Incidental Mutation 'R1129:Sema6b'
| ID |
262421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sema6b
|
| Ensembl Gene |
ENSMUSG00000001227 |
| Gene Name |
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B |
| Synonyms |
semaZ, Seman, VIb, Sema |
| MMRRC Submission |
039202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R1129 (G1)
|
| Quality Score |
90 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56430085-56447343 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56431347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 772
(E772G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001256]
[ENSMUST00000041357]
[ENSMUST00000167545]
|
| AlphaFold |
O54951 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001256
AA Change: E772G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227
AA Change: E772G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
21 |
N/A |
INTRINSIC |
|
Sema
|
66 |
496 |
2.48e-177 |
SMART |
|
PSI
|
527 |
581 |
4.09e-1 |
SMART |
|
transmembrane domain
|
604 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
866 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041357
|
| SMART Domains |
Protein: ENSMUSP00000038048
Gene: ENSMUSG00000037095
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
LRR
|
84 |
107 |
1.86e0 |
SMART |
|
LRR_TYP
|
108 |
131 |
3.63e-3 |
SMART |
|
LRR
|
133 |
155 |
5.89e1 |
SMART |
|
LRR_TYP
|
156 |
179 |
1.45e-2 |
SMART |
|
LRR_TYP
|
180 |
203 |
8.47e-4 |
SMART |
|
LRR
|
205 |
227 |
2.08e1 |
SMART |
|
LRR
|
229 |
251 |
1.91e1 |
SMART |
|
LRR
|
252 |
275 |
5.34e-1 |
SMART |
|
LRRCT
|
292 |
342 |
9.69e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167545
AA Change: E772G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227
AA Change: E772G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
21 |
N/A |
INTRINSIC |
|
Sema
|
66 |
496 |
2.48e-177 |
SMART |
|
PSI
|
527 |
581 |
4.09e-1 |
SMART |
|
transmembrane domain
|
604 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
866 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mossy fiber and mossy cell axon projections, thickened suprapyramidal bundles, and elongated infrapyramydal bundles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1 |
G |
C |
2: 179,814,712 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
A |
T |
2: 118,445,487 (GRCm39) |
D269V |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,822,535 (GRCm39) |
N828S |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,136,201 (GRCm39) |
S1152P |
unknown |
Het |
| Cnnm3 |
T |
C |
1: 36,552,097 (GRCm39) |
L369P |
probably damaging |
Het |
| Cxadr |
A |
G |
16: 78,133,321 (GRCm39) |
K360R |
probably benign |
Het |
| Dlg2 |
G |
A |
7: 92,080,382 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,238,635 (GRCm39) |
V3779A |
probably benign |
Het |
| Fbxo16 |
G |
A |
14: 65,532,981 (GRCm39) |
R161K |
probably benign |
Het |
| Gm9726 |
T |
A |
12: 93,895,300 (GRCm39) |
|
noncoding transcript |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,448,662 (GRCm39) |
T337A |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,744,226 (GRCm39) |
L1510S |
probably benign |
Het |
| Kansl2 |
T |
C |
15: 98,431,462 (GRCm39) |
Y63C |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,937,790 (GRCm39) |
E233G |
possibly damaging |
Het |
| Naca |
T |
C |
10: 127,876,071 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
G |
T |
19: 46,052,245 (GRCm39) |
A591S |
probably benign |
Het |
| Sbsn |
C |
T |
7: 30,452,865 (GRCm39) |
P627S |
probably benign |
Het |
| Tmem33 |
A |
G |
5: 67,421,803 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,180,565 (GRCm39) |
|
probably null |
Het |
| Ubqlnl |
A |
T |
7: 103,798,857 (GRCm39) |
H213Q |
probably damaging |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,331 (GRCm39) |
M43T |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,712 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
A |
G |
8: 122,335,154 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sema6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Sema6b
|
APN |
17 |
56,437,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01102:Sema6b
|
APN |
17 |
56,439,761 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01533:Sema6b
|
APN |
17 |
56,436,499 (GRCm39) |
splice site |
probably benign |
|
|
IGL01611:Sema6b
|
APN |
17 |
56,436,969 (GRCm39) |
splice site |
probably null |
|
|
IGL01996:Sema6b
|
APN |
17 |
56,438,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Sema6b
|
APN |
17 |
56,439,821 (GRCm39) |
missense |
probably benign |
|
|
R0010:Sema6b
|
UTSW |
17 |
56,431,105 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0066:Sema6b
|
UTSW |
17 |
56,435,271 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0066:Sema6b
|
UTSW |
17 |
56,435,271 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0525:Sema6b
|
UTSW |
17 |
56,433,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0635:Sema6b
|
UTSW |
17 |
56,436,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1927:Sema6b
|
UTSW |
17 |
56,439,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2211:Sema6b
|
UTSW |
17 |
56,431,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4081:Sema6b
|
UTSW |
17 |
56,435,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5013:Sema6b
|
UTSW |
17 |
56,439,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5296:Sema6b
|
UTSW |
17 |
56,434,091 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5314:Sema6b
|
UTSW |
17 |
56,435,413 (GRCm39) |
nonsense |
probably null |
|
|
R6317:Sema6b
|
UTSW |
17 |
56,431,047 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6419:Sema6b
|
UTSW |
17 |
56,439,784 (GRCm39) |
nonsense |
probably null |
|
|
R7255:Sema6b
|
UTSW |
17 |
56,432,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7289:Sema6b
|
UTSW |
17 |
56,432,573 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7805:Sema6b
|
UTSW |
17 |
56,438,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Sema6b
|
UTSW |
17 |
56,435,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Sema6b
|
UTSW |
17 |
56,431,803 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8305:Sema6b
|
UTSW |
17 |
56,434,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Sema6b
|
UTSW |
17 |
56,439,500 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
|
| Posted On |
2015-02-04 |
Incidental Mutation