Incidental Mutation 'R0692:Sema4f'
ID |
63375 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sema4f
|
Ensembl Gene |
ENSMUSG00000000627 |
Gene Name |
sema domain, immunoglobulin domain (Ig), TM domain, and short cytoplasmic domain |
Synonyms |
Sema W |
MMRRC Submission |
038877-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0692 (G1)
|
Quality Score |
114 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
82888865-82916724 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
CCAGCAGCAGCAGCAGCAGC to CCAGCAGCAGCAGCAGC
at 82916511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144745
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000641]
[ENSMUST00000203271]
|
AlphaFold |
Q9Z123 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000641
|
SMART Domains |
Protein: ENSMUSP00000000641 Gene: ENSMUSG00000000627
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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
T |
A |
19: 53,205,383 (GRCm39) |
D44E |
probably damaging |
Het |
Bpifb5 |
T |
C |
2: 154,076,616 (GRCm39) |
V421A |
probably benign |
Het |
Clk4 |
C |
T |
11: 51,172,155 (GRCm39) |
R273* |
probably null |
Het |
Cmya5 |
A |
T |
13: 93,230,357 (GRCm39) |
L1577* |
probably null |
Het |
Col14a1 |
G |
C |
15: 55,205,134 (GRCm39) |
G88A |
unknown |
Het |
Helz2 |
A |
G |
2: 180,882,674 (GRCm39) |
C40R |
probably benign |
Het |
Kcng1 |
T |
A |
2: 168,104,683 (GRCm39) |
I388F |
probably damaging |
Het |
Krt35 |
T |
C |
11: 99,983,896 (GRCm39) |
E368G |
possibly damaging |
Het |
Krt81 |
T |
C |
15: 101,358,053 (GRCm39) |
D400G |
possibly damaging |
Het |
Mcm3ap |
T |
C |
10: 76,319,003 (GRCm39) |
C744R |
probably damaging |
Het |
Or5m3b |
A |
G |
2: 85,872,516 (GRCm39) |
M286V |
probably benign |
Het |
Pde6c |
A |
T |
19: 38,168,698 (GRCm39) |
Y788F |
probably damaging |
Het |
Plxnc1 |
A |
G |
10: 94,673,362 (GRCm39) |
|
probably null |
Het |
Rflnb |
T |
C |
11: 75,918,279 (GRCm39) |
D62G |
probably benign |
Het |
Slc12a1 |
T |
A |
2: 125,036,082 (GRCm39) |
Y651* |
probably null |
Het |
Srbd1 |
T |
C |
17: 86,443,888 (GRCm39) |
T113A |
probably benign |
Het |
Svopl |
A |
T |
6: 37,994,131 (GRCm39) |
L300Q |
probably damaging |
Het |
Trim41 |
C |
T |
11: 48,699,077 (GRCm39) |
|
probably null |
Het |
Vmn1r23 |
C |
A |
6: 57,903,110 (GRCm39) |
E223* |
probably null |
Het |
|
Other mutations in Sema4f |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00339:Sema4f
|
APN |
6 |
82,914,155 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCTGTCACTGGAGTTAGCAGG -3'
(R):5'- AGTCGGGTTGTGTTTCATCTCACC -3'
Sequencing Primer
(F):5'- CTGGAGTTAGCAGGGCAGG -3'
(R):5'- GTGTTTCATCTCACCGCTGC -3'
|
Posted On |
2013-07-30 |