Incidental Mutation 'R1880:Sema3c'
| ID |
209025 |
| 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 |
039901-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
17779814-17935266 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 17932464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 656
(K656*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030568]
|
| AlphaFold |
Q62181 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030568
AA Change: K656*
|
| SMART Domains |
Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: K656*
| 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 |
noncoding transcript
Transcript: ENSMUST00000115271
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.2%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,072,615 (GRCm39) |
D846G |
possibly damaging |
Het |
| Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
| Atp10b |
G |
T |
11: 43,150,259 (GRCm39) |
G1319V |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,473,973 (GRCm39) |
T315A |
probably damaging |
Het |
| Brd10 |
C |
A |
19: 29,695,523 (GRCm39) |
L1323F |
probably benign |
Het |
| Btnl2 |
A |
G |
17: 34,584,337 (GRCm39) |
E420G |
possibly damaging |
Het |
| Capn2 |
A |
G |
1: 182,316,581 (GRCm39) |
W293R |
probably damaging |
Het |
| Cd209f |
A |
G |
8: 4,155,464 (GRCm39) |
|
probably null |
Het |
| Cltc |
A |
G |
11: 86,603,457 (GRCm39) |
Y790H |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,841,394 (GRCm39) |
K1259R |
unknown |
Het |
| Dpysl3 |
A |
T |
18: 43,462,939 (GRCm39) |
|
probably null |
Het |
| Dus4l |
T |
C |
12: 31,690,869 (GRCm39) |
I261V |
probably benign |
Het |
| Ell3 |
T |
C |
2: 121,270,792 (GRCm39) |
D247G |
probably benign |
Het |
| Erg |
G |
A |
16: 95,178,168 (GRCm39) |
T246I |
probably benign |
Het |
| Eva1c |
T |
C |
16: 90,694,303 (GRCm39) |
I196T |
possibly damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,661 (GRCm39) |
D182G |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,690,444 (GRCm39) |
|
probably null |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gata4 |
G |
T |
14: 63,442,144 (GRCm39) |
P20Q |
probably damaging |
Het |
| Gmnc |
T |
C |
16: 26,784,361 (GRCm39) |
D48G |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,336 (GRCm39) |
A113V |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,306,260 (GRCm39) |
I481V |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,432,523 (GRCm39) |
V380A |
possibly damaging |
Het |
| Hspa2 |
G |
A |
12: 76,452,694 (GRCm39) |
D463N |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,585,231 (GRCm39) |
D2G |
probably benign |
Het |
| Kel |
G |
A |
6: 41,664,479 (GRCm39) |
L653F |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,288,184 (GRCm39) |
Y748C |
probably damaging |
Het |
| Lpxn |
A |
G |
19: 12,781,452 (GRCm39) |
K57E |
probably benign |
Het |
| Ltbp2 |
G |
T |
12: 84,876,045 (GRCm39) |
H501N |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,332,384 (GRCm39) |
A2419V |
probably damaging |
Het |
| Map3k12 |
A |
G |
15: 102,410,499 (GRCm39) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,034,285 (GRCm39) |
V668I |
possibly damaging |
Het |
| Mmp10 |
T |
C |
9: 7,505,575 (GRCm39) |
S280P |
probably benign |
Het |
| Neb |
C |
A |
2: 52,148,743 (GRCm39) |
M2601I |
probably damaging |
Het |
| Nsd1 |
T |
A |
13: 55,361,606 (GRCm39) |
N191K |
probably damaging |
Het |
| Or2w1 |
A |
T |
13: 21,317,802 (GRCm39) |
N286Y |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,335 (GRCm39) |
S91P |
probably damaging |
Het |
| Or5w14 |
C |
A |
2: 87,541,639 (GRCm39) |
G204C |
probably damaging |
Het |
| Or6c214 |
A |
G |
10: 129,591,290 (GRCm39) |
F10L |
probably benign |
Het |
| Patj |
C |
T |
4: 98,385,477 (GRCm39) |
P364S |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,655,770 (GRCm39) |
V39A |
probably benign |
Het |
| Pira13 |
C |
T |
7: 3,827,950 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,388,638 (GRCm39) |
I1332F |
probably benign |
Het |
| Polq |
T |
C |
16: 36,906,954 (GRCm39) |
V2026A |
possibly damaging |
Het |
| Pomt2 |
G |
T |
12: 87,182,370 (GRCm39) |
A219D |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,571,294 (GRCm39) |
Y678N |
possibly damaging |
Het |
| Rpf2 |
T |
C |
10: 40,109,154 (GRCm39) |
D95G |
possibly damaging |
Het |
| Sema4b |
A |
T |
7: 79,866,540 (GRCm39) |
S207C |
probably damaging |
Het |
| Snap25 |
G |
A |
2: 136,619,305 (GRCm39) |
V153M |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,026,786 (GRCm39) |
|
probably null |
Het |
| Tas2r144 |
C |
T |
6: 42,193,004 (GRCm39) |
T248I |
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,761,687 (GRCm39) |
V814M |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,727,695 (GRCm39) |
E346G |
probably damaging |
Het |
| Vmn1r192 |
G |
T |
13: 22,371,764 (GRCm39) |
A152E |
probably benign |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,698 (GRCm39) |
S206C |
probably damaging |
Het |
| Vps36 |
T |
C |
8: 22,703,578 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
T |
C |
5: 102,065,301 (GRCm39) |
N1289S |
probably benign |
Het |
| Zfp759 |
T |
C |
13: 67,287,276 (GRCm39) |
C276R |
probably damaging |
Het |
| Zkscan17 |
G |
A |
11: 59,378,455 (GRCm39) |
Q243* |
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 |
|
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 |
|
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'- TGCCTAGCTGTGAAAGTCAACC -3'
(R):5'- GCCTTCAGCTTGCCATAGTC -3'
Sequencing Primer
(F):5'- GCTGTGAAAGTCAACCATGTATTG -3'
(R):5'- GTGGTTCTTCCCCCAGCTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation