Mutagenetix > Incidental Mutation

Incidental Mutation 'R6191:Sema3c'

502551

Institutional Source

Beutler Lab

Gene Symbol

Sema3c

Ensembl Gene

ENSMUSG00000028780

Gene Name

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C

Synonyms

Semae, 1110036B02Rik

MMRRC Submission

044331-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17779814-17935266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 17858804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 68 (V68L)

Ref Sequence

ENSEMBL: ENSMUSP00000132330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030568] [ENSMUST00000169603] [ENSMUST00000170181]

AlphaFold

Q62181

Predicted Effect

probably benign
Transcript: ENSMUST00000030568
AA Change: V68L

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: V68L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Sema	54	495	1.16e-200	SMART
PSI	513	565	2.87e-13	SMART
IG	577	662	7.08e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169603
AA Change: V68L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132330
Gene: ENSMUSG00000028780
AA Change: V68L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Sema	54	226	9.6e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170181

Meta Mutation Damage Score

0.1045

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU mutation exhibit perinatal lethality, hypopigmentation and abnormal heart development. Mice homozygous for a knock-out allele exhibit prenatal lethality associated with heart defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 55,909,807 (GRCm39)	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,143,419 (GRCm39)	K334N	probably benign	Het
Ano6	T	C	15: 95,846,380 (GRCm39)		probably null	Het
Ap1m2	C	A	9: 21,210,601 (GRCm39)	V343F	probably benign	Het
Apol6	T	C	15: 76,940,098 (GRCm39)	V307A	probably benign	Het
Arsi	C	A	18: 61,045,544 (GRCm39)	A78E	probably damaging	Het
B2m	A	T	2: 121,981,396 (GRCm39)	N37I	possibly damaging	Het
Bltp3b	G	T	10: 89,641,180 (GRCm39)	G784C	possibly damaging	Het
C8a	T	C	4: 104,703,100 (GRCm39)	K363R	probably benign	Het
Ccdc117	C	A	11: 5,484,242 (GRCm39)		probably null	Het
Ccdc154	C	A	17: 25,386,945 (GRCm39)	Q325K	probably damaging	Het
Cd300e	A	T	11: 114,945,359 (GRCm39)	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,356,474 (GRCm39)	P673Q	probably damaging	Het
Csn2	A	G	5: 87,843,885 (GRCm39)		probably null	Het
Ctnna1	T	C	18: 35,307,408 (GRCm39)	V135A	probably damaging	Het
Dnah11	T	A	12: 118,154,632 (GRCm39)	D216V	probably benign	Het
Dnah12	A	G	14: 26,431,412 (GRCm39)	H410R	probably benign	Het
Dock2	C	T	11: 34,181,652 (GRCm39)	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,325,214 (GRCm39)	N526D	unknown	Het
Frem2	T	C	3: 53,562,701 (GRCm39)	H602R	probably benign	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Grina	T	C	15: 76,133,218 (GRCm39)	V262A	probably damaging	Het
Gse1	G	A	8: 121,280,542 (GRCm39)		probably null	Het
H2-Oa	C	A	17: 34,312,842 (GRCm39)	Q40K	probably damaging	Het
Hfm1	C	A	5: 107,034,419 (GRCm39)	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,348,758 (GRCm39)	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,780,029 (GRCm39)	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Iqank1	T	C	15: 75,918,218 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,229,833 (GRCm39)	V1221A	probably benign	Het
Kdm6b	T	C	11: 69,297,584 (GRCm39)	N285S	probably benign	Het
Klk1b1	T	A	7: 43,620,081 (GRCm39)	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,738,125 (GRCm39)		probably benign	Het
Lama5	T	C	2: 179,827,752 (GRCm39)	D2170G	probably damaging	Het
Lama5	T	A	2: 179,822,404 (GRCm39)	T2890S	probably damaging	Het
Lsm2	T	A	17: 35,201,131 (GRCm39)		probably benign	Het
Map3k5	G	T	10: 19,899,415 (GRCm39)	C232F	probably damaging	Het
Mapk9	T	G	11: 49,754,383 (GRCm39)	D45E	probably damaging	Het
Mpnd	T	C	17: 56,319,482 (GRCm39)	V315A	possibly damaging	Het
Msh2	A	G	17: 88,030,900 (GRCm39)	I926V	probably benign	Het
Mtcl1	C	T	17: 66,650,521 (GRCm39)	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,457,058 (GRCm39)		probably null	Het
Neo1	T	C	9: 58,796,312 (GRCm39)	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,559,291 (GRCm39)	S259G	probably benign	Het
Nkain4	G	A	2: 180,577,796 (GRCm39)	P186L	probably damaging	Het
Nkain4	G	A	2: 180,577,797 (GRCm39)	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,283 (GRCm39)	R73*	probably null	Het
Nr5a2	T	C	1: 136,818,536 (GRCm39)	D330G	probably damaging	Het
Nup54	A	G	5: 92,572,153 (GRCm39)	L299P	probably damaging	Het
Or2v1	T	C	11: 49,025,877 (GRCm39)	L286P	probably damaging	Het
Or5aq7	A	G	2: 86,938,296 (GRCm39)	V145A	probably damaging	Het
Pcdhb8	T	A	18: 37,489,279 (GRCm39)	V319E	probably benign	Het
Pcsk6	T	A	7: 65,578,875 (GRCm39)	D129E	probably benign	Het
Pld5	G	A	1: 175,798,100 (GRCm39)	T433I	probably benign	Het
Plin1	A	T	7: 79,371,347 (GRCm39)	L459H	probably benign	Het
Psd4	T	C	2: 24,284,499 (GRCm39)	V121A	probably damaging	Het
Pxdn	A	T	12: 30,032,716 (GRCm39)	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,320,384 (GRCm39)	S569P	probably damaging	Het
Rfng	T	A	11: 120,673,516 (GRCm39)	T202S	probably damaging	Het
Robo1	T	C	16: 72,730,696 (GRCm39)	S266P	probably benign	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Slfn8	A	G	11: 82,907,626 (GRCm39)	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,720,105 (GRCm39)	D144G	probably damaging	Het
St7l	T	G	3: 104,775,349 (GRCm39)	F75C	probably damaging	Het
Stard10	A	G	7: 100,992,468 (GRCm39)	I145V	probably damaging	Het
Tekt3	C	T	11: 62,968,999 (GRCm39)	A242V	probably damaging	Het
Tex44	A	G	1: 86,354,306 (GRCm39)		probably benign	Het
Thg1l	T	C	11: 45,844,988 (GRCm39)	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,583,744 (GRCm39)	I67N	probably damaging	Het
Ttn	G	A	2: 76,677,770 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,861,051 (GRCm39)	L253*	probably null	Het
Uggt1	A	T	1: 36,201,289 (GRCm39)	N1150K	probably damaging	Het
Ush2a	T	A	1: 187,995,298 (GRCm39)	L23*	probably null	Het
Usp22	T	A	11: 61,065,602 (GRCm39)	N37I	probably benign	Het
Usp53	T	A	3: 122,743,390 (GRCm39)	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,322,702 (GRCm39)	K6E	probably benign	Het
Vps13d	C	T	4: 144,875,918 (GRCm39)	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,153,612 (GRCm39)	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,155,156 (GRCm39)	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,917,900 (GRCm39)		probably benign	Het
Zfp345	A	C	2: 150,315,010 (GRCm39)	Y176D	probably benign	Het
Zfp598	T	C	17: 24,896,850 (GRCm39)	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,393,820 (GRCm39)	D10G	probably damaging	Het
Zmat4	T	G	8: 24,392,083 (GRCm39)	M13R	probably damaging	Het

Other mutations in Sema3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Sema3c	APN	5	17,899,858 (GRCm39)	missense	probably damaging	1.00
IGL01528:Sema3c	APN	5	17,919,413 (GRCm39)	missense	probably benign
IGL01618:Sema3c	APN	5	17,877,504 (GRCm39)	missense	probably damaging	1.00
IGL01730:Sema3c	APN	5	17,916,434 (GRCm39)	missense	probably benign	0.01
IGL01762:Sema3c	APN	5	17,899,849 (GRCm39)	missense	possibly damaging	0.81
IGL02049:Sema3c	APN	5	17,926,923 (GRCm39)	splice site	probably benign
IGL02249:Sema3c	APN	5	17,867,961 (GRCm39)	missense	probably damaging	1.00
IGL02657:Sema3c	APN	5	17,867,972 (GRCm39)	missense	probably damaging	1.00
IGL02657:Sema3c	APN	5	17,781,866 (GRCm39)	start codon destroyed	possibly damaging	0.71
IGL03213:Sema3c	APN	5	17,899,637 (GRCm39)	splice site	probably benign
PIT4651001:Sema3c	UTSW	5	17,899,731 (GRCm39)	missense	probably benign	0.37
R0031:Sema3c	UTSW	5	17,899,726 (GRCm39)	missense	probably damaging	1.00
R0558:Sema3c	UTSW	5	17,919,413 (GRCm39)	missense	probably benign	0.00
R0964:Sema3c	UTSW	5	17,926,907 (GRCm39)	missense	probably damaging	1.00
R1164:Sema3c	UTSW	5	17,883,312 (GRCm39)	missense	probably benign	0.40
R1351:Sema3c	UTSW	5	17,883,334 (GRCm39)	missense	possibly damaging	0.60
R1368:Sema3c	UTSW	5	17,883,330 (GRCm39)	missense	possibly damaging	0.96
R1480:Sema3c	UTSW	5	17,887,029 (GRCm39)	missense	possibly damaging	0.57
R1880:Sema3c	UTSW	5	17,932,464 (GRCm39)	nonsense	probably null
R1916:Sema3c	UTSW	5	17,932,399 (GRCm39)	missense	probably benign	0.06
R3934:Sema3c	UTSW	5	17,886,938 (GRCm39)	missense	probably damaging	0.97
R4284:Sema3c	UTSW	5	17,883,345 (GRCm39)	missense	probably benign	0.01
R4449:Sema3c	UTSW	5	17,781,844 (GRCm39)	start gained	probably benign
R4545:Sema3c	UTSW	5	17,899,770 (GRCm39)	missense	probably benign	0.01
R4546:Sema3c	UTSW	5	17,899,770 (GRCm39)	missense	probably benign	0.01
R4660:Sema3c	UTSW	5	17,877,511 (GRCm39)	missense	probably damaging	1.00
R4890:Sema3c	UTSW	5	17,880,157 (GRCm39)	missense	probably benign	0.00
R4937:Sema3c	UTSW	5	17,899,684 (GRCm39)	missense	probably benign	0.01
R5065:Sema3c	UTSW	5	17,932,615 (GRCm39)	missense	possibly damaging	0.89
R5145:Sema3c	UTSW	5	17,932,615 (GRCm39)	missense	possibly damaging	0.89
R5452:Sema3c	UTSW	5	17,922,068 (GRCm39)	critical splice donor site	probably null
R5586:Sema3c	UTSW	5	17,916,422 (GRCm39)	missense	probably damaging	0.99
R5811:Sema3c	UTSW	5	17,880,188 (GRCm39)	splice site	probably null
R5886:Sema3c	UTSW	5	17,886,984 (GRCm39)	missense	possibly damaging	0.90
R6120:Sema3c	UTSW	5	17,932,630 (GRCm39)	missense	probably benign	0.00
R6318:Sema3c	UTSW	5	17,877,430 (GRCm39)	missense	probably damaging	0.96
R6416:Sema3c	UTSW	5	17,781,959 (GRCm39)	missense	probably damaging	0.99
R6441:Sema3c	UTSW	5	17,929,130 (GRCm39)	missense	possibly damaging	0.96
R6816:Sema3c	UTSW	5	17,875,463 (GRCm39)	missense	probably benign	0.36
R7146:Sema3c	UTSW	5	17,899,701 (GRCm39)	missense	probably benign	0.22
R7526:Sema3c	UTSW	5	17,932,594 (GRCm39)	missense	possibly damaging	0.46
R7832:Sema3c	UTSW	5	17,899,845 (GRCm39)	missense	probably damaging	0.99
R8034:Sema3c	UTSW	5	17,932,480 (GRCm39)	missense	probably damaging	1.00
R8053:Sema3c	UTSW	5	17,860,020 (GRCm39)	missense	probably benign	0.00
R8076:Sema3c	UTSW	5	17,932,362 (GRCm39)	missense	probably benign	0.00
R8264:Sema3c	UTSW	5	17,881,537 (GRCm39)	intron	probably benign
R8359:Sema3c	UTSW	5	17,858,726 (GRCm39)	missense	possibly damaging	0.56
R8437:Sema3c	UTSW	5	17,867,936 (GRCm39)	missense	probably damaging	0.99
R9174:Sema3c	UTSW	5	17,868,039 (GRCm39)	critical splice donor site	probably null
R9295:Sema3c	UTSW	5	17,932,495 (GRCm39)	missense	probably benign	0.09
R9477:Sema3c	UTSW	5	17,921,981 (GRCm39)	missense
R9599:Sema3c	UTSW	5	17,919,452 (GRCm39)	critical splice donor site	probably null
R9702:Sema3c	UTSW	5	17,858,828 (GRCm39)	missense	probably damaging	1.00
Z1176:Sema3c	UTSW	5	17,932,517 (GRCm39)	missense	probably benign	0.04
Z1177:Sema3c	UTSW	5	17,922,029 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAAAGCTAGTTATAAGTGGAAACA -3'
(R):5'- ACTTTAAACGAAATGGGAGGAATTAA -3'

Sequencing Primer
(F):5'- GAGCTTCGAGAAACCAAA -3'
(R):5'- AAAATAACTTAGAGGGTGTGTGTGTG -3'

Posted On

2018-02-27