Incidental Mutation 'R5114:Kntc1'
ID 394075
Institutional Source Beutler Lab
Gene Symbol Kntc1
Ensembl Gene ENSMUSG00000029414
Gene Name kinetochore associated 1
Synonyms jgl
MMRRC Submission 042702-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R5114 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 123887779-123959656 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 123919118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031366]
AlphaFold Q8C3Y4
Predicted Effect probably null
Transcript: ENSMUST00000031366
SMART Domains Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414

DomainStartEndE-ValueType
low complexity region 345 357 N/A INTRINSIC
low complexity region 747 764 N/A INTRINSIC
low complexity region 1033 1044 N/A INTRINSIC
Pfam:Rod_C 1579 2128 3.2e-256 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197665
Predicted Effect probably benign
Transcript: ENSMUST00000198841
Meta Mutation Damage Score 0.9504 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (93/94)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice have a kinked tail. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T A 9: 120,406,693 (GRCm39) probably benign Het
Ada G A 2: 163,572,406 (GRCm39) R225C probably benign Het
Adamts9 T C 6: 92,867,254 (GRCm39) K625R probably benign Het
Ano1 T C 7: 144,210,820 (GRCm39) I182V possibly damaging Het
Aoc1l2 A T 6: 48,908,292 (GRCm39) M431L probably benign Het
Aox4 T C 1: 58,285,445 (GRCm39) V643A possibly damaging Het
Arcn1 T C 9: 44,671,441 (GRCm39) I29V probably benign Het
Arhgap15 A G 2: 43,670,630 (GRCm39) T5A probably benign Het
Asb10 A T 5: 24,745,740 (GRCm39) L62Q probably damaging Het
Atp23 T A 10: 126,723,403 (GRCm39) H233L possibly damaging Het
Bglap2 C T 3: 88,289,432 (GRCm39) probably benign Het
Carnmt1 T C 19: 18,655,098 (GRCm39) S84P probably damaging Het
Ccdc152 A G 15: 3,312,319 (GRCm39) I180T probably damaging Het
Cdr2l T C 11: 115,284,186 (GRCm39) F174S probably damaging Het
Celsr2 C T 3: 108,301,312 (GRCm39) V2695I probably benign Het
Chd1 C A 17: 15,948,460 (GRCm39) S127R probably benign Het
Chmp4c T A 3: 10,450,646 (GRCm39) F75L probably benign Het
Col13a1 A C 10: 61,725,880 (GRCm39) V260G possibly damaging Het
Col5a1 A G 2: 27,915,664 (GRCm39) N183D probably damaging Het
Cpn1 C T 19: 43,974,634 (GRCm39) V32M probably damaging Het
Cxcl1 A G 5: 91,039,373 (GRCm39) M39V probably benign Het
Dpep2 T A 8: 106,712,825 (GRCm39) D455V probably damaging Het
Dpp7 G A 2: 25,242,749 (GRCm39) T441I possibly damaging Het
Dst C A 1: 34,241,640 (GRCm39) H4001N probably damaging Het
Epg5 G A 18: 78,038,828 (GRCm39) A1519T probably benign Het
Esrp2 C T 8: 106,858,820 (GRCm39) V606I probably benign Het
Fbxo40 T C 16: 36,789,236 (GRCm39) K625E probably damaging Het
Gbp2b A T 3: 142,303,946 (GRCm39) I14F probably damaging Het
Gpr37l1 G T 1: 135,094,676 (GRCm39) F189L probably damaging Het
Heatr5a G A 12: 52,003,020 (GRCm39) Q161* probably null Het
Hspa4l T C 3: 40,700,197 (GRCm39) Y30H possibly damaging Het
Hspg2 G A 4: 137,239,237 (GRCm39) C388Y probably damaging Het
Kcna1 A G 6: 126,619,330 (GRCm39) I330T probably damaging Het
