Incidental Mutation 'R6825:Sema5b'
ID |
534128 |
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 |
044937-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6825 (G1)
|
Quality Score |
201.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
35361517-35485103 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 35448377 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 null
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 null
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: ENSMUST00000133554
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
100% (62/62) |
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 |
4930447C04Rik |
A |
T |
12: 72,954,654 (GRCm39) |
S206T |
probably benign |
Het |
Aasdh |
A |
T |
5: 77,036,696 (GRCm39) |
|
probably null |
Het |
Adam10 |
G |
T |
9: 70,668,884 (GRCm39) |
C400F |
probably damaging |
Het |
Ankle2 |
A |
T |
5: 110,398,635 (GRCm39) |
R561S |
probably null |
Het |
Arhgef5 |
C |
T |
6: 43,251,895 (GRCm39) |
T882I |
probably damaging |
Het |
Arpc1a |
A |
T |
5: 145,032,936 (GRCm39) |
K82* |
probably null |
Het |
Card11 |
C |
A |
5: 140,863,837 (GRCm39) |
R967L |
probably benign |
Het |
Ccdc82 |
G |
T |
9: 13,251,601 (GRCm39) |
|
probably benign |
Het |
Cebpz |
T |
C |
17: 79,227,392 (GRCm39) |
D1026G |
probably damaging |
Het |
Cit |
A |
T |
5: 116,119,833 (GRCm39) |
Q1321L |
probably damaging |
Het |
Clcn2 |
C |
A |
16: 20,528,408 (GRCm39) |
|
probably benign |
Het |
Csf3 |
G |
C |
11: 98,593,273 (GRCm39) |
G130A |
probably damaging |
Het |
Cul2 |
T |
A |
18: 3,434,946 (GRCm39) |
S737T |
probably damaging |
Het |
Cyp1a2 |
G |
A |
9: 57,584,543 (GRCm39) |
H504Y |
probably benign |
Het |
Cyp3a44 |
G |
A |
5: 145,716,396 (GRCm39) |
P398L |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,960,147 (GRCm39) |
I2206T |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
Epb41l5 |
A |
T |
1: 119,547,931 (GRCm39) |
D157E |
possibly damaging |
Het |
Ercc8 |
T |
C |
13: 108,295,343 (GRCm39) |
S6P |
probably damaging |
Het |
Faxc |
T |
C |
4: 21,931,672 (GRCm39) |
S37P |
probably benign |
Het |
Fbxl19 |
T |
A |
7: 127,349,187 (GRCm39) |
I119K |
probably damaging |
Het |
Frmd4b |
A |
G |
6: 97,302,437 (GRCm39) |
V195A |
possibly damaging |
Het |
Fut9 |
A |
T |
4: 25,619,925 (GRCm39) |
S296R |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,533,674 (GRCm39) |
N112D |
probably benign |
Het |
H2-Q1 |
T |
C |
17: 35,540,028 (GRCm39) |
L99P |
probably damaging |
Het |
Helq |
A |
T |
5: 100,940,561 (GRCm39) |
I346N |
probably damaging |
Het |
Hepacam |
A |
G |
9: 37,278,976 (GRCm39) |
K2E |
possibly damaging |
Het |
Itgae |
T |
C |
11: 73,009,322 (GRCm39) |
M502T |
possibly damaging |
Het |
Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
T |
4: 123,277,015 (GRCm39) |
|
probably null |
Het |
Mgat4a |
T |
A |
1: 37,503,515 (GRCm39) |
K220* |
probably null |
Het |
Or2t43 |
T |
C |
11: 58,457,476 (GRCm39) |
R232G |
possibly damaging |
Het |
Or4c104 |
T |
C |
2: 88,586,255 (GRCm39) |
I255V |
possibly damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,514 (GRCm39) |
V194I |
probably benign |
Het |
Pex5 |
A |
T |
6: 124,391,340 (GRCm39) |
M18K |
probably damaging |
Het |
Phlda3 |
T |
C |
1: 135,694,562 (GRCm39) |
*126Q |
probably null |
Het |
Plxna1 |
G |
T |
6: 89,297,597 (GRCm39) |
D1862E |
probably benign |
Het |
Pold4 |
A |
T |
19: 4,282,164 (GRCm39) |
I7F |
possibly damaging |
Het |
Prkaa1 |
A |
T |
15: 5,173,432 (GRCm39) |
I19F |
possibly damaging |
Het |
Prl7d1 |
T |
G |
13: 27,894,125 (GRCm39) |
E148A |
probably benign |
Het |
Prr14l |
A |
T |
5: 32,985,892 (GRCm39) |
V1201E |
possibly damaging |
Het |
Rab3gap1 |
T |
C |
1: 127,858,158 (GRCm39) |
C510R |
probably damaging |
Het |
Rhbdf1 |
C |
T |
11: 32,159,970 (GRCm39) |
R802H |
probably damaging |
Het |
Rpl18a |
A |
C |
8: 71,348,836 (GRCm39) |
F47V |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,442,459 (GRCm39) |
G1985R |
probably benign |
Het |
Tcaf2 |
C |
T |
6: 42,606,452 (GRCm39) |
A501T |
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,681,542 (GRCm39) |
D563G |
probably damaging |
Het |
Tdh |
G |
A |
14: 63,733,281 (GRCm39) |
T155M |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,937,711 (GRCm39) |
N1654S |
probably benign |
Het |
Tlr5 |
A |
T |
1: 182,800,609 (GRCm39) |
|
probably benign |
Het |
Tns1 |
G |
T |
1: 74,041,482 (GRCm39) |
C136* |
probably null |
Het |
Tomm5 |
A |
T |
4: 45,106,443 (GRCm39) |
|
probably null |
Het |
Trio |
A |
T |
15: 27,889,394 (GRCm39) |
F512I |
probably damaging |
Het |
Ttll5 |
A |
T |
12: 85,930,102 (GRCm39) |
|
probably null |
Het |
Upp1 |
T |
A |
11: 9,081,707 (GRCm39) |
H81Q |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,713,562 (GRCm39) |
S71P |
probably damaging |
Het |
Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
Zap70 |
A |
G |
1: 36,817,471 (GRCm39) |
Y238C |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,843,265 (GRCm39) |
D307G |
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 |
|
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'- ACTCTAATCCCTGAGGTCAGAAG -3'
(R):5'- TACAGACAGGGCCTGGTATG -3'
Sequencing Primer
(F):5'- TCAGAAGGCTGGCTGCTCAC -3'
(R):5'- CTCGAGATCAGTGTGGATACTCATC -3'
|
Posted On |
2018-09-12 |