Incidental Mutation 'R9295:Sema3c'
| ID |
704537 |
| 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 # |
R9295 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
17779814-17935266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17932495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 666
(M666K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030568]
|
| AlphaFold |
Q62181 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030568
AA Change: M666K
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: M666K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,116 (GRCm39) |
V7E |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,399,938 (GRCm39) |
V156A |
probably benign |
Het |
| Ankrd6 |
A |
T |
4: 32,822,160 (GRCm39) |
V236E |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
C |
A |
7: 100,081,734 (GRCm39) |
D1125E |
|
Het |
| Cacna2d2 |
A |
G |
9: 107,386,419 (GRCm39) |
E182G |
probably benign |
Het |
| Cct3 |
A |
G |
3: 88,212,430 (GRCm39) |
K139E |
probably benign |
Het |
| Cd96 |
G |
T |
16: 45,938,244 (GRCm39) |
Q74K |
probably benign |
Het |
| Cdk5rap1 |
A |
T |
2: 154,194,186 (GRCm39) |
I373N |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,738,051 (GRCm39) |
Y2597* |
probably null |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,290,883 (GRCm39) |
G919E |
probably benign |
Het |
| Col6a4 |
G |
A |
9: 105,957,734 (GRCm39) |
A30V |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,939,823 (GRCm39) |
C655R |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,428,441 (GRCm39) |
V605E |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,811,599 (GRCm39) |
I600T |
possibly damaging |
Het |
| Dhx9 |
C |
A |
1: 153,340,673 (GRCm39) |
V656L |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,363,348 (GRCm39) |
M3970K |
probably benign |
Het |
| Ercc5 |
G |
T |
1: 44,198,017 (GRCm39) |
V145F |
probably damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,979 (GRCm39) |
T127A |
possibly damaging |
Het |
| Fcer1a |
T |
C |
1: 173,050,174 (GRCm39) |
Y172C |
probably damaging |
Het |
| Gabra1 |
A |
G |
11: 42,044,217 (GRCm39) |
M167T |
probably damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,743 (GRCm39) |
H530R |
probably benign |
Het |
| Gli2 |
C |
A |
1: 118,764,996 (GRCm39) |
V1052L |
probably damaging |
Het |
| Gm4491 |
A |
C |
14: 57,351,140 (GRCm39) |
F84C |
unknown |
Het |
| Irf2bp1 |
C |
T |
7: 18,739,740 (GRCm39) |
T460I |
probably benign |
Het |
| Klf3 |
A |
G |
5: 64,980,240 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Krt80 |
T |
C |
15: 101,249,652 (GRCm39) |
E287G |
probably benign |
Het |
| Lama4 |
G |
T |
10: 38,948,747 (GRCm39) |
V837F |
probably damaging |
Het |
| Lrig3 |
G |
T |
10: 125,850,722 (GRCm39) |
C1096F |
probably benign |
Het |
| Mtrr |
T |
C |
13: 68,719,258 (GRCm39) |
R328G |
possibly damaging |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Obsl1 |
A |
T |
1: 75,476,721 (GRCm39) |
D744E |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4x13 |
G |
A |
2: 90,231,441 (GRCm39) |
M145I |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,112,478 (GRCm39) |
T21A |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,513,752 (GRCm39) |
G1003D |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,904,893 (GRCm39) |
T514A |
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,482,231 (GRCm39) |
E115G |
possibly damaging |
Het |
| Pramel20 |
A |
G |
4: 143,298,704 (GRCm39) |
T216A |
possibly damaging |
Het |
| Pxmp2 |
C |
A |
5: 110,433,944 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 22,209,209 (GRCm39) |
L1123P |
possibly damaging |
Het |
| Rusc2 |
T |
C |
4: 43,416,382 (GRCm39) |
S563P |
probably damaging |
Het |
| Secisbp2 |
T |
G |
13: 51,808,483 (GRCm39) |
S83A |
probably damaging |
Het |
| Serbp1 |
G |
T |
6: 67,248,208 (GRCm39) |
D114Y |
probably damaging |
Het |
| Sh3d21 |
T |
A |
4: 126,045,276 (GRCm39) |
T468S |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,098,478 (GRCm39) |
D1319E |
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,051,386 (GRCm39) |
R502G |
unknown |
Het |
| Slc25a12 |
C |
A |
2: 71,128,986 (GRCm39) |
G314C |
possibly damaging |
Het |
| Smg8 |
A |
G |
11: 86,968,789 (GRCm39) |
V989A |
probably benign |
Het |
| Spon2 |
G |
A |
5: 33,373,844 (GRCm39) |
P156S |
probably damaging |
Het |
| Stx1a |
A |
G |
5: 135,066,370 (GRCm39) |
N50S |
probably benign |
Het |
| Tmem151b |
C |
A |
17: 45,857,806 (GRCm39) |
V147L |
probably benign |
Het |
| Trim12c |
C |
T |
7: 103,990,391 (GRCm39) |
G362D |
unknown |
Het |
| Tsr1 |
T |
C |
11: 74,799,135 (GRCm39) |
V772A |
probably damaging |
Het |
| Tti2 |
A |
T |
8: 31,643,550 (GRCm39) |
K222* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,218 (GRCm39) |
M294T |
probably null |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,484 (GRCm39) |
E450G |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,785,955 (GRCm39) |
F253I |
probably benign |
Het |
| Wnk4 |
A |
T |
11: 101,160,078 (GRCm39) |
D649V |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,394,525 (GRCm39) |
S1040P |
probably benign |
Het |
| Zfp112 |
C |
T |
7: 23,824,805 (GRCm39) |
R262C |
probably benign |
Het |
| Zfp287 |
T |
A |
11: 62,606,115 (GRCm39) |
D264V |
probably benign |
Het |
| Zfp46 |
T |
C |
4: 136,017,876 (GRCm39) |
C237R |
probably damaging |
Het |
| Zfp773 |
C |
T |
7: 7,135,694 (GRCm39) |
E301K |
probably benign |
Het |
| Zswim2 |
A |
C |
2: 83,748,304 (GRCm39) |
V292G |
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 |
|
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 |
|
|
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'- GCCTAGCTGTGAAAGTCAACC -3'
(R):5'- GCCTTCAGCTTGCCATAGTC -3'
Sequencing Primer
(F):5'- GCTGTGAAAGTCAACCATGTATTG -3'
(R):5'- AGCTTGCCATAGTCCCCTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation