Incidental Mutation 'R5856:Sema5b'
ID |
454930 |
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 |
043230-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5856 (G1)
|
Quality Score |
163 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
35361517-35485103 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to G
at 35466756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 219
(Y219*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050625]
[ENSMUST00000120756]
|
AlphaFold |
Q60519 |
Predicted Effect |
probably null
Transcript: ENSMUST00000050625
AA Change: Y219*
|
SMART Domains |
Protein: ENSMUSP00000057494 Gene: ENSMUSG00000052133 AA Change: Y219*
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
AA Change: Y219*
|
SMART Domains |
Protein: ENSMUSP00000112536 Gene: ENSMUSG00000052133 AA Change: Y219*
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: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.2%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
Adgrf5 |
A |
G |
17: 43,757,011 (GRCm39) |
T497A |
probably benign |
Het |
Ano5 |
T |
C |
7: 51,235,074 (GRCm39) |
I669T |
probably benign |
Het |
Arhgap11a |
A |
T |
2: 113,664,116 (GRCm39) |
N722K |
possibly damaging |
Het |
Atm |
A |
T |
9: 53,407,255 (GRCm39) |
I1161K |
possibly damaging |
Het |
Atp13a4 |
T |
C |
16: 29,252,805 (GRCm39) |
T714A |
possibly damaging |
Het |
BC051665 |
T |
A |
13: 60,932,314 (GRCm39) |
M92L |
probably benign |
Het |
Car3 |
G |
A |
3: 14,936,701 (GRCm39) |
V255M |
probably damaging |
Het |
Cnot11 |
C |
A |
1: 39,576,534 (GRCm39) |
F179L |
probably benign |
Het |
Dctn1 |
A |
G |
6: 83,174,847 (GRCm39) |
Y1013C |
probably damaging |
Het |
Gm19965 |
A |
G |
1: 116,749,579 (GRCm39) |
D420G |
probably benign |
Het |
Gm5444 |
A |
G |
13: 4,821,683 (GRCm39) |
|
noncoding transcript |
Het |
Hydin |
A |
T |
8: 111,268,474 (GRCm39) |
D2946V |
probably damaging |
Het |
Hyou1 |
C |
T |
9: 44,292,641 (GRCm39) |
R119C |
probably damaging |
Het |
Ighm |
A |
T |
12: 113,385,222 (GRCm39) |
L246Q |
unknown |
Het |
Itpr3 |
A |
G |
17: 27,325,379 (GRCm39) |
E1324G |
probably damaging |
Het |
Loxl4 |
G |
T |
19: 42,583,805 (GRCm39) |
Q749K |
possibly damaging |
Het |
Muc2 |
C |
A |
7: 141,299,381 (GRCm39) |
|
probably benign |
Het |
Myh11 |
T |
C |
16: 14,023,840 (GRCm39) |
T1505A |
probably benign |
Het |
Nsmce2 |
A |
G |
15: 59,250,792 (GRCm39) |
E21G |
probably damaging |
Het |
Or13c3 |
T |
A |
4: 52,856,516 (GRCm39) |
|
probably benign |
Het |
Or4c115 |
T |
A |
2: 88,928,254 (GRCm39) |
I6F |
probably benign |
Het |
Plaa |
A |
G |
4: 94,471,724 (GRCm39) |
I375T |
probably benign |
Het |
Pou2f1 |
C |
T |
1: 165,742,699 (GRCm39) |
A65T |
probably benign |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Rxfp1 |
T |
A |
3: 79,570,620 (GRCm39) |
N271Y |
possibly damaging |
Het |
Slc35f3 |
G |
T |
8: 127,047,819 (GRCm39) |
R53L |
probably benign |
Het |
Slc44a5 |
T |
C |
3: 153,964,029 (GRCm39) |
V465A |
possibly damaging |
Het |
Slc9a5 |
A |
G |
8: 106,083,797 (GRCm39) |
I446V |
possibly damaging |
Het |
Slf1 |
A |
T |
13: 77,254,206 (GRCm39) |
D204E |
possibly damaging |
Het |
Sox5 |
T |
A |
6: 144,155,088 (GRCm39) |
T3S |
probably damaging |
Het |
Srr |
G |
A |
11: 74,803,838 (GRCm39) |
R40C |
possibly damaging |
Het |
Tas2r115 |
T |
A |
6: 132,714,501 (GRCm39) |
H150L |
possibly damaging |
Het |
Tet2 |
A |
G |
3: 133,192,401 (GRCm39) |
S678P |
probably benign |
Het |
Tmem11 |
T |
C |
11: 60,755,684 (GRCm39) |
K183E |
probably damaging |
Het |
Upf1 |
T |
C |
8: 70,787,412 (GRCm39) |
|
probably null |
Het |
Xpo6 |
A |
T |
7: 125,748,674 (GRCm39) |
|
probably benign |
Het |
Zfp638 |
C |
T |
6: 83,954,047 (GRCm39) |
S1384L |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
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'- AGGGGAAAGCTCTCTTCTCC -3'
(R):5'- CTAAGGACATCTGGGCCTCAAC -3'
Sequencing Primer
(F):5'- CTCAGCCGGACTATTGAGAAGATC -3'
(R):5'- ATCTGGGCCTCAACTCCAGTG -3'
|
Posted On |
2017-02-10 |