Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Sema3c'

582981

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

045598-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17779814-17935266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17932594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 699 (H699L)

Ref Sequence

ENSEMBL: ENSMUSP00000030568 (fasta)

Gene Model

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

AlphaFold

Q62181

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030568
AA Change: H699L

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: H699L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,043,807 (GRCm39)	F85I	unknown	Het
Ankrd22	A	T	19: 34,126,765 (GRCm39)	W22R	possibly damaging	Het
Aqr	A	T	2: 113,938,590 (GRCm39)	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609 (GRCm39)	E791G	probably damaging	Het
Bicd1	T	G	6: 149,415,224 (GRCm39)	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,562,360 (GRCm39)	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,850 (GRCm39)	H465R	probably damaging	Het
Card11	A	T	5: 140,899,184 (GRCm39)		probably null	Het
Ccdc9	A	G	7: 16,016,325 (GRCm39)	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,800,771 (GRCm39)	M355K	probably benign	Het
Cnot2	A	T	10: 116,342,985 (GRCm39)	V116E	probably benign	Het
Defb48	A	G	14: 63,215,280 (GRCm39)	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,477,076 (GRCm39)	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,308,241 (GRCm39)	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,009,833 (GRCm39)	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,675,306 (GRCm39)	V71I	probably benign	Het
Dzip3	A	T	16: 48,795,837 (GRCm39)	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,550,308 (GRCm39)		probably null	Het
Eogt	A	G	6: 97,090,913 (GRCm39)	F409L	probably damaging	Het
Erich6	A	T	3: 58,538,110 (GRCm39)	L218H	probably damaging	Het
Fam186a	G	C	15: 99,839,796 (GRCm39)	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,476,464 (GRCm39)	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,502,126 (GRCm39)	T501S	probably damaging	Het
Fmn1	A	C	2: 113,518,479 (GRCm39)	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,775,251 (GRCm39)	P170Q	probably benign	Het
Gm14326	G	A	2: 177,588,298 (GRCm39)	H233Y	probably damaging	Het
Gm19410	G	A	8: 36,257,766 (GRCm39)	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm2832	A	T	14: 41,002,919 (GRCm39)	I143L		Het
Greb1	G	A	12: 16,766,766 (GRCm39)	T344I	probably benign	Het
Grik2	A	T	10: 49,399,918 (GRCm39)	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,808,885 (GRCm39)	N212D	probably benign	Het
Hgsnat	A	G	8: 26,461,077 (GRCm39)	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,532,324 (GRCm39)	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,661,728 (GRCm39)	I96N	unknown	Het
Il18r1	T	A	1: 40,510,932 (GRCm39)	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,798 (GRCm39)	V80I	probably damaging	Het
Kif18b	T	C	11: 102,805,493 (GRCm39)	I255V	probably damaging	Het
Kif2c	A	T	4: 117,039,629 (GRCm39)	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,448,864 (GRCm39)	W572R	probably damaging	Het
Mybphl	A	G	3: 108,281,496 (GRCm39)	T71A	probably benign	Het
Myo7a	G	T	7: 97,734,655 (GRCm39)	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,805,715 (GRCm39)	S195P	probably damaging	Het
Nrg1	T	C	8: 32,308,351 (GRCm39)	N603S	probably benign	Het
Or52ae9	T	C	7: 103,389,607 (GRCm39)	Y280C	probably damaging	Het
Or8k22	A	T	2: 86,163,697 (GRCm39)	M1K	probably null	Het
Or8k37	A	G	2: 86,470,013 (GRCm39)	I13T	possibly damaging	Het
Parp8	T	C	13: 117,031,341 (GRCm39)	E457G	probably damaging	Het
Pclo	T	C	5: 14,571,076 (GRCm39)	F154L	probably benign	Het
Pear1	A	G	3: 87,659,875 (GRCm39)	S704P	probably damaging	Het
Pkib	A	G	10: 57,612,394 (GRCm39)	T92A	probably benign	Het
Pnpla7	A	G	2: 24,888,678 (GRCm39)	R376G	possibly damaging	Het
Pramel28	A	T	4: 143,692,387 (GRCm39)	C205S	probably benign	Het
Ptprd	T	A	4: 75,984,564 (GRCm39)	E527D	probably benign	Het
Pum1	T	C	4: 130,474,337 (GRCm39)	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,283 (GRCm39)	Q238*	probably null	Het
Scn9a	A	C	2: 66,313,990 (GRCm39)	N1909K	probably benign	Het
Sema3f	A	T	9: 107,566,927 (GRCm39)	C201S	probably damaging	Het
Serinc2	T	A	4: 130,152,583 (GRCm39)	D206V	probably benign	Het
Serping1	A	T	2: 84,597,637 (GRCm39)	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,613,932 (GRCm39)	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,011,296 (GRCm39)	E262G	probably benign	Het
Slc5a8	A	G	10: 88,738,353 (GRCm39)	I205M	probably damaging	Het
Sod2	G	T	17: 13,226,918 (GRCm39)		probably benign	Het
Tec	T	C	5: 72,943,362 (GRCm39)	I118V	probably benign	Het
Tenm3	A	T	8: 48,740,847 (GRCm39)	V1212E	probably damaging	Het
Tex44	G	A	1: 86,354,237 (GRCm39)	V49I	probably benign	Het
Tmem132d	A	T	5: 127,861,205 (GRCm39)	L972*	probably null	Het
Tpte	G	A	8: 22,815,563 (GRCm39)		probably null	Het
Trim6	T	A	7: 103,882,039 (GRCm39)	I456N	probably damaging	Het
Ubr4	G	C	4: 139,149,728 (GRCm39)	V520L	probably benign	Het
Ubxn8	A	T	8: 34,123,635 (GRCm39)	N101K	probably benign	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	Het
Vmn2r83	A	G	10: 79,327,392 (GRCm39)	T667A	probably damaging	Het
Zpld2	T	C	4: 133,927,384 (GRCm39)		probably null	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
R6191:Sema3c	UTSW	5	17,858,804 (GRCm39)	missense	probably damaging	1.00
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
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'- TTCAAGATTCTGACCAAGGACTC -3'
(R):5'- GAGCATTTGTTCCTGGAAGC -3'

Sequencing Primer
(F):5'- AGGACTCTACCACTGCATTGC -3'
(R):5'- GAGCATTTGTTCCTGGAAGCAAAAC -3'

Posted On

2019-10-17