Incidental Mutation 'IGL00919:Ski'
ID |
27237 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ski
|
Ensembl Gene |
ENSMUSG00000029050 |
Gene Name |
ski sarcoma viral oncogene homolog (avian) |
Synonyms |
2310012I02Rik, 2610001A11Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00919
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155238532-155306992 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 155306799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 60
(V60E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030917]
[ENSMUST00000084103]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030917
AA Change: V60E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000030917 Gene: ENSMUSG00000029050 AA Change: V60E
Domain | Start | End | E-Value | Type |
Pfam:Ski_Sno
|
84 |
191 |
3.2e-49 |
PFAM |
c-SKI_SMAD_bind
|
217 |
312 |
2.5e-61 |
SMART |
low complexity region
|
470 |
508 |
N/A |
INTRINSIC |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
555 |
707 |
3e-16 |
SMART |
low complexity region
|
709 |
714 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084103
|
SMART Domains |
Protein: ENSMUSP00000081120 Gene: ENSMUSG00000029050
Domain | Start | End | E-Value | Type |
Pfam:Ski_Sno
|
29 |
140 |
8.3e-43 |
PFAM |
c-SKI_SMAD_bind
|
165 |
260 |
2.5e-61 |
SMART |
low complexity region
|
418 |
456 |
N/A |
INTRINSIC |
low complexity region
|
466 |
482 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
503 |
655 |
1e-14 |
SMART |
low complexity region
|
657 |
662 |
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.] This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009] PHENOTYPE: Homozygous null embryos die during late gestation and exhibit neural tube defects, craniofacial anomalies, and reduced skeletal muscle mass. Haploinsufficient mice have an increased susceptibility to tumorigenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef1 |
A |
G |
1: 10,243,462 (GRCm39) |
V1029A |
probably damaging |
Het |
Arhgap9 |
T |
C |
10: 127,163,762 (GRCm39) |
|
probably benign |
Het |
Ccdc63 |
T |
C |
5: 122,262,982 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
Ctps1 |
A |
G |
4: 120,424,545 (GRCm39) |
V23A |
probably benign |
Het |
Ehd4 |
T |
C |
2: 119,927,535 (GRCm39) |
E333G |
possibly damaging |
Het |
Espl1 |
T |
C |
15: 102,207,064 (GRCm39) |
V176A |
probably benign |
Het |
Fbxo41 |
A |
G |
6: 85,455,552 (GRCm39) |
I544T |
probably damaging |
Het |
Fut9 |
A |
G |
4: 25,620,316 (GRCm39) |
V166A |
possibly damaging |
Het |
Kirrel3 |
A |
G |
9: 34,926,549 (GRCm39) |
|
probably null |
Het |
Nell2 |
T |
A |
15: 95,281,608 (GRCm39) |
D366V |
possibly damaging |
Het |
Neurod4 |
A |
T |
10: 130,106,683 (GRCm39) |
I197N |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,093,481 (GRCm39) |
Y61* |
probably null |
Het |
Or4c121 |
T |
G |
2: 89,023,848 (GRCm39) |
M177L |
probably benign |
Het |
Pcdh1 |
T |
A |
18: 38,335,865 (GRCm39) |
K118* |
probably null |
Het |
Phf12 |
T |
A |
11: 77,874,166 (GRCm39) |
I10N |
probably damaging |
Het |
Ptprc |
A |
T |
1: 138,041,380 (GRCm39) |
C250S |
probably damaging |
Het |
Rtl8c |
A |
G |
X: 52,610,187 (GRCm39) |
T59A |
possibly damaging |
Het |
Serpine1 |
A |
G |
5: 137,092,376 (GRCm39) |
I377T |
probably benign |
Het |
Shank2 |
A |
T |
7: 143,965,008 (GRCm39) |
D865V |
probably damaging |
Het |
St7l |
T |
A |
3: 104,833,782 (GRCm39) |
L481H |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,998,662 (GRCm39) |
I375T |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,041,086 (GRCm39) |
D266G |
probably damaging |
Het |
|
Other mutations in Ski |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01316:Ski
|
APN |
4 |
155,306,143 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02423:Ski
|
APN |
4 |
155,244,191 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03378:Ski
|
APN |
4 |
155,245,329 (GRCm39) |
missense |
probably benign |
|
R0518:Ski
|
UTSW |
4 |
155,243,743 (GRCm39) |
critical splice donor site |
probably null |
|
R1611:Ski
|
UTSW |
4 |
155,244,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R1865:Ski
|
UTSW |
4 |
155,306,698 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1986:Ski
|
UTSW |
4 |
155,306,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R2040:Ski
|
UTSW |
4 |
155,306,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R2419:Ski
|
UTSW |
4 |
155,245,350 (GRCm39) |
missense |
probably benign |
|
R5113:Ski
|
UTSW |
4 |
155,243,849 (GRCm39) |
missense |
probably benign |
0.13 |
R6236:Ski
|
UTSW |
4 |
155,244,001 (GRCm39) |
missense |
probably benign |
0.37 |
R6783:Ski
|
UTSW |
4 |
155,245,289 (GRCm39) |
critical splice donor site |
probably null |
|
R8515:Ski
|
UTSW |
4 |
155,245,083 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8708:Ski
|
UTSW |
4 |
155,245,119 (GRCm39) |
missense |
probably damaging |
0.98 |
R8836:Ski
|
UTSW |
4 |
155,245,047 (GRCm39) |
missense |
probably benign |
0.31 |
R8886:Ski
|
UTSW |
4 |
155,244,016 (GRCm39) |
missense |
probably null |
0.93 |
R8976:Ski
|
UTSW |
4 |
155,242,411 (GRCm39) |
missense |
probably damaging |
0.99 |
R9005:Ski
|
UTSW |
4 |
155,306,317 (GRCm39) |
missense |
probably damaging |
0.98 |
R9762:Ski
|
UTSW |
4 |
155,244,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-04-17 |