Mutagenetix > Incidental Mutation

Incidental Mutation 'R9158:Sema4g'

695543

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

068942-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44977540-44991836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44986846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 433 (V433D)

Ref Sequence

ENSEMBL: ENSMUSP00000026225 (fasta)

Gene Model

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

AlphaFold

Q9WUH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026225
AA Change: V433D

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
AA Change: V433D

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

possibly damaging
Transcript: ENSMUST00000130549
AA Change: V433D

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
AA Change: V433D

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

possibly damaging
Transcript: ENSMUST00000179305
AA Change: V433D

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
AA Change: V433D

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

0.6572

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,645 (GRCm39)	C637Y	probably damaging	Het
Ahdc1	A	G	4: 132,792,505 (GRCm39)	T1249A	possibly damaging	Het
Alkbh3	A	G	2: 93,835,082 (GRCm39)	S88P	probably damaging	Het
Ankrd17	C	A	5: 90,416,575 (GRCm39)	A1086S	probably damaging	Het
Ankzf1	T	A	1: 75,173,020 (GRCm39)	V372E	probably damaging	Het
Apbb1ip	T	C	2: 22,764,951 (GRCm39)	V544A	probably benign	Het
Atp13a2	T	C	4: 140,724,112 (GRCm39)		probably null	Het
Cacna2d1	A	G	5: 16,140,039 (GRCm39)	T10A	probably benign	Het
Cadps	T	C	14: 12,546,356 (GRCm38)	N500S	probably benign	Het
Casp16	A	G	17: 23,769,948 (GRCm39)		probably benign	Het
Cdh22	T	A	2: 165,012,627 (GRCm39)	I153F	probably damaging	Het
Clip2	T	C	5: 134,521,251 (GRCm39)	E964G	probably benign	Het
Cracdl	A	T	1: 37,670,442 (GRCm39)	M166K	probably damaging	Het
Cryga	T	C	1: 65,142,198 (GRCm39)	D65G	probably benign	Het
Dap3	A	G	3: 88,832,637 (GRCm39)	Y357H	probably damaging	Het
Eef2	C	T	10: 81,014,693 (GRCm39)		probably benign	Het
Gja4	A	G	4: 127,206,466 (GRCm39)	L99P	probably damaging	Het
Glb1l3	A	T	9: 26,765,005 (GRCm39)	Y135*	probably null	Het
Gm5114	T	G	7: 39,060,486 (GRCm39)	D121A	probably damaging	Het
Gm6525	A	G	3: 84,082,255 (GRCm39)	K59E	probably benign	Het
Herc1	C	T	9: 66,376,400 (GRCm39)	L3407F	probably benign	Het
Hmgcr	G	A	13: 96,792,170 (GRCm39)	R589*	probably null	Het
Iglv3	A	C	16: 19,060,012 (GRCm39)	D105E	probably damaging	Het
Il1r1	G	A	1: 40,332,391 (GRCm39)	W60*	probably null	Het
Il31ra	C	T	13: 112,670,394 (GRCm39)	W331*	probably null	Het
Inca1	C	T	11: 70,581,376 (GRCm39)	C16Y	probably damaging	Het
Inpp4a	A	G	1: 37,442,552 (GRCm39)	T628A	possibly damaging	Het
Kdm2a	C	G	19: 4,374,715 (GRCm39)	R805S	possibly damaging	Het
Kel	T	A	6: 41,664,905 (GRCm39)	I620L	probably benign	Het
Kmt2d	C	T	15: 98,741,020 (GRCm39)	G4638R	unknown	Het
Lilrb4b	T	A	10: 51,357,829 (GRCm39)	N174K	possibly damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltf	T	A	9: 110,868,003 (GRCm39)	V615E	probably damaging	Het
Map7d1	G	T	4: 126,130,478 (GRCm39)	Q443K	possibly damaging	Het
Mapk9	A	G	11: 49,745,095 (GRCm39)	D3G	probably benign	Het
Nktr	T	G	9: 121,582,154 (GRCm39)	S1424A	unknown	Het
Npas1	A	G	7: 16,195,333 (GRCm39)	S332P	possibly damaging	Het
Or13a25	T	C	7: 140,247,547 (GRCm39)	S109P	possibly damaging	Het
Or52n2c	T	C	7: 104,574,086 (GRCm39)	Y295C	probably damaging	Het
Or5ak4	A	G	2: 85,161,348 (GRCm39)	I298T	probably benign	Het
Or6d12	T	C	6: 116,492,791 (GRCm39)	F18L	possibly damaging	Het
Or8b12b	C	A	9: 37,684,800 (GRCm39)	P282T	probably damaging	Het
Pcdh8	A	G	14: 80,005,182 (GRCm39)	W948R	probably damaging	Het
Pde3a	A	G	6: 141,195,614 (GRCm39)	E100G	probably benign	Het
Phrf1	T	A	7: 140,836,466 (GRCm39)	V246D	unknown	Het
Pitpnb	A	T	5: 111,530,876 (GRCm39)	N223I	probably damaging	Het
Pkd1l3	A	T	8: 110,394,207 (GRCm39)	R2065*	probably null	Het
Prepl	T	C	17: 85,383,379 (GRCm39)	D355G	possibly damaging	Het
Runx2	A	G	17: 45,046,508 (GRCm39)	V5A	probably benign	Het
Sema6a	C	T	18: 47,431,330 (GRCm39)	V123I	probably damaging	Het
Senp6	A	G	9: 79,994,732 (GRCm39)	K24E	probably benign	Het
Slc22a8	T	A	19: 8,583,427 (GRCm39)	S211T	probably damaging	Het
Slc34a2	A	G	5: 53,221,217 (GRCm39)	D221G	possibly damaging	Het
Tmprss11g	A	T	5: 86,637,166 (GRCm39)	L323Q	probably damaging	Het
Tpcn1	T	C	5: 120,687,988 (GRCm39)		probably benign	Het
Trim65	G	A	11: 116,018,050 (GRCm39)	T311I	probably benign	Het
Tub	T	C	7: 108,625,962 (GRCm39)	F284L	possibly damaging	Het
Ube2j1	G	A	4: 33,036,711 (GRCm39)	V12I	probably benign	Het
Vmn2r101	A	T	17: 19,809,161 (GRCm39)	N97Y	probably benign	Het
Vmn2r49	C	A	7: 9,722,835 (GRCm39)	W146C	probably damaging	Het
Zfp628	T	C	7: 4,922,153 (GRCm39)	L125P	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
R5921:Sema4g	UTSW	19	44,987,143 (GRCm39)	missense	probably benign	0.04
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
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'- TGCATCACAGATTCATTGCG -3'
(R):5'- ATATGCTCTCAGTACCCAACAGG -3'

Sequencing Primer
(F):5'- TGTGAAGTTGCATCCCCT -3'
(R):5'- GTACCCAACAGGAGGCCTAATG -3'

Posted On

2022-01-20