Incidental Mutation 'IGL02118:Sema6b'
| ID |
280482 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sema6b
|
| Ensembl Gene |
ENSMUSG00000001227 |
| Gene Name |
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B |
| Synonyms |
semaZ, Seman, VIb, Sema |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
IGL02118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56430085-56447343 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 56439821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 7
(P7T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001256]
[ENSMUST00000167545]
|
| AlphaFold |
O54951 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001256
AA Change: P7T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227
AA Change: P7T
| 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: ENSMUST00000167545
AA Change: P7T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227
AA Change: P7T
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,758,865 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Actn2 |
A |
G |
13: 12,291,433 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,704,728 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Aldob |
T |
A |
4: 49,538,790 (GRCm39) |
K243* |
probably null |
Het |
| Arfgap1 |
T |
C |
2: 180,622,237 (GRCm39) |
F274S |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cask |
T |
C |
X: 13,425,634 (GRCm39) |
I471V |
probably damaging |
Het |
| Cdc42ep4 |
C |
T |
11: 113,619,942 (GRCm39) |
G150S |
probably benign |
Het |
| Cpne1 |
T |
G |
2: 155,919,563 (GRCm39) |
D278A |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,748,938 (GRCm39) |
E1856G |
probably damaging |
Het |
| Gm8362 |
A |
T |
14: 18,149,595 (GRCm39) |
V159E |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,462,011 (GRCm39) |
I700V |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,309,334 (GRCm39) |
T221A |
probably benign |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,760,037 (GRCm39) |
K24R |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,407,467 (GRCm39) |
L661P |
probably benign |
Het |
| Per2 |
G |
A |
1: 91,352,031 (GRCm39) |
T825I |
probably damaging |
Het |
| Plscr1l1 |
A |
T |
9: 92,233,011 (GRCm39) |
K45* |
probably null |
Het |
| Pramel20 |
A |
T |
4: 143,297,726 (GRCm39) |
T49S |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,025,963 (GRCm39) |
V19A |
probably damaging |
Het |
| Psmb8 |
T |
A |
17: 34,420,198 (GRCm39) |
D263E |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,779,117 (GRCm39) |
I563T |
probably benign |
Het |
| Retreg1 |
T |
G |
15: 25,966,709 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,524,486 (GRCm39) |
T559A |
probably benign |
Het |
| Rnf31 |
T |
G |
14: 55,836,569 (GRCm39) |
I801S |
probably damaging |
Het |
| Rom1 |
G |
T |
19: 8,906,386 (GRCm39) |
T51N |
possibly damaging |
Het |
| Stpg1 |
A |
G |
4: 135,235,375 (GRCm39) |
|
probably benign |
Het |
| Sugct |
A |
T |
13: 17,627,105 (GRCm39) |
Y249* |
probably null |
Het |
| Tbc1d21 |
C |
T |
9: 58,267,746 (GRCm39) |
V317M |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,327,628 (GRCm39) |
I125V |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,216,186 (GRCm39) |
D19V |
probably damaging |
Het |
| Tti2 |
T |
A |
8: 31,645,537 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
T |
11: 84,923,003 (GRCm39) |
Y142* |
probably null |
Het |
| Vill |
A |
G |
9: 118,889,466 (GRCm39) |
Y134C |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,835,879 (GRCm39) |
D14G |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,896,591 (GRCm39) |
Y223H |
probably damaging |
Het |
| Znhit6 |
G |
T |
3: 145,283,859 (GRCm39) |
C43F |
probably damaging |
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 |
|
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 |
|
|
R1129:Sema6b
|
UTSW |
17 |
56,431,347 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation