Incidental Mutation 'IGL02850:Sema5b'
ID |
361836 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02850
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
35361517-35485103 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35480885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 819
(S819P)
|
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: S790P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000057494 Gene: ENSMUSG00000052133 AA Change: S790P
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: S819P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000112536 Gene: ENSMUSG00000052133 AA Change: S819P
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 |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
A |
G |
3: 59,843,993 (GRCm39) |
Y229C |
probably damaging |
Het |
Adgrd1 |
A |
G |
5: 129,192,119 (GRCm39) |
D63G |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,979,960 (GRCm39) |
T415A |
probably benign |
Het |
Antxr2 |
A |
G |
5: 98,151,937 (GRCm39) |
V178A |
probably damaging |
Het |
Ap1s1 |
A |
G |
5: 137,070,634 (GRCm39) |
Y127H |
possibly damaging |
Het |
Bbs2 |
A |
T |
8: 94,803,710 (GRCm39) |
M510K |
probably benign |
Het |
Cbfa2t2 |
A |
G |
2: 154,377,090 (GRCm39) |
N591S |
probably damaging |
Het |
Chd6 |
T |
A |
2: 160,861,536 (GRCm39) |
R504* |
probably null |
Het |
Cnpy3 |
A |
G |
17: 47,054,217 (GRCm39) |
|
probably benign |
Het |
Cntn2 |
T |
G |
1: 132,446,114 (GRCm39) |
K824T |
probably benign |
Het |
Cntnap3 |
T |
C |
13: 64,905,223 (GRCm39) |
T853A |
probably damaging |
Het |
Cog4 |
G |
A |
8: 111,593,221 (GRCm39) |
G444D |
possibly damaging |
Het |
Col18a1 |
A |
T |
10: 76,932,300 (GRCm39) |
I510N |
probably damaging |
Het |
Cxcr5 |
G |
A |
9: 44,425,403 (GRCm39) |
R85W |
probably damaging |
Het |
Cyth3 |
C |
A |
5: 143,672,259 (GRCm39) |
T58K |
probably damaging |
Het |
Dio3 |
T |
C |
12: 110,245,970 (GRCm39) |
V102A |
probably damaging |
Het |
Dmbx1 |
G |
A |
4: 115,775,204 (GRCm39) |
R359C |
probably damaging |
Het |
Fam3d |
C |
T |
14: 8,361,475 (GRCm38) |
|
probably null |
Het |
Fras1 |
C |
A |
5: 96,926,034 (GRCm39) |
P3746Q |
probably damaging |
Het |
Glt1d1 |
T |
A |
5: 127,721,409 (GRCm39) |
M32K |
probably benign |
Het |
Hunk |
A |
G |
16: 90,229,460 (GRCm39) |
N31S |
probably damaging |
Het |
Ints11 |
T |
C |
4: 155,959,761 (GRCm39) |
S123P |
probably benign |
Het |
Izumo2 |
T |
C |
7: 44,358,339 (GRCm39) |
L58S |
probably damaging |
Het |
Izumo4 |
A |
G |
10: 80,540,032 (GRCm39) |
|
probably benign |
Het |
Kcnh7 |
T |
A |
2: 62,618,029 (GRCm39) |
K487* |
probably null |
Het |
Lrp12 |
T |
C |
15: 39,741,971 (GRCm39) |
Y248C |
probably damaging |
Het |
Maco1 |
T |
C |
4: 134,555,697 (GRCm39) |
K259E |
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,490,801 (GRCm39) |
D210G |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,890,740 (GRCm39) |
D1038G |
probably damaging |
Het |
Noa1 |
T |
C |
5: 77,442,338 (GRCm39) |
T651A |
probably benign |
Het |
Nop2 |
A |
C |
6: 125,121,048 (GRCm39) |
K610T |
possibly damaging |
Het |
Nop2 |
G |
T |
6: 125,121,033 (GRCm39) |
G605V |
probably benign |
Het |
Npvf |
G |
A |
6: 50,629,670 (GRCm39) |
R107W |
probably benign |
Het |
Or10ad1b |
A |
G |
15: 98,125,232 (GRCm39) |
V98A |
probably benign |
Het |
Or2h2c |
T |
C |
17: 37,422,865 (GRCm39) |
N3S |
probably benign |
Het |
Oxr1 |
A |
G |
15: 41,718,329 (GRCm39) |
T775A |
probably damaging |
Het |
P2ry13 |
C |
T |
3: 59,117,029 (GRCm39) |
A250T |
probably damaging |
Het |
Pcsk9 |
A |
T |
4: 106,316,062 (GRCm39) |
V127E |
probably damaging |
Het |
Piezo2 |
G |
A |
18: 63,153,704 (GRCm39) |
S2547F |
probably benign |
Het |
Pinx1 |
A |
G |
14: 64,156,609 (GRCm39) |
T179A |
probably damaging |
Het |
Pjvk |
T |
C |
2: 76,488,795 (GRCm39) |
V322A |
possibly damaging |
Het |
Pla2r1 |
T |
A |
2: 60,332,413 (GRCm39) |
R476S |
probably benign |
Het |
Polb |
A |
G |
8: 23,138,277 (GRCm39) |
|
probably benign |
Het |
Polg2 |
C |
T |
11: 106,659,293 (GRCm39) |
D407N |
probably damaging |
Het |
Pou5f2 |
G |
A |
13: 78,173,178 (GRCm39) |
R40Q |
probably benign |
Het |
Sctr |
T |
C |
1: 119,972,393 (GRCm39) |
M193T |
possibly damaging |
Het |
Sctr |
T |
A |
1: 119,949,909 (GRCm39) |
C33S |
probably damaging |
Het |
Setd1b |
C |
T |
5: 123,286,652 (GRCm39) |
T566I |
unknown |
Het |
Sptbn4 |
G |
A |
7: 27,126,258 (GRCm39) |
R222C |
possibly damaging |
Het |
Taf5l |
A |
G |
8: 124,730,197 (GRCm39) |
V129A |
possibly damaging |
Het |
Tmem163 |
C |
T |
1: 127,427,984 (GRCm39) |
V201I |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,544,310 (GRCm39) |
L569P |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,372,515 (GRCm39) |
E301G |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,914,823 (GRCm39) |
I1660V |
probably benign |
Het |
Zbtb22 |
T |
A |
17: 34,135,987 (GRCm39) |
L44Q |
probably damaging |
Het |
Zfp691 |
T |
C |
4: 119,027,389 (GRCm39) |
D281G |
probably damaging |
Het |
Zfy2 |
C |
T |
Y: 2,106,894 (GRCm39) |
G580D |
probably benign |
Het |
Zfy2 |
T |
A |
Y: 2,117,188 (GRCm39) |
H213L |
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 |
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 |
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 |
|
Posted On |
2015-12-18 |