Incidental Mutation 'IGL02829:Sema4g'
ID |
361360 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sema4g
|
Ensembl Gene |
ENSMUSG00000025207 |
Gene Name |
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02829
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
44977540-44991836 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 44981188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 47
(R47Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026225]
[ENSMUST00000130549]
[ENSMUST00000179305]
|
AlphaFold |
Q9WUH7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026225
AA Change: R47Q
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000026225 Gene: ENSMUSG00000025207 AA Change: R47Q
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 |
possibly damaging
Transcript: ENSMUST00000130549
AA Change: R47Q
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138321 Gene: ENSMUSG00000025207 AA Change: R47Q
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 |
possibly damaging
Transcript: ENSMUST00000179305
AA Change: R47Q
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000137395 Gene: ENSMUSG00000025207 AA Change: R47Q
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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bbs9 |
A |
G |
9: 22,490,780 (GRCm39) |
T303A |
probably damaging |
Het |
Bet1 |
T |
A |
6: 4,086,795 (GRCm39) |
M1L |
probably benign |
Het |
Bicc1 |
A |
C |
10: 70,794,710 (GRCm39) |
V149G |
probably damaging |
Het |
Braf |
C |
A |
6: 39,604,662 (GRCm39) |
L655F |
possibly damaging |
Het |
Cd101 |
A |
G |
3: 100,925,881 (GRCm39) |
|
probably benign |
Het |
Cobll1 |
T |
C |
2: 64,956,389 (GRCm39) |
K290E |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,811,506 (GRCm39) |
I671K |
unknown |
Het |
D130052B06Rik |
A |
C |
11: 33,573,864 (GRCm39) |
T154P |
probably benign |
Het |
Dglucy |
A |
C |
12: 100,837,663 (GRCm39) |
H602P |
probably damaging |
Het |
Fbxo34 |
A |
G |
14: 47,767,146 (GRCm39) |
I220V |
probably benign |
Het |
Gm42878 |
A |
G |
5: 121,675,266 (GRCm39) |
V101A |
probably damaging |
Het |
Gsdmc4 |
A |
G |
15: 63,764,497 (GRCm39) |
L381P |
probably benign |
Het |
Ifi208 |
C |
A |
1: 173,510,406 (GRCm39) |
P187H |
probably damaging |
Het |
Lrrc37a |
A |
T |
11: 103,382,000 (GRCm39) |
C2473S |
unknown |
Het |
Miip |
T |
A |
4: 147,947,518 (GRCm39) |
N214I |
probably benign |
Het |
Mrc2 |
A |
G |
11: 105,227,533 (GRCm39) |
T589A |
possibly damaging |
Het |
Mtss1 |
A |
G |
15: 58,930,277 (GRCm39) |
|
probably benign |
Het |
Mypn |
T |
C |
10: 63,028,365 (GRCm39) |
R233G |
probably benign |
Het |
Naip6 |
A |
T |
13: 100,437,273 (GRCm39) |
C417S |
probably benign |
Het |
Or13f5 |
C |
T |
4: 52,826,027 (GRCm39) |
P210L |
probably damaging |
Het |
Or4c111 |
A |
C |
2: 88,844,021 (GRCm39) |
L129W |
probably damaging |
Het |
Or8k37 |
T |
A |
2: 86,469,599 (GRCm39) |
Y151F |
possibly damaging |
Het |
Pcsk1 |
T |
C |
13: 75,274,955 (GRCm39) |
Y515H |
probably damaging |
Het |
Pla2g2e |
T |
A |
4: 138,607,747 (GRCm39) |
Y42* |
probably null |
Het |
Polh |
A |
T |
17: 46,483,828 (GRCm39) |
L479Q |
possibly damaging |
Het |
Prr36 |
T |
A |
8: 4,265,278 (GRCm39) |
R157S |
possibly damaging |
Het |
Reck |
T |
A |
4: 43,891,014 (GRCm39) |
C51S |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,701,236 (GRCm39) |
D1911G |
probably damaging |
Het |
Scgb1b27 |
A |
T |
7: 33,721,173 (GRCm39) |
|
probably null |
Het |
Serinc1 |
A |
T |
10: 57,400,061 (GRCm39) |
Y158* |
probably null |
Het |
Slc15a2 |
C |
A |
16: 36,577,555 (GRCm39) |
G435C |
possibly damaging |
Het |
Tbc1d17 |
C |
A |
7: 44,498,296 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
C |
T |
7: 96,544,205 (GRCm39) |
Q2074* |
probably null |
Het |
Tns3 |
A |
G |
11: 8,469,564 (GRCm39) |
C244R |
probably damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,026,172 (GRCm39) |
|
probably benign |
Het |
Vmn2r44 |
T |
A |
7: 8,380,879 (GRCm39) |
Q338L |
possibly damaging |
Het |
Wdr70 |
C |
T |
15: 8,006,463 (GRCm39) |
D363N |
possibly damaging |
Het |
Yipf7 |
A |
T |
5: 69,698,434 (GRCm39) |
S24R |
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 |
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 |
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 |
|
Posted On |
2015-12-18 |