Incidental Mutation 'R5647:Sema3e'
| ID |
501302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sema3e
|
| Ensembl Gene |
ENSMUSG00000063531 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E |
| Synonyms |
Semah |
| MMRRC Submission |
043295-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.509)
|
| Stock # |
R5647 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
14075290-14306703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14275567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 224
(E224V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073957]
|
| AlphaFold |
P70275 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073957
AA Change: E224V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073612
Gene: ENSMUSG00000063531
AA Change: E224V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Sema
|
58 |
500 |
1.85e-194 |
SMART |
|
PSI
|
518 |
573 |
1.81e-10 |
SMART |
|
IG
|
587 |
673 |
5.75e-4 |
SMART |
|
low complexity region
|
737 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199698
|
| Meta Mutation Damage Score |
0.6288 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
95% (55/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice display abnormal intersomitic vacular development and loss of the normal segmented somite pattern. Homozygous mutants for another allele have Bergmeister papillae on the surface of the optic disc. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010L04Rik |
T |
C |
7: 82,505,606 (GRCm39) |
|
noncoding transcript |
Het |
| 9330159F19Rik |
A |
T |
10: 29,101,250 (GRCm39) |
D541V |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,218,597 (GRCm39) |
I262V |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,185,976 (GRCm39) |
D169V |
probably damaging |
Het |
| Aldh16a1 |
A |
G |
7: 44,803,889 (GRCm39) |
V6A |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,731,210 (GRCm39) |
S601P |
possibly damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,763 (GRCm39) |
S113A |
probably damaging |
Het |
| Cdt1 |
G |
T |
8: 123,296,947 (GRCm39) |
R247L |
possibly damaging |
Het |
| Ces4a |
G |
A |
8: 105,872,712 (GRCm39) |
V322M |
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,364,266 (GRCm39) |
T157S |
possibly damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,010 (GRCm39) |
|
probably benign |
Het |
| Ctr9 |
G |
T |
7: 110,654,751 (GRCm39) |
R1094L |
unknown |
Het |
| Cyld |
A |
T |
8: 89,461,554 (GRCm39) |
I664L |
probably benign |
Het |
| Dvl2 |
C |
T |
11: 69,900,275 (GRCm39) |
P690S |
possibly damaging |
Het |
| Fbxo7 |
A |
C |
10: 85,864,974 (GRCm39) |
E94D |
probably damaging |
Het |
| Fstl5 |
A |
C |
3: 76,496,399 (GRCm39) |
K387N |
probably damaging |
Het |
| Gm9845 |
A |
C |
3: 39,412,520 (GRCm39) |
|
noncoding transcript |
Het |
| Hk1 |
T |
C |
10: 62,111,523 (GRCm39) |
D746G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,468,391 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,350,258 (GRCm39) |
A705T |
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,508,300 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,952,067 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
A |
11: 115,762,337 (GRCm39) |
L1219Q |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Or4g16 |
G |
T |
2: 111,137,392 (GRCm39) |
A281S |
possibly damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,553 (GRCm39) |
I32N |
probably damaging |
Het |
| Or5b113 |
T |
C |
19: 13,342,541 (GRCm39) |
V183A |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,221,675 (GRCm39) |
T1984A |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,593,588 (GRCm39) |
L251P |
probably benign |
Het |
| Plin1 |
T |
A |
7: 79,371,320 (GRCm39) |
D468V |
probably benign |
Het |
| Pmp2 |
A |
G |
3: 10,248,845 (GRCm39) |
V12A |
probably benign |
Het |
| Rnf19a |
T |
A |
15: 36,266,109 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
G |
A |
9: 45,779,344 (GRCm39) |
Q469* |
probably null |
Het |
| Rrp1b |
T |
G |
17: 32,274,985 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
| Sphkap |
A |
G |
1: 83,385,720 (GRCm39) |
S5P |
probably damaging |
Het |
| Stab1 |
A |
C |
14: 30,879,397 (GRCm39) |
Y694* |
probably null |
Het |
| Stambpl1 |
T |
C |
19: 34,211,686 (GRCm39) |
L249P |
probably benign |
Het |
| Thap4 |
A |
T |
1: 93,642,665 (GRCm39) |
H515Q |
probably damaging |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Uaca |
A |
G |
9: 60,779,380 (GRCm39) |
R1256G |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,489,881 (GRCm39) |
N348Y |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,314 (GRCm39) |
I85T |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,975,598 (GRCm39) |
L149Q |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,809,694 (GRCm39) |
I153N |
probably damaging |
Het |
| Zfp207 |
G |
A |
11: 80,283,959 (GRCm39) |
S293N |
possibly damaging |
Het |
| Zfp346 |
A |
G |
13: 55,270,170 (GRCm39) |
D198G |
probably damaging |
Het |
| Zfp953 |
A |
T |
13: 67,491,536 (GRCm39) |
C139S |
possibly damaging |
Het |
|
| Other mutations in Sema3e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Sema3e
|
APN |
5 |
14,290,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01068:Sema3e
|
APN |
5 |
14,283,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01128:Sema3e
|
APN |
5 |
14,282,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01134:Sema3e
|
APN |
5 |
14,302,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02013:Sema3e
|
APN |
5 |
14,280,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02051:Sema3e
|
APN |
5 |
14,274,324 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02309:Sema3e
|
APN |
5 |
14,274,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02636:Sema3e
|
APN |
5 |
14,275,670 (GRCm39) |
missense |
probably benign |
|
|
IGL02702:Sema3e
|
APN |
5 |
14,283,740 (GRCm39) |
splice site |
probably benign |
|
|
IGL03001:Sema3e
|
APN |
5 |
14,291,057 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0011:Sema3e
|
UTSW |
5 |
14,194,025 (GRCm39) |
nonsense |
probably null |
|
|
R0098:Sema3e
|
UTSW |
5 |
14,302,446 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0098:Sema3e
|
UTSW |
5 |
14,302,446 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0220:Sema3e
|
UTSW |
5 |
14,214,167 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0564:Sema3e
|
UTSW |
5 |
14,286,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1079:Sema3e
|
UTSW |
5 |
14,275,669 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1187:Sema3e
|
UTSW |
5 |
14,282,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Sema3e
|
UTSW |
5 |
14,212,199 (GRCm39) |
splice site |
probably benign |
|
|
R1736:Sema3e
|
UTSW |
5 |
14,260,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3433:Sema3e
|
UTSW |
5 |
14,302,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3831:Sema3e
|
UTSW |
5 |
14,276,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Sema3e
|
UTSW |
5 |
14,283,704 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4580:Sema3e
|
UTSW |
5 |
14,283,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Sema3e
|
UTSW |
5 |
14,276,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Sema3e
|
UTSW |
5 |
14,280,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4884:Sema3e
|
UTSW |
5 |
14,275,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Sema3e
|
UTSW |
5 |
14,302,646 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5264:Sema3e
|
UTSW |
5 |
14,276,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Sema3e
|
UTSW |
5 |
14,286,099 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5512:Sema3e
|
UTSW |
5 |
14,280,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Sema3e
|
UTSW |
5 |
14,212,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Sema3e
|
UTSW |
5 |
14,275,680 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5993:Sema3e
|
UTSW |
5 |
14,274,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6076:Sema3e
|
UTSW |
5 |
14,291,100 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6906:Sema3e
|
UTSW |
5 |
14,290,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Sema3e
|
UTSW |
5 |
14,274,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8738:Sema3e
|
UTSW |
5 |
14,214,169 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8849:Sema3e
|
UTSW |
5 |
14,302,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8879:Sema3e
|
UTSW |
5 |
14,282,108 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8935:Sema3e
|
UTSW |
5 |
14,282,127 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9071:Sema3e
|
UTSW |
5 |
14,282,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9100:Sema3e
|
UTSW |
5 |
14,282,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9367:Sema3e
|
UTSW |
5 |
14,291,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9444:Sema3e
|
UTSW |
5 |
14,302,625 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9478:Sema3e
|
UTSW |
5 |
14,286,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Sema3e
|
UTSW |
5 |
14,302,397 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9671:Sema3e
|
UTSW |
5 |
14,212,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0064:Sema3e
|
UTSW |
5 |
14,280,156 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1088:Sema3e
|
UTSW |
5 |
14,276,470 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Sema3e
|
UTSW |
5 |
14,075,725 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAACCCTGACTCTTACGG -3'
(R):5'- AAAGCATAACGCCATGGTCG -3'
Sequencing Primer
(F):5'- CACAAGTGGATGACACTTTG -3'
(R):5'- CAGCGCCTTCTCAGTAAA -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation