Incidental Mutation 'R5743:Sema5b'
| ID |
445695 |
| 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 |
043353-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
35361517-35485103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35478846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 557
(W557R)
|
| 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: W557R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057494
Gene: ENSMUSG00000052133
AA Change: W557R
| 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: W557R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112536
Gene: ENSMUSG00000052133
AA Change: W557R
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,416,536 (GRCm39) |
|
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,391,629 (GRCm39) |
|
probably null |
Het |
| Arhgap20 |
T |
A |
9: 51,728,027 (GRCm39) |
M80K |
probably benign |
Het |
| Arhgap29 |
T |
G |
3: 121,775,560 (GRCm39) |
L37R |
probably damaging |
Het |
| Baiap3 |
G |
A |
17: 25,463,759 (GRCm39) |
P906S |
probably benign |
Het |
| Caskin2 |
T |
A |
11: 115,693,115 (GRCm39) |
N603I |
possibly damaging |
Het |
| Catspere2 |
G |
T |
1: 177,950,328 (GRCm39) |
|
silent |
Het |
| Ccdc159 |
A |
T |
9: 21,840,686 (GRCm39) |
E84D |
probably benign |
Het |
| Ccl1 |
T |
G |
11: 82,067,712 (GRCm39) |
S73R |
possibly damaging |
Het |
| Cdh20 |
G |
T |
1: 110,036,575 (GRCm39) |
C585F |
probably damaging |
Het |
| Cga |
T |
C |
4: 34,904,108 (GRCm39) |
|
probably null |
Het |
| Coq5 |
A |
C |
5: 115,417,941 (GRCm39) |
E57A |
probably benign |
Het |
| Cstf1 |
T |
A |
2: 172,219,753 (GRCm39) |
L288Q |
probably damaging |
Het |
| Ctsll3 |
G |
T |
13: 60,948,815 (GRCm39) |
Q47K |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,420,803 (GRCm39) |
Q539L |
probably benign |
Het |
| Fbxo46 |
C |
A |
7: 18,870,420 (GRCm39) |
D346E |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,407 (GRCm39) |
T1567S |
probably damaging |
Het |
| Glce |
T |
A |
9: 61,977,822 (GRCm39) |
T21S |
probably damaging |
Het |
| Gm19402 |
C |
T |
10: 77,526,516 (GRCm39) |
D26N |
probably damaging |
Het |
| Gm20830 |
A |
G |
Y: 6,916,664 (GRCm39) |
Y152H |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,895,784 (GRCm39) |
Y1011H |
probably benign |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Il31ra |
G |
T |
13: 112,664,021 (GRCm39) |
T552K |
possibly damaging |
Het |
| Itga2 |
A |
G |
13: 115,021,042 (GRCm39) |
V86A |
probably damaging |
Het |
| Kcnk4 |
A |
T |
19: 6,905,723 (GRCm39) |
N81K |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,297,221 (GRCm39) |
D3247Y |
probably damaging |
Het |
| Maml3 |
G |
T |
3: 52,011,553 (GRCm39) |
F4L |
unknown |
Het |
| Mcpt1 |
A |
T |
14: 56,256,072 (GRCm39) |
H37L |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,339,425 (GRCm39) |
M1V |
probably null |
Het |
| Myom2 |
A |
T |
8: 15,130,914 (GRCm39) |
K283N |
possibly damaging |
Het |
| Nrxn1 |
C |
A |
17: 90,950,652 (GRCm39) |
R509L |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,736 (GRCm39) |
Y30F |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,363 (GRCm39) |
|
probably null |
Het |
| Or8c13 |
C |
A |
9: 38,092,014 (GRCm39) |
C35F |
probably benign |
Het |
| Or8h8 |
C |
A |
2: 86,753,549 (GRCm39) |
G109V |
probably benign |
Het |
| Orc6 |
A |
T |
8: 86,029,585 (GRCm39) |
Q43L |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,692,862 (GRCm39) |
S874L |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,160 (GRCm39) |
D670G |
probably damaging |
Het |
| Pcdhga9 |
A |
T |
18: 37,871,859 (GRCm39) |
I563F |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,333,511 (GRCm39) |
S373T |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,841,836 (GRCm39) |
D190G |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,411,314 (GRCm39) |
Y280N |
probably damaging |
Het |
| Rasl10a |
T |
A |
11: 5,009,519 (GRCm39) |
D102E |
probably benign |
Het |
| Rgs1 |
T |
C |
1: 144,121,110 (GRCm39) |
Y187C |
probably damaging |
Het |
| Sh2b3 |
A |
T |
5: 121,966,520 (GRCm39) |
L198H |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,379 (GRCm39) |
T429K |
probably benign |
Het |
| Slc35f1 |
T |
G |
10: 52,965,546 (GRCm39) |
D320E |
probably benign |
Het |
| Smug1 |
C |
A |
15: 103,066,043 (GRCm39) |
|
probably null |
Het |
| Spata31f3 |
G |
A |
4: 42,873,087 (GRCm39) |
T68I |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,512 (GRCm39) |
Y311* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,096,223 (GRCm39) |
T1466A |
possibly damaging |
Het |
| Tmem130 |
A |
G |
5: 144,687,749 (GRCm39) |
S196P |
probably damaging |
Het |
| Trim30d |
A |
T |
7: 104,121,535 (GRCm39) |
C176* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,169,159 (GRCm39) |
H1100R |
probably benign |
Het |
| Vezt |
A |
T |
10: 93,832,957 (GRCm39) |
F151L |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,396,234 (GRCm39) |
T538A |
possibly damaging |
Het |
| Zc3h3 |
G |
T |
15: 75,651,380 (GRCm39) |
C638* |
probably null |
Het |
| Zfp128 |
C |
T |
7: 12,618,654 (GRCm39) |
R51C |
probably damaging |
Het |
| Zfp141 |
T |
G |
7: 42,125,855 (GRCm39) |
I206L |
possibly damaging |
Het |
| Zfp369 |
G |
T |
13: 65,443,494 (GRCm39) |
K324N |
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 |
|
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'- AACCTGTCCTGTGAGAATCCTTG -3'
(R):5'- ACACTTGGATGAGATGCCCC -3'
Sequencing Primer
(F):5'- TGAGAATCCTTGTGCGCC -3'
(R):5'- GTTCTCACTGTACAAGTCCTAAGCAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation