Incidental Mutation 'R6015:Sema4f'
| ID |
478556 |
| 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 |
043254-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6015 (G1)
|
| Quality Score |
143.008 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
82888865-82916724 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 82916553 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 |
unknown
Transcript: ENSMUST00000000641
AA Change: S18P
|
| SMART Domains |
Protein: ENSMUSP00000000641
Gene: ENSMUSG00000000627
AA Change: S18P
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
C |
7: 51,224,525 (GRCm39) |
S480R |
probably benign |
Het |
| Aqr |
A |
G |
2: 114,005,646 (GRCm39) |
M1T |
probably null |
Het |
| Arhgef28 |
A |
G |
13: 98,211,530 (GRCm39) |
V151A |
possibly damaging |
Het |
| Atp6v1b2 |
T |
A |
8: 69,555,148 (GRCm39) |
I170N |
probably damaging |
Het |
| Atxn2 |
T |
A |
5: 121,949,055 (GRCm39) |
V817D |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,143,761 (GRCm39) |
I2950S |
probably damaging |
Het |
| Ces1h |
A |
G |
8: 94,083,691 (GRCm39) |
L417P |
unknown |
Het |
| Cimap3 |
T |
C |
3: 105,906,937 (GRCm39) |
D154G |
possibly damaging |
Het |
| Csf1r |
A |
G |
18: 61,242,784 (GRCm39) |
E49G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,287,346 (GRCm39) |
S726P |
possibly damaging |
Het |
| Grik2 |
A |
T |
10: 49,399,959 (GRCm39) |
|
probably null |
Het |
| Il9r |
A |
G |
11: 32,142,674 (GRCm39) |
V287A |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,692,143 (GRCm39) |
C909R |
possibly damaging |
Het |
| Kat7 |
G |
A |
11: 95,174,860 (GRCm39) |
H384Y |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,827,185 (GRCm39) |
S2272P |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,386,100 (GRCm39) |
H371R |
probably benign |
Het |
| Moxd2 |
A |
T |
6: 40,860,688 (GRCm39) |
Y310N |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 59,208,209 (GRCm39) |
E685V |
probably damaging |
Het |
| Ogfr |
G |
T |
2: 180,236,467 (GRCm39) |
G351W |
probably damaging |
Het |
| Or52ac1 |
G |
T |
7: 104,245,915 (GRCm39) |
P158T |
probably damaging |
Het |
| Parp3 |
C |
T |
9: 106,351,481 (GRCm39) |
V207M |
possibly damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,486,146 (GRCm39) |
|
probably null |
Het |
| Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
| Pik3ap1 |
T |
A |
19: 41,316,640 (GRCm39) |
Y250F |
probably benign |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,206 (GRCm39) |
I188N |
probably damaging |
Het |
| Prmt7 |
T |
G |
8: 106,961,640 (GRCm39) |
|
probably benign |
Het |
| Psapl1 |
T |
C |
5: 36,361,594 (GRCm39) |
V62A |
probably benign |
Het |
| Relch |
T |
C |
1: 105,619,683 (GRCm39) |
L280S |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,090,462 (GRCm38) |
V129I |
probably benign |
Het |
| Serpinb13 |
C |
A |
1: 106,928,337 (GRCm39) |
A319E |
probably benign |
Het |
| Sez6l2 |
A |
T |
7: 126,552,625 (GRCm39) |
S134C |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,059,046 (GRCm39) |
H184Q |
probably benign |
Het |
| Slc9a9 |
G |
T |
9: 94,821,602 (GRCm39) |
A330S |
probably benign |
Het |
| Sord |
T |
C |
2: 122,087,424 (GRCm39) |
V176A |
probably damaging |
Het |
| Ssbp2 |
G |
T |
13: 91,817,862 (GRCm39) |
|
probably null |
Het |
| Stab2 |
G |
T |
10: 86,773,906 (GRCm39) |
N808K |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,296,819 (GRCm39) |
|
probably null |
Het |
| Tpcn2 |
A |
G |
7: 144,820,588 (GRCm39) |
V341A |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,177,995 (GRCm39) |
S2941* |
probably null |
Het |
| Utrn |
T |
A |
10: 12,354,168 (GRCm39) |
H2806L |
possibly damaging |
Het |
| Vmn1r40 |
C |
A |
6: 89,691,588 (GRCm39) |
A135D |
probably damaging |
Het |
| Vmn1r68 |
C |
T |
7: 10,261,616 (GRCm39) |
V161M |
probably benign |
Het |
| Wiz |
T |
A |
17: 32,606,574 (GRCm39) |
I54F |
probably damaging |
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 |
|
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'- TGTCACTGGAGTTAGCAGGG -3'
(R):5'- GAAGAAACCGGTCCTCCATTGG -3'
Sequencing Primer
(F):5'- CTGGAGTTAGCAGGGCAGGTG -3'
(R):5'- CGGGTTGTGTTTCATCTCACCG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation