Incidental Mutation 'R7261:Skic3'
ID 564651
Institutional Source Beutler Lab
Gene Symbol Skic3
Ensembl Gene ENSMUSG00000033991
Gene Name SKI3 subunit of superkiller complex
Synonyms Ttc37
MMRRC Submission 045387-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R7261 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 76246853-76338435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76261698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 138 (T138A)
Ref Sequence ENSEMBL: ENSMUSP00000089045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091466] [ENSMUST00000224386]
AlphaFold F8VPK0
Predicted Effect probably benign
Transcript: ENSMUST00000091466
AA Change: T138A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: T138A

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: T138A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (84/85)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,259,526 (GRCm39) F1954L probably damaging Het
Acmsd T G 1: 127,687,561 (GRCm39) I281R probably damaging Het
Adamts2 A T 11: 50,677,424 (GRCm39) M742L possibly damaging Het
Adgrf4 G A 17: 42,978,326 (GRCm39) T339I probably benign Het
Aff1 T C 5: 103,976,245 (GRCm39) S448P probably damaging Het
Agbl2 A T 2: 90,619,288 (GRCm39) S38C possibly damaging Het
Akap7 C T 10: 25,147,416 (GRCm39) D105N possibly damaging Het
Arhgap21 A G 2: 20,885,177 (GRCm39) F677L probably benign Het
Atf6b G T 17: 34,869,792 (GRCm39) V271F probably damaging Het
B3gnt5 A G 16: 19,588,123 (GRCm39) Y114C probably damaging Het
Casp7 T A 19: 56,424,765 (GRCm39) D161E probably benign Het
Catsper4 TTCTC TTC 4: 133,954,423 (GRCm39) probably null Het
Ccdc162 T C 10: 41,437,136 (GRCm39) T1758A probably benign Het
Cfap74 C A 4: 155,549,831 (GRCm39) P155T unknown Het
Champ1 A G 8: 13,928,517 (GRCm39) D225G possibly damaging Het
Chrng A T 1: 87,134,962 (GRCm39) probably null Het
Cnksr1 T C 4: 133,963,084 (GRCm39) probably null Het
Col15a1 G A 4: 47,269,088 (GRCm39) G582D probably benign Het
Cwc25 A G 11: 97,648,585 (GRCm39) V81A possibly damaging Het
Ddhd1 A G 14: 45,894,688 (GRCm39) Y261H probably damaging Het
Defa29 A G 8: 21,816,818 (GRCm39) probably null Het
Diaph3 A C 14: 87,202,893 (GRCm39) C666G probably benign Het
Dlx2 A G 2: 71,375,019 (GRCm39) Y282H probably damaging Het
Dsc3 A T 18: 20,113,814 (GRCm39) Y369* probably null Het
Dtwd1 A G 2: 126,000,424 (GRCm39) N120S probably benign Het
Dysf G A 6: 84,169,992 (GRCm39) S1761N probably damaging Het
Enthd1 A T 15: 80,444,416 (GRCm39) N46K probably damaging Het
Epha7 T A 4: 28,813,418 (GRCm39) I12N probably benign Het
Fam171a2 T A 11: 102,328,900 (GRCm39) N620Y probably damaging Het
Garin4 T C 1: 190,896,308 (GRCm39) S112G unknown Het
Gfpt2 A T 11: 49,714,078 (GRCm39) E278D possibly damaging Het
Gm3285 A G 10: 77,698,244 (GRCm39) Q131R unknown Het
Gpcpd1 A C 2: 132,410,619 (GRCm39) C23G probably damaging Het
Gtpbp4 A T 13: 9,037,954 (GRCm39) H228Q probably benign Het
Hdac7 A G 15: 97,704,415 (GRCm39) V500A probably benign Het
Hykk T G 9: 54,828,010 (GRCm39) M83R possibly damaging Het
