Incidental Mutation 'R4116:Sema4f'
| ID |
314631 |
| 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 |
040859-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4116 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
82888865-82916724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82894887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 436
(T436M)
|
| 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: T436M
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000000641
Gene: ENSMUSG00000000627
AA Change: T436M
| 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: ENSMUST00000113982
AA Change: T436M
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109615
Gene: ENSMUSG00000000627
AA Change: T436M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
Sema
|
71 |
502 |
2.23e-170 |
SMART |
|
PSI
|
518 |
554 |
4.01e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125579
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203911
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
| 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 |
|---|
| Abcc10 |
A |
T |
17: 46,634,817 (GRCm39) |
F395L |
possibly damaging |
Het |
| Amigo1 |
C |
T |
3: 108,095,761 (GRCm39) |
T420I |
probably damaging |
Het |
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Cald1 |
C |
T |
6: 34,722,654 (GRCm39) |
R107C |
probably damaging |
Het |
| Cast |
C |
T |
13: 74,872,956 (GRCm39) |
E444K |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,598,377 (GRCm39) |
E308G |
probably damaging |
Het |
| Crybg1 |
T |
G |
10: 43,875,158 (GRCm39) |
N650T |
possibly damaging |
Het |
| Cyp19a1 |
T |
A |
9: 54,076,025 (GRCm39) |
R276S |
possibly damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
| Hoxd13 |
C |
A |
2: 74,498,832 (GRCm39) |
A60E |
possibly damaging |
Het |
| Igkv3-7 |
G |
T |
6: 70,584,923 (GRCm39) |
G88C |
probably damaging |
Het |
| Kcnk12 |
GGCATCGC |
GGCATCGCATCGC |
17: 88,053,584 (GRCm39) |
|
probably null |
Het |
| Klhl30 |
C |
A |
1: 91,281,830 (GRCm39) |
Q144K |
probably benign |
Het |
| Kprp |
A |
T |
3: 92,731,275 (GRCm39) |
S592T |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,047,589 (GRCm39) |
|
probably null |
Het |
| Mbtps1 |
A |
T |
8: 120,268,391 (GRCm39) |
M260K |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,673,476 (GRCm39) |
T767A |
probably benign |
Het |
| Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,683,320 (GRCm39) |
I22T |
probably benign |
Het |
| Or7g27 |
T |
G |
9: 19,249,940 (GRCm39) |
F61L |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,409,113 (GRCm39) |
V1369A |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,622,560 (GRCm39) |
F365Y |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Sf3a2 |
A |
G |
10: 80,637,175 (GRCm39) |
T37A |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,623,723 (GRCm39) |
M41V |
probably benign |
Het |
| Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,433,928 (GRCm39) |
L911P |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,977,853 (GRCm39) |
I1433F |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,384,405 (GRCm39) |
V644I |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,227,615 (GRCm39) |
L210P |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,277,909 (GRCm39) |
Y229H |
probably damaging |
Het |
| Unc5b |
G |
T |
10: 60,610,479 (GRCm39) |
T446K |
probably damaging |
Het |
| Wdr95 |
C |
A |
5: 149,521,040 (GRCm39) |
D604E |
probably benign |
Het |
| Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (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 |
|
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'- AATGGCTTAGCTGGCACTG -3'
(R):5'- CGTAAAGGACAAGAGCTTTGC -3'
Sequencing Primer
(F):5'- ACTGTGCCTGGAACCCTG -3'
(R):5'- TGTTCCCTGAGAAACATTGTCAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation