Incidental Mutation 'R8867:Skic3'
ID |
676038 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skic3
|
Ensembl Gene |
ENSMUSG00000033991 |
Gene Name |
SKI3 subunit of superkiller complex |
Synonyms |
Ttc37 |
MMRRC Submission |
068682-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R8867 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
76246853-76338435 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76279428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 620
(S620L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091466]
[ENSMUST00000224386]
|
AlphaFold |
F8VPK0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091466
AA Change: S620L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089045 Gene: ENSMUSG00000033991 AA Change: S620L
Domain | Start | End | E-Value | Type |
TPR
|
6 |
39 |
2.92e1 |
SMART |
TPR
|
40 |
73 |
1.1e-1 |
SMART |
TPR
|
272 |
305 |
9.45e0 |
SMART |
TPR
|
306 |
339 |
8.9e-2 |
SMART |
SEL1
|
420 |
451 |
1.45e2 |
SMART |
TPR
|
420 |
453 |
2.55e-2 |
SMART |
SEL1
|
454 |
490 |
1.15e1 |
SMART |
TPR
|
454 |
492 |
2.84e1 |
SMART |
TPR
|
493 |
527 |
1.92e1 |
SMART |
TPR
|
564 |
597 |
7.34e-3 |
SMART |
TPR
|
598 |
631 |
1.81e-2 |
SMART |
TPR
|
632 |
665 |
2.43e1 |
SMART |
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
SEL1
|
861 |
892 |
3.58e1 |
SMART |
TPR
|
861 |
894 |
2.14e-4 |
SMART |
TPR
|
980 |
1013 |
1.56e1 |
SMART |
Blast:TPR
|
1051 |
1084 |
7e-11 |
BLAST |
Blast:TPR
|
1088 |
1121 |
7e-10 |
BLAST |
TPR
|
1399 |
1432 |
4.31e0 |
SMART |
low complexity region
|
1438 |
1450 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224386
AA Change: S620L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224790
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225220
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
99% (78/79) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
G |
A |
4: 73,861,087 (GRCm39) |
S171F |
probably damaging |
Het |
A130010J15Rik |
T |
C |
1: 192,857,406 (GRCm39) |
S253P |
probably damaging |
Het |
Acbd5 |
T |
C |
2: 22,970,370 (GRCm39) |
M97T |
possibly damaging |
Het |
Aire |
T |
C |
10: 77,873,809 (GRCm39) |
E300G |
probably damaging |
Het |
Ano1 |
A |
G |
7: 144,223,397 (GRCm39) |
S99P |
possibly damaging |
Het |
Ap5z1 |
A |
G |
5: 142,463,011 (GRCm39) |
N732D |
probably benign |
Het |
Apcs |
A |
T |
1: 172,722,004 (GRCm39) |
L114Q |
possibly damaging |
Het |
Apmap |
T |
C |
2: 150,431,886 (GRCm39) |
|
probably benign |
Het |
Ark2c |
T |
C |
18: 77,563,182 (GRCm39) |
E159G |
possibly damaging |
Het |
Asxl3 |
C |
A |
18: 22,649,547 (GRCm39) |
T512N |
possibly damaging |
Het |
Atp1a4 |
T |
C |
1: 172,072,491 (GRCm39) |
T388A |
probably damaging |
Het |
B3galt9 |
A |
G |
2: 34,728,636 (GRCm39) |
D145G |
probably damaging |
Het |
Bcl2a1a |
A |
T |
9: 88,839,503 (GRCm39) |
I134L |
probably damaging |
Het |
Chd6 |
G |
A |
2: 160,862,989 (GRCm39) |
A444V |
probably benign |
Het |
Cmbl |
C |
A |
15: 31,582,073 (GRCm39) |
H23Q |
probably benign |
Het |
Cnnm2 |
T |
A |
19: 46,750,996 (GRCm39) |
I262N |
probably damaging |
Het |
Col6a3 |
C |
T |
1: 90,715,673 (GRCm39) |
R2260H |
unknown |
Het |
Cracr2a |
T |
A |
6: 127,606,736 (GRCm39) |
L260* |
probably null |
Het |
Csmd2 |
A |
G |
4: 128,451,469 (GRCm39) |
Y3409C |
|
Het |
Cyp4b1 |
C |
T |
4: 115,493,169 (GRCm39) |
R225H |
possibly damaging |
Het |
Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
Dnah6 |
A |
G |
6: 72,998,131 (GRCm39) |
L4097P |
probably damaging |
Het |
Dppa3 |
G |
A |
6: 122,605,602 (GRCm39) |
R52Q |
probably benign |
Het |
Fbxo31 |
C |
T |
8: 122,281,967 (GRCm39) |
R311H |
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,656,885 (GRCm39) |
R90G |
probably damaging |
Het |
Fitm2 |
A |
T |
