Incidental Mutation 'IGL03334:Sema3b'
| ID |
416973 |
| 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 |
SemA, sema5, semaV, Semaa, LUCA-1, SemA |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.343)
|
| Stock # |
IGL03334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107597674-107609229 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107604077 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 78
(L78P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073448]
[ENSMUST00000102529]
[ENSMUST00000102530]
[ENSMUST00000102531]
[ENSMUST00000102532]
[ENSMUST00000123926]
[ENSMUST00000193180]
[ENSMUST00000194433]
[ENSMUST00000195662]
[ENSMUST00000194606]
[ENSMUST00000195057]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073448
AA Change: L78P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073152
Gene: ENSMUSG00000057969
AA Change: L78P
| 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 damaging
Transcript: ENSMUST00000102529
AA Change: L78P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099588
Gene: ENSMUSG00000057969
AA Change: L78P
| 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 damaging
Transcript: ENSMUST00000102530
AA Change: L78P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099589
Gene: ENSMUSG00000057969
AA Change: L78P
| 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 damaging
Transcript: ENSMUST00000102531
AA Change: L78P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099590
Gene: ENSMUSG00000057969
AA Change: L78P
| 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 damaging
Transcript: ENSMUST00000102532
AA Change: L78P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099591
Gene: ENSMUSG00000057969
AA Change: L78P
| 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 damaging
Transcript: ENSMUST00000123926
AA Change: L78P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137952
Gene: ENSMUSG00000057969
AA Change: L78P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Sema
|
55 |
497 |
6.37e-207 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193180
AA Change: L78P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141726
Gene: ENSMUSG00000057969
AA Change: L78P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Sema
|
55 |
148 |
8.2e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193551
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194433
AA Change: L78P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141403
Gene: ENSMUSG00000057969
AA Change: L78P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Sema
|
55 |
172 |
3.5e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195662
AA Change: L78P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141614
Gene: ENSMUSG00000057969
AA Change: L78P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Sema
|
55 |
137 |
8.4e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195472
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194606
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,947,475 |
F762L |
probably benign |
Het |
| A430078G23Rik |
A |
T |
8: 3,388,023 |
I286F |
probably benign |
Het |
| Angpt1 |
T |
A |
15: 42,496,412 |
E208V |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,274,000 |
S562P |
possibly damaging |
Het |
| Asb6 |
T |
C |
2: 30,824,484 |
T205A |
probably benign |
Het |
| B4galnt4 |
G |
A |
7: 141,067,441 |
|
probably null |
Het |
| Clca4a |
A |
T |
3: 144,953,866 |
M743K |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,448,821 |
|
probably benign |
Het |
| Col27a1 |
A |
T |
4: 63,314,722 |
Y359F |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,840,497 |
V125D |
possibly damaging |
Het |
| Ercc3 |
T |
C |
18: 32,240,837 |
|
probably null |
Het |
| Fnbp1l |
A |
G |
3: 122,557,949 |
V315A |
probably benign |
Het |
| Gm17174 |
T |
A |
14: 51,591,963 |
R48* |
probably null |
Het |
| Golga4 |
C |
T |
9: 118,537,233 |
|
probably benign |
Het |
| Grin1 |
C |
T |
2: 25,298,393 |
|
probably null |
Het |
| Ifi203 |
T |
A |
1: 173,937,835 |
K58* |
probably null |
Het |
| Ighv2-9-1 |
A |
G |
12: 113,769,923 |
S93P |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,031,122 |
V594A |
probably benign |
Het |
| Krr1 |
T |
G |
10: 111,980,054 |
S275R |
probably benign |
Het |
| Lars |
T |
C |
18: 42,221,506 |
D792G |
probably benign |
Het |
| Myo1f |
G |
A |
17: 33,598,194 |
R737H |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,413,711 |
H292L |
probably damaging |
Het |
| Nell1 |
C |
A |
7: 50,062,611 |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,748,176 |
F412L |
probably benign |
Het |
| Nlrp3 |
T |
A |
11: 59,549,016 |
I473N |
probably damaging |
Het |
| Olfr338 |
T |
C |
2: 36,377,051 |
Y92H |
possibly damaging |
Het |
| Phf3 |
A |
G |
1: 30,805,729 |
V1383A |
probably damaging |
Het |
| Prss48 |
T |
C |
3: 85,997,318 |
E191G |
probably damaging |
Het |
| Psg25 |
T |
A |
7: 18,529,774 |
L41F |
probably benign |
Het |
| Spen |
G |
T |
4: 141,469,969 |
N3496K |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,584,199 |
H28Q |
possibly damaging |
Het |
| Trpv3 |
T |
A |
11: 73,281,665 |
|
probably benign |
Het |
| Vmn1r218 |
T |
C |
13: 23,136,618 |
L45P |
probably damaging |
Het |
| Vmn2r35 |
T |
A |
7: 7,786,494 |
Y748F |
probably damaging |
Het |
| Vps18 |
C |
T |
2: 119,297,482 |
R929W |
probably damaging |
Het |
| Xpnpep1 |
T |
C |
19: 53,010,146 |
K224E |
probably damaging |
Het |
| Zbed5 |
T |
A |
5: 129,902,355 |
F382I |
possibly damaging |
Het |
|
| Other mutations in Sema3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00674:Sema3b
|
APN |
9 |
107604041 |
critical splice donor site |
probably null |
|
|
IGL02750:Sema3b
|
APN |
9 |
107603164 |
missense |
probably benign |
0.02 |
|
IGL02878:Sema3b
|
APN |
9 |
107600993 |
missense |
probably damaging |
0.97 |
|
IGL03004:Sema3b
|
APN |
9 |
107602915 |
missense |
possibly damaging |
0.72 |
|
IGL03026:Sema3b
|
APN |
9 |
107602063 |
missense |
probably damaging |
1.00 |
|
IGL03129:Sema3b
|
APN |
9 |
107599796 |
unclassified |
probably benign |
|
|
R0373:Sema3b
|
UTSW |
9 |
107602918 |
missense |
probably benign |
0.05 |
|
R0384:Sema3b
|
UTSW |
9 |
107600966 |
missense |
probably damaging |
1.00 |
|
R0883:Sema3b
|
UTSW |
9 |
107604156 |
missense |
possibly damaging |
0.77 |
|
R3916:Sema3b
|
UTSW |
9 |
107600458 |
missense |
probably damaging |
1.00 |
|
R3971:Sema3b
|
UTSW |
9 |
107600368 |
missense |
probably benign |
|
|
R4212:Sema3b
|
UTSW |
9 |
107603398 |
missense |
probably damaging |
1.00 |
|
R4647:Sema3b
|
UTSW |
9 |
107599051 |
missense |
possibly damaging |
0.79 |
|
R4694:Sema3b
|
UTSW |
9 |
107605002 |
missense |
probably benign |
0.03 |
|
R4791:Sema3b
|
UTSW |
9 |
107603813 |
missense |
probably damaging |
1.00 |
|
R4853:Sema3b
|
UTSW |
9 |
107602067 |
splice site |
probably null |
|
|
R5305:Sema3b
|
UTSW |
9 |
107603337 |
missense |
probably null |
1.00 |
|
R5487:Sema3b
|
UTSW |
9 |
107600962 |
missense |
probably damaging |
1.00 |
|
R5745:Sema3b
|
UTSW |
9 |
107601429 |
missense |
probably damaging |
0.98 |
|
R5751:Sema3b
|
UTSW |
9 |
107599714 |
missense |
probably benign |
|
|
R6086:Sema3b
|
UTSW |
9 |
107600848 |
missense |
probably damaging |
1.00 |
|
R6306:Sema3b
|
UTSW |
9 |
107600920 |
missense |
possibly damaging |
0.88 |
|
R6594:Sema3b
|
UTSW |
9 |
107598826 |
missense |
probably benign |
0.01 |
|
R6816:Sema3b
|
UTSW |
9 |
107600350 |
missense |
probably benign |
0.08 |
|
R6833:Sema3b
|
UTSW |
9 |
107603316 |
missense |
probably benign |
0.04 |
|
R7320:Sema3b
|
UTSW |
9 |
107600942 |
missense |
probably benign |
|
|
R7448:Sema3b
|
UTSW |
9 |
107602963 |
missense |
probably damaging |
1.00 |
|
R7687:Sema3b
|
UTSW |
9 |
107603814 |
missense |
probably damaging |
1.00 |
|
R8839:Sema3b
|
UTSW |
9 |
107601353 |
unclassified |
probably benign |
|
|
R9090:Sema3b
|
UTSW |
9 |
107598955 |
missense |
probably damaging |
1.00 |
|
R9123:Sema3b
|
UTSW |
9 |
107600974 |
missense |
possibly damaging |
0.64 |
|
R9271:Sema3b
|
UTSW |
9 |
107598955 |
missense |
probably damaging |
1.00 |
|
R9442:Sema3b
|
UTSW |
9 |
107601758 |
critical splice donor site |
probably null |
|
|
R9682:Sema3b
|
UTSW |
9 |
107603814 |
missense |
probably damaging |
1.00 |
|
R9755:Sema3b
|
UTSW |
9 |
107601585 |
missense |
probably damaging |
1.00 |
|
Z1088:Sema3b
|
UTSW |
9 |
107599034 |
splice site |
probably null |
|
|
Z1176:Sema3b
|
UTSW |
9 |
107599639 |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2016-08-02 |
Incidental Mutation