Incidental Mutation 'R8076:Sema3c'
| ID |
629014 |
| 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 |
067510-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8076 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
17779814-17935266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17932362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 622
(I622V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030568]
|
| AlphaFold |
Q62181 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030568
AA Change: I622V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: I622V
| 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 |
|
| Meta Mutation Damage Score |
0.0635 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
T |
A |
8: 25,452,938 (GRCm39) |
R790* |
probably null |
Het |
| Adamts13 |
C |
A |
2: 26,880,624 (GRCm39) |
P736T |
probably benign |
Het |
| Aldh3b2 |
T |
A |
19: 4,028,859 (GRCm39) |
F176L |
possibly damaging |
Het |
| Aldoart2 |
A |
G |
12: 55,612,696 (GRCm39) |
E207G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,361,535 (GRCm39) |
E753D |
probably benign |
Het |
| Cd160 |
T |
A |
3: 96,709,662 (GRCm39) |
T158S |
probably benign |
Het |
| Cd209g |
T |
A |
8: 4,185,195 (GRCm39) |
M1K |
probably null |
Het |
| Chrm4 |
A |
G |
2: 91,758,204 (GRCm39) |
Y204C |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,456,346 (GRCm39) |
N465K |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,405,128 (GRCm39) |
H2471Q |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,411,189 (GRCm39) |
V1612A |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,382,477 (GRCm39) |
V702A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,003,127 (GRCm39) |
T3609A |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,040,426 (GRCm39) |
|
probably null |
Het |
| Dpy19l2 |
C |
T |
9: 24,591,988 (GRCm39) |
R205H |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,762,363 (GRCm39) |
D473E |
probably damaging |
Het |
| Elapor1 |
G |
T |
3: 108,399,398 (GRCm39) |
T64K |
probably benign |
Het |
| Elobl |
T |
C |
11: 88,855,796 (GRCm39) |
E89G |
possibly damaging |
Het |
| Fam186a |
A |
T |
15: 99,841,351 (GRCm39) |
I1631N |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,159,496 (GRCm39) |
W2411* |
probably null |
Het |
| Fbxl17 |
A |
G |
17: 63,367,360 (GRCm39) |
I671T |
probably damaging |
Het |
| Glul |
C |
T |
1: 153,782,868 (GRCm39) |
T193I |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,543,000 (GRCm39) |
Y907C |
probably damaging |
Het |
| H4c16 |
A |
G |
6: 136,781,124 (GRCm39) |
M85T |
probably benign |
Het |
| Hr |
A |
G |
14: 70,795,381 (GRCm39) |
T309A |
probably benign |
Het |
| Ighg3 |
A |
G |
12: 113,324,158 (GRCm39) |
S110P |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,737,755 (GRCm39) |
E180G |
possibly damaging |
Het |
| Mat2b |
A |
T |
11: 40,576,092 (GRCm39) |
L112Q |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,896,169 (GRCm39) |
M497T |
probably damaging |
Het |
| Mmp24 |
C |
A |
2: 155,649,481 (GRCm39) |
Y299* |
probably null |
Het |
| Mtor |
T |
C |
4: 148,610,260 (GRCm39) |
|
probably null |
Het |
| Olig2 |
C |
A |
16: 91,023,299 (GRCm39) |
D4E |
probably damaging |
Het |
| Or10ag2 |
A |
T |
2: 87,248,889 (GRCm39) |
I164L |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,142,077 (GRCm39) |
S878P |
probably damaging |
Het |
| Pcgf5 |
C |
T |
19: 36,417,483 (GRCm39) |
P137L |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,997,071 (GRCm39) |
N238D |
probably damaging |
Het |
| Pstpip1 |
T |
C |
9: 56,035,064 (GRCm39) |
S346P |
probably benign |
Het |
| Qsox2 |
G |
A |
2: 26,114,897 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Rbpj |
T |
C |
5: 53,799,479 (GRCm39) |
I129T |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
G |
A |
7: 46,360,031 (GRCm39) |
P9L |
probably benign |
Het |
| Sigirr |
C |
T |
7: 140,671,785 (GRCm39) |
V333M |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,246,183 (GRCm39) |
S387P |
probably damaging |
Het |
| Spata31h1 |
A |
C |
10: 82,132,520 (GRCm39) |
Y163* |
probably null |
Het |
| Spta1 |
T |
A |
1: 174,014,797 (GRCm39) |
S426T |
probably benign |
Het |
| Stag3 |
G |
A |
5: 138,281,404 (GRCm39) |
S124N |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,993,176 (GRCm39) |
Y244C |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,995,440 (GRCm39) |
I261N |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,832,267 (GRCm39) |
K395E |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,918,048 (GRCm39) |
D1905V |
probably benign |
Het |
| Trim12c |
T |
C |
7: 103,990,037 (GRCm39) |
Y480C |
unknown |
Het |
| Trip11 |
A |
G |
12: 101,849,741 (GRCm39) |
V1441A |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,795,392 (GRCm39) |
R1107Q |
probably benign |
Het |
| Wdr41 |
A |
G |
13: 95,153,838 (GRCm39) |
I296V |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,345,260 (GRCm39) |
V1213E |
possibly damaging |
Het |
| Zfp37 |
T |
C |
4: 62,109,553 (GRCm39) |
N545D |
possibly 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 |
|
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 |
|
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'- ACATGTGCAGTGGATCTAACC -3'
(R):5'- CAGGATGTCCTTTGGATGGAAG -3'
Sequencing Primer
(F):5'- GTGCAGTGGATCTAACCATAATGC -3'
(R):5'- CCTTTGGATGGAAGGGTAGAGCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation