Incidental Mutation 'R1202:Sema4g'
| ID |
100231 |
| 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 |
039272-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1202 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44977540-44991836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44986696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 383
(R383L)
|
| 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: R383L
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
AA Change: R383L
| 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: R383L
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
AA Change: R383L
| 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: R383L
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
AA Change: R383L
| 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 |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
| Validation Efficiency |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
C |
4: 144,250,236 (GRCm39) |
F137L |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,225,835 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,980,850 (GRCm39) |
F294L |
probably damaging |
Het |
| Fmn2 |
A |
T |
1: 174,440,101 (GRCm39) |
K58* |
probably null |
Het |
| Fndc5 |
G |
A |
4: 129,033,238 (GRCm39) |
V102M |
probably damaging |
Het |
| Gle1 |
C |
T |
2: 29,839,277 (GRCm39) |
A523V |
probably damaging |
Het |
| Hoxd11 |
C |
T |
2: 74,512,921 (GRCm39) |
A62V |
possibly damaging |
Het |
| Il23r |
A |
G |
6: 67,455,937 (GRCm39) |
V177A |
possibly damaging |
Het |
| Impdh2 |
G |
A |
9: 108,440,386 (GRCm39) |
R224Q |
probably damaging |
Het |
| Larp4b |
A |
G |
13: 9,216,362 (GRCm39) |
T516A |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,714,748 (GRCm39) |
Y431H |
probably benign |
Het |
| N4bp1 |
T |
C |
8: 87,571,515 (GRCm39) |
T828A |
probably benign |
Het |
| Nphp4 |
G |
A |
4: 152,573,186 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Pacs1 |
G |
A |
19: 5,185,265 (GRCm39) |
P885S |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,336,491 (GRCm39) |
N705S |
probably benign |
Het |
| Slc26a10 |
A |
G |
10: 127,009,217 (GRCm39) |
L648P |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,621,783 (GRCm39) |
V37E |
probably benign |
Het |
| Tmem209 |
C |
G |
6: 30,508,789 (GRCm39) |
V6L |
probably benign |
Het |
| Tmprss11a |
T |
A |
5: 86,559,784 (GRCm39) |
|
probably null |
Het |
| Ube2o |
C |
T |
11: 116,432,408 (GRCm39) |
D853N |
probably damaging |
Het |
| Usp17lb |
G |
A |
7: 104,491,695 (GRCm39) |
S6F |
probably damaging |
Het |
| Vmn2r74 |
G |
A |
7: 85,610,545 (GRCm39) |
T49I |
possibly damaging |
Het |
| Zfp236 |
T |
A |
18: 82,646,291 (GRCm39) |
T1041S |
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 |
|
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 |
|
R4131:Sema4g
|
UTSW |
19 |
44,987,358 (GRCm39) |
missense |
probably benign |
|
|
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'- TTCAGCCATCTGCCGCTATGAC -3'
(R):5'- AAGCACCTGTGCCCAGAAAGAG -3'
Sequencing Primer
(F):5'- CAGGCCCTTTTATGGAGTACCAG -3'
(R):5'- TGCCCAGAAAGAGCAGGTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation