Incidental Mutation 'R7244:Sema5b'
| ID |
563432 |
| 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 |
045308-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
35361517-35485103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35480915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 829
(T829S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050625]
[ENSMUST00000120756]
|
| AlphaFold |
Q60519 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050625
AA Change: T800S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000057494
Gene: ENSMUSG00000052133
AA Change: T800S
| 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
AA Change: T829S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112536
Gene: ENSMUSG00000052133
AA Change: T829S
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (45/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,170,350 (GRCm39) |
F983L |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,486,799 (GRCm39) |
M632K |
probably benign |
Het |
| Cdyl2 |
G |
A |
8: 117,301,999 (GRCm39) |
R461* |
probably null |
Het |
| Cfap57 |
G |
A |
4: 118,411,997 (GRCm39) |
Q1216* |
probably null |
Het |
| Chd1l |
A |
T |
3: 97,505,066 (GRCm39) |
V167E |
probably damaging |
Het |
| Col6a1 |
C |
A |
10: 76,553,242 (GRCm39) |
G391* |
probably null |
Het |
| Ctsc |
C |
A |
7: 87,951,430 (GRCm39) |
Q226K |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,035,953 (GRCm39) |
V319A |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,316,303 (GRCm39) |
S3139P |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,256,079 (GRCm39) |
S643P |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,844,273 (GRCm39) |
V657D |
unknown |
Het |
| Fkbp11 |
A |
G |
15: 98,626,073 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,823,607 (GRCm39) |
A6447T |
possibly damaging |
Het |
| H2-T9 |
C |
A |
17: 36,438,496 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,276,307 (GRCm39) |
D3017G |
probably damaging |
Het |
| Ifi205 |
G |
A |
1: 173,845,210 (GRCm39) |
Q191* |
probably null |
Het |
| Mbd4 |
C |
T |
6: 115,821,564 (GRCm39) |
D484N |
probably benign |
Het |
| Med24 |
C |
T |
11: 98,605,223 (GRCm39) |
|
probably null |
Het |
| Mis18bp1 |
T |
C |
12: 65,208,404 (GRCm39) |
N103S |
probably damaging |
Het |
| Mmd2 |
T |
C |
5: 142,550,587 (GRCm39) |
H217R |
probably damaging |
Het |
| Mn1 |
C |
T |
5: 111,566,699 (GRCm39) |
T223M |
possibly damaging |
Het |
| Ms4a4a |
A |
G |
19: 11,358,794 (GRCm39) |
Y84C |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,749,818 (GRCm39) |
|
probably null |
Het |
| Mybl2 |
C |
T |
2: 162,924,605 (GRCm39) |
P658S |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,446,345 (GRCm39) |
V1828L |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 49,017,149 (GRCm39) |
Y1887H |
probably damaging |
Het |
| Nadk2 |
A |
G |
15: 9,083,271 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
A |
G |
8: 26,156,055 (GRCm39) |
N541D |
probably damaging |
Het |
| Or52e8b |
A |
G |
7: 104,674,148 (GRCm39) |
V13A |
probably benign |
Het |
| Or52i2 |
G |
T |
7: 102,319,046 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdha11 |
A |
T |
18: 37,144,421 (GRCm39) |
R171* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,821,771 (GRCm39) |
V1641E |
|
Het |
| Pramel28 |
A |
T |
4: 143,692,455 (GRCm39) |
M182K |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,178,242 (GRCm39) |
I497L |
probably benign |
Het |
| Rasgef1b |
T |
C |
5: 99,706,753 (GRCm39) |
K41E |
possibly damaging |
Het |
| Rasgrf1 |
T |
C |
9: 89,876,810 (GRCm39) |
F725S |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,612,032 (GRCm39) |
S3962C |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,025,284 (GRCm39) |
D351G |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,347,603 (GRCm39) |
D1130E |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,612,563 (GRCm39) |
C1993R |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,478,222 (GRCm39) |
I844V |
probably benign |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,760,945 (GRCm39) |
V804A |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,797,086 (GRCm39) |
V491A |
probably benign |
Het |
| Xpo5 |
G |
T |
17: 46,525,551 (GRCm39) |
G233C |
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 |
|
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 |
|
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'- AGGAGTTCAAGACCTGCAACC -3'
(R):5'- TTCCACAACCTTACCTGGGC -3'
Sequencing Primer
(F):5'- TCTGCAGTTCGGCAAGAG -3'
(R):5'- AACCTTACCTGGGCAAGCCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation