Incidental Mutation 'R8437:Sema3c'
| ID |
654037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sema3c
|
| Ensembl Gene |
ENSMUSG00000028780 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C |
| Synonyms |
1110036B02Rik, Semae |
| MMRRC Submission |
067901-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
17574281-17730268 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 17662938 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 116
(V116F)
|
| 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: V116F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: V116F
| 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: V116F
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132330
Gene: ENSMUSG00000028780
AA Change: V116F
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
C |
7: 79,348,430 (GRCm38) |
Y237H |
probably damaging |
Het |
| Adprh |
T |
C |
16: 38,446,087 (GRCm38) |
E231G |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,030,705 (GRCm38) |
S631G |
probably benign |
Het |
| Bpifa5 |
T |
A |
2: 154,165,606 (GRCm38) |
L156H |
probably damaging |
Het |
| Bsn |
G |
A |
9: 108,111,452 (GRCm38) |
A2367V |
probably benign |
Het |
| C8b |
T |
C |
4: 104,786,843 (GRCm38) |
Y236H |
probably damaging |
Het |
| Celf2 |
C |
T |
2: 6,547,145 (GRCm38) |
G508S |
probably damaging |
Het |
| Clca1 |
T |
C |
3: 145,005,061 (GRCm38) |
T794A |
probably benign |
Het |
| Col27a1 |
T |
A |
4: 63,319,464 (GRCm38) |
|
probably benign |
Het |
| Cyp2j12 |
C |
T |
4: 96,099,662 (GRCm38) |
C497Y |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 78,052,768 (GRCm38) |
I168T |
possibly damaging |
Het |
| Dtna |
C |
T |
18: 23,590,341 (GRCm38) |
Q201* |
probably null |
Het |
| Fetub |
T |
C |
16: 22,934,235 (GRCm38) |
S146P |
possibly damaging |
Het |
| Gak |
T |
G |
5: 108,609,406 (GRCm38) |
E242D |
probably benign |
Het |
| Gfpt2 |
T |
A |
11: 49,804,867 (GRCm38) |
|
probably benign |
Het |
| Ginm1 |
C |
T |
10: 7,770,366 (GRCm38) |
C290Y |
probably benign |
Het |
| Hepacam |
T |
C |
9: 37,384,710 (GRCm38) |
S386P |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,391,076 (GRCm38) |
L1867I |
probably benign |
Het |
| Hnrnpa3 |
T |
G |
2: 75,662,675 (GRCm38) |
S220A |
unknown |
Het |
| Hydin |
A |
G |
8: 110,462,735 (GRCm38) |
E1257G |
probably damaging |
Het |
| Ier3ip1 |
C |
T |
18: 76,930,178 (GRCm38) |
A18V |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,094,677 (GRCm38) |
C1361S |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,652,143 (GRCm38) |
Q955R |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,107,303 (GRCm38) |
M1349R |
probably damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,926,234 (GRCm38) |
V316I |
probably benign |
Het |
| March6 |
A |
G |
15: 31,482,549 (GRCm38) |
I501T |
possibly damaging |
Het |
| Msl2 |
T |
A |
9: 101,100,968 (GRCm38) |
S180R |
probably benign |
Het |
| Muc16 |
C |
T |
9: 18,657,924 (GRCm38) |
V1100I |
unknown |
Het |
| Nbas |
T |
C |
12: 13,566,250 (GRCm38) |
V2263A |
possibly damaging |
Het |
| Olfr1416 |
C |
T |
1: 92,480,465 (GRCm38) |
S52N |
probably benign |
Het |
| Olfr853 |
C |
T |
9: 19,537,537 (GRCm38) |
R131H |
probably benign |
Het |
| Pdilt |
T |
G |
7: 119,514,886 (GRCm38) |
I130L |
possibly damaging |
Het |
| Phldb3 |
A |
G |
7: 24,628,950 (GRCm38) |
T640A |
probably damaging |
Het |
| Pole2 |
G |
C |
12: 69,204,187 (GRCm38) |
Y467* |
probably null |
Het |
| Pxdn |
C |
T |
12: 30,002,044 (GRCm38) |
T740M |
probably damaging |
Het |
| Rabac1 |
T |
C |
7: 24,972,247 (GRCm38) |
I83V |
probably damaging |
Het |
| Rrp7a |
T |
C |
15: 83,117,572 (GRCm38) |
Q245R |
probably damaging |
Het |
| Sae1 |
A |
G |
7: 16,370,354 (GRCm38) |
V110A |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,265,704 (GRCm38) |
Y200C |
probably damaging |
Het |
| Slc25a45 |
C |
T |
19: 5,880,107 (GRCm38) |
T35M |
probably benign |
Het |
| Speer4b |
C |
T |
5: 27,498,820 (GRCm38) |
R107Q |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,364,858 (GRCm38) |
T843A |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,332,560 (GRCm38) |
I2004F |
probably damaging |
Het |
| Tma16 |
T |
C |
8: 66,476,796 (GRCm38) |
D182G |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,781,362 (GRCm38) |
Y1167* |
probably null |
Het |
| Uck1 |
C |
A |
2: 32,260,141 (GRCm38) |
|
probably benign |
Het |
| Usp25 |
A |
G |
16: 77,033,912 (GRCm38) |
T19A |
probably damaging |
Het |
| Vpreb2 |
G |
A |
16: 17,980,889 (GRCm38) |
G80S |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 33,076,375 (GRCm38) |
C2025R |
|
Het |
| Zyg11a |
T |
A |
4: 108,217,906 (GRCm38) |
H6L |
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 |
|
IGL02657:Sema3c
|
APN |
5 |
17,576,868 (GRCm38) |
start codon destroyed |
possibly damaging |
0.71 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGTGTTTCCAGATTCCC -3'
(R):5'- TAGCTTGGCTTGACAGACAAC -3'
Sequencing Primer
(F):5'- GGGTGTTTCCAGATTCCCTTTACAAG -3'
(R):5'- CACTGACAAACCCAAATCTTTAATTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation