Incidental Mutation 'R6412:Skic2'
| ID |
514640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skic2
|
| Ensembl Gene |
ENSMUSG00000040356 |
| Gene Name |
SKI2 subunit of superkiller complex |
| Synonyms |
4930534J06Rik, Ski2w, Skiv2l |
| MMRRC Submission |
044385-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35058202-35069180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35059276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1057
(V1057A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046022]
[ENSMUST00000046244]
[ENSMUST00000077477]
[ENSMUST00000159333]
[ENSMUST00000161885]
[ENSMUST00000173874]
[ENSMUST00000174092]
[ENSMUST00000173768]
[ENSMUST00000173063]
[ENSMUST00000172612]
[ENSMUST00000173415]
[ENSMUST00000173995]
[ENSMUST00000180043]
|
| AlphaFold |
Q6NZR5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046022
AA Change: V1057A
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356
AA Change: V1057A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
279 |
N/A |
INTRINSIC |
|
DEXDc
|
304 |
487 |
3.61e-28 |
SMART |
|
low complexity region
|
583 |
592 |
N/A |
INTRINSIC |
|
HELICc
|
619 |
705 |
8.63e-17 |
SMART |
|
Pfam:rRNA_proc-arch
|
760 |
1044 |
9.7e-39 |
PFAM |
|
DSHCT
|
1067 |
1243 |
7.67e-77 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046244
|
| SMART Domains |
Protein: ENSMUSP00000047018
Gene: ENSMUSG00000040482
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
168 |
184 |
N/A |
INTRINSIC |
|
Pfam:RAI1
|
235 |
303 |
2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077477
|
| SMART Domains |
Protein: ENSMUSP00000076686
Gene: ENSMUSG00000061207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Stk19
|
37 |
251 |
1e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159333
|
| SMART Domains |
Protein: ENSMUSP00000125311
Gene: ENSMUSG00000061207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Stk19
|
1 |
129 |
3.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172878
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173874
|
| SMART Domains |
Protein: ENSMUSP00000134332
Gene: ENSMUSG00000040482
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
168 |
184 |
N/A |
INTRINSIC |
|
Pfam:RAI1
|
235 |
303 |
4.2e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174092
|
| SMART Domains |
Protein: ENSMUSP00000133587
Gene: ENSMUSG00000040482
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI1
|
110 |
151 |
5.3e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173768
|
| SMART Domains |
Protein: ENSMUSP00000134052
Gene: ENSMUSG00000040482
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI1
|
1 |
33 |
5.6e-15 |
PFAM |
|
low complexity region
|
54 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172612
|
| SMART Domains |
Protein: ENSMUSP00000133376
Gene: ENSMUSG00000040482
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI1
|
5 |
73 |
1.6e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173415
|
| SMART Domains |
Protein: ENSMUSP00000134209
Gene: ENSMUSG00000040356
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4A4Z|A
|
10 |
81 |
8e-14 |
PDB |
|
Blast:DEXDc
|
19 |
76 |
2e-29 |
BLAST |
|
Blast:DEXDc
|
136 |
242 |
9e-28 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173995
|
| SMART Domains |
Protein: ENSMUSP00000134583
Gene: ENSMUSG00000040482
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3FQJ|A
|
1 |
144 |
5e-99 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174569
|
| SMART Domains |
Protein: ENSMUSP00000133448
Gene: ENSMUSG00000040482
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI1
|
15 |
65 |
1.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174684
|
| SMART Domains |
Protein: ENSMUSP00000134653
Gene: ENSMUSG00000040482
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3FQJ|A
|
2 |
48 |
1e-11 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180043
|
| SMART Domains |
Protein: ENSMUSP00000137234
Gene: ENSMUSG00000040482
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
168 |
184 |
N/A |
INTRINSIC |
|
Pfam:RAI1
|
235 |
302 |
2e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174887
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,807,116 (GRCm39) |
I480V |
probably benign |
Het |
| BC025920 |
T |
C |
10: 81,445,195 (GRCm39) |
V106A |
probably benign |
Het |
| Bhlhe23 |
A |
G |
2: 180,417,963 (GRCm39) |
F192L |
possibly damaging |
Het |
| Cftr |
C |
T |
6: 18,285,603 (GRCm39) |
T1137I |
probably damaging |
Het |
| Chst8 |
T |
C |
7: 34,375,504 (GRCm39) |
M112V |
probably benign |
Het |
| Cilk1 |
T |
C |
9: 78,047,258 (GRCm39) |
S53P |
probably damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,561,715 (GRCm39) |
M160L |
probably damaging |
Het |
| Gm3264 |
A |
G |
14: 16,058,238 (GRCm39) |
K81R |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,857,819 (GRCm39) |
N141S |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,929 (GRCm39) |
S425G |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,638 (GRCm39) |
E64G |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,255,455 (GRCm39) |
T196A |
probably benign |
Het |
| Luzp2 |
T |
C |
7: 54,707,794 (GRCm39) |
S61P |
probably damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,202 (GRCm39) |
A239D |
probably damaging |
Het |
| Or5l14 |
A |
T |
2: 87,792,693 (GRCm39) |
L181Q |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,865 (GRCm39) |
V759A |
probably damaging |
Het |
| Ret |
C |
T |
6: 118,161,245 (GRCm39) |
R77H |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sbno1 |
T |
C |
5: 124,530,777 (GRCm39) |
T840A |
probably damaging |
Het |
| Spocd1 |
C |
T |
4: 129,847,365 (GRCm39) |
S518L |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,897,339 (GRCm39) |