Klhl3 T A 13: 58,166,781 (GRCm39) Y350F probably benign Het
Krtap10-4 A T 10: 77,662,520 (GRCm39) C109* probably null Het
Lrch4 T C 5: 137,636,179 (GRCm39) S377P probably benign Het
Lrrc8c C A 5: 105,755,349 (GRCm39) H375N probably damaging Het
Lsg1 T C 16: 30,380,538 (GRCm39) E633G probably damaging Het
Mcoln1 T C 8: 3,560,697 (GRCm39) probably benign Het
Med12l C A 3: 59,167,109 (GRCm39) T1523K possibly damaging Het
Mrps27 A T 13: 99,547,973 (GRCm39) probably benign Het
Mzb1 T A 18: 35,780,717 (GRCm39) Y158F probably benign Het
Nat8l T A 5: 34,155,823 (GRCm39) C160S probably damaging Het
Ncf4 T C 15: 78,146,593 (GRCm39) probably benign Het
Or1b1 A T 2: 36,994,814 (GRCm39) Y283N probably damaging Het
Or1o3 T C 17: 37,573,730 (GRCm39) Y275C probably damaging Het
Pak2 T A 16: 31,861,936 (GRCm39) probably benign Het
Pcdhga12 T C 18: 37,901,160 (GRCm39) I664T probably benign Het
Pcnx2 A C 8: 126,564,749 (GRCm39) L1048R possibly damaging Het
Pcsk5 T C 19: 17,652,949 (GRCm39) M246V probably damaging Het
Pkd2l2 T A 18: 34,566,355 (GRCm39) V522D probably benign Het
Plekhh1 A T 12: 79,115,880 (GRCm39) M808L probably benign Het
Plpp2 C A 10: 79,362,973 (GRCm39) R157L probably benign Het
Plrg1 T A 3: 82,978,558 (GRCm39) H441Q probably benign Het
Pnpla6 T C 8: 3,572,613 (GRCm39) V300A probably damaging Het
Ptprb A T 10: 116,184,088 (GRCm39) K1633N possibly damaging Het
Ralgapa1 A G 12: 55,659,508 (GRCm39) V2004A possibly damaging Het
Rasd1 G T 11: 59,854,933 (GRCm39) S182R possibly damaging Het
Rc3h2 A T 2: 37,288,373 (GRCm39) probably null Het
Rrp1b T A 17: 32,255,445 (GRCm39) probably benign Het
Ruvbl1 T C 6: 88,474,272 (GRCm39) I425T probably benign Het
Shisal1 T C 15: 84,301,427 (GRCm39) D72G probably damaging Het
Sipa1l1 C T 12: 82,487,682 (GRCm39) A1652V probably benign Het
Slc12a2 A G 18: 58,032,344 (GRCm39) Y348C probably damaging Het
Slc14a2 C A 18: 78,238,963 (GRCm39) V219L possibly damaging Het
Smc1b G T 15: 84,949,185 (GRCm39) P1242Q probably damaging Het
Smim33 A G 18: 35,861,894 (GRCm39) Y126C probably damaging Het
Snx27 T A 3: 94,431,551 (GRCm39) D281V probably damaging Het
Spem2 C T 11: 69,707,973 (GRCm39) V331I probably benign Het
Sptb C A 12: 76,656,052 (GRCm39) K1343N probably damaging Het
Sult2a8 T C 7: 14,147,584 (GRCm39) I236V probably benign Het
Syk A G 13: 52,765,071 (GRCm39) E66G probably damaging Het
Synm T A 7: 67,385,406 (GRCm39) E310V probably damaging Het
Tas2r118 G A 6: 23,969,209 (GRCm39) A284V probably benign Het
Thoc2l T A 5: 104,667,742 (GRCm39) F755I probably damaging Het
Tlr11 A G 14: 50,600,578 (GRCm39) N855D possibly damaging Het
Tmem230 G T 2: 132,087,871 (GRCm39) probably benign Het
Trappc8 G A 18: 20,977,237 (GRCm39) T844I probably benign Het
Trmt44 T C 5: 35,722,812 (GRCm39) S419G possibly damaging Het
Trpv1 T A 11: 73,132,574 (GRCm39) V396E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp2 A G 7: 139,587,354 (GRCm39) I337T possibly damaging Het
Ubr4 T C 4: 139,137,934 (GRCm39) I1097T probably damaging Het
Vmn2r61 T C 7: 41,949,953 (GRCm39) F791S possibly damaging Het
Zdhhc2 T A 8: 40,898,825 (GRCm39) M45K probably benign Het
Zfp383 T A 7: 29,614,166 (GRCm39) D140E probably damaging Het
