,986,459 (GRCm39)	missense	probably benign	0.05
R1832:Sema4g	UTSW	19	44,987,456 (GRCm39)	missense	probably benign
R1909:Sema4g	UTSW	19	44,986,061 (GRCm39)	missense	probably damaging	0.96
R4035:Sema4g	UTSW	19	44,989,853 (GRCm39)	missense	probably damaging	0.99
R4131:Sema4g	UTSW	19	44,987,358 (GRCm39)	missense	probably benign
R4611:Sema4g	UTSW	19	44,990,051 (GRCm39)	missense	probably damaging	1.00
R4951:Sema4g	UTSW	19	44,985,010 (GRCm39)	splice site	probably null
R7573:Sema4g	UTSW	19	44,986,010 (GRCm39)	missense	probably damaging	0.96
R8099:Sema4g	UTSW	19	44,980,967 (GRCm39)	missense	probably damaging	1.00
R8169:Sema4g	UTSW	19	44,987,410 (GRCm39)	missense	probably damaging	1.00
R8354:Sema4g	UTSW	19	44,986,866 (GRCm39)	missense	probably benign	0.01
R8980:Sema4g	UTSW	19	44,981,583 (GRCm39)	missense	probably benign	0.04
R9158:Sema4g	UTSW	19	44,986,846 (GRCm39)	missense	possibly damaging	0.88
R9487:Sema4g	UTSW	19	44,981,071 (GRCm39)	missense	probably benign	0.00
X0011:Sema4g	UTSW	19	44,987,308 (GRCm39)	splice site	probably null
Z1177:Sema4g	UTSW	19	44,990,320 (GRCm39)	missense	probably damaging	1.00
Z1177:Sema4g	UTSW	19	44,986,486 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGATCCCTAAATGGCCTTGG -3'
(R):5'- GCTGGATTCAGAGAGGACAGTC -3'

Sequencing Primer
(F):5'- ACATTAGCTTGGAGTACCCCATG -3'
(R):5'- GTCAGTCAGCAACCCCTGTC -3'

Posted On

2017-02-28