Incidental Mutation 'R6854:Sema4f'
| ID |
535143 |
| 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 |
044957-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
82888865-82916724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82894983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 404
(L404P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000641]
[ENSMUST00000203271]
|
| AlphaFold |
Q9Z123 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000641
AA Change: L404P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000641
Gene: ENSMUSG00000000627
AA Change: L404P
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,992,599 (GRCm39) |
S4628P |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,390,920 (GRCm39) |
R735H |
possibly damaging |
Het |
| Atp4a |
T |
C |
7: 30,414,433 (GRCm39) |
V152A |
probably benign |
Het |
| BC035947 |
G |
A |
1: 78,475,125 (GRCm39) |
T469I |
probably damaging |
Het |
| Bicra |
A |
T |
7: 15,722,687 (GRCm39) |
S277T |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,881,127 (GRCm39) |
N1142K |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,889,645 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,708,995 (GRCm39) |
K79E |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,269,391 (GRCm39) |
|
probably null |
Het |
| Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,502,638 (GRCm39) |
R330H |
probably damaging |
Het |
| Gm6034 |
T |
A |
17: 36,368,110 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,309,983 (GRCm39) |
E741G |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,004,258 (GRCm39) |
V448A |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,702,382 (GRCm39) |
R679G |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,765,381 (GRCm39) |
S70P |
possibly damaging |
Het |
| Maml2 |
C |
T |
9: 13,617,131 (GRCm39) |
T159I |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mycl |
G |
A |
4: 122,894,039 (GRCm39) |
D280N |
probably damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,119,259 (GRCm39) |
T12I |
possibly damaging |
Het |
| Or4f14c |
T |
C |
2: 111,940,992 (GRCm39) |
N202D |
probably benign |
Het |
| Or5h19 |
A |
C |
16: 58,856,428 (GRCm39) |
I224S |
possibly damaging |
Het |
| Palmd |
A |
G |
3: 116,717,112 (GRCm39) |
S462P |
probably benign |
Het |
| Phyhd1 |
A |
C |
2: 30,159,773 (GRCm39) |
I36L |
possibly damaging |
Het |
| Plcd1 |
T |
C |
9: 118,903,389 (GRCm39) |
|
probably null |
Het |
| Pml |
G |
C |
9: 58,127,189 (GRCm39) |
A806G |
probably damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,635,395 (GRCm39) |
A838S |
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,469,402 (GRCm39) |
T169I |
probably damaging |
Het |
| Prr23a1 |
G |
T |
9: 98,724,988 (GRCm39) |
V117L |
possibly damaging |
Het |
| Pus7 |
T |
C |
5: 23,973,845 (GRCm39) |
|
silent |
Het |
| Rdh7 |
T |
C |
10: 127,724,250 (GRCm39) |
E78G |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,570,825 (GRCm39) |
|
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,430 (GRCm39) |
N921S |
possibly damaging |
Het |
| Serinc4 |
T |
A |
2: 121,287,031 (GRCm39) |
M2L |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,604 (GRCm39) |
V138A |
probably benign |
Het |
| Slc66a3 |
G |
A |
12: 17,049,830 (GRCm39) |
L43F |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,775 (GRCm39) |
Q106L |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,650,254 (GRCm39) |
P1821L |
probably damaging |
Het |
| St3gal3 |
C |
A |
4: 117,815,727 (GRCm39) |
M107I |
probably benign |
Het |
| Tmem25 |
T |
C |
9: 44,707,305 (GRCm39) |
K265E |
possibly damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vsig10 |
G |
A |
5: 117,476,472 (GRCm39) |
V309I |
probably benign |
Het |
| Zfp318 |
G |
GAAGAAA |
17: 46,723,468 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- TGCTGTATACCTGTCCCCAG -3'
(R):5'- TGTCATGGACAACGAGGTG -3'
Sequencing Primer
(F):5'- TGTCCCCAGGTAGAGCACATC -3'
(R):5'- ACAACGAGGTGCCCCAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation