Incidental Mutation 'R4284:Sema3c'
| ID |
321984 |
| 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 # |
R4284 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
17779814-17935266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17883345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 318
(T318A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030568]
[ENSMUST00000169603]
[ENSMUST00000170181]
|
| AlphaFold |
Q62181 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030568
AA Change: T318A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: T318A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000132330
Gene: ENSMUSG00000028780
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Capg |
T |
C |
6: 72,538,082 (GRCm39) |
Y323H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,139,272 (GRCm39) |
T3314A |
possibly damaging |
Het |
| Cilp |
A |
T |
9: 65,185,560 (GRCm39) |
T552S |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,521,293 (GRCm39) |
|
probably null |
Het |
| Ctu2 |
G |
A |
8: 123,204,978 (GRCm39) |
V88I |
probably benign |
Het |
| Elfn1 |
A |
T |
5: 139,958,069 (GRCm39) |
K358* |
probably null |
Het |
| Enpp6 |
T |
C |
8: 47,522,050 (GRCm39) |
F328S |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,231 (GRCm39) |
L163P |
probably damaging |
Het |
| Gcfc2 |
G |
A |
6: 81,918,372 (GRCm39) |
R354H |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
C |
T |
1: 131,203,515 (GRCm39) |
|
probably null |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Jmjd6 |
T |
C |
11: 116,733,534 (GRCm39) |
R48G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,911,803 (GRCm39) |
H285R |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,310,438 (GRCm39) |
R2712C |
possibly damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Relch |
A |
G |
1: 105,649,012 (GRCm39) |
D717G |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Sox5 |
T |
C |
6: 143,781,055 (GRCm39) |
K570E |
probably damaging |
Het |
| Ssbp1 |
T |
G |
6: 40,454,851 (GRCm39) |
|
probably null |
Het |
| Sult5a1 |
A |
G |
8: 123,875,969 (GRCm39) |
S116P |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,808 (GRCm39) |
D455E |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,780 (GRCm39) |
Y204C |
probably damaging |
Het |
| Tmem161a |
A |
G |
8: 70,630,076 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,623,211 (GRCm39) |
K13663* |
probably null |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
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 |
|
R3934:Sema3c
|
UTSW |
5 |
17,886,938 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- CAAGCGTGTATCATCACATTATACC -3'
(R):5'- TGTGCTACCACTGCCAAAATTC -3'
Sequencing Primer
(F):5'- CCAAATTGTATTGATCTCCAGAAGC -3'
(R):5'- CCATCATTACTAAAACCTAGGATTCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation