Incidental Mutation 'R4131:Sema4g'
| ID |
314691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sema4g
|
| Ensembl Gene |
ENSMUSG00000025207 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G |
| Synonyms |
|
| MMRRC Submission |
040994-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4131 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44977540-44991836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44987358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 501
(F501L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026225]
[ENSMUST00000130549]
[ENSMUST00000179305]
|
| AlphaFold |
Q9WUH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026225
AA Change: F501L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
AA Change: F501L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Sema
|
56 |
487 |
2.38e-165 |
SMART |
|
PSI
|
505 |
556 |
6.59e-13 |
SMART |
|
IG
|
567 |
649 |
6.26e-5 |
SMART |
|
low complexity region
|
650 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130549
AA Change: F501L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
AA Change: F501L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Sema
|
56 |
487 |
2.38e-165 |
SMART |
|
PSI
|
505 |
556 |
6.59e-13 |
SMART |
|
IG
|
567 |
649 |
6.26e-5 |
SMART |
|
low complexity region
|
650 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179305
AA Change: F501L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
AA Change: F501L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Sema
|
56 |
487 |
2.38e-165 |
SMART |
|
PSI
|
505 |
556 |
6.59e-13 |
SMART |
|
IG
|
567 |
649 |
6.26e-5 |
SMART |
|
low complexity region
|
650 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
774 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal cerebellar morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,359,030 (GRCm39) |
|
probably null |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Art3 |
A |
T |
5: 92,540,421 (GRCm39) |
M55L |
probably benign |
Het |
| C1d |
C |
T |
11: 17,214,054 (GRCm39) |
|
probably benign |
Het |
| Ces1c |
A |
G |
8: 93,827,312 (GRCm39) |
M484T |
probably damaging |
Het |
| Cisd3 |
T |
C |
11: 97,579,257 (GRCm39) |
V133A |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,223,937 (GRCm39) |
I230V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,777,987 (GRCm39) |
S537P |
probably damaging |
Het |
| Igha |
C |
A |
12: 113,222,449 (GRCm39) |
|
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Klk1b3 |
T |
A |
7: 43,851,111 (GRCm39) |
N181K |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,205,180 (GRCm39) |
R220S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,917,170 (GRCm39) |
V2252I |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,313,607 (GRCm39) |
C17Y |
probably damaging |
Het |
| Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,143,744 (GRCm39) |
S2* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,959,170 (GRCm39) |
Y217* |
probably null |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,190,953 (GRCm39) |
Q141L |
probably damaging |
Het |
| Prelid2 |
T |
G |
18: 42,084,224 (GRCm39) |
D6A |
possibly damaging |
Het |
| Psmd1 |
T |
C |
1: 86,006,422 (GRCm39) |
S263P |
probably damaging |
Het |
| Rassf6 |
C |
T |
5: 90,757,646 (GRCm39) |
D105N |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,757,328 (GRCm39) |
|
probably null |
Het |
| Ssrp1 |
A |
G |
2: 84,874,791 (GRCm39) |
E537G |
probably null |
Het |
| Try4 |
T |
A |
6: 41,282,335 (GRCm39) |
Y218* |
probably null |
Het |
| Zbtb40 |
G |
T |
4: 136,722,707 (GRCm39) |
S790R |
probably benign |
Het |
|
| Other mutations in Sema4g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01414:Sema4g
|
APN |
19 |
44,986,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01419:Sema4g
|
APN |
19 |
44,985,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02033:Sema4g
|
APN |
19 |
44,985,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02092:Sema4g
|
APN |
19 |
44,981,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02148:Sema4g
|
APN |
19 |
44,984,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02829:Sema4g
|
APN |
19 |
44,981,188 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02837:Sema4g
|
UTSW |
19 |
44,985,150 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0550:Sema4g
|
UTSW |
19 |
44,986,104 (GRCm39) |
missense |
probably benign |
|
|
R0675:Sema4g
|
UTSW |
19 |
44,986,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1202:Sema4g
|
UTSW |
19 |
44,986,696 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1346:Sema4g
|
UTSW |
19 |
44,986,091 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1533:Sema4g
|
UTSW |
19 |
44,981,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Sema4g
|
UTSW |
19 |
44,990,044 (GRCm39) |
nonsense |
probably null |
|
|
R1775:Sema4g
|
UTSW |
19 |
44,987,681 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1803:Sema4g
|
UTSW |
19 |
44,986,459 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1832:Sema4g
|
UTSW |
19 |
44,987,456 (GRCm39) |
missense |
probably benign |
|
|
R1909:Sema4g
|
UTSW |
19 |
44,986,061 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4035:Sema4g
|
UTSW |
19 |
44,989,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4611:Sema4g
|
UTSW |
19 |
44,990,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Sema4g
|
UTSW |
19 |
44,985,010 (GRCm39) |
splice site |
probably null |
|
|
R5921:Sema4g
|
UTSW |
19 |
44,987,143 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7573:Sema4g
|
UTSW |
19 |
44,986,010 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8099:Sema4g
|
UTSW |
19 |
44,980,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8169:Sema4g
|
UTSW |
19 |
44,987,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Sema4g
|
UTSW |
19 |
44,986,866 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8980:Sema4g
|
UTSW |
19 |
44,981,583 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9158:Sema4g
|
UTSW |
19 |
44,986,846 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9487:Sema4g
|
UTSW |
19 |
44,981,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0011:Sema4g
|
UTSW |
19 |
44,987,308 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Sema4g
|
UTSW |
19 |
44,990,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sema4g
|
UTSW |
19 |
44,986,486 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAAGTGTTCAGGGAGCCC -3'
(R):5'- GGCTCACCAACAATACCTTAGAGG -3'
Sequencing Primer
(F):5'- GGGAGCCCCAGTCTGTG -3'
(R):5'- CCAACAATACCTTAGAGGCTGGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation