Incidental Mutation 'R7546:Skic3'
ID 584230
Institutional Source Beutler Lab
Gene Symbol Skic3
Ensembl Gene ENSMUSG00000033991
Gene Name SKI3 subunit of superkiller complex
Synonyms Ttc37
MMRRC Submission 045617-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R7546 (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 A at 76282954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 759 (L759M)
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: L759M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: L759M

DomainStartEndE-ValueType
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: L759M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000225220
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (40/40)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik A G 17: 48,348,330 (GRCm39) S36P probably benign Het
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Ampd1 A G 3: 103,003,028 (GRCm39) T582A probably benign Het
Ank1 A C 8: 23,555,011 (GRCm39) N57T probably damaging Het
Atxn3 A G 12: 101,914,261 (GRCm39) probably null Het
Bace2 G A 16: 97,200,882 (GRCm39) A117T probably benign Het
Bcl2l15 A G 3: 103,740,203 (GRCm39) N19S probably benign Het
Bid C A 6: 120,877,112 (GRCm39) probably null Het
Cadps2 A T 6: 23,626,607 (GRCm39) M227K probably benign Het
Clip4 G A 17: 72,135,697 (GRCm39) C483Y possibly damaging Het
Dennd4a A G 9: 64,780,326 (GRCm39) T621A probably damaging Het
E2f3 G A 13: 30,094,112 (GRCm39) S383L probably damaging Het
F2r C T 13: 95,754,858 (GRCm39) V9I probably benign Het
Gm14226 T C 2: 154,867,131 (GRCm39) S363P probably damaging Het
Gstm5 T C 3: 107,804,610 (GRCm39) Y65H probably damaging Het
H2bc13 A G 13: 21,900,040 (GRCm39) S92P probably benign Het
H60c A G 10: 3,209,907 (GRCm39) W127R probably damaging Het
Itgav G T 2: 83,606,894 (GRCm39) G448* probably null Het
Klrh1 T C 6: 129,749,343 (GRCm39) H84R probably benign Het
Lhx6 C T 2: 35,993,357 (GRCm39) probably null Het
Manba T A 3: 135,276,007 (GRCm39) V816D probably benign Het
Marchf10 G A 11: 105,280,906 (GRCm39) P460S not run Het
Mmp17 T A 5: 129,673,653 (GRCm39) V244E probably damaging Het
Mtrr C T 13: 68,730,268 (GRCm39) probably benign Het
Nup160 T C 2: 90,515,402 (GRCm39) I170T probably damaging Het
Or4c12b A G 2: 89,647,363 (GRCm39) N225S probably benign Het
Or4c12b A T 2: 89,647,538 (GRCm39) L283F probably damaging Het
Or51e1 T C 7: 102,358,996 (GRCm39) S177P probably damaging Het
Pappa G A 4: 65,074,352 (GRCm39) S302N possibly damaging Het
Plekhj1 G A 10: 80,633,748 (GRCm39) A53V possibly damaging Het
Pramel46 T A 5: 95,418,171 (GRCm39) H275L possibly damaging Het
Pramel48 C T 5: 95,630,539 (GRCm39) R139C probably benign Het
Prpf8 T C 11: 75,399,200 (GRCm39) V2157A probably damaging Het
Rps8 G A 4: 117,011,104 (GRCm39) R200W probably damaging Het
Sesn2 A G 4: 132,227,154 (GRCm39) F93L probably damaging Het
Slf1 A G 13: 77,197,311 (GRCm39) S768P probably benign Het
Stat4 A G 1: 52,137,622 (GRCm39) N471S probably damaging Het
Trcg1 T C 9: 57,155,621 (GRCm39) L758P probably benign Het
Trim35 A G 14: 66,540,696 (GRCm39) T183A probably benign Het
Ttr C A 18: 20,803,102 (GRCm39) Y89* probably null Het
Zfp90 C A 8: 107,151,323 (GRCm39) H345Q probably benign Het
Zmym4 A G 4: 126,757,961 (GRCm39) V1531A probably damaging Het
Other mutations in Skic3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AAAGCCTTTGTTTATCTGGCAG -3'
(R):5'- CATGCTGCTGCCTGTTTCAG -3'

Sequencing Primer
(F):5'- CAGGGCCCTGCAGCATC -3'
(R):5'- CAGCTAGATGTTGTACTTGACGG -3'
Posted On 2019-10-17