Incidental Mutation 'R7404:Skic3'
ID 574453
Institutional Source Beutler Lab
Gene Symbol Skic3
Ensembl Gene ENSMUSG00000033991
Gene Name SKI3 subunit of superkiller complex
Synonyms Ttc37
MMRRC Submission 045486-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R7404 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 76246853-76338435 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 76296866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1074 (Y1074*)
Ref Sequence ENSEMBL: ENSMUSP00000089045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091466] [ENSMUST00000224386]
AlphaFold F8VPK0
Predicted Effect probably null
Transcript: ENSMUST00000091466
AA Change: Y1074*
SMART Domains Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: Y1074*

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 null
Transcript: ENSMUST00000224386
AA Change: Y1074*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (92/93)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,955,099 (GRCm39) A297T probably damaging Het
Adprhl1 T A 8: 13,275,118 (GRCm39) S547C probably damaging Het
Ankrd63 G C 2: 118,533,793 (GRCm39) R43G unknown Het
Asah2 T C 19: 32,035,254 (GRCm39) T24A probably benign Het
Asb17 G A 3: 153,550,447 (GRCm39) probably null Het
Atp8b5 C T 4: 43,342,640 (GRCm39) T437I probably benign Het
Bbs2 T C 8: 94,808,992 (GRCm39) D311G probably damaging Het
Birc6 C T 17: 74,946,789 (GRCm39) T2851I possibly damaging Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Cchcr1 T C 17: 35,835,693 (GRCm39) W266R probably benign Het
Col14a1 C A 15: 55,252,024 (GRCm39) S560* probably null Het
Crocc G A 4: 140,753,497 (GRCm39) T1317M possibly damaging Het
Cxxc1 T A 18: 74,352,278 (GRCm39) V334E possibly damaging Het
Cyp3a25 T A 5: 145,923,635 (GRCm39) D336V probably damaging Het
Dapk1 A G 13: 60,867,455 (GRCm39) T221A probably benign Het
Dnah11 G T 12: 118,068,543 (GRCm39) T1605K probably benign Het
Dnah7c T C 1: 46,705,223 (GRCm39) V2412A possibly damaging Het
Ect2l T A 10: 18,035,529 (GRCm39) D524V probably damaging Het
Ehbp1l1 T C 19: 5,770,872 (GRCm39) E223G possibly damaging Het
Ephb2 A T 4: 136,498,524 (GRCm39) M185K probably damaging Het
Fcer1a T C 1: 173,049,083 (GRCm39) K243E probably damaging Het
Fcgbp T A 7: 27,800,932 (GRCm39) I1326N probably damaging Het
Fgfr1 T C 8: 26,045,566 (GRCm39) V45A probably benign Het
Filip1 T A 9: 79,727,380 (GRCm39) E413V possibly damaging Het
Frs3 T C 17: 48,013,651 (GRCm39) probably null Het
Fstl4 A G 11: 53,024,898 (GRCm39) T257A probably benign Het
Golga5 A T 12: 102,450,778 (GRCm39) K477M probably damaging Het
Gpr171 A T 3: 59,005,622 (GRCm39) I51K probably damaging Het
H1f0 T A 15: 78,913,080 (GRCm39) Y53* probably null Het
Hephl1 A G 9: 14,981,047 (GRCm39) V795A possibly damaging Het
Hmcn1 A T 1: 150,596,510 (GRCm39) D1775E probably benign Het
Hs3st2 A G 7: 121,100,168 (GRCm39) D338G possibly damaging Het
Hsd3b6 T A 3: 98,713,534 (GRCm39) Y255F probably benign Het
Hspa9 T C 18: 35,076,329 (GRCm39) N328D possibly damaging Het
Hvcn1 T A 5: 122,375,748 (GRCm39) I100N probably damaging Het
Ifi207 C T 1: 173,556,494 (GRCm39) S748N possibly damaging Het
Katnip A T 7: 125,464,434 (GRCm39) N1267I probably damaging Het
Kcnma1 G T 14: 24,052,902 (GRCm39) T180K unknown Het
Kctd16 A G 18: 40,391,826 (GRCm39) D138G probably damaging Het
Kifc3 A G 8: 95,830,092 (GRCm39) Y605H probably benign Het
