Incidental Mutation 'R5726:Skic3'
| ID |
452515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skic3
|
| Ensembl Gene |
ENSMUSG00000033991 |
| Gene Name |
SKI3 subunit of superkiller complex |
| Synonyms |
Ttc37 |
| MMRRC Submission |
043344-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R5726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
76246853-76338435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76266466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 238
(Y238H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091466]
[ENSMUST00000224386]
|
| AlphaFold |
F8VPK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091466
AA Change: Y238H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: Y238H
| 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: Y238H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224790
AA Change: Y104H
|
| Meta Mutation Damage Score |
0.3370 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (72/72) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
T |
C |
7: 127,835,832 (GRCm39) |
K254E |
probably damaging |
Het |
| Aak1 |
C |
T |
6: 86,902,106 (GRCm39) |
Q92* |
probably null |
Het |
| Acss3 |
T |
C |
10: 106,959,183 (GRCm39) |
T88A |
possibly damaging |
Het |
| Adcy4 |
A |
T |
14: 56,021,118 (GRCm39) |
S6R |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,348,170 (GRCm39) |
E311G |
possibly damaging |
Het |
| Arhgap25 |
C |
T |
6: 87,440,441 (GRCm39) |
S402N |
probably benign |
Het |
| Btn1a1 |
T |
A |
13: 23,643,522 (GRCm39) |
D309V |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,243,259 (GRCm39) |
V1037M |
probably damaging |
Het |
| Clcn2 |
T |
C |
16: 20,529,285 (GRCm39) |
|
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,174,673 (GRCm39) |
T276A |
probably null |
Het |
| CN725425 |
A |
G |
15: 91,144,706 (GRCm39) |
E523G |
possibly damaging |
Het |
| Crppa |
T |
C |
12: 36,597,829 (GRCm39) |
V320A |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,793,188 (GRCm39) |
T308S |
probably damaging |
Het |
| Dgkh |
G |
T |
14: 78,862,342 (GRCm39) |
F208L |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,273,613 (GRCm39) |
D846G |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,635,828 (GRCm39) |
|
probably null |
Het |
| Foxp4 |
A |
G |
17: 48,180,033 (GRCm39) |
Y623H |
unknown |
Het |
| Fxr2 |
T |
C |
11: 69,524,172 (GRCm39) |
V10A |
probably benign |
Het |
| Gm10271 |
T |
C |
10: 116,792,792 (GRCm39) |
|
probably null |
Het |
| Gsk3b |
T |
C |
16: 38,028,498 (GRCm39) |
|
probably benign |
Het |
| Ift43 |
T |
A |
12: 86,208,957 (GRCm39) |
D169E |
probably damaging |
Het |
| Ift57 |
T |
A |
16: 49,519,861 (GRCm39) |
L54H |
probably damaging |
Het |
| Ighv1-37 |
T |
C |
12: 114,860,294 (GRCm39) |
|
probably benign |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,339,491 (GRCm39) |
D1140G |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,135,546 (GRCm39) |
A1883T |
probably damaging |
Het |
| Map4k2 |
G |
T |
19: 6,401,362 (GRCm39) |
G611C |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,359,692 (GRCm39) |
|
probably benign |
Het |
| Myh14 |
A |
G |
7: 44,292,886 (GRCm39) |
|
probably null |
Het |
| Myh8 |
T |
A |
11: 67,185,392 (GRCm39) |
V881D |
possibly damaging |
Het |
| Myo1g |
G |
T |
11: 6,459,420 (GRCm39) |
Q817K |
probably benign |
Het |
| Nin |
A |
C |
12: 70,124,953 (GRCm39) |
V123G |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,548,195 (GRCm39) |
D976G |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,036,514 (GRCm39) |
|
probably null |
Het |
| Or5an1c |
A |
G |
19: 12,218,644 (GRCm39) |
I127T |
probably damaging |
Het |
| Phf14 |
T |
C |
6: 11,933,537 (GRCm39) |
|
probably benign |
Het |
| Podxl2 |
T |
C |
6: 88,825,721 (GRCm39) |
D400G |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,237,916 (GRCm39) |
W707* |
probably null |
Het |
| Rnf19b |
T |
C |
4: 128,965,685 (GRCm39) |
V261A |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,307,284 (GRCm39) |
Y648C |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,362,913 (GRCm39) |
R569H |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,742,626 (GRCm39) |
L761P |
probably damaging |
Het |
| Shroom3 |
C |
T |
5: 93,090,864 (GRCm39) |
P1124S |
probably benign |
Het |
| Sirt4 |
A |
G |
5: 115,617,705 (GRCm39) |
V317A |
probably benign |
Het |
| Slc12a2 |
G |
T |
18: 58,029,426 (GRCm39) |
A271S |
probably benign |
Het |
| Slc6a9 |
A |
G |
4: 117,721,210 (GRCm39) |
Y208C |
probably damaging |
Het |
| Snap23 |
T |
A |
2: 120,414,752 (GRCm39) |
|
probably benign |
Het |
| Sra1 |
C |
T |
18: 36,803,226 (GRCm39) |
|
probably benign |
Het |
| Srbd1 |
C |
T |
17: 86,428,157 (GRCm39) |
D359N |
possibly damaging |
Het |
| Srp19 |
A |
G |
18: 34,464,826 (GRCm39) |
Y22C |
probably damaging |
Het |
| Sstr4 |
T |
C |
2: 148,238,003 (GRCm39) |
S205P |
probably damaging |
Het |
| Sv2b |
T |
C |
7: 74,773,962 (GRCm39) |
D503G |
possibly damaging |
Het |
| Tbc1d30 |
C |
T |
10: 121,103,479 (GRCm39) |
V518M |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,758,652 (GRCm39) |
K482E |
probably benign |
Het |
| Tpm1 |
G |
A |
9: 66,930,694 (GRCm39) |
L310F |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,830,981 (GRCm39) |
Y1282C |
probably damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,742,757 (GRCm39) |
L65* |
probably null |
Het |
| Ttc39c |
C |
A |
18: 12,830,992 (GRCm39) |
A284D |
probably damaging |
Het |
| Txndc16 |
G |
A |
14: 45,403,221 (GRCm39) |
H297Y |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,545,550 (GRCm39) |
D1698E |
probably benign |
Het |
| Vmn1r232 |
C |
T |
17: 21,133,601 (GRCm39) |
R333H |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,365,486 (GRCm39) |
D529E |
possibly damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,208,315 (GRCm39) |
V721I |
probably damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,276,119 (GRCm39) |
H484R |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,568,269 (GRCm39) |
S1187R |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,468,381 (GRCm39) |
D2846E |
probably benign |
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 |
|
|
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 |
|
R8867:Skic3
|
UTSW |
13 |
76,279,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AGCAGATAACATTCCCAGTGAAG -3'
(R):5'- GCACTACCTGTCAGATCTCC -3'
Sequencing Primer
(F):5'- GTGAAGATCACCAAGTACTTTACAGG -3'
(R):5'- CAGATCTCCTCTATCTAATGTCAGAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation