Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01419:Sema4g'

80334

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sema4g

Ensembl Gene

ENSMUSG00000025207

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01419

Quality Score

Status

Chromosome

Chromosomal Location

44977540-44991836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44985835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 250 (S250G)

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: S250G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
AA Change: S250G

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: S250G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
AA Change: S250G

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: S250G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
AA Change: S250G

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

Coding Region Coverage

Validation Efficiency

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
Abca2	A	T	2: 25,327,526 (GRCm39)	T672S	probably damaging	Het
Adamts14	A	T	10: 61,041,321 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Alkbh8	A	G	9: 3,385,354 (GRCm39)	R584G	probably damaging	Het
Apob	A	T	12: 8,052,251 (GRCm39)	I1218F	probably damaging	Het
Atp5f1a	T	C	18: 77,865,233 (GRCm39)	S52P	probably damaging	Het
B4galnt3	A	G	6: 120,192,351 (GRCm39)	S462P	possibly damaging	Het
Bdkrb1	A	G	12: 105,571,040 (GRCm39)	H202R	possibly damaging	Het
Bltp1	T	C	3: 37,102,270 (GRCm39)	S1323P	probably damaging	Het
Cd300lf	T	C	11: 115,017,180 (GRCm39)	K48E	probably benign	Het
Cfhr4	T	C	1: 139,667,382 (GRCm39)		probably null	Het
Chuk	A	T	19: 44,085,420 (GRCm39)	I242K	probably damaging	Het
Csde1	A	G	3: 102,946,086 (GRCm39)	T27A	probably damaging	Het
D930048N14Rik	C	T	11: 51,545,603 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,552,455 (GRCm39)	Y451N	possibly damaging	Het
Diaph3	C	A	14: 87,202,989 (GRCm39)	G623*	probably null	Het
Dlc1	T	C	8: 37,317,371 (GRCm39)	T435A	probably benign	Het
Dock8	A	G	19: 25,096,816 (GRCm39)	S575G	probably benign	Het
Fbxw22	T	A	9: 109,210,790 (GRCm39)	Y407F	probably benign	Het
Fzd4	C	A	7: 89,056,943 (GRCm39)	A330E	probably damaging	Het
Gm17415	A	G	1: 93,349,672 (GRCm39)		probably benign	Het
Gnat1	C	T	9: 107,556,633 (GRCm39)		probably null	Het
Gtf3c4	T	C	2: 28,725,081 (GRCm39)	Y76C	probably damaging	Het
Heatr5b	G	A	17: 79,103,939 (GRCm39)	H1079Y	probably benign	Het
Helz	T	G	11: 107,577,340 (GRCm39)	I1897S	unknown	Het
Hspa12a	T	C	19: 58,816,681 (GRCm39)		probably null	Het
Kcne1	G	T	16: 92,145,534 (GRCm39)	F103L	probably benign	Het
Lrrc20	A	T	10: 61,383,874 (GRCm39)	S94C	probably damaging	Het
Lrrc8a	A	G	2: 30,147,111 (GRCm39)	T642A	probably benign	Het
Ly6g5b	A	G	17: 35,333,494 (GRCm39)	L106P	probably benign	Het
Lyst	A	G	13: 13,810,423 (GRCm39)	S698G	probably benign	Het
Ndrg1	A	G	15: 66,802,900 (GRCm39)	V334A	probably benign	Het
Neb	A	T	2: 52,116,545 (GRCm39)	Y964*	probably null	Het
Or4c123	T	C	2: 89,126,689 (GRCm39)		probably benign	Het
Or8k3	A	T	2: 86,058,973 (GRCm39)	I114N	possibly damaging	Het
Parp10	A	G	15: 76,125,588 (GRCm39)	F497L	probably damaging	Het
Pdss1	A	G	2: 22,825,589 (GRCm39)	M343V	possibly damaging	Het
Phactr3	C	T	2: 177,920,855 (GRCm39)	T231I	probably benign	Het
Plekhh2	A	T	17: 84,890,980 (GRCm39)		probably benign	Het
Ppp1r12c	A	C	7: 4,489,351 (GRCm39)		probably null	Het
Prdm2	G	T	4: 142,860,218 (GRCm39)	P1024H	probably damaging	Het
Prkacb	A	T	3: 146,461,448 (GRCm39)	M1K	probably null	Het
Prkdc	C	A	16: 15,653,030 (GRCm39)	P3835Q	probably damaging	Het
Rps27a	T	C	11: 29,496,353 (GRCm39)	T87A	probably benign	Het
Ryr2	T	A	13: 11,814,723 (GRCm39)	E683V	possibly damaging	Het
Sbk2	A	G	7: 4,960,528 (GRCm39)	L214P	probably damaging	Het
Slc27a6	T	A	18: 58,742,281 (GRCm39)	D498E	probably benign	Het
Tarbp1	T	C	8: 127,154,894 (GRCm39)	D1410G	probably benign	Het
Tas2r134	T	A	2: 51,517,759 (GRCm39)	Y79*	probably null	Het
Tie1	T	C	4: 118,333,295 (GRCm39)	D857G	probably damaging	Het
Tnk2	A	G	16: 32,499,498 (GRCm39)	N432S	probably damaging	Het
Tubg2	C	A	11: 101,049,883 (GRCm39)	D176E	probably benign	Het
Ugt2b34	A	T	5: 87,039,264 (GRCm39)	W466R	probably damaging	Het
Usp47	T	A	7: 111,687,118 (GRCm39)	M692K	possibly damaging	Het
Vmn2r106	T	C	17: 20,499,807 (GRCm39)	K143E	probably benign	Het
Vmn2r118	G	A	17: 55,900,000 (GRCm39)	L635F	probably benign	Het
Vmn2r16	C	T	5: 109,510,267 (GRCm39)		probably benign	Het
Vmn2r76	A	T	7: 85,874,910 (GRCm39)	M689K	probably benign	Het
Xkr6	T	C	14: 64,056,325 (GRCm39)	Y79H	probably benign	Het
Zdhhc6	A	G	19: 55,298,186 (GRCm39)	F224L	probably benign	Het
Zfp493	T	G	13: 67,934,921 (GRCm39)	I291M	probably benign	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
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
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

Posted On

2013-11-05