Kmt2d T A 15: 98,743,376 (GRCm39) Q3928L unknown Het
Lamb2 C T 9: 108,364,782 (GRCm39) R1179C probably damaging Het
Layn T A 9: 50,968,670 (GRCm39) I358F possibly damaging Het
Lrig1 G A 6: 94,603,452 (GRCm39) T232M probably damaging Het
Lrp1 T C 10: 127,418,577 (GRCm39) T38A Het
Map3k14 A G 11: 103,129,918 (GRCm39) V333A probably benign Het
Med13 T C 11: 86,177,272 (GRCm39) D1608G possibly damaging Het
Mrps31 T G 8: 22,911,429 (GRCm39) S224A probably benign Het
Msh6 G T 17: 88,282,548 (GRCm39) Het
Ncapd3 A G 9: 26,978,315 (GRCm39) D838G probably benign Het
Nlrp1a C A 11: 70,987,919 (GRCm39) E1184* probably null Het
Npat T A 9: 53,466,233 (GRCm39) probably null Het
Nup210 A T 6: 91,050,227 (GRCm39) I414N probably benign Het
Or1e19 A T 11: 73,316,419 (GRCm39) L130H probably damaging Het
Or52n2 A T 7: 104,542,181 (GRCm39) V218E possibly damaging Het
Or5b122 T A 19: 13,562,752 (GRCm39) I28N possibly damaging Het
Or5h19 T C 16: 58,856,603 (GRCm39) T166A possibly damaging Het
Or6z5 T C 7: 6,477,163 (GRCm39) L18P probably damaging Het
Or8b12c A T 9: 37,715,257 (GRCm39) T17S possibly damaging Het
Or8h7 A C 2: 86,721,217 (GRCm39) L101V probably benign Het
Otud7b G C 3: 96,043,936 (GRCm39) probably null Het
Phf11d A C 14: 59,596,942 (GRCm39) W86G probably benign Het
Pik3c2b T A 1: 133,018,444 (GRCm39) S964T probably damaging Het
Pira1 T C 7: 3,742,344 (GRCm39) Y61C probably damaging Het
Plod3 G A 5: 137,023,901 (GRCm39) V687I probably benign Het
Poglut1 T G 16: 38,358,284 (GRCm39) Y208S possibly damaging Het
Pou1f1 T A 16: 65,330,749 (GRCm39) L253H probably damaging Het
Pou2f1 C T 1: 165,738,955 (GRCm39) A166T unknown Het
Rhbdl3 C T 11: 80,237,659 (GRCm39) S297L probably damaging Het
Rxra A T 2: 27,631,866 (GRCm39) N179I probably damaging Het
Ryr2 C T 13: 11,750,506 (GRCm39) E1922K probably damaging Het
Scube1 T C 15: 83,499,211 (GRCm39) Y668C probably damaging Het
Sec16b A G 1: 157,358,927 (GRCm39) Y120C probably damaging Het
Sec61b G T 4: 47,483,047 (GRCm39) K92N probably damaging Het
Slc13a3 T C 2: 165,275,984 (GRCm39) N254S possibly damaging Het
Slc17a7 T A 7: 44,822,354 (GRCm39) Y397N probably benign Het
Slc25a3 A G 10: 90,952,902 (GRCm39) V333A possibly damaging Het
Slc7a8 A T 14: 54,964,283 (GRCm39) V390E probably damaging Het
Sorbs2 G A 8: 46,212,233 (GRCm39) probably null Het
Srgap1 T C 10: 121,621,650 (GRCm39) N948D probably benign Het
Tacc2 A T 7: 130,225,066 (GRCm39) T584S probably benign Het
Tec A T 5: 72,920,961 (GRCm39) D471E probably damaging Het
Tecpr2 C T 12: 110,898,038 (GRCm39) A430V probably benign Het
Tmcc2 A T 1: 132,288,759 (GRCm39) D309E probably damaging Het
Tmem82 G A 4: 141,344,742 (GRCm39) A67V possibly damaging Het
Ttc23l T C 15: 10,551,663 (GRCm39) Q21R probably damaging Het
Ubl3 A G 5: 148,448,764 (GRCm39) F26L probably damaging Het
Upf2 A G 2: 6,045,014 (GRCm39) E1088G unknown Het
Usp9y T A Y: 1,341,780 (GRCm39) I1362F probably benign Het
Wnk4 T A 11: 101,159,318 (GRCm39) probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfc3h1 T A 10: 115,251,153 (GRCm39) V1248D probably damaging Het
Zfp12 T A 5: 143,226,099 (GRCm39) V56D 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
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'- TCAGAAGGTGGGGATTGTCAC -3'
(R):5'- AAGACTTTCGGGATCTGACTG -3'

Sequencing Primer
(F):5'- GTGGGGATTGTCACTTGTAACAAAC -3'
(R):5'- GATCTGACTGGTAAGTGTTAAAGCC -3'
Posted On 2019-09-13