Incidental Mutation 'IGL03004:Sema3b'
ID |
407471 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sema3b
|
Ensembl Gene |
ENSMUSG00000057969 |
Gene Name |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B |
Synonyms |
semaV, Semaa, SemA, sema5, SemA, LUCA-1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.341)
|
Stock # |
IGL03004
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
107474873-107486428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 107480114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 208
(P208L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073448]
[ENSMUST00000102529]
[ENSMUST00000102530]
[ENSMUST00000102531]
[ENSMUST00000102532]
[ENSMUST00000123926]
[ENSMUST00000194606]
[ENSMUST00000195662]
[ENSMUST00000193180]
[ENSMUST00000194433]
[ENSMUST00000195057]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073448
AA Change: P208L
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000073152 Gene: ENSMUSG00000057969 AA Change: P208L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Sema
|
55 |
497 |
6.37e-207 |
SMART |
PSI
|
515 |
567 |
1.77e-13 |
SMART |
IG
|
577 |
660 |
7.7e-5 |
SMART |
low complexity region
|
665 |
683 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102529
AA Change: P208L
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099588 Gene: ENSMUSG00000057969 AA Change: P208L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Sema
|
55 |
497 |
6.37e-207 |
SMART |
PSI
|
515 |
567 |
1.77e-13 |
SMART |
IG
|
577 |
660 |
7.7e-5 |
SMART |
low complexity region
|
665 |
683 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102530
AA Change: P208L
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099589 Gene: ENSMUSG00000057969 AA Change: P208L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Sema
|
55 |
497 |
6.37e-207 |
SMART |
PSI
|
515 |
567 |
1.77e-13 |
SMART |
IG
|
577 |
660 |
7.7e-5 |
SMART |
low complexity region
|
665 |
683 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102531
AA Change: P208L
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099590 Gene: ENSMUSG00000057969 AA Change: P208L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Sema
|
55 |
497 |
6.37e-207 |
SMART |
PSI
|
515 |
567 |
1.77e-13 |
SMART |
IG
|
577 |
660 |
7.7e-5 |
SMART |
low complexity region
|
665 |
683 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102532
AA Change: P208L
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099591 Gene: ENSMUSG00000057969 AA Change: P208L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Sema
|
55 |
497 |
6.37e-207 |
SMART |
PSI
|
515 |
567 |
1.77e-13 |
SMART |
IG
|
577 |
660 |
7.7e-5 |
SMART |
low complexity region
|
665 |
683 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123926
AA Change: P208L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000137952 Gene: ENSMUSG00000057969 AA Change: P208L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Sema
|
55 |
497 |
6.37e-207 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193551
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193234
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195472
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194606
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195662
|
SMART Domains |
Protein: ENSMUSP00000141614 Gene: ENSMUSG00000057969
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Sema
|
55 |
137 |
8.4e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193180
|
SMART Domains |
Protein: ENSMUSP00000141726 Gene: ENSMUSG00000057969
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Sema
|
55 |
148 |
8.2e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194433
|
SMART Domains |
Protein: ENSMUSP00000141403 Gene: ENSMUSG00000057969
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Sema
|
55 |
172 |
3.5e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195057
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a secreted protein that belongs to the class 3 semaphorin/collapsin family. Members of this family play a role in growth cone guidance during neurogenesis. The encoded protein inhibits axonal extension. This protein is thought to be an osteoblast protein that regulates bone mass and affects skeletal homeostasis. A similar gene in humans functions as a tumor suppressor gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] PHENOTYPE: Mice homozygous for one knock-out allele are viable and fertile with no obvious pathological abnormalities. Mice homozygous for a second knock-out allele exhibit improper positioning of a major brain commissural projection, the anterior commissure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atrx |
A |
T |
X: 104,876,115 (GRCm39) |
C78* |
probably null |
Het |
Birc6 |
T |
A |
17: 74,919,180 (GRCm39) |
N1999K |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,019,826 (GRCm39) |
|
probably benign |
Het |
Cdc42bpg |
G |
A |
19: 6,361,413 (GRCm39) |
R313Q |
probably benign |
Het |
Clip3 |
A |
G |
7: 29,991,789 (GRCm39) |
Y55C |
probably damaging |
Het |
Ddit4l |
A |
G |
3: 137,331,966 (GRCm39) |
N111D |
probably benign |
Het |
Eprs1 |
T |
G |
1: 185,114,030 (GRCm39) |
M326R |
probably damaging |
Het |
F8 |
C |
T |
X: 74,255,658 (GRCm39) |
G2045D |
probably damaging |
Het |
Fstl5 |
A |
G |
3: 76,555,738 (GRCm39) |
|
probably benign |
Het |
Gm10577 |
T |
C |
4: 100,877,526 (GRCm39) |
|
probably benign |
Het |
Heatr6 |
T |
C |
11: 83,648,205 (GRCm39) |
S133P |
probably benign |
Het |
Itpr3 |
T |
G |
17: 27,316,952 (GRCm39) |
F736V |
possibly damaging |
Het |
Klf8 |
T |
C |
X: 152,165,716 (GRCm39) |
L95P |
probably damaging |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Map3k12 |
A |
G |
15: 102,412,631 (GRCm39) |
V247A |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,919,413 (GRCm39) |
Y6211H |
probably damaging |
Het |
Or1j19 |
A |
G |
2: 36,677,194 (GRCm39) |
Y219C |
probably damaging |
Het |
Pip4k2b |
A |
G |
11: 97,615,300 (GRCm39) |
Y187H |
probably damaging |
Het |
Rabggta |
A |
G |
14: 55,956,687 (GRCm39) |
|
probably benign |
Het |
Ranbp3 |
T |
A |
17: 57,014,207 (GRCm39) |
V246E |
probably damaging |
Het |
Rtf1 |
C |
A |
2: 119,531,754 (GRCm39) |
|
probably benign |
Het |
Smpd1 |
A |
G |
7: 105,205,881 (GRCm39) |
D416G |
possibly damaging |
Het |
Spam1 |
T |
C |
6: 24,796,913 (GRCm39) |
V288A |
probably damaging |
Het |
Stac |
A |
C |
9: 111,431,608 (GRCm39) |
S248A |
probably benign |
Het |
Tmem178b |
C |
A |
6: 40,222,515 (GRCm39) |
R77S |
probably damaging |
Het |
Vegfd |
T |
C |
X: 163,185,104 (GRCm39) |
L352P |
probably benign |
Het |
Vmn1r176 |
A |
T |
7: 23,534,702 (GRCm39) |
N150K |
probably damaging |
Het |
Vmn1r230 |
T |
C |
17: 21,067,772 (GRCm39) |
|
probably benign |
Het |
Vsig10 |
A |
G |
5: 117,463,140 (GRCm39) |
Y122C |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,518,766 (GRCm39) |
V121E |
probably damaging |
Het |
Zrsr2 |
T |
C |
X: 162,722,397 (GRCm39) |
Q285R |
probably benign |
Het |
|
Other mutations in Sema3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00674:Sema3b
|
APN |
9 |
107,481,240 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02750:Sema3b
|
APN |
9 |
107,480,363 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02878:Sema3b
|
APN |
9 |
107,478,192 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03026:Sema3b
|
APN |
9 |
107,479,262 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03129:Sema3b
|
APN |
9 |
107,476,995 (GRCm39) |
unclassified |
probably benign |
|
IGL03334:Sema3b
|
APN |
9 |
107,481,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R0373:Sema3b
|
UTSW |
9 |
107,480,117 (GRCm39) |
missense |
probably benign |
0.05 |
R0384:Sema3b
|
UTSW |
9 |
107,478,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Sema3b
|
UTSW |
9 |
107,481,355 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3916:Sema3b
|
UTSW |
9 |
107,477,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R3971:Sema3b
|
UTSW |
9 |
107,477,567 (GRCm39) |
missense |
probably benign |
|
R4212:Sema3b
|
UTSW |
9 |
107,480,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R4647:Sema3b
|
UTSW |
9 |
107,476,250 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4694:Sema3b
|
UTSW |
9 |
107,482,201 (GRCm39) |
missense |
probably benign |
0.03 |
R4791:Sema3b
|
UTSW |
9 |
107,481,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R4853:Sema3b
|
UTSW |
9 |
107,479,266 (GRCm39) |
splice site |
probably null |
|
R5305:Sema3b
|
UTSW |
9 |
107,480,536 (GRCm39) |
missense |
probably null |
1.00 |
R5487:Sema3b
|
UTSW |
9 |
107,478,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R5745:Sema3b
|
UTSW |
9 |
107,478,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R5751:Sema3b
|
UTSW |
9 |
107,476,913 (GRCm39) |
missense |
probably benign |
|
R6086:Sema3b
|
UTSW |
9 |
107,478,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R6306:Sema3b
|
UTSW |
9 |
107,478,119 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6594:Sema3b
|
UTSW |
9 |
107,476,025 (GRCm39) |
missense |
probably benign |
0.01 |
R6816:Sema3b
|
UTSW |
9 |
107,477,549 (GRCm39) |
missense |
probably benign |
0.08 |
R6833:Sema3b
|
UTSW |
9 |
107,480,515 (GRCm39) |
missense |
probably benign |
0.04 |
R7320:Sema3b
|
UTSW |
9 |
107,478,141 (GRCm39) |
missense |
probably benign |
|
R7448:Sema3b
|
UTSW |
9 |
107,480,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R7687:Sema3b
|
UTSW |
9 |
107,481,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R8839:Sema3b
|
UTSW |
9 |
107,478,552 (GRCm39) |
unclassified |
probably benign |
|
R9090:Sema3b
|
UTSW |
9 |
107,476,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R9123:Sema3b
|
UTSW |
9 |
107,478,173 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9271:Sema3b
|
UTSW |
9 |
107,476,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R9442:Sema3b
|
UTSW |
9 |
107,478,957 (GRCm39) |
critical splice donor site |
probably null |
|
R9682:Sema3b
|
UTSW |
9 |
107,481,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R9755:Sema3b
|
UTSW |
9 |
107,478,784 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Sema3b
|
UTSW |
9 |
107,476,233 (GRCm39) |
splice site |
probably null |
|
Z1176:Sema3b
|
UTSW |
9 |
107,476,838 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2016-08-02 |