Incidental Mutation 'R4853:Sema3b'
| ID |
373723 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4853 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107474873-107486428 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1269 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 107479266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073448]
[ENSMUST00000102529]
[ENSMUST00000102530]
[ENSMUST00000102531]
[ENSMUST00000102532]
[ENSMUST00000123926]
[ENSMUST00000195662]
[ENSMUST00000194606]
[ENSMUST00000194433]
[ENSMUST00000193180]
[ENSMUST00000195057]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073448
AA Change: E235K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073152
Gene: ENSMUSG00000057969
AA Change: E235K
| 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: E235K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099588
Gene: ENSMUSG00000057969
AA Change: E235K
| 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: E235K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099589
Gene: ENSMUSG00000057969
AA Change: E235K
| 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: E235K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099590
Gene: ENSMUSG00000057969
AA Change: E235K
| 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: E235K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099591
Gene: ENSMUSG00000057969
AA Change: E235K
| 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: E235K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000137952
Gene: ENSMUSG00000057969
AA Change: E235K
| 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: ENSMUST00000191791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193551
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000194606
|
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000195057
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Abr |
T |
C |
11: 76,355,087 (GRCm39) |
T244A |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,375,782 (GRCm39) |
N803K |
probably benign |
Het |
| Afm |
T |
C |
5: 90,699,326 (GRCm39) |
F590S |
probably damaging |
Het |
| Agk |
T |
C |
6: 40,360,753 (GRCm39) |
|
probably null |
Het |
| Agrn |
C |
T |
4: 156,270,007 (GRCm39) |
|
probably null |
Het |
| Apon |
A |
G |
10: 128,090,951 (GRCm39) |
S210G |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,986,098 (GRCm39) |
E395G |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,205,861 (GRCm39) |
L671H |
probably damaging |
Het |
| Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
| Ccdc154 |
A |
T |
17: 25,389,941 (GRCm39) |
I524F |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,460,348 (GRCm39) |
I525K |
probably damaging |
Het |
| Cpne5 |
A |
T |
17: 29,380,172 (GRCm39) |
V448E |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,195,361 (GRCm39) |
I261V |
possibly damaging |
Het |
| Crybb2 |
T |
C |
5: 113,211,054 (GRCm39) |
E78G |
probably damaging |
Het |
| Ctps1 |
G |
T |
4: 120,411,207 (GRCm39) |
L270I |
probably damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,074,060 (GRCm39) |
D431G |
probably benign |
Het |
| Cyp3a57 |
T |
G |
5: 145,302,489 (GRCm39) |
V95G |
probably damaging |
Het |
| Ddx54 |
A |
G |
5: 120,761,694 (GRCm39) |
D490G |
probably benign |
Het |
| Dnai2 |
A |
T |
11: 114,635,917 (GRCm39) |
I301F |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,541,793 (GRCm39) |
S767G |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,523,189 (GRCm39) |
|
probably null |
Het |
| Ermap |
G |
A |
4: 119,044,451 (GRCm39) |
P115L |
probably damaging |
Het |
| Esrra |
T |
G |
19: 6,897,440 (GRCm39) |
T106P |
probably damaging |
Het |
| Exoc5 |
GTATT |
GT |
14: 49,289,826 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gnl3 |
T |
C |
14: 30,737,270 (GRCm39) |
K203E |
probably damaging |
Het |
| H2ac13 |
A |
G |
13: 21,900,866 (GRCm39) |
E92G |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,299,623 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
A |
C |
15: 99,139,970 (GRCm39) |
D952A |
possibly damaging |
Het |
| Kif27 |
T |
C |
13: 58,459,072 (GRCm39) |
K920E |
probably benign |
Het |
| Kmt2e |
C |
T |
5: 23,707,339 (GRCm39) |
P1634L |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,104,846 (GRCm39) |
M1312K |
possibly damaging |
Het |
| Myh14 |
T |
A |
7: 44,257,872 (GRCm39) |
Q1921L |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,102,169 (GRCm39) |
V68A |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,158,247 (GRCm39) |
F444L |
unknown |
Het |
| Nedd9 |
A |
G |
13: 41,469,837 (GRCm39) |
Y439H |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,416,317 (GRCm39) |
H1454Q |
probably benign |
Het |
| Or10v9 |
T |
A |
19: 11,832,645 (GRCm39) |
D224V |
probably benign |
Het |
| Or51v8 |
G |
T |
7: 103,320,010 (GRCm39) |
T76K |
probably damaging |
Het |
| Or5i1 |
T |
G |
2: 87,613,526 (GRCm39) |
F214C |
probably benign |
Het |
| Or9m1b |
A |
G |
2: 87,836,448 (GRCm39) |
S216P |
probably damaging |
Het |
| P4ha2 |
G |
A |
11: 54,010,996 (GRCm39) |
S337N |
probably benign |
Het |
| Pck1 |
T |
A |
2: 172,996,507 (GRCm39) |
Y140* |
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,623,079 (GRCm39) |
M656V |
probably damaging |
Het |
| Pif1 |
T |
C |
9: 65,500,858 (GRCm39) |
W559R |
probably damaging |
Het |
| Pllp |
T |
C |
8: 95,406,022 (GRCm39) |
Y87C |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,046 (GRCm39) |
N623D |
probably benign |
Het |
| Prkcg |
C |
T |
7: 3,367,469 (GRCm39) |
R345C |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,433,325 (GRCm39) |
I147V |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,132,018 (GRCm39) |
L1649Q |
probably damaging |
Het |
| Sh3rf3 |
G |
A |
10: 58,919,341 (GRCm39) |
R486H |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,072,345 (GRCm39) |
K624E |
possibly damaging |
Het |
| Slain2 |
A |
G |
5: 73,105,941 (GRCm39) |
N192S |
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,450,047 (GRCm39) |
I161N |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,524,232 (GRCm39) |
K562E |
possibly damaging |
Het |
| Sumf1 |
A |
G |
6: 108,162,456 (GRCm39) |
L21S |
probably benign |
Het |
| Sytl3 |
T |
A |
17: 7,005,164 (GRCm39) |
S380T |
probably damaging |
Het |
| Tgfb1i1 |
T |
A |
7: 127,847,840 (GRCm39) |
C74* |
probably null |
Het |
| Tmprss15 |
T |
G |
16: 78,757,479 (GRCm39) |
I939L |
probably benign |
Het |
| Tpsb2 |
GGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTG |
17: 25,585,536 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,215,639 (GRCm39) |
V139E |
probably damaging |
Het |
| Wdr27 |
A |
G |
17: 15,137,475 (GRCm39) |
|
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,001 (GRCm39) |
V510A |
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 |
|
IGL03004:Sema3b
|
APN |
9 |
107,480,114 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAGCAAGACCATCGCAG -3'
(R):5'- CATGGTCAGAAAGCCCTGTAAAG -3'
Sequencing Primer
(F):5'- CATCGCAGGCAAAGGGTC -3'
(R):5'- GCGCTCGTAGCTATGGTCTC -3'
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| Posted On |
2016-03-01 |
Incidental Mutation