2: 163,311,602 (GRCm39) |
W204R |
possibly damaging |
Het |
Gatb |
T |
A |
3: 85,511,716 (GRCm39) |
L157H |
probably damaging |
Het |
Gm5111 |
G |
A |
6: 48,566,629 (GRCm39) |
|
probably null |
Het |
Gm7298 |
A |
C |
6: 121,748,788 (GRCm39) |
I688L |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,422,275 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
A |
6: 115,857,632 (GRCm39) |
V126E |
probably damaging |
Het |
Iqcf6 |
A |
T |
9: 106,504,698 (GRCm39) |
I121F |
possibly damaging |
Het |
Kif21a |
A |
G |
15: 90,852,382 (GRCm39) |
V902A |
probably damaging |
Het |
Klhl38 |
T |
C |
15: 58,178,435 (GRCm39) |
M512V |
probably benign |
Het |
Klk1b1 |
A |
C |
7: 43,619,747 (GRCm39) |
N102T |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,923,996 (GRCm39) |
L468Q |
probably damaging |
Het |
Lilra5 |
A |
T |
7: 4,241,165 (GRCm39) |
Q34L |
possibly damaging |
Het |
Lrrc7 |
T |
A |
3: 157,867,521 (GRCm39) |
D740V |
probably damaging |
Het |
Mapk7 |
G |
T |
11: 61,384,632 (GRCm39) |
P25T |
probably benign |
Het |
Mcm3ap |
C |
A |
10: 76,306,538 (GRCm39) |
A217D |
probably benign |
Het |
Mucl3 |
A |
T |
17: 35,948,872 (GRCm39) |
F242L |
probably benign |
Het |
Ncaph2 |
A |
G |
15: 89,254,605 (GRCm39) |
E406G |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,179,739 (GRCm39) |
I69V |
unknown |
Het |
Nfatc3 |
A |
G |
8: 106,805,640 (GRCm39) |
S170G |
probably damaging |
Het |
Nptn |
G |
A |
9: 58,526,264 (GRCm39) |
R137Q |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,430,570 (GRCm39) |
K1581N |
probably damaging |
Het |
Or1q1 |
T |
C |
2: 36,887,691 (GRCm39) |
Y290H |
probably damaging |
Het |
Or2t43 |
A |
G |
11: 58,457,562 (GRCm39) |
L203P |
probably damaging |
Het |
Or51l4 |
G |
A |
7: 103,403,893 (GRCm39) |
Q300* |
probably null |
Het |
Or52ab2 |
T |
A |
7: 102,970,449 (GRCm39) |
L277Q |
|
Het |
Or5be3 |
G |
T |
2: 86,863,803 (GRCm39) |
T254K |
probably damaging |
Het |
Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
Pdcl |
T |
C |
2: 37,242,348 (GRCm39) |
E134G |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,283,576 (GRCm39) |
Y738N |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,792,807 (GRCm39) |
D1498G |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,310,079 (GRCm39) |
N1029D |
probably benign |
Het |
Ppp3cb |
C |
A |
14: 20,596,517 (GRCm39) |
|
probably benign |
Het |
Prkn |
A |
G |
17: 11,456,448 (GRCm39) |
T91A |
probably benign |
Het |
Rgs18 |
T |
A |
1: 144,629,698 (GRCm39) |
D187V |
probably damaging |
Het |
Ripor2 |
C |
T |
13: 24,822,760 (GRCm39) |
|
probably benign |
Het |
Rpl3l |
G |
A |
17: 24,954,455 (GRCm39) |
G172D |
probably damaging |
Het |
Sdf4 |
A |
G |
4: 156,093,759 (GRCm39) |
T298A |
probably damaging |
Het |
Slc17a3 |
T |
C |
13: 24,039,943 (GRCm39) |
V327A |
|
Het |
Slc4a1ap |
T |
A |
5: 31,708,059 (GRCm39) |
F677L |
probably benign |
Het |
Stoml2 |
A |
G |
4: 43,028,256 (GRCm39) |
V324A |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,989,620 (GRCm39) |
Q1833R |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,534,371 (GRCm39) |
N481D |
possibly damaging |
Het |
Tert |
T |
C |
13: 73,776,566 (GRCm39) |
M439T |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,338,686 (GRCm39) |
D1181E |
|
Het |
Tln2 |
G |
A |
9: 67,237,832 (GRCm39) |
T33I |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,633,481 (GRCm39) |
S872P |
probably benign |
Het |
Trim10 |
T |
C |
17: 37,181,048 (GRCm39) |
L93P |
probably benign |
Het |
Trpc7 |
C |
T |
13: 57,008,746 (GRCm39) |
S307N |
probably benign |
Het |
Ttn |
A |
T |
2: 76,640,427 (GRCm39) |
V13727E |
probably damaging |
Het |
Vmn1r220 |
T |
C |
13: 23,368,271 (GRCm39) |
S142G |
probably benign |
Het |
Vmn1r32 |
A |
G |
6: 66,530,651 (GRCm39) |
S42P |
probably damaging |
Het |
Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
Zfp683 |
C |
T |
4: 133,785,995 (GRCm39) |
T374I |
probably damaging |
Het |
|
Other mutations in Skic3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00159:Skic3
|
APN |
13 |
76,291,397 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00650:Skic3
|
APN |
13 |
76,275,626 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL00838:Skic3
|
APN |
13 |
76,282,910 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00958:Skic3
|
APN |
13 |
76,270,864 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01011:Skic3
|
APN |
13 |
76,270,784 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01062:Skic3
|
APN |
13 |
76,303,581 (GRCm39) |
nonsense |
probably null |
|
IGL01319:Skic3
|
APN |
13 |
76,277,498 (GRCm39) |
missense |
probably benign |
0.29 |
IGL01697:Skic3
|
APN |
13 |
76,276,852 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02061:Skic3
|
APN |
13 |
76,277,660 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02184:Skic3
|
APN |
13 |
76,259,810 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02309:Skic3
|
APN |
13 |
76,275,166 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03230:Skic3
|
APN |
13 |
76,303,766 (GRCm39) |
splice site |
probably benign |
|
IGL03354:Skic3
|
APN |
13 |
76,330,941 (GRCm39) |
missense |
possibly damaging |
0.71 |
caviar
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
gourmet
|
UTSW |
13 |
76,298,638 (GRCm39) |
missense |
probably damaging |
1.00 |
tartare
|
UTSW |
13 |
76,333,298 (GRCm39) |
missense |
probably damaging |
0.96 |
R0501:Skic3
|
UTSW |
13 |
76,295,925 (GRCm39) |
missense |
probably benign |
|
R0628:Skic3
|
UTSW |
13 |
76,298,848 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0711:Skic3
|
UTSW |
13 |
76,331,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R0928:Skic3
|
UTSW |
13 |
76,261,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R1402:Skic3
|
UTSW |
13 |
76,279,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R1402:Skic3
|
UTSW |
13 |
76,279,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R1524:Skic3
|
UTSW |
13 |
76,286,491 (GRCm39) |
missense |
probably benign |
0.01 |
R1628:Skic3
|
UTSW |
13 |
76,259,910 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1702:Skic3
|
UTSW |
13 |
76,270,862 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1750:Skic3
|
UTSW |
13 |
76,288,720 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1822:Skic3
|
UTSW |
13 |
76,278,407 (GRCm39) |
missense |
probably benign |
0.35 |
R1885:Skic3
|
UTSW |
13 |
76,278,354 (GRCm39) |
missense |
probably benign |
0.11 |
R1885:Skic3
|
UTSW |
13 |
76,261,166 (GRCm39) |
missense |
probably benign |
0.00 |
R1923:Skic3
|
UTSW |
13 |
76,282,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R1978:Skic3
|
UTSW |
13 |
76,282,934 (GRCm39) |
missense |
probably benign |
0.00 |
R2040:Skic3
|
UTSW |
13 |
76,328,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Skic3
|
UTSW |
13 |
76,321,473 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2268:Skic3
|
UTSW |
13 |
76,260,393 (GRCm39) |
unclassified |
probably benign |
|
R2483:Skic3
|
UTSW |
13 |
76,330,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R2988:Skic3
|
UTSW |
13 |
76,303,808 (GRCm39) |
missense |
probably benign |
0.11 |
R3701:Skic3
|
UTSW |
13 |
76,261,798 (GRCm39) |
missense |
probably benign |
|
R3951:Skic3
|
UTSW |
13 |
76,278,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R4405:Skic3
|
UTSW |
13 |
76,303,784 (GRCm39) |
missense |
probably damaging |
0.97 |
R4411:Skic3
|
UTSW |
13 |
76,275,623 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4957:Skic3
|
UTSW |
13 |
76,333,232 (GRCm39) |
splice site |
probably null |
|
R4960:Skic3
|
UTSW |
13 |
76,333,275 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4993:Skic3
|
UTSW |
13 |
76,331,055 (GRCm39) |
missense |
probably damaging |
0.96 |
R5206:Skic3
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5208:Skic3
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5302:Skic3
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5305:Skic3
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5306:Skic3
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5579:Skic3
|
UTSW |
13 |
76,333,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R5618:Skic3
|
UTSW |
13 |
76,321,545 (GRCm39) |
missense |
probably benign |
|
R5726:Skic3
|
UTSW |
13 |
76,266,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Skic3
|
UTSW |
13 |
76,303,852 (GRCm39) |
missense |
probably benign |
0.05 |
R5899:Skic3
|
UTSW |
13 |
76,259,938 (GRCm39) |
splice site |
probably null |
|
R6146:Skic3
|
UTSW |
13 |
76,333,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R6224:Skic3
|
UTSW |
13 |
76,266,410 (GRCm39) |
missense |
probably benign |
0.02 |
R6286:Skic3
|
UTSW |
13 |
76,291,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R6402:Skic3
|
UTSW |
13 |
76,283,389 (GRCm39) |
missense |
probably benign |
0.05 |
R6561:Skic3
|
UTSW |
13 |
76,298,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R6808:Skic3
|
UTSW |
13 |
76,333,298 (GRCm39) |
missense |
probably damaging |
0.96 |
R7054:Skic3
|
UTSW |
13 |
76,283,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7261:Skic3
|
UTSW |
13 |
76,261,698 (GRCm39) |
missense |
probably benign |
0.30 |
R7267:Skic3
|
UTSW |
13 |
76,328,196 (GRCm39) |
missense |
probably benign |
0.15 |
R7348:Skic3
|
UTSW |
13 |
76,331,003 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7384:Skic3
|
UTSW |
13 |
76,298,854 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7404:Skic3
|
UTSW |
13 |
76,296,866 (GRCm39) |
nonsense |
probably null |
|
R7421:Skic3
|
UTSW |
13 |
76,296,944 (GRCm39) |
missense |
probably benign |
0.12 |
R7546:Skic3
|
UTSW |
13 |
76,282,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R7771:Skic3
|
UTSW |
13 |
76,283,149 (GRCm39) |
missense |
probably benign |
0.21 |
R7960:Skic3
|
UTSW |
13 |
76,260,318 (GRCm39) |
missense |
probably benign |
0.03 |
R8125:Skic3
|
UTSW |
13 |
76,278,446 (GRCm39) |
critical splice donor site |
probably null |
|
R8136:Skic3
|
UTSW |
13 |
76,261,222 (GRCm39) |
missense |
probably benign |
0.00 |
R8680:Skic3
|
UTSW |
13 |
76,303,587 (GRCm39) |
missense |
probably benign |
0.01 |
R8697:Skic3
|
UTSW |
13 |
76,328,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R8872:Skic3
|
UTSW |
13 |
76,333,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R8876:Skic3
|
UTSW |
13 |
76,323,403 (GRCm39) |
missense |
probably benign |
0.12 |
R8912:Skic3
|
UTSW |
13 |
76,305,361 (GRCm39) |
splice site |
probably benign |
|
R9174:Skic3
|
UTSW |
13 |
76,295,893 (GRCm39) |
missense |
probably benign |
0.00 |
R9334:Skic3
|
UTSW |
13 |
76,281,076 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9389:Skic3
|
UTSW |
13 |
76,275,158 (GRCm39) |
missense |
probably benign |
0.02 |
R9422:Skic3
|
UTSW |
13 |
76,278,447 (GRCm39) |
splice site |
probably benign |
|
R9443:Skic3
|
UTSW |
13 |
76,266,288 (GRCm39) |
missense |
probably benign |
0.01 |
R9545:Skic3
|
UTSW |
13 |
76,259,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R9596:Skic3
|
UTSW |
13 |
76,330,968 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0067:Skic3
|
UTSW |
13 |
76,281,052 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTGCAAATCAAGGGACGTATGG -3'
(R):5'- TGTTGAGGAAGCAAAACTTGAC -3'
Sequencing Primer
(F):5'- GGGACGTATGGATGATTTAATTGAAC -3'
(R):5'- ATAAGCAATTTGTTTCAGATACTTGC -3'
|
Posted On |
2021-07-15 |