Incidental Mutation 'IGL02657:Sema3c'
| ID |
302377 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sema3c
|
| Ensembl Gene |
ENSMUSG00000028780 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C |
| Synonyms |
1110036B02Rik, Semae |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02657
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
17574281-17730268 bp(+) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 17576868 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030568]
[ENSMUST00000169603]
[ENSMUST00000170181]
|
| AlphaFold |
Q62181 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030568
AA Change: M1L
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: M1L
| 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: ENSMUST00000169603
AA Change: M1L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132330
Gene: ENSMUSG00000028780
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Sema
|
54 |
226 |
9.6e-65 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170181
AA Change: M1L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170348
|
| Coding Region Coverage |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
G |
A |
11: 117,834,822 (GRCm38) |
V120M |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,590,794 (GRCm38) |
L680P |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,247,278 (GRCm38) |
D410E |
probably benign |
Het |
| Amt |
T |
A |
9: 108,301,380 (GRCm38) |
V365E |
probably damaging |
Het |
| Ano9 |
A |
G |
7: 141,107,440 (GRCm38) |
S321P |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 119,753,032 (GRCm38) |
I767F |
probably damaging |
Het |
| Bag1 |
A |
T |
4: 40,936,643 (GRCm38) |
Y338N |
probably benign |
Het |
| Bcr |
T |
A |
10: 75,154,964 (GRCm38) |
D767E |
probably benign |
Het |
| Chfr |
A |
T |
5: 110,154,839 (GRCm38) |
Q350L |
probably damaging |
Het |
| Cops3 |
A |
T |
11: 59,830,217 (GRCm38) |
L124H |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 61,984,115 (GRCm38) |
Y988H |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,770,481 (GRCm38) |
|
probably benign |
Het |
| Dym |
C |
T |
18: 75,082,456 (GRCm38) |
Q238* |
probably null |
Het |
| Fam126b |
A |
T |
1: 58,535,402 (GRCm38) |
W327R |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,352,025 (GRCm38) |
C1341S |
possibly damaging |
Het |
| Fryl |
G |
T |
5: 73,054,860 (GRCm38) |
N2308K |
probably benign |
Het |
| Gbp2b |
G |
T |
3: 142,604,112 (GRCm38) |
R221L |
probably damaging |
Het |
| Gm4070 |
T |
C |
7: 105,896,765 (GRCm38) |
K2360R |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,427,331 (GRCm38) |
N8S |
probably benign |
Het |
| Ift52 |
A |
G |
2: 163,045,215 (GRCm38) |
D379G |
probably damaging |
Het |
| Inhbe |
C |
A |
10: 127,350,776 (GRCm38) |
L178F |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 120,943,800 (GRCm38) |
Y913H |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,172,230 (GRCm38) |
D1507E |
possibly damaging |
Het |
| Lnx2 |
A |
G |
5: 147,028,174 (GRCm38) |
V413A |
probably damaging |
Het |
| Lrrc40 |
C |
A |
3: 158,036,773 (GRCm38) |
F16L |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 19,227,583 (GRCm38) |
K99E |
probably damaging |
Het |
| Me3 |
A |
G |
7: 89,846,253 (GRCm38) |
I357M |
probably benign |
Het |
| Med30 |
A |
G |
15: 52,719,365 (GRCm38) |
Y66C |
probably benign |
Het |
| Mief2 |
A |
T |
11: 60,730,957 (GRCm38) |
S118C |
probably damaging |
Het |
| Mylip |
A |
G |
13: 45,391,246 (GRCm38) |
S49G |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,652,976 (GRCm38) |
D107V |
probably damaging |
Het |
| Nvl |
C |
A |
1: 181,106,976 (GRCm38) |
V655F |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,681,076 (GRCm38) |
T501I |
probably benign |
Het |
| Ormdl2 |
T |
C |
10: 128,820,317 (GRCm38) |
I40V |
probably benign |
Het |
| Pde6b |
G |
T |
5: 108,420,276 (GRCm38) |
|
probably benign |
Het |
| Ralgapa1 |
A |
C |
12: 55,673,507 (GRCm38) |
L1785W |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,450,252 (GRCm38) |
|
probably null |
Het |
| Sema4b |
G |
A |
7: 80,217,041 (GRCm38) |
G255D |
probably damaging |
Het |
| Setd1a |
C |
T |
7: 127,795,825 (GRCm38) |
|
probably benign |
Het |
| Sirpb1a |
A |
C |
3: 15,417,051 (GRCm38) |
S72R |
possibly damaging |
Het |
| Slu7 |
T |
A |
11: 43,442,022 (GRCm38) |
|
probably null |
Het |
| Spata19 |
T |
C |
9: 27,397,980 (GRCm38) |
V59A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,325,104 (GRCm38) |
P658L |
unknown |
Het |
| Suclg1 |
T |
A |
6: 73,260,521 (GRCm38) |
V83E |
probably damaging |
Het |
| Syncrip |
G |
T |
9: 88,456,404 (GRCm38) |
R536S |
probably benign |
Het |
| Tap2 |
T |
C |
17: 34,205,458 (GRCm38) |
V55A |
probably damaging |
Het |
| Tekt4 |
T |
C |
17: 25,473,758 (GRCm38) |
I186T |
possibly damaging |
Het |
| Trpc6 |
C |
A |
9: 8,643,601 (GRCm38) |
D462E |
possibly damaging |
Het |
| Ubqln3 |
T |
G |
7: 104,141,963 (GRCm38) |
T307P |
probably damaging |
Het |
| Vmn1r64 |
A |
T |
7: 5,883,728 (GRCm38) |
I272K |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,290,280 (GRCm38) |
T574A |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,411,954 (GRCm38) |
T1021A |
possibly damaging |
Het |
| Zfp512 |
A |
T |
5: 31,471,157 (GRCm38) |
H159L |
probably damaging |
Het |
|
| Other mutations in Sema3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00559:Sema3c
|
APN |
5 |
17,694,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01528:Sema3c
|
APN |
5 |
17,714,415 (GRCm38) |
missense |
probably benign |
|
|
IGL01618:Sema3c
|
APN |
5 |
17,672,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01730:Sema3c
|
APN |
5 |
17,711,436 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01762:Sema3c
|
APN |
5 |
17,694,851 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL02049:Sema3c
|
APN |
5 |
17,721,925 (GRCm38) |
splice site |
probably benign |
|
|
IGL02249:Sema3c
|
APN |
5 |
17,662,963 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02657:Sema3c
|
APN |
5 |
17,662,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03213:Sema3c
|
APN |
5 |
17,694,639 (GRCm38) |
splice site |
probably benign |
|
|
PIT4651001:Sema3c
|
UTSW |
5 |
17,694,733 (GRCm38) |
missense |
probably benign |
0.37 |
|
R0031:Sema3c
|
UTSW |
5 |
17,694,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0558:Sema3c
|
UTSW |
5 |
17,714,415 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0964:Sema3c
|
UTSW |
5 |
17,721,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1164:Sema3c
|
UTSW |
5 |
17,678,314 (GRCm38) |
missense |
probably benign |
0.40 |
|
R1351:Sema3c
|
UTSW |
5 |
17,678,336 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1368:Sema3c
|
UTSW |
5 |
17,678,332 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R1480:Sema3c
|
UTSW |
5 |
17,682,031 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R1880:Sema3c
|
UTSW |
5 |
17,727,466 (GRCm38) |
nonsense |
probably null |
|
|
R1916:Sema3c
|
UTSW |
5 |
17,727,401 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3934:Sema3c
|
UTSW |
5 |
17,681,940 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4284:Sema3c
|
UTSW |
5 |
17,678,347 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4449:Sema3c
|
UTSW |
5 |
17,576,846 (GRCm38) |
start gained |
probably benign |
|
|
R4545:Sema3c
|
UTSW |
5 |
17,694,772 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4546:Sema3c
|
UTSW |
5 |
17,694,772 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4660:Sema3c
|
UTSW |
5 |
17,672,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4890:Sema3c
|
UTSW |
5 |
17,675,159 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4937:Sema3c
|
UTSW |
5 |
17,694,686 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5065:Sema3c
|
UTSW |
5 |
17,727,617 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5145:Sema3c
|
UTSW |
5 |
17,727,617 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5452:Sema3c
|
UTSW |
5 |
17,717,070 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5586:Sema3c
|
UTSW |
5 |
17,711,424 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5811:Sema3c
|
UTSW |
5 |
17,675,190 (GRCm38) |
splice site |
probably null |
|
|
R5886:Sema3c
|
UTSW |
5 |
17,681,986 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6120:Sema3c
|
UTSW |
5 |
17,727,632 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6191:Sema3c
|
UTSW |
5 |
17,653,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6318:Sema3c
|
UTSW |
5 |
17,672,432 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6416:Sema3c
|
UTSW |
5 |
17,576,961 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6441:Sema3c
|
UTSW |
5 |
17,724,132 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R6816:Sema3c
|
UTSW |
5 |
17,670,465 (GRCm38) |
missense |
probably benign |
0.36 |
|
R7146:Sema3c
|
UTSW |
5 |
17,694,703 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7526:Sema3c
|
UTSW |
5 |
17,727,596 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7832:Sema3c
|
UTSW |
5 |
17,694,847 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8034:Sema3c
|
UTSW |
5 |
17,727,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8053:Sema3c
|
UTSW |
5 |
17,655,022 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8076:Sema3c
|
UTSW |
5 |
17,727,364 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8264:Sema3c
|
UTSW |
5 |
17,676,539 (GRCm38) |
intron |
probably benign |
|
|
R8359:Sema3c
|
UTSW |
5 |
17,653,728 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8437:Sema3c
|
UTSW |
5 |
17,662,938 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9174:Sema3c
|
UTSW |
5 |
17,663,041 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9295:Sema3c
|
UTSW |
5 |
17,727,497 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9477:Sema3c
|
UTSW |
5 |
17,716,983 (GRCm38) |
missense |
|
|
|
R9599:Sema3c
|
UTSW |
5 |
17,714,454 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9702:Sema3c
|
UTSW |
5 |
17,653,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Sema3c
|
UTSW |
5 |
17,727,519 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1177:Sema3c
|
UTSW |
5 |
17,717,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation