Incidental Mutation 'R4890:Sema3c'
ID |
377246 |
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 |
042495-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4890 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
17779814-17935266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17880157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 259
(H259L)
|
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: H259L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000030568 Gene: ENSMUSG00000028780 AA Change: H259L
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
Validation Efficiency |
99% (81/82) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
T |
C |
1: 130,668,725 (GRCm39) |
|
probably benign |
Het |
Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
Adgrb3 |
T |
C |
1: 25,260,908 (GRCm39) |
N916S |
probably damaging |
Het |
Aox1 |
T |
C |
1: 58,373,862 (GRCm39) |
V841A |
probably benign |
Het |
Baz2b |
A |
T |
2: 59,756,383 (GRCm39) |
M983K |
probably damaging |
Het |
C2cd2l |
A |
G |
9: 44,222,430 (GRCm39) |
F682L |
probably damaging |
Het |
Ccsap |
T |
G |
8: 124,572,160 (GRCm39) |
E114A |
possibly damaging |
Het |
Cept1 |
T |
A |
3: 106,413,123 (GRCm39) |
T201S |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,883,476 (GRCm39) |
M232V |
probably benign |
Het |
Chsy1 |
A |
G |
7: 65,759,974 (GRCm39) |
R106G |
probably benign |
Het |
Cit |
C |
T |
5: 116,126,182 (GRCm39) |
|
probably benign |
Het |
Cldn7 |
G |
A |
11: 69,857,918 (GRCm39) |
V42I |
probably benign |
Het |
Cnnm4 |
T |
A |
1: 36,511,345 (GRCm39) |
V191E |
probably benign |
Het |
Cntf |
A |
T |
19: 12,741,326 (GRCm39) |
V178D |
possibly damaging |
Het |
Ctsz |
C |
A |
2: 174,270,393 (GRCm39) |
R263L |
probably damaging |
Het |
Dclk1 |
T |
C |
3: 55,429,353 (GRCm39) |
M407T |
probably benign |
Het |
Dennd1a |
A |
T |
2: 38,066,238 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,306,164 (GRCm39) |
I368V |
possibly damaging |
Het |
Gak |
A |
T |
5: 108,728,742 (GRCm39) |
|
probably benign |
Het |
Hepacam2 |
A |
T |
6: 3,487,231 (GRCm39) |
V42D |
probably damaging |
Het |
Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
Insr |
T |
A |
8: 3,248,234 (GRCm39) |
Q437L |
probably benign |
Het |
Itga8 |
G |
A |
2: 12,198,102 (GRCm39) |
|
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,233,868 (GRCm39) |
C732S |
probably benign |
Het |
Kdsr |
T |
C |
1: 106,680,964 (GRCm39) |
K78R |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,414,868 (GRCm39) |
S785P |
possibly damaging |
Het |
Lbr |
C |
A |
1: 181,645,133 (GRCm39) |
L506F |
probably benign |
Het |
Macf1 |
C |
A |
4: 123,342,031 (GRCm39) |
C2720F |
probably damaging |
Het |
Mapt |
G |
A |
11: 104,218,975 (GRCm39) |
D738N |
probably damaging |
Het |
Mroh9 |
T |
C |
1: 162,854,093 (GRCm39) |
Y769C |
probably damaging |
Het |
Mylk2 |
A |
G |
2: 152,762,274 (GRCm39) |
N515S |
possibly damaging |
Het |
Myorg |
G |
A |
4: 41,498,877 (GRCm39) |
T251M |
probably benign |
Het |
Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
Nrxn2 |
A |
T |
19: 6,498,308 (GRCm39) |
S258C |
possibly damaging |
Het |
Nudt16l2 |
A |
T |
9: 105,021,786 (GRCm39) |
S87T |
possibly damaging |
Het |
Or52e15 |
G |
A |
7: 104,645,311 (GRCm39) |
H267Y |
probably benign |
Het |
Or5m12 |
C |
T |
2: 85,735,092 (GRCm39) |
C102Y |
possibly damaging |
Het |
Or6c1b |
C |
T |
10: 129,272,948 (GRCm39) |
T89I |
probably benign |
Het |
Or6z5 |
T |
A |
7: 6,477,848 (GRCm39) |
C246* |
probably null |
Het |
Or8c15 |
G |
T |
9: 38,120,586 (GRCm39) |
C79F |
probably benign |
Het |
Osgin2 |
G |
A |
4: 16,013,739 (GRCm39) |
|
probably benign |
Het |
Otud3 |
G |
A |
4: 138,641,060 (GRCm39) |
R27W |
probably damaging |
Het |
Pcare |
C |
T |
17: 72,059,306 (GRCm39) |
V124I |
possibly damaging |
Het |
Pcdhga12 |
T |
A |
18: 37,901,290 (GRCm39) |
F707L |
possibly damaging |
Het |
Pik3r1 |
T |
C |
13: 101,894,118 (GRCm39) |
E17G |
probably damaging |
Het |
Pramel19 |
A |
G |
4: 101,798,788 (GRCm39) |
E253G |
probably damaging |
Het |
Prickle4 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
17: 48,000,806 (GRCm39) |
|
probably benign |
Het |
Prokr1 |
G |
A |
6: 87,565,678 (GRCm39) |
R56W |
probably benign |
Het |
Ptprz1 |
G |
A |
6: 23,024,957 (GRCm39) |
C1731Y |
probably damaging |
Het |
Rbm15b |
A |
T |
9: 106,763,028 (GRCm39) |
F380Y |
possibly damaging |
Het |
Rfc5 |
G |
A |
5: 117,524,885 (GRCm39) |
L56F |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,090,228 (GRCm39) |
M617L |
probably benign |
Het |
Rusc1 |
T |
C |
3: 88,995,577 (GRCm39) |
|
probably null |
Het |
Sec23ip |
A |
G |
7: 128,354,634 (GRCm39) |
N297D |
probably damaging |
Het |
Sgsm1 |
G |
A |
5: 113,428,328 (GRCm39) |
|
probably benign |
Het |
Shisal2a |
A |
G |
4: 108,224,998 (GRCm39) |
V188A |
probably benign |
Het |
Sipa1l2 |
T |
A |
8: 126,218,606 (GRCm39) |
S244C |
probably damaging |
Het |
Slc39a5 |
T |
C |
10: 128,234,316 (GRCm39) |
I196V |
probably benign |
Het |
Smim22 |
G |
A |
16: 4,825,722 (GRCm39) |
A36T |
probably damaging |
Het |
Spag6 |
A |
G |
2: 18,747,588 (GRCm39) |
I408V |
probably benign |
Het |
Sult2a5 |
A |
G |
7: 13,359,311 (GRCm39) |
I96V |
probably benign |
Het |
Tmcc2 |
C |
A |
1: 132,308,517 (GRCm39) |
A126S |
probably benign |
Het |
Tsc2 |
A |
T |
17: 24,819,009 (GRCm39) |
S1276T |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,788,103 (GRCm39) |
S843G |
probably benign |
Het |
Tubd1 |
G |
C |
11: 86,443,621 (GRCm39) |
V110L |
possibly damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,128,534 (GRCm39) |
V59D |
probably damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,697,024 (GRCm39) |
R687G |
probably damaging |
Het |
Vsig8 |
T |
A |
1: 172,389,142 (GRCm39) |
H131Q |
probably benign |
Het |
Zbtb42 |
C |
A |
12: 112,646,861 (GRCm39) |
Y345* |
probably null |
Het |
Zfp612 |
T |
A |
8: 110,816,576 (GRCm39) |
C594* |
probably null |
Het |
Zfp940 |
A |
G |
7: 29,544,824 (GRCm39) |
V361A |
probably benign |
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 |
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'- CCTGTGTGATACTCTCCATGATG -3'
(R):5'- CTCACACAAACTGTAAAGTGCATG -3'
Sequencing Primer
(F):5'- GCATCTGTGTCTATTTCAAAGAATGG -3'
(R):5'- CACAAACTGTAAAGTGCATGATATAC -3'
|
Posted On |
2016-03-17 |