Incidental Mutation 'IGL02657:Sema3c'
| ID |
302395 |
| 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 |
Semae, 1110036B02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02657
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
17779814-17935266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17867972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 128
(Y128N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030568]
[ENSMUST00000169603]
[ENSMUST00000170181]
|
| AlphaFold |
Q62181 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030568
AA Change: Y128N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: Y128N
| 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 damaging
Transcript: ENSMUST00000169603
AA Change: Y128N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132330
Gene: ENSMUSG00000028780
AA Change: Y128N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Sema
|
54 |
226 |
9.6e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170181
|
| 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: 117,725,648 (GRCm39) |
V120M |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,567,776 (GRCm39) |
L680P |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,138,104 (GRCm39) |
D410E |
probably benign |
Het |
| Amt |
T |
A |
9: 108,178,579 (GRCm39) |
V365E |
probably damaging |
Het |
| Ano9 |
A |
G |
7: 140,687,353 (GRCm39) |
S321P |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,479,771 (GRCm39) |
I767F |
probably damaging |
Het |
| Bag1 |
A |
T |
4: 40,936,643 (GRCm39) |
Y338N |
probably benign |
Het |
| Bcr |
T |
A |
10: 74,990,796 (GRCm39) |
D767E |
probably benign |
Het |
| Chfr |
A |
T |
5: 110,302,705 (GRCm39) |
Q350L |
probably damaging |
Het |
| Cops3 |
A |
T |
11: 59,721,043 (GRCm39) |
L124H |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,437,149 (GRCm39) |
Y988H |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,975,479 (GRCm39) |
|
probably benign |
Het |
| Dym |
C |
T |
18: 75,215,527 (GRCm39) |
Q238* |
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,193,945 (GRCm39) |
C1341S |
possibly damaging |
Het |
| Fryl |
G |
T |
5: 73,212,203 (GRCm39) |
N2308K |
probably benign |
Het |
| Gbp2b |
G |
T |
3: 142,309,873 (GRCm39) |
R221L |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,269,251 (GRCm39) |
N8S |
probably benign |
Het |
| Gvin2 |
T |
C |
7: 105,545,972 (GRCm39) |
K2360R |
probably damaging |
Het |
| Hycc2 |
A |
T |
1: 58,574,561 (GRCm39) |
W327R |
probably damaging |
Het |
| Ift52 |
A |
G |
2: 162,887,135 (GRCm39) |
D379G |
probably damaging |
Het |
| Inhbe |
C |
A |
10: 127,186,645 (GRCm39) |
L178F |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,181,212 (GRCm39) |
Y913H |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,099,968 (GRCm39) |
D1507E |
possibly damaging |
Het |
| Lnx2 |
A |
G |
5: 146,964,984 (GRCm39) |
V413A |
probably damaging |
Het |
| Lrrc40 |
C |
A |
3: 157,742,410 (GRCm39) |
F16L |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 19,432,581 (GRCm39) |
K99E |
probably damaging |
Het |
| Me3 |
A |
G |
7: 89,495,461 (GRCm39) |
I357M |
probably benign |
Het |
| Med30 |
A |
G |
15: 52,582,761 (GRCm39) |
Y66C |
probably benign |
Het |
| Mief2 |
A |
T |
11: 60,621,783 (GRCm39) |
S118C |
probably damaging |
Het |
| Mylip |
A |
G |
13: 45,544,722 (GRCm39) |
S49G |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,528,972 (GRCm39) |
D107V |
probably damaging |
Het |
| Nvl |
C |
A |
1: 180,934,541 (GRCm39) |
V655F |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,508,645 (GRCm39) |
T501I |
probably benign |
Het |
| Ormdl2 |
T |
C |
10: 128,656,186 (GRCm39) |
I40V |
probably benign |
Het |
| Pde6b |
G |
T |
5: 108,568,142 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
C |
12: 55,720,292 (GRCm39) |
L1785W |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,078 (GRCm39) |
|
probably null |
Het |
| Sema4b |
G |
A |
7: 79,866,789 (GRCm39) |
G255D |
probably damaging |
Het |
| Setd1a |
C |
T |
7: 127,394,997 (GRCm39) |
|
probably benign |
Het |
| Sirpb1a |
A |
C |
3: 15,482,111 (GRCm39) |
S72R |
possibly damaging |
Het |
| Slu7 |
T |
A |
11: 43,332,849 (GRCm39) |
|
probably null |
Het |
| Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Suclg1 |
T |
A |
6: 73,237,504 (GRCm39) |
V83E |
probably damaging |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Tap2 |
T |
C |
17: 34,424,432 (GRCm39) |
V55A |
probably damaging |
Het |
| Tekt4 |
T |
C |
17: 25,692,732 (GRCm39) |
I186T |
possibly damaging |
Het |
| Trpc6 |
C |
A |
9: 8,643,602 (GRCm39) |
D462E |
possibly damaging |
Het |
| Ubqln3 |
T |
G |
7: 103,791,170 (GRCm39) |
T307P |
probably damaging |
Het |
| Vmn1r64 |
A |
T |
7: 5,886,727 (GRCm39) |
I272K |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,166,026 (GRCm39) |
T574A |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,247,859 (GRCm39) |
T1021A |
possibly damaging |
Het |
| Zfp512 |
A |
T |
5: 31,628,501 (GRCm39) |
H159L |
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 |
17,781,866 (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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation