Incidental Mutation 'R7381:Kntc1'
ID 572710
Institutional Source Beutler Lab
Gene Symbol Kntc1
Ensembl Gene ENSMUSG00000029414
Gene Name kinetochore associated 1
Synonyms jgl
MMRRC Submission 045463-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R7381 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 123887779-123959656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 123948971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1905 (F1905L)
Ref Sequence ENSEMBL: ENSMUSP00000031366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031366]
AlphaFold Q8C3Y4
Predicted Effect probably benign
Transcript: ENSMUST00000031366
AA Change: F1905L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: F1905L

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 probably benign
Transcript: ENSMUST00000197265
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (88/90)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,323,122 (GRCm39) Y53H probably damaging Het
Abca8a A T 11: 109,920,913 (GRCm39) probably null Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Acsm3 A G 7: 119,380,049 (GRCm39) D462G probably damaging Het
Adam39 T A 8: 41,279,000 (GRCm39) C464S probably damaging Het
Adgra3 A G 5: 50,216,116 (GRCm39) M1T probably null Het
AI182371 T C 2: 34,975,371 (GRCm39) Y276C probably damaging Het
Ank2 T A 3: 126,730,277 (GRCm39) H719L possibly damaging Het
Ano7 G A 1: 93,323,057 (GRCm39) V466I probably benign Het
Art5 A G 7: 101,747,377 (GRCm39) L134P probably damaging Het
Atcay A G 10: 81,046,431 (GRCm39) Y298H possibly damaging Het
Atp1a4 A T 1: 172,067,682 (GRCm39) F527Y possibly damaging Het
Bpifb2 A T 2: 153,734,268 (GRCm39) M428L probably benign Het
Brinp2 A C 1: 158,073,913 (GRCm39) V736G probably benign Het
Cdc5l C T 17: 45,722,849 (GRCm39) A437T probably benign Het
Cdx2 G A 5: 147,243,440 (GRCm39) P118L possibly damaging Het
Chpt1 G A 10: 88,311,193 (GRCm39) probably null Het
Creb3l2 T A 6: 37,312,783 (GRCm39) E417V probably damaging Het
Csnk2a1 A G 2: 152,100,614 (GRCm39) T129A probably benign Het
Dennd6b A T 15: 89,070,376 (GRCm39) L431Q possibly damaging Het
Dgkz C T 2: 91,775,180 (GRCm39) A260T probably benign Het
Dhx34 T A 7: 15,949,373 (GRCm39) T352S probably benign Het
Elp4 C T 2: 105,622,652 (GRCm39) R349Q not run Het
Emsy A C 7: 98,240,010 (GRCm39) F1228V probably damaging Het
Eps8l1 T A 7: 4,473,437 (GRCm39) probably null Het
Faf1 T A 4: 109,719,134 (GRCm39) D413E probably damaging Het
Fat3 T C 9: 16,158,283 (GRCm39) Y1109C probably damaging Het
Fbp1 T C 13: 63,012,867 (GRCm39) K314E probably benign Het
Fbxl20 A G 11: 97,981,614 (GRCm39) V358A probably benign Het
Fbxo34 C G 14: 47,767,992 (GRCm39) R502G probably benign Het
Fxr2 G A 11: 69,532,875 (GRCm39) C151Y possibly damaging Het
Garin5b C A 7: 4,760,681 (GRCm39) R677L Het
Gja8 T C 3: 96,827,338 (GRCm39) D108G probably benign Het
Gm10722 C A 9: 3,001,235 (GRCm39) L104I probably benign Het
Grsf1 A G 5: 88,813,666 (GRCm39) V361A probably benign Het
Gsap T A 5: 21,431,785 (GRCm39) I228N probably damaging Het
Hagh T C 17: 25,075,686 (GRCm39) I131T probably damaging Het
Heca A T 10: 17,791,272 (GRCm39) Y261* probably null Het
Hipk3 A G 2: 104,269,696 (GRCm39) F498L probably damaging Het
Hps4 T A 5: 112,523,324 (GRCm39) I614N possibly damaging Het
Icam1 T C 9: 20,938,886 (GRCm39) S450P probably benign Het
Il22 G A 10: 118,041,069 (GRCm39) M58I possibly damaging Het
