Incidental Mutation 'IGL01316:Ski'
ID |
73839 |
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 # |
IGL01316
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155238532-155306992 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 155306143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 279
(A279T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030917]
[ENSMUST00000084103]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030917
AA Change: A279T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030917 Gene: ENSMUSG00000029050 AA Change: A279T
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 damaging
Transcript: ENSMUST00000084103
AA Change: A227T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000081120 Gene: ENSMUSG00000029050 AA Change: A227T
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,935,404 (GRCm39) |
V326A |
probably damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,575,362 (GRCm39) |
D883G |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,331,784 (GRCm39) |
|
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,046,702 (GRCm39) |
V1796A |
probably benign |
Het |
Ccdc186 |
A |
C |
19: 56,801,845 (GRCm39) |
C91G |
probably benign |
Het |
Clec5a |
T |
C |
6: 40,559,196 (GRCm39) |
T63A |
probably benign |
Het |
Cyp3a11 |
T |
A |
5: 145,791,961 (GRCm39) |
K477N |
possibly damaging |
Het |
Dram2 |
T |
A |
3: 106,480,296 (GRCm39) |
V116E |
possibly damaging |
Het |
Dram2 |
T |
C |
3: 106,478,950 (GRCm39) |
Y181H |
probably benign |
Het |
Eps15l1 |
A |
T |
8: 73,143,258 (GRCm39) |
F184L |
possibly damaging |
Het |
Greb1 |
T |
A |
12: 16,748,587 (GRCm39) |
H1102L |
probably benign |
Het |
Inpp5f |
G |
A |
7: 128,292,430 (GRCm39) |
|
probably benign |
Het |
Kcng1 |
T |
C |
2: 168,110,960 (GRCm39) |
N68S |
probably damaging |
Het |
Klhl41 |
A |
G |
2: 69,505,068 (GRCm39) |
D457G |
probably benign |
Het |
Krt1c |
T |
C |
15: 101,719,646 (GRCm39) |
R675G |
probably benign |
Het |
Med13l |
T |
A |
5: 118,900,846 (GRCm39) |
V2200D |
probably damaging |
Het |
Mme |
T |
A |
3: 63,247,580 (GRCm39) |
|
probably benign |
Het |
Nexn |
A |
T |
3: 151,952,870 (GRCm39) |
F283L |
probably benign |
Het |
Noxa1 |
T |
C |
2: 24,976,023 (GRCm39) |
D389G |
probably benign |
Het |
Or2n1c |
A |
G |
17: 38,519,388 (GRCm39) |
N84S |
probably damaging |
Het |
Or7g21 |
A |
G |
9: 19,032,718 (GRCm39) |
I156V |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,420,500 (GRCm39) |
|
probably benign |
Het |
Pirt |
T |
C |
11: 66,816,772 (GRCm39) |
S28P |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,963,975 (GRCm39) |
|
probably null |
Het |
Sdk2 |
T |
C |
11: 113,758,791 (GRCm39) |
T478A |
probably benign |
Het |
Secisbp2 |
T |
C |
13: 51,808,552 (GRCm39) |
S106P |
probably benign |
Het |
Shroom1 |
C |
T |
11: 53,356,385 (GRCm39) |
A416V |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tab2 |
A |
G |
10: 7,800,468 (GRCm39) |
V28A |
probably damaging |
Het |
Tmem126a |
G |
A |
7: 90,101,927 (GRCm39) |
P91S |
probably damaging |
Het |
Ucma |
T |
C |
2: 4,986,042 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ski |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00919:Ski
|
APN |
4 |
155,306,799 (GRCm39) |
missense |
possibly damaging |
0.86 |
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 |
2013-10-07 |