L723R |
probably damaging |
Het |
| Vmn1r223 |
G |
T |
13: 23,433,825 (GRCm39) |
V140F |
probably benign |
Het |
| Vmn2r52 |
A |
G |
7: 9,904,936 (GRCm39) |
V301A |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,656,279 (GRCm39) |
F2615L |
probably benign |
Het |
| Wdr81 |
G |
T |
11: 75,341,989 (GRCm39) |
P1093T |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,242,902 (GRCm39) |
E135G |
probably benign |
Het |
| Zfp990 |
C |
A |
4: 145,264,138 (GRCm39) |
P379T |
probably benign |
Het |
|
| Other mutations in Skic2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Skic2
|
APN |
17 |
35,058,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00338:Skic2
|
APN |
17 |
35,065,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01284:Skic2
|
APN |
17 |
35,058,664 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01308:Skic2
|
APN |
17 |
35,059,610 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01874:Skic2
|
APN |
17 |
35,060,185 (GRCm39) |
missense |
probably benign |
|
|
IGL02114:Skic2
|
APN |
17 |
35,060,092 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02208:Skic2
|
APN |
17 |
35,060,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02274:Skic2
|
APN |
17 |
35,064,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02729:Skic2
|
APN |
17 |
35,058,581 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02839:Skic2
|
APN |
17 |
35,066,774 (GRCm39) |
missense |
probably benign |
|
|
R0325:Skic2
|
UTSW |
17 |
35,063,791 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1102:Skic2
|
UTSW |
17 |
35,059,082 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1294:Skic2
|
UTSW |
17 |
35,060,040 (GRCm39) |
splice site |
probably null |
|
|
R1513:Skic2
|
UTSW |
17 |
35,066,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Skic2
|
UTSW |
17 |
35,067,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Skic2
|
UTSW |
17 |
35,066,782 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2401:Skic2
|
UTSW |
17 |
35,059,361 (GRCm39) |
missense |
probably benign |
|
|
R3162:Skic2
|
UTSW |
17 |
35,066,789 (GRCm39) |
nonsense |
probably null |
|
|
R3162:Skic2
|
UTSW |
17 |
35,066,789 (GRCm39) |
nonsense |
probably null |
|
|
R3695:Skic2
|
UTSW |
17 |
35,066,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3700:Skic2
|
UTSW |
17 |
35,068,879 (GRCm39) |
missense |
probably benign |
|
|
R4654:Skic2
|
UTSW |
17 |
35,068,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Skic2
|
UTSW |
17 |
35,067,173 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4835:Skic2
|
UTSW |
17 |
35,061,897 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5014:Skic2
|
UTSW |
17 |
35,066,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5181:Skic2
|
UTSW |
17 |
35,063,802 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5223:Skic2
|
UTSW |
17 |
35,064,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5417:Skic2
|
UTSW |
17 |
35,065,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5623:Skic2
|
UTSW |
17 |
35,066,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5878:Skic2
|
UTSW |
17 |
35,065,093 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5979:Skic2
|
UTSW |
17 |
35,060,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6501:Skic2
|
UTSW |
17 |
35,063,412 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6532:Skic2
|
UTSW |
17 |
35,063,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Skic2
|
UTSW |
17 |
35,064,166 (GRCm39) |
nonsense |
probably null |
|
|
R6732:Skic2
|
UTSW |
17 |
35,064,166 (GRCm39) |
nonsense |
probably null |
|
|
R6741:Skic2
|
UTSW |
17 |
35,064,166 (GRCm39) |
nonsense |
probably null |
|
|
R6742:Skic2
|
UTSW |
17 |
35,064,166 (GRCm39) |
nonsense |
probably null |
|
|
R6769:Skic2
|
UTSW |
17 |
35,064,166 (GRCm39) |
nonsense |
probably null |
|
|
R6771:Skic2
|
UTSW |
17 |
35,064,166 (GRCm39) |
nonsense |
probably null |
|
|
R7022:Skic2
|
UTSW |
17 |
35,064,183 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7096:Skic2
|
UTSW |
17 |
35,060,446 (GRCm39) |
missense |
probably benign |
|
|
R7178:Skic2
|
UTSW |
17 |
35,058,440 (GRCm39) |
missense |
probably benign |
|
|
R7315:Skic2
|
UTSW |
17 |
35,060,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7584:Skic2
|
UTSW |
17 |
35,060,651 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7677:Skic2
|
UTSW |
17 |
35,067,140 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7796:Skic2
|
UTSW |
17 |
35,063,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Skic2
|
UTSW |
17 |
35,068,975 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8407:Skic2
|
UTSW |
17 |
35,060,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8991:Skic2
|
UTSW |
17 |
35,059,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Skic2
|
UTSW |
17 |
35,063,640 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9021:Skic2
|
UTSW |
17 |
35,065,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9196:Skic2
|
UTSW |
17 |
35,068,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9243:Skic2
|
UTSW |
17 |
35,064,198 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9322:Skic2
|
UTSW |
17 |
35,066,439 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9475:Skic2
|
UTSW |
17 |
35,060,078 (GRCm39) |
missense |
probably benign |
|
|
R9564:Skic2
|
UTSW |
17 |
35,063,758 (GRCm39) |
missense |
probably benign |
|
|
R9565:Skic2
|
UTSW |
17 |
35,063,758 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Skic2
|
UTSW |
17 |
35,060,522 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGAGGAGCAGCTCATG -3'
(R):5'- TGCAACTCAAGGATGTGGCAG -3'
Sequencing Primer
(F):5'- TCATGGCTGCTCATGGC -3'
(R):5'- AGGTAGCTCCTAGGCAGAGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation