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) question?
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

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: 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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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