Zfp712 C A 13: 67,189,425 (GRCm39) K367N probably damaging Het
Zfp763 C T 17: 33,237,949 (GRCm39) A399T probably damaging Het
Other mutations in Kntc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Kntc1 APN 5 123,928,222 (GRCm39) missense probably benign 0.05
IGL00514:Kntc1 APN 5 123,929,590 (GRCm39) missense probably benign 0.00
IGL01103:Kntc1 APN 5 123,902,283 (GRCm39) missense probably damaging 0.96
IGL01106:Kntc1 APN 5 123,900,666 (GRCm39) missense probably benign 0.01
IGL01357:Kntc1 APN 5 123,895,877 (GRCm39) missense probably damaging 1.00
IGL01367:Kntc1 APN 5 123,896,546 (GRCm39) missense probably damaging 1.00
IGL01538:Kntc1 APN 5 123,919,721 (GRCm39) missense probably damaging 1.00
IGL01546:Kntc1 APN 5 123,903,068 (GRCm39) missense probably benign 0.02
IGL01595:Kntc1 APN 5 123,941,758 (GRCm39) missense probably benign 0.30
IGL01725:Kntc1 APN 5 123,902,253 (GRCm39) missense probably benign
IGL01916:Kntc1 APN 5 123,939,976 (GRCm39) missense probably damaging 1.00
IGL01936:Kntc1 APN 5 123,949,439 (GRCm39) missense probably damaging 1.00
IGL01942:Kntc1 APN 5 123,916,330 (GRCm39) missense probably damaging 1.00
IGL01973:Kntc1 APN 5 123,904,021 (GRCm39) missense probably damaging 1.00
IGL01982:Kntc1 APN 5 123,947,159 (GRCm39) missense probably benign 0.12
IGL02145:Kntc1 APN 5 123,900,661 (GRCm39) missense possibly damaging 0.80
IGL02510:Kntc1 APN 5 123,957,125 (GRCm39) missense probably benign 0.03
IGL02611:Kntc1 APN 5 123,950,128 (GRCm39) missense probably damaging 1.00
IGL02669:Kntc1 APN 5 123,893,727 (GRCm39) splice site probably benign
IGL02737:Kntc1 APN 5 123,957,183 (GRCm39) missense probably benign 0.17
IGL02793:Kntc1 APN 5 123,916,340 (GRCm39) splice site probably null
IGL02809:Kntc1 APN 5 123,914,645 (GRCm39) missense probably damaging 1.00
IGL02860:Kntc1 APN 5 123,907,936 (GRCm39) missense possibly damaging 0.49
IGL02875:Kntc1 APN 5 123,916,340 (GRCm39) splice site probably null
IGL02931:Kntc1 APN 5 123,937,874 (GRCm39) missense probably damaging 1.00
IGL03169:Kntc1 APN 5 123,913,884 (GRCm39) missense possibly damaging 0.80
IGL03267:Kntc1 APN 5 123,896,543 (GRCm39) missense probably damaging 1.00
R0006:Kntc1 UTSW 5 123,927,201 (GRCm39) missense probably benign 0.19
R0006:Kntc1 UTSW 5 123,927,201 (GRCm39) missense probably benign 0.19
R0017:Kntc1 UTSW 5 123,919,044 (GRCm39) missense probably damaging 1.00
R0125:Kntc1 UTSW 5 123,903,120 (GRCm39) splice site probably benign
R0324:Kntc1 UTSW 5 123,916,175 (GRCm39) missense probably damaging 1.00
R0580:Kntc1 UTSW 5 123,941,732 (GRCm39) missense probably benign 0.00
R0608:Kntc1 UTSW 5 123,924,137 (GRCm39) missense probably damaging 0.98
R0725:Kntc1 UTSW 5 123,907,767 (GRCm39) missense possibly damaging 0.92
R0733:Kntc1 UTSW 5 123,928,979 (GRCm39) missense probably null
R0781:Kntc1 UTSW 5 123,937,965 (GRCm39) splice site probably benign
R0787:Kntc1 UTSW 5 123,934,167 (GRCm39) missense probably benign
R1250:Kntc1 UTSW 5 123,922,262 (GRCm39) missense possibly damaging 0.71
R1253:Kntc1 UTSW 5 123,948,925 (GRCm39) frame shift probably null
R1467:Kntc1 UTSW 5 123,925,047 (GRCm39) missense probably benign 0.04
R1467:Kntc1 UTSW 5 123,925,047 (GRCm39) missense probably benign 0.04
R1481:Kntc1 UTSW 5 123,916,338 (GRCm39) missense probably benign 0.00
R1572:Kntc1 UTSW 5 123,910,176 (GRCm39) missense probably damaging 0.99
R1624:Kntc1 UTSW 5 123,896,540 (GRCm39) missense possibly damaging 0.48
R1749:Kntc1 UTSW 5 123,927,162 (GRCm39) missense probably benign 0.00
R1993:Kntc1 UTSW 5 123,948,874 (GRCm39) critical splice acceptor site probably null
R1993:Kntc1 UTSW 5 123,897,162 (GRCm39) critical splice donor site probably null
R2071:Kntc1 UTSW 5 123,932,340 (GRCm39) splice site probably null
R2237:Kntc1 UTSW 5 123,941,733 (GRCm39) missense possibly damaging 0.50
R2239:Kntc1 UTSW 5 123,941,733 (GRCm39) missense possibly damaging 0.50
R2366:Kntc1 UTSW 5 123,919,255 (GRCm39) missense probably damaging 1.00
R2367:Kntc1 UTSW 5 123,919,255 (GRCm39) missense probably damaging 1.00
R2382:Kntc1 UTSW 5 123,898,411 (GRCm39) missense probably damaging 0.99
R2389:Kntc1 UTSW 5 123,919,255 (GRCm39) missense probably damaging 1.00
R2413:Kntc1 UTSW 5 123,902,212 (GRCm39) missense probably benign 0.01
R2442:Kntc1 UTSW 5 123,948,922 (GRCm39) missense probably damaging 1.00
R2504:Kntc1 UTSW 5 123,916,410 (GRCm39) nonsense probably null
R2943:Kntc1 UTSW 5 123,935,847 (GRCm39) missense possibly damaging 0.68
R3116:Kntc1 UTSW 5 123,940,121 (GRCm39) missense probably damaging 1.00
R4107:Kntc1 UTSW 5 123,900,661 (GRCm39) missense probably damaging 0.99
R4176:Kntc1 UTSW 5 123,914,680 (GRCm39) missense possibly damaging 0.76
R4275:Kntc1 UTSW 5 123,905,842 (GRCm39) missense probably damaging 1.00
R4440:Kntc1 UTSW 5 123,932,216 (GRCm39) missense probably damaging 1.00
R4575:Kntc1 UTSW 5 123,904,018 (GRCm39) missense probably damaging 1.00
R4576:Kntc1 UTSW 5 123,904,018 (GRCm39) missense probably damaging 1.00
R4578:Kntc1 UTSW 5 123,904,018 (GRCm39) missense probably damaging 1.00
R4612:Kntc1 UTSW 5 123,950,706 (GRCm39) missense probably damaging 1.00
R4704:Kntc1 UTSW 5 123,949,496 (GRCm39) missense probably damaging 0.96
R4720:Kntc1 UTSW 5 123,903,086 (GRCm39) missense possibly damaging 0.65
R4784:Kntc1 UTSW 5 123,954,825 (GRCm39) missense possibly damaging 0.89
R4785:Kntc1 UTSW 5 123,954,825 (GRCm39) missense possibly damaging 0.89
R4824:Kntc1 UTSW 5 123,928,196 (GRCm39) nonsense probably null
R4847:Kntc1 UTSW 5 123,940,337 (GRCm39) missense probably benign 0.18
R4849:Kntc1 UTSW 5 123,897,128 (GRCm39) missense probably benign 0.02
R4904:Kntc1 UTSW 5 123,916,396 (GRCm39) missense possibly damaging 0.47
R4922:Kntc1 UTSW 5 123,940,309 (GRCm39) missense probably damaging 0.99
R5080:Kntc1 UTSW 5 123,900,649 (GRCm39) missense possibly damaging 0.68
R5171:Kntc1 UTSW 5 123,937,907 (GRCm39) missense probably benign 0.01
R5220:Kntc1 UTSW 5 123,950,160 (GRCm39) missense probably damaging 1.00
R5226:Kntc1 UTSW 5 123,932,235 (GRCm39) missense probably benign 0.09
R5278:Kntc1 UTSW 5 123,919,077 (GRCm39) missense probably damaging 1.00
R5329:Kntc1 UTSW 5 123,902,254 (GRCm39) missense probably benign 0.02
R5496:Kntc1 UTSW 5 123,922,245 (GRCm39) missense probably benign 0.00
R5503:Kntc1 UTSW 5 123,957,939 (GRCm39) missense possibly damaging 0.81
R5633:Kntc1 UTSW 5 123,957,120 (GRCm39) missense probably damaging 0.99
R5638:Kntc1 UTSW 5 123,956,538 (GRCm39) missense possibly damaging 0.65
R5697:Kntc1 UTSW 5 123,903,070 (GRCm39) missense probably benign 0.00
R5757:Kntc1 UTSW 5 123,945,372 (GRCm39) critical splice donor site probably null
R5773:Kntc1 UTSW 5 123,932,220 (GRCm39) missense probably damaging 1.00
R5940:Kntc1 UTSW 5 123,924,258 (GRCm39) missense probably benign 0.05
R6019:Kntc1 UTSW 5 123,900,579 (GRCm39) missense probably benign 0.03
R6230:Kntc1 UTSW 5 123,927,072 (GRCm39) splice site probably null
R6437:Kntc1 UTSW 5 123,907,754 (GRCm39) missense probably damaging 0.98
R6888:Kntc1 UTSW 5 123,949,373 (GRCm39) missense probably damaging 1.00
R6907:Kntc1 UTSW 5 123,939,888 (GRCm39) missense probably damaging 1.00
R7123:Kntc1 UTSW 5 123,919,789 (GRCm39) missense probably damaging 1.00
R7262:Kntc1 UTSW 5 123,925,036 (GRCm39) missense probably benign 0.18
R7381:Kntc1 UTSW 5 123,948,971 (GRCm39) missense probably benign 0.12
R7485:Kntc1 UTSW 5 123,925,019 (GRCm39) missense possibly damaging 0.79
R7512:Kntc1 UTSW 5 123,929,001 (GRCm39) missense probably damaging 1.00
R7581:Kntc1 UTSW 5 123,954,818 (GRCm39) missense probably benign 0.05
R7687:Kntc1 UTSW 5 123,897,152 (GRCm39) missense probably benign 0.01
R7798:Kntc1 UTSW 5 123,957,180 (GRCm39) missense possibly damaging 0.94
R7798:Kntc1 UTSW 5 123,924,357 (GRCm39) missense probably benign
R7871:Kntc1 UTSW 5 123,922,290 (GRCm39) missense probably damaging 1.00
R7876:Kntc1 UTSW 5 123,913,850 (GRCm39) missense probably damaging 1.00
R7947:Kntc1 UTSW 5 123,919,951 (GRCm39) missense unknown
R7997:Kntc1 UTSW 5 123,916,117 (GRCm39) missense probably damaging 0.96
R8231:Kntc1 UTSW 5 123,920,959 (GRCm39) missense possibly damaging 0.47
R8257:Kntc1 UTSW 5 123,896,586 (GRCm39) critical splice donor site probably null
R8345:Kntc1 UTSW 5 123,924,993 (GRCm39) missense probably benign 0.37
R8354:Kntc1 UTSW 5 123,916,330 (GRCm39) missense probably damaging 1.00
R8732:Kntc1 UTSW 5 123,928,180 (GRCm39) missense probably benign 0.00
R8754:Kntc1 UTSW 5 123,897,115 (GRCm39) missense probably benign 0.01
R8947:Kntc1 UTSW 5 123,925,041 (GRCm39) missense probably benign 0.01
R9041:Kntc1 UTSW 5 123,927,093 (GRCm39) missense probably benign 0.00
R9182:Kntc1 UTSW 5 123,940,355 (GRCm39) missense probably damaging 1.00
R9432:Kntc1 UTSW 5 123,925,112 (GRCm39) missense possibly damaging 0.93
R9460:Kntc1 UTSW 5 123,941,378 (GRCm39) nonsense probably null
R9468:Kntc1 UTSW 5 123,954,776 (GRCm39) missense probably damaging 1.00
R9643:Kntc1 UTSW 5 123,949,440 (GRCm39) missense probably damaging 1.00
R9646:Kntc1 UTSW 5 123,897,119 (GRCm39) missense probably benign 0.01
R9721:Kntc1 UTSW 5 123,939,948 (GRCm39) missense probably benign 0.01
R9789:Kntc1 UTSW 5 123,898,706 (GRCm39) missense possibly damaging 0.87
X0027:Kntc1 UTSW 5 123,948,992 (GRCm39) missense probably benign 0.00
X0065:Kntc1 UTSW 5 123,916,100 (GRCm39) nonsense probably null
X0067:Kntc1 UTSW 5 123,916,137 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTGACCATAGGAGGAAGCGC -3'
(R):5'- TTGTTCAGGAGATTCACCTCTC -3'

Sequencing Primer
(F):5'- GATGAAACGCTCTCAGTCTCC -3'
(R):5'- GTTCAGGAGATTCACCTCTCTTATC -3'
Posted On 2016-06-15