Khdrbs2 T A 1: 32,372,883 (GRCm39) S186T not run Het
Kif16b A G 2: 142,699,343 (GRCm39) F79S probably damaging Het
Liat1 A T 11: 75,893,833 (GRCm39) D70V probably damaging Het
Lrp1b C T 2: 40,692,929 (GRCm39) G3423D Het
Lrp5 G T 19: 3,643,588 (GRCm39) Q1346K probably benign Het
Map3k21 A C 8: 126,671,717 (GRCm39) T1002P possibly damaging Het
Mdga2 G T 12: 66,615,670 (GRCm39) R646S probably benign Het
Mex3b G T 7: 82,518,073 (GRCm39) M129I possibly damaging Het
Mfsd10 G T 5: 34,793,770 (GRCm39) N85K probably damaging Het
Mios A G 6: 8,216,064 (GRCm39) D420G probably damaging Het
Mogs C A 6: 83,092,613 (GRCm39) P18T unknown Het
Mrgpre A G 7: 143,335,150 (GRCm39) C118R probably damaging Het
Muc4 A T 16: 32,601,285 (GRCm39) H1321L Het
Nkapl T C 13: 21,651,759 (GRCm39) K285E probably damaging Het
Nphp4 C T 4: 152,583,460 (GRCm39) P200S possibly damaging Het
Piezo1 A G 8: 123,228,397 (GRCm39) F297L Het
Pkhd1 T G 1: 20,271,197 (GRCm39) S3119R probably damaging Het
Pla2g15 G A 8: 106,889,576 (GRCm39) V283I probably benign Het
Ppp1r13l T A 7: 19,102,786 (GRCm39) probably null Het
Prex1 A G 2: 166,429,047 (GRCm39) Y849H probably damaging Het
Psg27 C A 7: 18,301,008 (GRCm39) W15L probably benign Het
Ptar1 A T 19: 23,686,334 (GRCm39) probably null Het
Ptpn6 G A 6: 124,705,135 (GRCm39) R264C probably damaging Het
Ptprb A G 10: 116,177,038 (GRCm39) I988V probably benign Het
Ptpro G A 6: 137,376,559 (GRCm39) V680I possibly damaging Het
Rnf170 C T 8: 26,613,876 (GRCm39) P28S probably benign Het
Rnpepl1 A G 1: 92,846,917 (GRCm39) S580G possibly damaging Het
Rtel1 C T 2: 180,972,608 (GRCm39) R29* probably null Het
Rtkn T C 6: 83,128,726 (GRCm39) L26P probably damaging Het
Sdk2 A C 11: 113,729,315 (GRCm39) S1087R probably damaging Het
Sema7a C T 9: 57,860,852 (GRCm39) P71L probably benign Het
Sgpp1 C T 12: 75,763,038 (GRCm39) C381Y probably damaging Het
Sis A T 3: 72,820,625 (GRCm39) probably null Het
Slc24a5 A C 2: 124,910,869 (GRCm39) D100A probably benign Het
Slc25a23 A T 17: 57,360,587 (GRCm39) I251K probably damaging Het
Slc6a5 T A 7: 49,579,804 (GRCm39) L394H probably damaging Het
Slc7a4 A T 16: 17,392,920 (GRCm39) M293K probably damaging Het
Syne2 T A 12: 75,973,263 (GRCm39) S1089T probably benign Het
Tanc1 A T 2: 59,615,670 (GRCm39) T226S probably damaging Het
Tdrd6 T C 17: 43,936,984 (GRCm39) T1355A probably benign Het
Tmem101 A G 11: 102,044,176 (GRCm39) M237T possibly damaging Het
Ttn G A 2: 76,749,359 (GRCm39) H3897Y possibly damaging Het
Tubb4a C T 17: 57,387,698 (GRCm39) V443M unknown Het
Ucp2 G A 7: 100,147,576 (GRCm39) R185H possibly damaging Het
Vmn1r116 G T 7: 20,606,436 (GRCm39) E86* probably null Het
Vmn2r37 T C 7: 9,213,032 (GRCm39) E530G probably benign Het
Vwa8 A G 14: 79,333,125 (GRCm39) T1293A probably benign Het
Zfc3h1 T A 10: 115,260,535 (GRCm39) Y1711N probably benign Het
Zfp873 A T 10: 81,896,805 (GRCm39) E512V probably damaging Het
Zfyve16 T A 13: 92,657,654 (GRCm39) K752N probably damaging Het
Zhx1 T C 15: 57,916,561 (GRCm39) N562D possibly 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
R5114:Kntc1 UTSW 5 123,919,118 (GRCm39) critical splice donor site probably null
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
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'- GCCTAAGTTGAAGTCAGTTGC -3'
(R):5'- CAGTCAACTTCCAAATGTTGCTAAG -3'

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