Incidental Mutation 'R6416:Sema3c'
ID |
517915 |
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 |
044558-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6416 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
17779814-17935266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17781959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 32
(T32A)
|
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: T32A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030568 Gene: ENSMUSG00000028780 AA Change: T32A
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: T32A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000132330 Gene: ENSMUSG00000028780 AA Change: T32A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:Sema
|
54 |
226 |
9.6e-65 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170181
AA Change: T32A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170348
|
Meta Mutation Damage Score |
0.0675 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.4%
- 20x: 94.6%
|
Validation Efficiency |
99% (67/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
C |
A |
16: 88,504,779 (GRCm39) |
R6L |
unknown |
Het |
Anxa11 |
A |
G |
14: 25,874,694 (GRCm39) |
Q235R |
possibly damaging |
Het |
Ap2b1 |
T |
A |
11: 83,199,065 (GRCm39) |
M1K |
probably null |
Het |
Atl2 |
G |
A |
17: 80,157,652 (GRCm39) |
T563I |
probably benign |
Het |
Azin1 |
A |
T |
15: 38,492,587 (GRCm39) |
S307R |
possibly damaging |
Het |
Ccdc153 |
A |
G |
9: 44,157,077 (GRCm39) |
T118A |
probably benign |
Het |
Chac1 |
G |
A |
2: 119,184,015 (GRCm39) |
V206I |
probably damaging |
Het |
Chrm3 |
A |
G |
13: 9,927,698 (GRCm39) |
V446A |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,123,648 (GRCm39) |
F467S |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 48,536,956 (GRCm39) |
P82L |
probably damaging |
Het |
Ddx60 |
T |
A |
8: 62,430,984 (GRCm39) |
S840T |
probably benign |
Het |
Ddx60 |
C |
T |
8: 62,451,715 (GRCm39) |
H1202Y |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,984,609 (GRCm39) |
N3102K |
probably benign |
Het |
Dst |
A |
T |
1: 34,155,209 (GRCm39) |
K85M |
probably damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,768,785 (GRCm39) |
I839M |
probably benign |
Het |
Fam184b |
T |
A |
5: 45,694,995 (GRCm39) |
M750L |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,479,799 (GRCm39) |
T1965A |
probably benign |
Het |
Ftl1 |
A |
T |
7: 45,108,634 (GRCm39) |
D41E |
probably benign |
Het |
Garem2 |
G |
A |
5: 30,321,735 (GRCm39) |
W698* |
probably null |
Het |
Glt8d2 |
T |
C |
10: 82,488,740 (GRCm39) |
Y283C |
probably damaging |
Het |
Hars1 |
T |
C |
18: 36,906,643 (GRCm39) |
E109G |
possibly damaging |
Het |
Hspb9 |
T |
C |
11: 100,605,036 (GRCm39) |
S121P |
probably damaging |
Het |
Hus1b |
A |
T |
13: 31,131,188 (GRCm39) |
L157Q |
probably damaging |
Het |
Hykk |
A |
G |
9: 54,853,643 (GRCm39) |
M322V |
probably benign |
Het |
Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
Il17f |
T |
A |
1: 20,848,131 (GRCm39) |
M116L |
probably benign |
Het |
Kif22 |
T |
C |
7: 126,628,104 (GRCm39) |
K9E |
possibly damaging |
Het |
Krt90 |
T |
C |
15: 101,467,679 (GRCm39) |
E233G |
probably benign |
Het |
Lipg |
T |
C |
18: 75,090,307 (GRCm39) |
M81V |
probably benign |
Het |
Mocos |
C |
T |
18: 24,834,513 (GRCm39) |
S850L |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,059,713 (GRCm39) |
S1364T |
probably damaging |
Het |
Neb |
A |
T |
2: 52,075,340 (GRCm39) |
N208K |
probably benign |
Het |
Oca2 |
G |
T |
7: 55,978,515 (GRCm39) |
R561L |
probably benign |
Het |
Olfm5 |
A |
G |
7: 103,803,260 (GRCm39) |
L401P |
probably damaging |
Het |
Or12d17 |
T |
A |
17: 37,777,971 (GRCm39) |
Y291* |
probably null |
Het |
Or2t49 |
T |
C |
11: 58,393,166 (GRCm39) |
D72G |
probably damaging |
Het |
Or4a39 |
C |
A |
2: 89,236,866 (GRCm39) |
A186S |
possibly damaging |
Het |
Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
Or8g33 |
T |
A |
9: 39,338,187 (GRCm39) |
Y60F |
probably damaging |
Het |
Oxgr1 |
T |
C |
14: 120,259,860 (GRCm39) |
N116D |
probably damaging |
Het |
Pcdha11 |
G |
T |
18: 37,145,222 (GRCm39) |
|
probably null |
Het |
Pi4ka |
T |
C |
16: 17,176,186 (GRCm39) |
I418V |
probably benign |
Het |
Pih1d2 |
T |
C |
9: 50,529,909 (GRCm39) |
V62A |
probably benign |
Het |
Pkib |
T |
A |
10: 57,604,234 (GRCm39) |
V46E |
probably damaging |
Het |
Pum1 |
A |
G |
4: 130,455,598 (GRCm39) |
|
probably null |
Het |
Rbak |
G |
T |
5: 143,162,307 (GRCm39) |
Q19K |
possibly damaging |
Het |
Shprh |
T |
C |
10: 11,043,617 (GRCm39) |
W835R |
probably damaging |
Het |
Sis |
T |
G |
3: 72,819,187 (GRCm39) |
K1456N |
probably damaging |
Het |
Slc4a4 |
A |
T |
5: 89,327,588 (GRCm39) |
N675I |
probably benign |
Het |
Slc8a3 |
C |
A |
12: 81,362,401 (GRCm39) |
M139I |
probably damaging |
Het |
Sorcs3 |
T |
C |
19: 48,791,198 (GRCm39) |
F1182S |
probably damaging |
Het |
St8sia2 |
A |
T |
7: 73,621,669 (GRCm39) |
I96N |
probably damaging |
Het |
Stx19 |
T |
C |
16: 62,642,420 (GRCm39) |
S79P |
probably damaging |
Het |
Tecta |
C |
T |
9: 42,286,563 (GRCm39) |
V698M |
probably damaging |
Het |
Timm22 |
T |
C |
11: 76,301,965 (GRCm39) |
S150P |
probably damaging |
Het |
Tjp1 |
C |
T |
7: 64,962,953 (GRCm39) |
D995N |
possibly damaging |
Het |
Tmem135 |
T |
A |
7: 88,797,002 (GRCm39) |
T365S |
probably benign |
Het |
Tmem174 |
T |
C |
13: 98,773,489 (GRCm39) |
T114A |
probably benign |
Het |
Tnc |
A |
G |
4: 63,926,053 (GRCm39) |
I909T |
probably benign |
Het |
Trcg1 |
A |
G |
9: 57,148,613 (GRCm39) |
I62V |
possibly damaging |
Het |
Tulp1 |
A |
T |
17: 28,575,005 (GRCm39) |
*487K |
probably null |
Het |
Unc79 |
T |
A |
12: 103,097,905 (GRCm39) |
V1826E |
possibly damaging |
Het |
Vmn2r13 |
A |
T |
5: 109,321,982 (GRCm39) |
N238K |
probably damaging |
Het |
Vmn2r22 |
T |
A |
6: 123,614,697 (GRCm39) |
N298Y |
probably damaging |
Het |
Vmn2r23 |
T |
A |
6: 123,689,861 (GRCm39) |
F246I |
probably damaging |
Het |
Vps9d1 |
A |
C |
8: 123,975,378 (GRCm39) |
V194G |
probably damaging |
Het |
Zfp260 |
A |
T |
7: 29,804,235 (GRCm39) |
H45L |
possibly damaging |
Het |
Zfp846 |
A |
T |
9: 20,505,016 (GRCm39) |
H292L |
possibly 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 |
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 |
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'- GCTGCGTTTCTCAAAGCTG -3'
(R):5'- CCTCCAATGCAATGCTGACC -3'
Sequencing Primer
(F):5'- GCTGTTATCTCTGGTTACCAAAAAG -3'
(R):5'- GCTGACCGATAATAAATATCATGGC -3'
|
Posted On |
2018-05-24 |