Incidental Mutation 'R6554:Skic8'
| ID |
521859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skic8
|
| Ensembl Gene |
ENSMUSG00000061559 |
| Gene Name |
SKI8 subunit of superkiller complex |
| Synonyms |
Wdr61, 2700038L12Rik, 2810418I05Rik |
| MMRRC Submission |
044679-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R6554 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
54624437-54641833 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54634929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 88
(I88N)
|
| 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: I88N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056359
Gene: ENSMUSG00000061559
AA Change: I88N
| 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 damaging
Transcript: ENSMUST00000118771
AA Change: I88N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112811
Gene: ENSMUSG00000061559
AA Change: I88N
| 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: I88N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113560
Gene: ENSMUSG00000061559
AA Change: I88N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,618,246 (GRCm39) |
R180C |
probably damaging |
Het |
| B3galt9 |
C |
A |
2: 34,729,276 (GRCm39) |
S358R |
probably benign |
Het |
| Ces1b |
C |
A |
8: 93,791,619 (GRCm39) |
V327L |
probably benign |
Het |
| Cps1 |
C |
T |
1: 67,213,628 (GRCm39) |
R787* |
probably null |
Het |
| Dmrt2 |
C |
T |
19: 25,655,312 (GRCm39) |
P304S |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,557,346 (GRCm39) |
D429G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,616,282 (GRCm39) |
M3111K |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,037,699 (GRCm39) |
V3393A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,517,063 (GRCm39) |
D1007G |
possibly damaging |
Het |
| Flt3 |
A |
C |
5: 147,312,545 (GRCm39) |
L132W |
probably damaging |
Het |
| Gm14322 |
G |
A |
2: 177,410,220 (GRCm39) |
S60N |
possibly damaging |
Het |
| Katnip |
C |
T |
7: 125,449,914 (GRCm39) |
R993C |
probably damaging |
Het |
| Kcnj16 |
T |
A |
11: 110,916,131 (GRCm39) |
Y264* |
probably null |
Het |
| Klkb1 |
T |
A |
8: 45,726,591 (GRCm39) |
I471F |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,914 (GRCm39) |
T207A |
probably damaging |
Het |
| Mfsd4b5 |
T |
A |
10: 39,862,428 (GRCm39) |
T32S |
probably benign |
Het |
| Mtbp |
A |
G |
15: 55,430,645 (GRCm39) |
D234G |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,454,279 (GRCm39) |
T218A |
possibly damaging |
Het |
| Nsd3 |
A |
T |
8: 26,152,891 (GRCm39) |
E410D |
probably damaging |
Het |
| Or4g17 |
C |
T |
2: 111,209,504 (GRCm39) |
S53F |
possibly damaging |
Het |
| Or5aq7 |
A |
T |
2: 86,937,970 (GRCm39) |
S254T |
probably benign |
Het |
| Reln |
T |
C |
5: 22,101,838 (GRCm39) |
Y3364C |
probably damaging |
Het |
| Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,731,062 (GRCm39) |
H305Q |
probably benign |
Het |
| Skint8 |
G |
A |
4: 111,784,413 (GRCm39) |
C13Y |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,936,848 (GRCm39) |
V863I |
probably benign |
Het |
| Spdl1 |
T |
G |
11: 34,713,397 (GRCm39) |
N224T |
possibly damaging |
Het |
| Sprr1b |
T |
G |
3: 92,344,420 (GRCm39) |
Q152P |
possibly damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,405 (GRCm39) |
N192S |
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,445,903 (GRCm39) |
N96S |
probably damaging |
Het |
| Tbccd1 |
A |
T |
16: 22,640,874 (GRCm39) |
I501K |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Unk |
T |
C |
11: 115,942,285 (GRCm39) |
I293T |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,926,139 (GRCm39) |
E548G |
probably damaging |
Het |
| Wdr97 |
A |
G |
15: 76,239,178 (GRCm39) |
D85G |
possibly damaging |
Het |
| Zeb2 |
A |
T |
2: 44,887,524 (GRCm39) |
V496E |
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 |
|
|
ANU22:Skic8
|
UTSW |
9 |
54,635,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACCAAAGTGACATCTGGGTTG -3'
(R):5'- AGGTTTCTGCATTTCATTGACC -3'
Sequencing Primer
(F):5'- GAATTAGAGTGCCTGCAGTTCTGAAC -3'
(R):5'- CAAGGATGTAGAAGTTTTGATGCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation