Incidental Mutation 'R6594:Sema3b'
| ID |
524791 |
| 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 |
| MMRRC Submission |
044718-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.341)
|
| Stock # |
R6594 (G1)
|
| Quality Score |
180.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107474873-107486428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107476025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 732
(M732K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073448]
[ENSMUST00000102529]
[ENSMUST00000102530]
[ENSMUST00000102531]
[ENSMUST00000102532]
[ENSMUST00000123926]
[ENSMUST00000194433]
[ENSMUST00000193180]
[ENSMUST00000195662]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073448
AA Change: M732K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000073152
Gene: ENSMUSG00000057969
AA Change: M732K
| 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: ENSMUST00000102529
AA Change: M732K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099588
Gene: ENSMUSG00000057969
AA Change: M732K
| 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: ENSMUST00000102530
AA Change: M732K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099589
Gene: ENSMUSG00000057969
AA Change: M732K
| 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: ENSMUST00000102531
AA Change: M732K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099590
Gene: ENSMUSG00000057969
AA Change: M732K
| 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: ENSMUST00000102532
AA Change: M732K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099591
Gene: ENSMUSG00000057969
AA Change: M732K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000137952
Gene: ENSMUSG00000057969
| 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: 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: 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: ENSMUST00000195472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192996
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (52/54) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,113,432 (GRCm39) |
N296S |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,244,632 (GRCm39) |
N2165I |
possibly damaging |
Het |
| Anpep |
T |
A |
7: 79,491,109 (GRCm39) |
|
probably null |
Het |
| Bcl2a1b |
A |
C |
9: 89,089,647 (GRCm39) |
I145L |
probably benign |
Het |
| Ccar2 |
G |
A |
14: 70,377,925 (GRCm39) |
L687F |
probably damaging |
Het |
| Cd69 |
A |
G |
6: 129,246,537 (GRCm39) |
|
probably null |
Het |
| Chchd10 |
A |
C |
10: 75,772,158 (GRCm39) |
Q43P |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,704,988 (GRCm39) |
E415G |
probably damaging |
Het |
| Defa41 |
A |
G |
8: 21,692,471 (GRCm39) |
|
probably null |
Het |
| Dhx40 |
A |
T |
11: 86,676,599 (GRCm39) |
C172S |
possibly damaging |
Het |
| Epha1 |
G |
A |
6: 42,341,625 (GRCm39) |
T475I |
probably benign |
Het |
| Eri1 |
T |
C |
8: 35,949,687 (GRCm39) |
T91A |
probably damaging |
Het |
| Fscn1 |
C |
T |
5: 142,955,783 (GRCm39) |
A158V |
probably benign |
Het |
| Gm11437 |
C |
T |
11: 84,055,386 (GRCm39) |
G77R |
probably null |
Het |
| Golm1 |
T |
C |
13: 59,812,041 (GRCm39) |
N94D |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Haus4 |
C |
A |
14: 54,781,268 (GRCm39) |
E269D |
possibly damaging |
Het |
| Hyou1 |
T |
C |
9: 44,300,619 (GRCm39) |
M896T |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,091,978 (GRCm39) |
M2174L |
possibly damaging |
Het |
| Kars1 |
T |
C |
8: 112,720,299 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,949,035 (GRCm39) |
M1488V |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,270,267 (GRCm39) |
T4106A |
possibly damaging |
Het |
| Lrrc20 |
G |
A |
10: 61,318,225 (GRCm39) |
V16I |
possibly damaging |
Het |
| Mecr |
T |
A |
4: 131,582,004 (GRCm39) |
V162E |
probably damaging |
Het |
| Ms4a4a |
C |
A |
19: 11,363,778 (GRCm39) |
A102E |
probably damaging |
Het |
| Mycn |
T |
C |
12: 12,990,051 (GRCm39) |
D115G |
probably damaging |
Het |
| Ninj2 |
A |
T |
6: 120,175,750 (GRCm39) |
T138S |
possibly damaging |
Het |
| Oasl2 |
G |
A |
5: 115,044,836 (GRCm39) |
V121I |
probably benign |
Het |
| Or10s1 |
T |
C |
9: 39,986,239 (GRCm39) |
L216P |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,309 (GRCm39) |
S215T |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,127 (GRCm39) |
F61S |
probably damaging |
Het |
| Pcdha11 |
A |
C |
18: 37,144,235 (GRCm39) |
I109L |
probably benign |
Het |
| Pira1 |
T |
A |
7: 3,739,498 (GRCm39) |
K457* |
probably null |
Het |
| Pon1 |
A |
G |
6: 5,185,314 (GRCm39) |
L62P |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,269,126 (GRCm39) |
K1571* |
probably null |
Het |
| Sec24d |
G |
T |
3: 123,087,412 (GRCm39) |
G193C |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,525,201 (GRCm39) |
M1T |
probably null |
Het |
| Sgip1 |
T |
A |
4: 102,819,676 (GRCm39) |
V594E |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,685,410 (GRCm39) |
S197G |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,964,660 (GRCm39) |
V520A |
possibly damaging |
Het |
| Surf6 |
G |
T |
2: 26,792,761 (GRCm39) |
D13E |
possibly damaging |
Het |
| Tmem94 |
G |
A |
11: 115,689,112 (GRCm39) |
R1341H |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
| Traf7 |
A |
G |
17: 24,728,813 (GRCm39) |
V591A |
possibly damaging |
Het |
| Trim72 |
T |
C |
7: 127,609,220 (GRCm39) |
S341P |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,694,351 (GRCm39) |
V398A |
probably damaging |
Het |
| Ube2m |
C |
A |
7: 12,771,617 (GRCm39) |
E14* |
probably null |
Het |
| Unc119 |
T |
A |
11: 78,238,046 (GRCm39) |
Y10N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,642,995 (GRCm39) |
L4119P |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,296,731 (GRCm39) |
S685P |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,486,535 (GRCm39) |
M787V |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,892 (GRCm39) |
H487R |
probably benign |
Het |
| Xcr1 |
A |
G |
9: 123,685,309 (GRCm39) |
I151T |
probably benign |
Het |
| Zfp658 |
T |
C |
7: 43,216,701 (GRCm39) |
S24P |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,650,326 (GRCm39) |
D886G |
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 |
|
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 |
|
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'- TAGGTGTCTCTGTTGGCCCAAG -3'
(R):5'- TTTTCACAACCACTGCGTCG -3'
Sequencing Primer
(F):5'- TCTGTTGGCCCAAGGACCTC -3'
(R):5'- AGGCTGAACGACTGGCAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation