Incidental Mutation 'IGL00339:Sema4f'
| ID |
5423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sema4f
|
| Ensembl Gene |
ENSMUSG00000000627 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), TM domain, and short cytoplasmic domain |
| Synonyms |
Sema W |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
82888865-82916724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82914155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 68
(T68A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000641]
[ENSMUST00000203271]
|
| AlphaFold |
Q9Z123 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000641
AA Change: T68A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000000641
Gene: ENSMUSG00000000627
AA Change: T68A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
Sema
|
71 |
502 |
2.23e-170 |
SMART |
|
PSI
|
518 |
569 |
2.64e-12 |
SMART |
|
Blast:Sema
|
607 |
656 |
5e-20 |
BLAST |
|
transmembrane domain
|
665 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203911
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of semaphorin family of membrane-bound and secreted proteins that are involved in guiding axonal growth. The encoded protein is a transmembrane protein localized to the glutamatergic synapses via its association with a synapse-associated scaffolding protein. In oligodendrocyte precursor cells, the encoded protein contributes to the outward migration and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,213,893 (GRCm39) |
M707V |
probably benign |
Het |
| Amz2 |
A |
T |
11: 109,324,847 (GRCm39) |
I244F |
probably damaging |
Het |
| Atp4a |
T |
C |
7: 30,412,629 (GRCm39) |
C112R |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,816 (GRCm39) |
T235A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd8 |
C |
A |
18: 34,742,936 (GRCm39) |
G310* |
probably null |
Het |
| Capn11 |
A |
T |
17: 45,954,693 (GRCm39) |
I148N |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,694,425 (GRCm39) |
L392P |
probably benign |
Het |
| Cep72 |
C |
T |
13: 74,210,387 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,467 (GRCm39) |
Y298C |
possibly damaging |
Het |
| Cyp21a1 |
C |
T |
17: 35,023,108 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,449 (GRCm39) |
D381G |
probably damaging |
Het |
| Fnip2 |
T |
G |
3: 79,422,462 (GRCm39) |
H106P |
probably benign |
Het |
| Fosl1 |
T |
A |
19: 5,500,330 (GRCm39) |
I83K |
probably damaging |
Het |
| Foxk2 |
C |
T |
11: 121,190,560 (GRCm39) |
T567M |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,599,525 (GRCm39) |
N208S |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Heatr5a |
A |
T |
12: 51,935,684 (GRCm39) |
I1634N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,506 (GRCm39) |
T1889M |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,909,845 (GRCm39) |
P457S |
probably damaging |
Het |
| Kcnk18 |
G |
T |
19: 59,223,502 (GRCm39) |
A216S |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,003,231 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrguk |
C |
T |
6: 34,020,364 (GRCm39) |
P36L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,304 (GRCm39) |
R443S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,963,649 (GRCm39) |
S501P |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,795,413 (GRCm39) |
R422W |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,469 (GRCm39) |
S311G |
probably benign |
Het |
| Oaf |
T |
C |
9: 43,135,313 (GRCm39) |
D155G |
probably damaging |
Het |
| Oas1g |
T |
A |
5: 121,024,109 (GRCm39) |
K67* |
probably null |
Het |
| Or1l4 |
T |
C |
2: 37,091,609 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2a20 |
T |
G |
6: 43,194,782 (GRCm39) |
L312V |
probably benign |
Het |
| Rims2 |
C |
A |
15: 39,323,011 (GRCm39) |
T735K |
probably benign |
Het |
| Snx19 |
T |
G |
9: 30,340,380 (GRCm39) |
V506G |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,569,543 (GRCm39) |
C107* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,460,680 (GRCm39) |
|
probably benign |
Het |
| Syce1l |
T |
G |
8: 114,376,134 (GRCm39) |
L28R |
probably damaging |
Het |
| Tgm3 |
G |
A |
2: 129,880,333 (GRCm39) |
V380M |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,143,628 (GRCm39) |
V104D |
possibly damaging |
Het |
|
| Other mutations in Sema4f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01661:Sema4f
|
APN |
6 |
82,895,036 (GRCm39) |
unclassified |
probably benign |
|
|
docking
|
UTSW |
6 |
82,890,626 (GRCm39) |
nonsense |
probably null |
|
|
flagman
|
UTSW |
6 |
82,895,540 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0054:Sema4f
|
UTSW |
6 |
82,896,674 (GRCm39) |
splice site |
probably benign |
|
|
R0054:Sema4f
|
UTSW |
6 |
82,896,674 (GRCm39) |
splice site |
probably benign |
|
|
R0243:Sema4f
|
UTSW |
6 |
82,916,447 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0692:Sema4f
|
UTSW |
6 |
82,916,511 (GRCm39) |
unclassified |
probably benign |
|
|
R0893:Sema4f
|
UTSW |
6 |
82,912,948 (GRCm39) |
splice site |
probably benign |
|
|
R1708:Sema4f
|
UTSW |
6 |
82,894,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Sema4f
|
UTSW |
6 |
82,895,540 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1867:Sema4f
|
UTSW |
6 |
82,894,824 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1899:Sema4f
|
UTSW |
6 |
82,895,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1933:Sema4f
|
UTSW |
6 |
82,907,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Sema4f
|
UTSW |
6 |
82,907,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2433:Sema4f
|
UTSW |
6 |
82,916,490 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3801:Sema4f
|
UTSW |
6 |
82,895,608 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4116:Sema4f
|
UTSW |
6 |
82,894,887 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4745:Sema4f
|
UTSW |
6 |
82,895,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Sema4f
|
UTSW |
6 |
82,894,631 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6015:Sema4f
|
UTSW |
6 |
82,916,553 (GRCm39) |
unclassified |
probably benign |
|
|
R6043:Sema4f
|
UTSW |
6 |
82,896,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6110:Sema4f
|
UTSW |
6 |
82,914,085 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6378:Sema4f
|
UTSW |
6 |
82,894,613 (GRCm39) |
nonsense |
probably null |
|
|
R6449:Sema4f
|
UTSW |
6 |
82,894,851 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6452:Sema4f
|
UTSW |
6 |
82,894,643 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6854:Sema4f
|
UTSW |
6 |
82,894,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Sema4f
|
UTSW |
6 |
82,894,864 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7475:Sema4f
|
UTSW |
6 |
82,891,355 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7555:Sema4f
|
UTSW |
6 |
82,891,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7780:Sema4f
|
UTSW |
6 |
82,890,941 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8254:Sema4f
|
UTSW |
6 |
82,894,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Sema4f
|
UTSW |
6 |
82,894,874 (GRCm39) |
nonsense |
probably null |
|
|
R8828:Sema4f
|
UTSW |
6 |
82,894,873 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8862:Sema4f
|
UTSW |
6 |
82,891,081 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9166:Sema4f
|
UTSW |
6 |
82,890,626 (GRCm39) |
nonsense |
probably null |
|
|
R9218:Sema4f
|
UTSW |
6 |
82,890,480 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9340:Sema4f
|
UTSW |
6 |
82,890,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9690:Sema4f
|
UTSW |
6 |
82,912,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Sema4f
|
UTSW |
6 |
82,912,661 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2012-04-20 |
Incidental Mutation