Incidental Mutation 'R0101:Sema5b'
| ID |
33223 |
| 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 |
038387-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0101 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
35361517-35485103 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 35483472 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128347
|
| SMART Domains |
Protein: ENSMUSP00000121703
Gene: ENSMUSG00000052133
| Domain | Start | End | E-Value | Type |
|---|
|
TSP1
|
1 |
32 |
8.81e-1 |
SMART |
|
TSP1
|
35 |
82 |
1.02e-1 |
SMART |
|
transmembrane domain
|
102 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128966
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149855
|
| SMART Domains |
Protein: ENSMUSP00000115969
Gene: ENSMUSG00000052133
| Domain | Start | End | E-Value | Type |
|---|
|
TSP1
|
17 |
70 |
3.34e-15 |
SMART |
|
TSP1
|
75 |
121 |
3.42e-12 |
SMART |
|
TSP1
|
206 |
258 |
1.58e-16 |
SMART |
|
TSP1
|
263 |
315 |
2.45e-13 |
SMART |
|
TSP1
|
317 |
364 |
1.02e-1 |
SMART |
|
transmembrane domain
|
384 |
406 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
100% (50/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,901,739 (GRCm39) |
D829N |
probably benign |
Het |
| B3galnt1 |
A |
G |
3: 69,483,139 (GRCm39) |
Y41H |
probably benign |
Het |
| Carmil3 |
A |
C |
14: 55,735,212 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,771,341 (GRCm39) |
Q41R |
probably benign |
Het |
| Cep43 |
A |
T |
17: 8,388,374 (GRCm39) |
S76C |
possibly damaging |
Het |
| Chrm2 |
G |
T |
6: 36,501,430 (GRCm39) |
C429F |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,250,444 (GRCm39) |
C1844S |
probably benign |
Het |
| Cyld |
T |
A |
8: 89,444,928 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
C |
A |
15: 82,274,395 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,005,856 (GRCm39) |
Y2308H |
probably damaging |
Het |
| Dnajc27 |
T |
C |
12: 4,139,142 (GRCm39) |
V60A |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,862,599 (GRCm39) |
V850A |
possibly damaging |
Het |
| Emcn |
A |
T |
3: 137,047,001 (GRCm39) |
M1L |
possibly damaging |
Het |
| Epc1 |
A |
T |
18: 6,462,998 (GRCm39) |
|
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,133,521 (GRCm39) |
L310P |
probably damaging |
Het |
| Filip1 |
A |
G |
9: 79,726,810 (GRCm39) |
I603T |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,512,957 (GRCm39) |
V723A |
probably damaging |
Het |
| Gemin5 |
G |
A |
11: 58,036,322 (GRCm39) |
P674S |
probably damaging |
Het |
| Gsk3a |
T |
C |
7: 24,928,328 (GRCm39) |
D471G |
probably benign |
Het |
| Igbp1b |
G |
A |
6: 138,634,658 (GRCm39) |
P262L |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,651,768 (GRCm39) |
L300S |
probably damaging |
Het |
| Itsn2 |
T |
C |
12: 4,683,058 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,072,598 (GRCm39) |
S150P |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,951,120 (GRCm39) |
M1V |
probably null |
Het |
| Mical2 |
C |
T |
7: 111,936,074 (GRCm39) |
R892C |
possibly damaging |
Het |
| Mtus2 |
T |
C |
5: 148,019,845 (GRCm39) |
S747P |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,861,206 (GRCm39) |
K1276E |
possibly damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,138 (GRCm39) |
S241P |
probably damaging |
Het |
| Pfkfb4 |
C |
G |
9: 108,839,711 (GRCm39) |
P260R |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,948,626 (GRCm39) |
L121Q |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,204,681 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,864,615 (GRCm39) |
M215T |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,070,769 (GRCm39) |
D213G |
possibly damaging |
Het |
| Rreb1 |
C |
A |
13: 38,115,518 (GRCm39) |
P959Q |
probably benign |
Het |
| Slc38a10 |
A |
G |
11: 120,041,903 (GRCm39) |
M1T |
probably null |
Het |
| Slco1c1 |
G |
T |
6: 141,477,236 (GRCm39) |
L11F |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,194 (GRCm39) |
T393A |
probably damaging |
Het |
| Srp54b |
A |
G |
12: 55,302,405 (GRCm39) |
|
probably benign |
Het |
| St14 |
G |
T |
9: 31,008,403 (GRCm39) |
N512K |
probably benign |
Het |
| Syce1l |
T |
A |
8: 114,382,061 (GRCm39) |
S237T |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tamm41 |
A |
T |
6: 115,009,207 (GRCm39) |
Y129N |
probably damaging |
Het |
| Tctn2 |
T |
C |
5: 124,753,357 (GRCm39) |
|
noncoding transcript |
Het |
| Tpr |
T |
C |
1: 150,285,053 (GRCm39) |
|
probably benign |
Het |
| Vsig10 |
T |
A |
5: 117,473,134 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
T |
C |
2: 164,741,910 (GRCm39) |
K635R |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,811,968 (GRCm39) |
Y207C |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCCTATGGAATTCAAGGTGGGTG -3'
(R):5'- GAGCTTTCTGAAGCCAGATGGGAC -3'
Sequencing Primer
(F):5'- TGCCTCTGTGTGAAGCAAAG -3'
(R):5'- ACCAAAGTGGTTCTACGGTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation