Incidental Mutation 'R3934:Sema3c'
ID |
306930 |
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3934 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
17779814-17935266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 17886938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 330
(S330P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030568]
[ENSMUST00000170181]
|
AlphaFold |
Q62181 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030568
AA Change: S330P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000030568 Gene: ENSMUSG00000028780 AA Change: S330P
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 benign
Transcript: ENSMUST00000170181
|
Meta Mutation Damage Score |
0.2149 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
100% (40/40) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
T |
A |
12: 18,584,082 (GRCm39) |
Y381N |
possibly damaging |
Het |
Adgrf3 |
T |
C |
5: 30,405,432 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,623,166 (GRCm39) |
F3819S |
probably benign |
Het |
Aig1 |
T |
C |
10: 13,677,656 (GRCm39) |
D112G |
probably damaging |
Het |
Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
C2cd5 |
C |
T |
6: 142,987,106 (GRCm39) |
V499I |
possibly damaging |
Het |
Capn11 |
A |
T |
17: 45,945,213 (GRCm39) |
|
probably benign |
Het |
Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
Enpp2 |
A |
G |
15: 54,709,317 (GRCm39) |
V766A |
probably benign |
Het |
Fastk |
G |
T |
5: 24,647,257 (GRCm39) |
S317* |
probably null |
Het |
Fgfr1op2 |
T |
A |
6: 146,496,669 (GRCm39) |
|
probably benign |
Het |
Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,458,164 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
T |
A |
2: 31,270,496 (GRCm39) |
|
probably null |
Het |
Hspbp1 |
A |
T |
7: 4,667,594 (GRCm39) |
M271K |
probably benign |
Het |
Itgb6 |
G |
A |
2: 60,441,755 (GRCm39) |
T685M |
possibly damaging |
Het |
Itih5 |
G |
A |
2: 10,250,355 (GRCm39) |
V685I |
probably damaging |
Het |
Kalrn |
T |
C |
16: 34,130,901 (GRCm39) |
S421G |
probably benign |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
Perm1 |
A |
G |
4: 156,303,627 (GRCm39) |
T724A |
probably benign |
Het |
Pex5l |
T |
C |
3: 33,061,321 (GRCm39) |
E176G |
probably damaging |
Het |
Polk |
A |
T |
13: 96,638,143 (GRCm39) |
M192K |
possibly damaging |
Het |
Polr3a |
T |
C |
14: 24,526,169 (GRCm39) |
I401V |
probably benign |
Het |
Prpf38b |
T |
C |
3: 108,811,741 (GRCm39) |
|
probably benign |
Het |
Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
Slc39a12 |
T |
A |
2: 14,439,174 (GRCm39) |
|
probably benign |
Het |
Sod3 |
T |
C |
5: 52,525,987 (GRCm39) |
S229P |
probably benign |
Het |
Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
Spink5 |
G |
T |
18: 44,149,494 (GRCm39) |
K958N |
probably damaging |
Het |
Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
Ush2a |
T |
A |
1: 187,995,708 (GRCm39) |
|
probably null |
Het |
Vmn2r19 |
T |
A |
6: 123,292,628 (GRCm39) |
D223E |
probably damaging |
Het |
Vwf |
T |
A |
6: 125,532,462 (GRCm39) |
S87T |
probably damaging |
Het |
Wdr35 |
G |
T |
12: 9,058,014 (GRCm39) |
G513C |
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 |
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 |
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'- CATCACTGAATATTTGTTGCTGCT -3'
(R):5'- TTGCCTAAGTATGATGAGAGTACAT -3'
Sequencing Primer
(F):5'- TATATATGCATGACACAGCACACATG -3'
(R):5'- CATTTTATGGGTACTTACAGTTCCTG -3'
|
Posted On |
2015-04-17 |