Incidental Mutation 'IGL02346:Sema5b'
ID |
289267 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sema5b
|
Ensembl Gene |
ENSMUSG00000052133 |
Gene Name |
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B |
Synonyms |
SemG, SemG, Semag |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02346
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
35361517-35485103 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35470125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 329
(V329D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050625]
[ENSMUST00000120756]
|
AlphaFold |
Q60519 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050625
AA Change: V329D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057494 Gene: ENSMUSG00000052133 AA Change: V329D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Sema
|
68 |
479 |
1.68e-174 |
SMART |
PSI
|
497 |
544 |
9.18e-12 |
SMART |
TSP1
|
609 |
662 |
3.34e-15 |
SMART |
TSP1
|
667 |
713 |
3.42e-12 |
SMART |
TSP1
|
798 |
850 |
1.58e-16 |
SMART |
TSP1
|
855 |
907 |
2.45e-13 |
SMART |
TSP1
|
910 |
957 |
1.02e-1 |
SMART |
transmembrane domain
|
977 |
999 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120756
AA Change: V329D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112536 Gene: ENSMUSG00000052133 AA Change: V329D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Sema
|
68 |
479 |
1.68e-174 |
SMART |
PSI
|
497 |
544 |
9.18e-12 |
SMART |
TSP1
|
609 |
662 |
3.34e-15 |
SMART |
TSP1
|
667 |
742 |
7.61e-10 |
SMART |
TSP1
|
827 |
879 |
1.58e-16 |
SMART |
TSP1
|
884 |
936 |
2.45e-13 |
SMART |
TSP1
|
939 |
986 |
1.02e-1 |
SMART |
transmembrane domain
|
1006 |
1028 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133554
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] PHENOTYPE: Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,376,760 (GRCm39) |
I1948F |
probably damaging |
Het |
Adgre1 |
T |
C |
17: 57,750,919 (GRCm39) |
V531A |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,601,271 (GRCm39) |
|
probably benign |
Het |
Api5 |
A |
T |
2: 94,257,875 (GRCm39) |
F125I |
possibly damaging |
Het |
Arhgap21 |
A |
G |
2: 20,884,762 (GRCm39) |
|
probably benign |
Het |
Atp13a5 |
T |
A |
16: 29,146,554 (GRCm39) |
K247* |
probably null |
Het |
Col9a1 |
C |
T |
1: 24,262,690 (GRCm39) |
A585V |
probably damaging |
Het |
Eef1akmt3 |
A |
G |
10: 126,868,805 (GRCm39) |
V223A |
probably benign |
Het |
Eml1 |
T |
C |
12: 108,503,700 (GRCm39) |
S766P |
possibly damaging |
Het |
Fam13b |
G |
T |
18: 34,595,158 (GRCm39) |
A402E |
probably benign |
Het |
Gad2 |
A |
G |
2: 22,519,951 (GRCm39) |
|
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,274,369 (GRCm39) |
E1859G |
probably damaging |
Het |
Gli3 |
T |
G |
13: 15,898,278 (GRCm39) |
V786G |
probably damaging |
Het |
Gm5592 |
A |
G |
7: 40,938,889 (GRCm39) |
S724G |
probably damaging |
Het |
Hgs |
A |
G |
11: 120,373,377 (GRCm39) |
Y634C |
probably damaging |
Het |
Hoxa3 |
T |
A |
6: 52,147,579 (GRCm39) |
|
probably benign |
Het |
Id4 |
C |
A |
13: 48,415,189 (GRCm39) |
Y72* |
probably null |
Het |
Il5ra |
T |
A |
6: 106,719,619 (GRCm39) |
E71D |
probably benign |
Het |
Kcnh4 |
G |
A |
11: 100,647,768 (GRCm39) |
T168M |
possibly damaging |
Het |
Kdm3b |
A |
T |
18: 34,967,291 (GRCm39) |
I1699L |
probably damaging |
Het |
Madd |
A |
G |
2: 90,992,836 (GRCm39) |
Y1048H |
probably damaging |
Het |
Mix23 |
T |
C |
16: 35,912,205 (GRCm39) |
V87A |
probably damaging |
Het |
Nr2f1 |
C |
A |
13: 78,343,527 (GRCm39) |
V246L |
probably damaging |
Het |
Oas2 |
A |
T |
5: 120,874,153 (GRCm39) |
I560N |
probably benign |
Het |
Or1j17 |
A |
T |
2: 36,578,016 (GRCm39) |
M1L |
probably benign |
Het |
Or1m1 |
T |
C |
9: 18,666,065 (GRCm39) |
I289V |
probably damaging |
Het |
Or8g19 |
T |
C |
9: 39,055,939 (GRCm39) |
L181P |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,727,552 (GRCm39) |
|
probably benign |
Het |
Pdss2 |
T |
C |
10: 43,221,639 (GRCm39) |
F184L |
possibly damaging |
Het |
Prpf39 |
C |
T |
12: 65,104,510 (GRCm39) |
T525I |
probably benign |
Het |
Ralgps1 |
A |
T |
2: 33,047,782 (GRCm39) |
|
probably null |
Het |
Rasal3 |
A |
G |
17: 32,618,323 (GRCm39) |
W161R |
probably damaging |
Het |
Serpinb9g |
A |
T |
13: 33,670,514 (GRCm39) |
M1L |
probably benign |
Het |
Sptb |
C |
T |
12: 76,667,788 (GRCm39) |
D770N |
probably damaging |
Het |
Tdp2 |
T |
C |
13: 25,025,335 (GRCm39) |
V368A |
possibly damaging |
Het |
Uggt1 |
A |
G |
1: 36,218,751 (GRCm39) |
S59P |
probably benign |
Het |
Vmn2r130 |
T |
C |
17: 23,280,501 (GRCm39) |
V54A |
possibly damaging |
Het |
Vmn2r9 |
T |
A |
5: 108,990,850 (GRCm39) |
N837I |
probably benign |
Het |
Wdr7 |
A |
T |
18: 63,998,407 (GRCm39) |
E1118V |
probably benign |
Het |
Wwox |
A |
G |
8: 115,438,858 (GRCm39) |
H308R |
probably benign |
Het |
Zbtb41 |
C |
A |
1: 139,374,838 (GRCm39) |
P766Q |
probably damaging |
Het |
|
Other mutations in Sema5b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00901:Sema5b
|
APN |
16 |
35,471,685 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01584:Sema5b
|
APN |
16 |
35,465,793 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01859:Sema5b
|
APN |
16 |
35,467,479 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02195:Sema5b
|
APN |
16 |
35,480,849 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02850:Sema5b
|
APN |
16 |
35,480,885 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03277:Sema5b
|
APN |
16 |
35,471,682 (GRCm39) |
missense |
probably damaging |
0.96 |
R0101:Sema5b
|
UTSW |
16 |
35,483,472 (GRCm39) |
splice site |
probably benign |
|
R0368:Sema5b
|
UTSW |
16 |
35,448,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R0426:Sema5b
|
UTSW |
16 |
35,466,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R0675:Sema5b
|
UTSW |
16 |
35,480,703 (GRCm39) |
missense |
probably benign |
0.00 |
R0905:Sema5b
|
UTSW |
16 |
35,443,001 (GRCm39) |
missense |
probably benign |
0.33 |
R1163:Sema5b
|
UTSW |
16 |
35,448,466 (GRCm39) |
missense |
probably benign |
0.19 |
R1195:Sema5b
|
UTSW |
16 |
35,472,030 (GRCm39) |
missense |
probably null |
0.94 |
R1195:Sema5b
|
UTSW |
16 |
35,472,030 (GRCm39) |
missense |
probably null |
0.94 |
R1666:Sema5b
|
UTSW |
16 |
35,478,852 (GRCm39) |
missense |
probably benign |
0.03 |
R1706:Sema5b
|
UTSW |
16 |
35,470,125 (GRCm39) |
missense |
probably damaging |
0.98 |
R1733:Sema5b
|
UTSW |
16 |
35,466,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:Sema5b
|
UTSW |
16 |
35,480,694 (GRCm39) |
missense |
probably benign |
|
R2215:Sema5b
|
UTSW |
16 |
35,480,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R2844:Sema5b
|
UTSW |
16 |
35,480,301 (GRCm39) |
missense |
probably damaging |
0.98 |
R3086:Sema5b
|
UTSW |
16 |
35,443,093 (GRCm39) |
missense |
probably benign |
|
R3613:Sema5b
|
UTSW |
16 |
35,480,520 (GRCm39) |
missense |
probably benign |
|
R4774:Sema5b
|
UTSW |
16 |
35,483,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R5743:Sema5b
|
UTSW |
16 |
35,478,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R5856:Sema5b
|
UTSW |
16 |
35,466,756 (GRCm39) |
nonsense |
probably null |
|
R5993:Sema5b
|
UTSW |
16 |
35,466,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R6248:Sema5b
|
UTSW |
16 |
35,448,377 (GRCm39) |
splice site |
probably null |
|
R6420:Sema5b
|
UTSW |
16 |
35,483,516 (GRCm39) |
missense |
probably benign |
0.08 |
R6795:Sema5b
|
UTSW |
16 |
35,478,941 (GRCm39) |
nonsense |
probably null |
|
R6825:Sema5b
|
UTSW |
16 |
35,448,377 (GRCm39) |
splice site |
probably null |
|
R7066:Sema5b
|
UTSW |
16 |
35,471,682 (GRCm39) |
missense |
probably benign |
0.26 |
R7244:Sema5b
|
UTSW |
16 |
35,480,915 (GRCm39) |
missense |
probably benign |
|
R7446:Sema5b
|
UTSW |
16 |
35,467,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R7497:Sema5b
|
UTSW |
16 |
35,481,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Sema5b
|
UTSW |
16 |
35,471,540 (GRCm39) |
missense |
probably benign |
0.05 |
R7878:Sema5b
|
UTSW |
16 |
35,481,996 (GRCm39) |
missense |
probably benign |
0.00 |
R7922:Sema5b
|
UTSW |
16 |
35,478,626 (GRCm39) |
frame shift |
probably null |
|
R8397:Sema5b
|
UTSW |
16 |
35,471,691 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8537:Sema5b
|
UTSW |
16 |
35,471,979 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8929:Sema5b
|
UTSW |
16 |
35,467,737 (GRCm39) |
intron |
probably benign |
|
R9262:Sema5b
|
UTSW |
16 |
35,453,223 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9389:Sema5b
|
UTSW |
16 |
35,466,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R9579:Sema5b
|
UTSW |
16 |
35,467,582 (GRCm39) |
missense |
probably benign |
0.01 |
R9623:Sema5b
|
UTSW |
16 |
35,443,121 (GRCm39) |
missense |
possibly damaging |
0.74 |
Z1088:Sema5b
|
UTSW |
16 |
35,480,960 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Sema5b
|
UTSW |
16 |
35,470,234 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Sema5b
|
UTSW |
16 |
35,466,643 (GRCm39) |
missense |
probably benign |
0.05 |
Z1176:Sema5b
|
UTSW |
16 |
35,448,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |