Incidental Mutation 'R6086:Sema3b'
| ID |
482491 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
044427-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.434)
|
| Stock # |
R6086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107597674-107609229 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107600848 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 446
(D446G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073448]
[ENSMUST00000102529]
[ENSMUST00000102530]
[ENSMUST00000102531]
[ENSMUST00000102532]
[ENSMUST00000123926]
[ENSMUST00000193180]
[ENSMUST00000194433]
[ENSMUST00000194606]
[ENSMUST00000195057]
[ENSMUST00000195662]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073448
AA Change: D446G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073152
Gene: ENSMUSG00000057969
AA Change: D446G
| 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: D446G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099588
Gene: ENSMUSG00000057969
AA Change: D446G
| 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: D446G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099589
Gene: ENSMUSG00000057969
AA Change: D446G
| 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: D446G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099590
Gene: ENSMUSG00000057969
AA Change: D446G
| 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: D446G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099591
Gene: ENSMUSG00000057969
AA Change: D446G
| 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: D446G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137952
Gene: ENSMUSG00000057969
AA Change: D446G
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000193234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193551
|
| 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: ENSMUST00000194606
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195472
|
| 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 |
|
| Meta Mutation Damage Score |
0.8291 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (65/68) |
| 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 |
|---|
| 3110062M04Rik |
A |
G |
6: 34,874,620 (GRCm38) |
S127P |
probably damaging |
Het |
| Apob |
G |
T |
12: 8,015,164 (GRCm38) |
K4044N |
probably benign |
Het |
| Asic4 |
G |
A |
1: 75,473,243 (GRCm38) |
V468I |
possibly damaging |
Het |
| Atf4 |
T |
A |
15: 80,257,453 (GRCm38) |
V348D |
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,205,524 (GRCm38) |
V1205A |
possibly damaging |
Het |
| Bora |
A |
T |
14: 99,062,294 (GRCm38) |
Q234L |
possibly damaging |
Het |
| Cap2 |
C |
A |
13: 46,635,712 (GRCm38) |
P131Q |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 116,589,296 (GRCm38) |
S318P |
probably damaging |
Het |
| Ces1a |
T |
G |
8: 93,027,353 (GRCm38) |
N341H |
probably benign |
Het |
| Crlf3 |
C |
T |
11: 80,048,610 (GRCm38) |
V352M |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,450,750 (GRCm38) |
D246H |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,516,008 (GRCm38) |
T529A |
probably benign |
Het |
| Dnah9 |
A |
C |
11: 66,085,174 (GRCm38) |
S1350A |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,989,915 (GRCm38) |
D2619N |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,597,807 (GRCm38) |
S65L |
probably benign |
Het |
| Dnm3 |
C |
A |
1: 162,321,033 (GRCm38) |
R256S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,845,834 (GRCm38) |
D795G |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,588,912 (GRCm38) |
W367R |
probably damaging |
Het |
| Fam220a |
T |
A |
5: 143,563,041 (GRCm38) |
H69Q |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,287,296 (GRCm38) |
T220S |
probably benign |
Het |
| Furin |
G |
T |
7: 80,395,431 (GRCm38) |
H248Q |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,754,053 (GRCm38) |
L410Q |
probably damaging |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,663,803 (GRCm38) |
|
probably null |
Het |
| Gm9742 |
T |
C |
13: 8,030,033 (GRCm38) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
G |
2: 132,538,114 (GRCm38) |
S252P |
probably damaging |
Het |
| Hnrnpdl |
C |
T |
5: 100,036,481 (GRCm38) |
G398S |
probably null |
Het |
| Hspa1l |
T |
C |
17: 34,978,155 (GRCm38) |
V390A |
possibly damaging |
Het |
| Htr3b |
T |
C |
9: 48,947,298 (GRCm38) |
S94G |
probably benign |
Het |
| Klf10 |
G |
T |
15: 38,296,937 (GRCm38) |
S271R |
probably benign |
Het |
| Klk1b3 |
T |
A |
7: 44,201,734 (GRCm38) |
L197Q |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 119,094,068 (GRCm38) |
R1861G |
probably damaging |
Het |
| Lexm |
T |
C |
4: 106,613,206 (GRCm38) |
E218G |
probably damaging |
Het |
| Myo9a |
C |
T |
9: 59,790,057 (GRCm38) |
Q374* |
probably null |
Het |
| Myt1l |
G |
A |
12: 29,832,332 (GRCm38) |
G509R |
unknown |
Het |
| Ncapg |
T |
C |
5: 45,693,236 (GRCm38) |
L728P |
probably damaging |
Het |
| Nfxl1 |
A |
C |
5: 72,541,019 (GRCm38) |
F228V |
probably benign |
Het |
| Oc90 |
A |
G |
15: 65,889,711 (GRCm38) |
S153P |
probably damaging |
Het |
| Olfr1230 |
A |
G |
2: 89,296,854 (GRCm38) |
C139R |
probably damaging |
Het |
| Olfr1458 |
A |
G |
19: 13,102,381 (GRCm38) |
*308Q |
probably null |
Het |
| Pbk |
A |
T |
14: 65,815,253 (GRCm38) |
K182* |
probably null |
Het |
| Piezo1 |
A |
G |
8: 122,501,657 (GRCm38) |
F296S |
possibly damaging |
Het |
| Psmg1 |
T |
A |
16: 95,980,044 (GRCm38) |
Y288F |
probably damaging |
Het |
| Rab11fip4 |
G |
A |
11: 79,683,480 (GRCm38) |
D132N |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,704,587 (GRCm38) |
D1051G |
probably damaging |
Het |
| Reep5 |
A |
C |
18: 34,357,131 (GRCm38) |
D104E |
probably damaging |
Het |
| Rnpepl1 |
T |
C |
1: 92,917,681 (GRCm38) |
Y441H |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,130,285 (GRCm38) |
I157V |
probably benign |
Het |
| Sema4d |
C |
T |
13: 51,713,745 (GRCm38) |
R190Q |
probably damaging |
Het |
| Slco3a1 |
G |
A |
7: 74,318,590 (GRCm38) |
R461C |
possibly damaging |
Het |
| Tcrg-C3 |
T |
C |
13: 19,263,284 (GRCm38) |
S136P |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,008,646 (GRCm38) |
I2562F |
possibly damaging |
Het |
| Thegl |
T |
A |
5: 77,061,305 (GRCm38) |
V458E |
probably benign |
Het |
| Tmem40 |
G |
T |
6: 115,733,667 (GRCm38) |
N120K |
possibly damaging |
Het |
| Tmod3 |
T |
C |
9: 75,500,123 (GRCm38) |
H351R |
probably benign |
Het |
| Tnn |
C |
T |
1: 160,086,120 (GRCm38) |
V1268M |
probably damaging |
Het |
| Tpmt |
T |
A |
13: 47,035,030 (GRCm38) |
D132V |
probably damaging |
Het |
| Trib1 |
G |
A |
15: 59,654,475 (GRCm38) |
R298H |
probably damaging |
Het |
| Tsen2 |
A |
G |
6: 115,560,075 (GRCm38) |
E264G |
probably benign |
Het |
| Urah |
A |
G |
7: 140,836,798 (GRCm38) |
I60M |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,039,560 (GRCm38) |
S328T |
possibly damaging |
Het |
| Vmn2r27 |
G |
C |
6: 124,191,999 (GRCm38) |
T724R |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,256,216 (GRCm38) |
|
probably null |
Het |
| Wdyhv1 |
C |
A |
15: 58,150,628 (GRCm38) |
A71E |
probably damaging |
Het |
| Zfp955b |
T |
A |
17: 33,302,504 (GRCm38) |
W316R |
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,543,246 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Sema3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00674:Sema3b
|
APN |
9 |
107,604,041 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02750:Sema3b
|
APN |
9 |
107,603,164 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02878:Sema3b
|
APN |
9 |
107,600,993 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03004:Sema3b
|
APN |
9 |
107,602,915 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL03026:Sema3b
|
APN |
9 |
107,602,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03129:Sema3b
|
APN |
9 |
107,599,796 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03334:Sema3b
|
APN |
9 |
107,604,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0373:Sema3b
|
UTSW |
9 |
107,602,918 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0384:Sema3b
|
UTSW |
9 |
107,600,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0883:Sema3b
|
UTSW |
9 |
107,604,156 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R3916:Sema3b
|
UTSW |
9 |
107,600,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3971:Sema3b
|
UTSW |
9 |
107,600,368 (GRCm38) |
missense |
probably benign |
|
|
R4212:Sema3b
|
UTSW |
9 |
107,603,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4647:Sema3b
|
UTSW |
9 |
107,599,051 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R4694:Sema3b
|
UTSW |
9 |
107,605,002 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4791:Sema3b
|
UTSW |
9 |
107,603,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4853:Sema3b
|
UTSW |
9 |
107,602,067 (GRCm38) |
splice site |
probably null |
|
|
R5305:Sema3b
|
UTSW |
9 |
107,603,337 (GRCm38) |
missense |
probably null |
1.00 |
|
R5487:Sema3b
|
UTSW |
9 |
107,600,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5745:Sema3b
|
UTSW |
9 |
107,601,429 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5751:Sema3b
|
UTSW |
9 |
107,599,714 (GRCm38) |
missense |
probably benign |
|
|
R6306:Sema3b
|
UTSW |
9 |
107,600,920 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6594:Sema3b
|
UTSW |
9 |
107,598,826 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6816:Sema3b
|
UTSW |
9 |
107,600,350 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6833:Sema3b
|
UTSW |
9 |
107,603,316 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7320:Sema3b
|
UTSW |
9 |
107,600,942 (GRCm38) |
missense |
probably benign |
|
|
R7448:Sema3b
|
UTSW |
9 |
107,602,963 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7687:Sema3b
|
UTSW |
9 |
107,603,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8839:Sema3b
|
UTSW |
9 |
107,601,353 (GRCm38) |
unclassified |
probably benign |
|
|
R9090:Sema3b
|
UTSW |
9 |
107,598,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9123:Sema3b
|
UTSW |
9 |
107,600,974 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R9271:Sema3b
|
UTSW |
9 |
107,598,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9442:Sema3b
|
UTSW |
9 |
107,601,758 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9682:Sema3b
|
UTSW |
9 |
107,603,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9755:Sema3b
|
UTSW |
9 |
107,601,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Sema3b
|
UTSW |
9 |
107,599,034 (GRCm38) |
splice site |
probably null |
|
|
Z1176:Sema3b
|
UTSW |
9 |
107,599,639 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTGAAACAATGACCAGAGCC -3'
(R):5'- TGTATCTCTGCCTGACGCAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation