Incidental Mutation 'ANU22:Skic8'
ID |
262587 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skic8
|
Ensembl Gene |
ENSMUSG00000061559 |
Gene Name |
SKI8 subunit of superkiller complex |
Synonyms |
Wdr61, 2700038L12Rik, 2810418I05Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
ANU22
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
54624437-54641833 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 54635470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 44
(V44L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051822]
[ENSMUST00000118771]
[ENSMUST00000121204]
[ENSMUST00000127451]
[ENSMUST00000130368]
|
AlphaFold |
Q9ERF3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051822
AA Change: V44L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000056359 Gene: ENSMUSG00000061559 AA Change: V44L
Domain | Start | End | E-Value | Type |
WD40
|
2 |
48 |
1.27e-1 |
SMART |
WD40
|
53 |
92 |
7.62e-5 |
SMART |
WD40
|
95 |
134 |
3.99e-1 |
SMART |
WD40
|
137 |
176 |
7.73e-6 |
SMART |
WD40
|
179 |
218 |
3.21e-12 |
SMART |
WD40
|
221 |
260 |
8.81e-10 |
SMART |
WD40
|
263 |
302 |
1.49e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118771
AA Change: V44L
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112811 Gene: ENSMUSG00000061559 AA Change: V44L
Domain | Start | End | E-Value | Type |
WD40
|
2 |
48 |
1.27e-1 |
SMART |
WD40
|
53 |
92 |
7.62e-5 |
SMART |
WD40
|
95 |
134 |
3.99e-1 |
SMART |
WD40
|
137 |
176 |
7.73e-6 |
SMART |
WD40
|
179 |
218 |
3.21e-12 |
SMART |
WD40
|
221 |
260 |
8.81e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121204
AA Change: V44L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113560 Gene: ENSMUSG00000061559 AA Change: V44L
Domain | Start | End | E-Value | Type |
WD40
|
2 |
48 |
1.27e-1 |
SMART |
WD40
|
53 |
92 |
7.62e-5 |
SMART |
WD40
|
95 |
134 |
3.99e-1 |
SMART |
WD40
|
137 |
176 |
7.73e-6 |
SMART |
WD40
|
179 |
218 |
3.21e-12 |
SMART |
WD40
|
221 |
260 |
8.81e-10 |
SMART |
WD40
|
263 |
302 |
1.49e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127451
|
SMART Domains |
Protein: ENSMUSP00000119362 Gene: ENSMUSG00000061559
Domain | Start | End | E-Value | Type |
WD40
|
5 |
36 |
5.3e1 |
SMART |
WD40
|
39 |
78 |
7.73e-6 |
SMART |
Pfam:WD40
|
82 |
107 |
2.8e-5 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130368
|
SMART Domains |
Protein: ENSMUSP00000123077 Gene: ENSMUSG00000061559
Domain | Start | End | E-Value | Type |
WD40
|
5 |
36 |
5.3e1 |
SMART |
WD40
|
39 |
78 |
7.73e-6 |
SMART |
WD40
|
81 |
120 |
3.21e-12 |
SMART |
WD40
|
123 |
162 |
8.81e-10 |
SMART |
WD40
|
165 |
204 |
1.49e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148494
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 98.1%
- 10x: 96.2%
- 20x: 92.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
A |
G |
15: 81,797,915 (GRCm39) |
E663G |
possibly damaging |
Het |
Adam29 |
T |
A |
8: 56,324,879 (GRCm39) |
H525L |
probably benign |
Het |
Adamts2 |
A |
G |
11: 50,628,190 (GRCm39) |
N297D |
probably benign |
Het |
Adamts6 |
T |
A |
13: 104,526,590 (GRCm39) |
V506E |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,655,617 (GRCm39) |
E1101K |
probably damaging |
Het |
Arap3 |
C |
T |
18: 38,124,380 (GRCm39) |
|
probably null |
Het |
Asxl3 |
T |
A |
18: 22,649,503 (GRCm39) |
H497Q |
probably benign |
Het |
Caln1 |
A |
G |
5: 130,698,392 (GRCm39) |
E96G |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,148,403 (GRCm39) |
T2653A |
probably damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,298,472 (GRCm39) |
I87F |
possibly damaging |
Het |
Crybg3 |
T |
A |
16: 59,349,590 (GRCm39) |
H934L |
probably damaging |
Het |
Cyp2d22 |
G |
A |
15: 82,255,869 (GRCm39) |
T461I |
probably damaging |
Het |
Dhcr24 |
T |
C |
4: 106,429,475 (GRCm39) |
F183L |
possibly damaging |
Het |
Dusp16 |
A |
T |
6: 134,695,824 (GRCm39) |
S336T |
probably benign |
Het |
F930017D23Rik |
T |
G |
10: 43,480,371 (GRCm39) |
|
noncoding transcript |
Het |
Fasl |
A |
G |
1: 161,609,407 (GRCm39) |
V193A |
probably damaging |
Het |
Fgf5 |
T |
C |
5: 98,423,175 (GRCm39) |
Y187H |
probably damaging |
Het |
Focad |
C |
A |
4: 88,311,784 (GRCm39) |
Q1423K |
probably benign |
Het |
Gabrp |
T |
C |
11: 33,505,055 (GRCm39) |
T249A |
probably damaging |
Het |
Galnt5 |
A |
T |
2: 57,915,354 (GRCm39) |
K637* |
probably null |
Het |
Grm6 |
A |
T |
11: 50,750,346 (GRCm39) |
D503V |
probably benign |
Het |
Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
Lyst |
C |
T |
13: 13,852,641 (GRCm39) |
R2214C |
probably benign |
Het |
Micu2 |
T |
A |
14: 58,181,082 (GRCm39) |
D184V |
probably damaging |
Het |
Nabp2 |
T |
A |
10: 128,244,631 (GRCm39) |
I52F |
probably damaging |
Het |
Nat8f7 |
A |
T |
6: 85,684,570 (GRCm39) |
L90* |
probably null |
Het |
Or2z2 |
A |
T |
11: 58,346,088 (GRCm39) |
M229K |
probably damaging |
Het |
Or4k47 |
T |
C |
2: 111,451,546 (GRCm39) |
N291S |
probably damaging |
Het |
Pphln1 |
A |
G |
15: 93,386,985 (GRCm39) |
E273G |
probably damaging |
Het |
Ppil1 |
C |
A |
17: 29,482,862 (GRCm39) |
V14F |
possibly damaging |
Het |
Ptprd |
C |
A |
4: 76,018,693 (GRCm39) |
D694Y |
probably damaging |
Het |
Relt |
A |
T |
7: 100,500,905 (GRCm39) |
L28Q |
probably damaging |
Het |
Sptbn4 |
G |
A |
7: 27,056,812 (GRCm39) |
R2525* |
probably null |
Het |
St8sia5 |
G |
A |
18: 77,342,358 (GRCm39) |
G320D |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,911,670 (GRCm39) |
E582G |
probably damaging |
Het |
Tas2r116 |
T |
A |
6: 132,832,406 (GRCm39) |
N2K |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tmem168 |
A |
T |
6: 13,583,045 (GRCm39) |
V612E |
probably damaging |
Het |
Unc79 |
A |
G |
12: 102,968,130 (GRCm39) |
S119G |
probably damaging |
Het |
Washc5 |
T |
A |
15: 59,227,688 (GRCm39) |
K425* |
probably null |
Het |
Wtap |
G |
T |
17: 13,186,782 (GRCm39) |
T255K |
probably benign |
Het |
Zfp148 |
T |
C |
16: 33,277,313 (GRCm39) |
V134A |
probably benign |
Het |
Zfp397 |
C |
T |
18: 24,093,808 (GRCm39) |
S431L |
probably damaging |
Het |
|
Other mutations in Skic8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01305:Skic8
|
APN |
9 |
54,635,470 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02481:Skic8
|
APN |
9 |
54,635,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02483:Skic8
|
APN |
9 |
54,635,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03138:Skic8
|
APN |
9 |
54,635,447 (GRCm39) |
splice site |
probably benign |
|
R0360:Skic8
|
UTSW |
9 |
54,634,862 (GRCm39) |
splice site |
probably benign |
|
R0528:Skic8
|
UTSW |
9 |
54,630,219 (GRCm39) |
splice site |
probably benign |
|
R3162:Skic8
|
UTSW |
9 |
54,631,473 (GRCm39) |
intron |
probably benign |
|
R4609:Skic8
|
UTSW |
9 |
54,635,463 (GRCm39) |
missense |
probably benign |
0.28 |
R6554:Skic8
|
UTSW |
9 |
54,634,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R7046:Skic8
|
UTSW |
9 |
54,626,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R8401:Skic8
|
UTSW |
9 |
54,635,539 (GRCm39) |
missense |
probably benign |
0.00 |
X0017:Skic8
|
UTSW |
9 |
54,626,563 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCATCACGCCTACAGTAGGGACAG -3'
(R):5'- TCCCACAAGTCCAGTGGTACAGTG -3'
Sequencing Primer
(F):5'- gagagagagggggagagag -3'
(R):5'- AGAGTTGTCAGCTTGTATTTCACC -3'
|
Posted On |
2015-02-04 |