Incidental Mutation 'R1885:Skic3'
ID 209478
Institutional Source Beutler Lab
Gene Symbol Skic3
Ensembl Gene ENSMUSG00000033991
Gene Name SKI3 subunit of superkiller complex
Synonyms Ttc37
MMRRC Submission 039906-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R1885 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 76246853-76338435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76261166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 112 (R112S)
Ref Sequence ENSEMBL: ENSMUSP00000153521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091466] [ENSMUST00000224386]
AlphaFold F8VPK0
Predicted Effect probably benign
Transcript: ENSMUST00000091466
AA Change: R112S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: R112S

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 benign
Transcript: ENSMUST00000224386
AA Change: R112S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000224790
Coding Region Coverage
  • 1x: 97.0%
  • 3x: 96.1%
  • 10x: 92.7%
  • 20x: 85.1%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
Aarsd1 T C 11: 101,302,227 (GRCm39) T278A probably benign Het
Acox2 C T 14: 8,248,102 (GRCm38) M393I probably benign Het
Adcy10 A G 1: 165,398,377 (GRCm39) I1491M probably benign Het
Adcy3 T A 12: 4,184,951 (GRCm39) V209E probably damaging Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Ap2b1 T A 11: 83,281,561 (GRCm39) N822K probably damaging Het
Apobec3 A T 15: 79,781,906 (GRCm39) H82L probably damaging Het
Atg9b A T 5: 24,593,252 (GRCm39) W384R probably damaging Het
Atp8a1 A G 5: 67,904,661 (GRCm39) V506A possibly damaging Het
Atxn1 G T 13: 45,721,280 (GRCm39) A205D probably benign Het
B4galnt3 T C 6: 120,200,601 (GRCm39) E223G probably damaging Het
Brip1 C A 11: 86,029,641 (GRCm39) G631V probably damaging Het
Cacna1i A G 15: 80,243,145 (GRCm39) E434G probably damaging Het
Caprin2 A T 6: 148,779,383 (GRCm39) probably null Het
Cblif G A 19: 11,729,688 (GRCm39) A216T probably benign Het
Ccdc80 A C 16: 44,917,083 (GRCm39) D613A probably benign Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Cebpz A T 17: 79,239,545 (GRCm39) D625E probably benign Het
Coq6 C A 12: 84,419,238 (GRCm39) N388K probably damaging Het
Cracd A G 5: 77,004,589 (GRCm39) T317A unknown Het
D430041D05Rik T C 2: 104,060,800 (GRCm39) M1365V probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dap3 A G 3: 88,838,281 (GRCm39) L86P probably damaging Het
Dpysl4 T G 7: 138,676,723 (GRCm39) V391G probably damaging Het
Dyrk4 G T 6: 126,854,144 (GRCm39) Q550K probably benign Het
Epas1 A G 17: 87,112,723 (GRCm39) D107G probably damaging Het
Esrp2 A G 8: 106,858,453 (GRCm39) V636A possibly damaging Het
Etl4 T A 2: 20,748,795 (GRCm39) Y176N probably damaging Het
Etnppl T C 3: 130,423,111 (GRCm39) V264A probably benign Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fer T A 17: 64,445,909 (GRCm39) V790D probably damaging Het
Gdpd5 G A 7: 99,109,204 (GRCm39) V575I probably benign Het
Gfus G T 15: 75,798,838 (GRCm39) T123N possibly damaging Het
Gipc3 T C 10: 81,177,181 (GRCm39) I130V probably benign Het
Iqsec3 G A 6: 121,405,326 (GRCm39) probably benign Het
Kdm5d G T Y: 940,781 (GRCm39) probably null Het
Kl A G 5: 150,876,959 (GRCm39) R260G possibly damaging Het
Kras T C 6: 145,177,843 (GRCm39) E143G probably damaging Het
Ksr1 T C 11: 78,927,347 (GRCm39) T329A probably damaging Het
Ksr1 C A 11: 78,911,204 (GRCm39) V11F probably null Het
Marchf6 A G 15: 31,502,952 (GRCm39) V83A probably benign Het
Mettl2 T C 11: 105,022,446 (GRCm39) I212T possibly damaging Het
Mgat3 A G 15: 80,095,820 (GRCm39) I216V probably benign Het
Mkrn3 G A 7: 62,068,486 (GRCm39) A435V probably benign Het
Mlh1 C A 9: 111,087,624 (GRCm39) S24I probably benign Het
Mmel1 G A 4: 154,975,333 (GRCm39) R424Q possibly damaging Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Myh3 A G 11: 66,977,453 (GRCm39) K368E probably benign Het
Myo16 T A 8: 10,372,656 (GRCm39) N118K probably damaging Het
Myo5c A G 9: 75,157,043 (GRCm39) S160G probably damaging Het
Nat1 A T 8: 67,943,653 (GRCm39) I13F probably damaging Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nwd1 T C 8: 73,431,622 (GRCm39) S1207P probably benign Het
Or2y17 T C 11: 49,231,662 (GRCm39) L101P probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or5w22 T C 2: 87,363,168 (GRCm39) S264P probably damaging Het
Paqr8 A T 1: 21,005,704 (GRCm39) H286L probably damaging Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pes1 A G 11: 3,919,482 (GRCm39) K52E probably damaging Het
Ppp1r13l T C 7: 19,111,496 (GRCm39) S774P probably damaging Het
Robo2 T C 16: 73,713,033 (GRCm39) D1283G probably benign Het
Rp1l1 T C 14: 64,265,839 (GRCm39) V475A probably benign Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Slc2a4 C T 11: 69,835,833 (GRCm39) V339I probably benign Het
Slc39a6 G A 18: 24,734,539 (GRCm39) probably null Het
Slco1b2 A T 6: 141,628,951 (GRCm39) Y551F probably damaging Het
Snx33 T C 9: 56,833,121 (GRCm39) H316R probably benign Het
Spata31d1a T G 13: 59,849,821 (GRCm39) D769A probably damaging Het
Stmn2 A T 3: 8,606,964 (GRCm39) E28V probably damaging Het
Syt9 A G 7: 107,035,736 (GRCm39) D251G probably damaging Het
Tjap1 T C 17: 46,573,347 (GRCm39) T37A probably damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Tprg1 A G 16: 25,231,641 (GRCm39) T206A probably benign Het
Ubqlnl A T 7: 103,799,272 (GRCm39) M75K possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmn2r12 C T 5: 109,239,942 (GRCm39) G207E probably damaging Het
Xrn2 T G 2: 146,891,281 (GRCm39) L697* probably null Het
Zfp764 A G 7: 127,004,211 (GRCm39) F307L probably benign Het
Zfp804b T C 5: 6,820,376 (GRCm39) R860G probably damaging Het
Zranb2 A T 3: 157,248,793 (GRCm39) probably null 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
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
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'- CATTTCTTCCAGAAGTTTGTCACAG -3'
(R):5'- GCTCCACAAGTACACTTCTTAGG -3'

Sequencing Primer
(F):5'- TTGTGGTTGAAATAGACTGAAAAGAC -3'
(R):5'- CACTTCTTAGGAAACTTAAGCTAGTG -3'
Posted On 2014-06-30