Incidental Mutation 'R8929:Sema5b'
| ID |
700956 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
068773-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8929 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
35361517-35485103 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 35467737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050625]
[ENSMUST00000120756]
|
| AlphaFold |
Q60519 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050625
|
| SMART Domains |
Protein: ENSMUSP00000057494
Gene: ENSMUSG00000052133
| 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 benign
Transcript: ENSMUST00000120756
|
| SMART Domains |
Protein: ENSMUSP00000112536
Gene: ENSMUSG00000052133
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1 |
A |
G |
2: 179,814,730 (GRCm39) |
K99E |
unknown |
Het |
| Agxt2 |
C |
A |
15: 10,393,830 (GRCm39) |
L375I |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,258,752 (GRCm39) |
S459P |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,479,203 (GRCm39) |
T1471S |
probably damaging |
Het |
| Atxn2l |
C |
G |
7: 126,092,928 (GRCm39) |
|
probably benign |
Het |
| Azi2 |
C |
A |
9: 117,879,044 (GRCm39) |
T141K |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,821,422 (GRCm39) |
S369P |
possibly damaging |
Het |
| BC051019 |
C |
T |
7: 109,315,233 (GRCm39) |
E341K |
probably damaging |
Het |
| Bdh1 |
G |
A |
16: 31,275,712 (GRCm39) |
D278N |
probably benign |
Het |
| Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
| Cdipt |
T |
G |
7: 126,578,825 (GRCm39) |
D205E |
probably damaging |
Het |
| Clec4b1 |
G |
T |
6: 123,046,728 (GRCm39) |
|
probably null |
Het |
| Clip4 |
T |
C |
17: 72,138,203 (GRCm39) |
L467S |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,298 (GRCm39) |
I154T |
probably benign |
Het |
| Cyp2j5 |
T |
C |
4: 96,546,977 (GRCm39) |
N179S |
possibly damaging |
Het |
| Dpf1 |
A |
T |
7: 29,009,174 (GRCm39) |
I100F |
probably benign |
Het |
| Dppa5a |
A |
G |
9: 78,275,165 (GRCm39) |
S46P |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,511,607 (GRCm39) |
D200G |
probably benign |
Het |
| Ern2 |
C |
T |
7: 121,769,363 (GRCm39) |
A888T |
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,596,253 (GRCm39) |
S112N |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,917,366 (GRCm39) |
V3462A |
probably damaging |
Het |
| Fstl5 |
T |
C |
3: 76,615,138 (GRCm39) |
I733T |
probably damaging |
Het |
| Gdf3 |
C |
T |
6: 122,586,756 (GRCm39) |
R57Q |
|
Het |
| Grwd1 |
A |
T |
7: 45,480,056 (GRCm39) |
D50E |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,798,988 (GRCm39) |
D339Y |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,196,982 (GRCm39) |
D19G |
probably damaging |
Het |
| Lefty1 |
A |
G |
1: 180,765,290 (GRCm39) |
E286G |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,893,819 (GRCm39) |
F507L |
probably damaging |
Het |
| Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
| Metap1 |
T |
C |
3: 138,174,643 (GRCm39) |
K247E |
probably benign |
Het |
| Muc4 |
T |
G |
16: 32,575,285 (GRCm39) |
I1290S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,754,017 (GRCm38) |
T1298S |
possibly damaging |
Het |
| Nars1 |
G |
T |
18: 64,644,895 (GRCm39) |
H82Q |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,415,983 (GRCm39) |
E1121V |
probably damaging |
Het |
| Nebl |
C |
A |
2: 17,397,991 (GRCm39) |
E481* |
probably null |
Het |
| Pdap1 |
T |
C |
5: 145,069,672 (GRCm39) |
E111G |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,643,379 (GRCm39) |
F67S |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,445,654 (GRCm39) |
F510S |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,396 (GRCm39) |
Y524N |
probably damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,595,278 (GRCm39) |
M887K |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,803,507 (GRCm39) |
D414G |
possibly damaging |
Het |
| Slain1 |
A |
T |
14: 103,923,164 (GRCm39) |
T252S |
probably damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,028,137 (GRCm39) |
F164S |
probably damaging |
Het |
| Slc39a7 |
T |
C |
17: 34,249,964 (GRCm39) |
H90R |
unknown |
Het |
| Slc44a4 |
A |
T |
17: 35,136,508 (GRCm39) |
D58V |
probably damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,006,617 (GRCm39) |
T340A |
probably benign |
Het |
| Sod2 |
C |
A |
17: 13,233,974 (GRCm39) |
N195K |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,035,979 (GRCm39) |
S572P |
possibly damaging |
Het |
| Sytl2 |
C |
T |
7: 90,024,810 (GRCm39) |
A266V |
probably benign |
Het |
| Tbx15 |
T |
A |
3: 99,222,219 (GRCm39) |
D227E |
probably damaging |
Het |
| Tfap2a |
A |
G |
13: 40,882,308 (GRCm39) |
V26A |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,208,003 (GRCm39) |
F1749L |
possibly damaging |
Het |
| Trpc6 |
A |
G |
9: 8,643,411 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,706,924 (GRCm39) |
I9089N |
unknown |
Het |
| Tut7 |
A |
G |
13: 59,947,942 (GRCm39) |
V793A |
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,103,835 (GRCm39) |
T866A |
probably benign |
Het |
| Vmn1r212 |
T |
A |
13: 23,067,494 (GRCm39) |
S280C |
possibly damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,541 (GRCm39) |
T847A |
probably benign |
Het |
| Zer1 |
A |
G |
2: 30,000,881 (GRCm39) |
L180P |
probably damaging |
Het |
| Zfp445 |
T |
G |
9: 122,682,732 (GRCm39) |
Y403S |
probably benign |
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 |
|
|
IGL02346:Sema5b
|
APN |
16 |
35,470,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGGTGTGCAAGAATGATG -3'
(R):5'- GTCCTTTATGAGCCACCAGG -3'
Sequencing Primer
(F):5'- CAAGAATGATGTAGGTGGCCGTTTC -3'
(R):5'- ACCAGGCAGCTCCCCTC -3'
|
| Posted On |
2022-03-23 |
Incidental Mutation