Idi1 A G 13: 8,936,931 (GRCm39) I101V probably benign Het
Irs2 A T 8: 11,057,018 (GRCm39) H471Q possibly damaging Het
Itsn1 T C 16: 91,702,194 (GRCm39) V12A probably benign Het
Jak2 A G 19: 29,288,385 (GRCm39) I1079V possibly damaging Het
Kcnt2 G A 1: 140,282,255 (GRCm39) R80H possibly damaging Het
Lamb2 T C 9: 108,358,496 (GRCm39) Y178H probably damaging Het
Lgr5 A T 10: 115,423,370 (GRCm39) L10Q possibly damaging Het
Lnx1 G T 5: 74,838,175 (GRCm39) S29* probably null Het
Lpcat3 T A 6: 124,675,050 (GRCm39) F57I probably benign Het
Manf T C 9: 106,769,088 (GRCm39) T4A probably benign Het
Map2k3 G A 11: 60,836,393 (GRCm39) probably null Het
Myh14 G A 7: 44,273,761 (GRCm39) Q1329* probably null Het
Myocd T C 11: 65,078,422 (GRCm39) S458G probably damaging Het
Ncor2 T C 5: 125,187,143 (GRCm39) probably null Het
Ndufs8 A T 19: 3,961,606 (GRCm39) N23K probably benign Het
Nkx6-1 T C 5: 101,812,006 (GRCm39) K32R unknown Het
Nlrp3 T G 11: 59,439,272 (GRCm39) V283G possibly damaging Het
Nme3 A G 17: 25,116,037 (GRCm39) probably null Het
Or1o3 A G 17: 37,574,076 (GRCm39) F160L probably benign Het
Or8g23 C T 9: 38,971,504 (GRCm39) V153M possibly damaging Het
Parvg T C 15: 84,215,297 (GRCm39) probably null Het
Peg10 T A 6: 4,756,591 (GRCm39) M389K unknown Het
Phf23 G T 11: 69,890,091 (GRCm39) C340F possibly damaging Het
Piwil2 A G 14: 70,611,860 (GRCm39) Y929H probably damaging Het
Prss39 A G 1: 34,539,369 (GRCm39) D203G probably damaging Het
Prss54 G T 8: 96,286,367 (GRCm39) D235E probably benign Het
Prtg T A 9: 72,815,117 (GRCm39) M1015K possibly damaging Het
Rbbp8 T C 18: 11,838,799 (GRCm39) I160T probably damaging Het
Rxylt1 A T 10: 121,924,822 (GRCm39) D293E probably benign Het
Scn10a C A 9: 119,438,790 (GRCm39) C1692F probably damaging Het
Scn11a C T 9: 119,648,899 (GRCm39) D55N probably damaging Het
Secisbp2 G T 13: 51,836,498 (GRCm39) V768F probably damaging Het
Spag16 T C 1: 70,338,780 (GRCm39) I426T possibly damaging Het
Sspo G A 6: 48,427,011 (GRCm39) V250M possibly damaging Het
Strbp A T 2: 37,531,149 (GRCm39) probably null Het
Sv2c C T 13: 96,224,809 (GRCm39) V167M probably damaging Het
Tdpoz1 G A 3: 93,577,794 (GRCm39) S330L not run Het
Tigd2 T A 6: 59,188,052 (GRCm39) D306E probably benign Het
Trrap C T 5: 144,782,287 (GRCm39) P3278S possibly damaging Het
Vdac1 A T 11: 52,265,761 (GRCm39) K28N probably damaging Het
Vmn1r84 A T 7: 12,096,069 (GRCm39) M208K probably damaging Het
Vmn2r77 A T 7: 86,460,518 (GRCm39) K615* probably null Het
Vps11 A G 9: 44,265,800 (GRCm39) L493P probably damaging Het
Zbtb21 T C 16: 97,754,179 (GRCm39) I35V possibly damaging Het
Zbtb26 A T 2: 37,326,667 (GRCm39) M123K possibly damaging Het
Zfp236 A T 18: 82,627,470 (GRCm39) D1576E possibly 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
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'- TCCTAAGAAGTGTACTTGTGGAGC -3'
(R):5'- CTAGGTCATAACATAGACCCTGAG -3'

Sequencing Primer
(F):5'- CTTAGAAAGCCGTATTGTTACCTTC -3'
(R):5'- TAGACCCTGAGAATCAAACCAG -3'
Posted On 2019-06-26