Incidental Mutation 'R1572:Kntc1'
ID 170833
Institutional Source Beutler Lab
Gene Symbol Kntc1
Ensembl Gene ENSMUSG00000029414
Gene Name kinetochore associated 1
Synonyms
MMRRC Submission 039611-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R1572 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 123749716-123821593 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123772113 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 525 (T525A)
Ref Sequence ENSEMBL: ENSMUSP00000031366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031366]
AlphaFold Q8C3Y4
Predicted Effect probably damaging
Transcript: ENSMUST00000031366
AA Change: T525A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: T525A

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
Meta Mutation Damage Score 0.4587 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 92.9%
  • 20x: 80.7%
Validation Efficiency 97% (130/134)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik G A 9: 50,740,673 T85M probably damaging Het
5430419D17Rik T A 7: 131,244,831 Y777* probably null Het
Actn1 A G 12: 80,172,957 probably benign Het
Afap1l1 A T 18: 61,737,499 S603T probably damaging Het
Ahcy T C 2: 155,068,931 Y39C probably benign Het
Ankmy2 T C 12: 36,186,942 probably null Het
Anxa13 A T 15: 58,348,807 noncoding transcript Het
Aoc1 T C 6: 48,905,786 S221P possibly damaging Het
Arhgef10 C A 8: 14,991,211 A770D possibly damaging Het
Arhgef19 A G 4: 141,254,754 D707G probably benign Het
Arhgef3 G A 14: 27,401,735 R444H probably damaging Het
Asphd1 T C 7: 126,949,099 I11V probably benign Het
Atp2b1 A G 10: 98,994,675 M333V probably benign Het
BC051665 T C 13: 60,785,027 Y40C probably damaging Het
Ccdc87 T A 19: 4,840,313 S278T probably benign Het
Chaf1b G A 16: 93,901,230 G463D possibly damaging Het
Chrna4 T C 2: 181,029,307 T219A possibly damaging Het
Clcnkb T G 4: 141,407,095 T584P possibly damaging Het
Clptm1l T C 13: 73,607,747 S161P probably benign Het
Cmya5 T C 13: 93,094,269 E1437G possibly damaging Het
Col13a1 A T 10: 61,866,426 probably null Het
Col3a1 T C 1: 45,345,968 S82P possibly damaging Het
Cpeb3 A T 19: 37,139,082 M383K probably benign Het
Cr2 T A 1: 195,163,314 H111L probably damaging Het
Cttnbp2 T C 6: 18,375,975 S1522G possibly damaging Het
Cul3 T C 1: 80,282,789 D281G possibly damaging Het
Cyp2c70 T G 19: 40,183,982 K72T probably benign Het
Cyp39a1 A T 17: 43,680,129 I110F probably damaging Het
Cyp46a1 T A 12: 108,351,939 M203K probably null Het
Cyp8b1 A T 9: 121,914,958 V436D possibly damaging Het
Ddx17 T C 15: 79,538,565 D324G probably damaging Het
Dopey2 A G 16: 93,770,153 N1274S probably damaging Het
Dscaml1 G A 9: 45,721,333 V1166I probably benign Het
Dsp T C 13: 38,195,738 V1554A probably damaging Het
Dusp27 C T 1: 166,099,455 V863M possibly damaging Het
Efr3a T A 15: 65,854,792 probably null Het
Egfem1 A T 3: 29,648,271 N223I probably benign Het
Egr2 T C 10: 67,539,975 S147P probably damaging Het
Elmo3 A G 8: 105,308,301 T408A probably benign Het
Flnb A G 14: 7,883,908 D378G probably damaging Het
Foxj2 T A 6: 122,833,261 M193K probably benign Het
Gm6327 A G 16: 12,760,156 noncoding transcript Het
Gm7694 T C 1: 170,302,766 H21R probably benign Het
Gpr107 A G 2: 31,167,025 D43G probably damaging Het
Grid2 T A 6: 64,429,694 Y679* probably null Het
Grin2c G A 11: 115,256,074 P432S possibly damaging Het
H2-M10.1 A G 17: 36,325,733 F60L possibly damaging Het
Hectd4 A G 5: 121,301,878 D1147G possibly damaging Het
Idua G T 5: 108,680,589 A223S probably benign Het
Ifi206 T C 1: 173,486,853 Q7R probably benign Het
Itgad T A 7: 128,203,234 V986E probably damaging Het
Itsn2 G A 12: 4,650,044 R670H probably benign Het
Kdm4a T C 4: 118,138,949 E961G possibly damaging Het
Klra5 T A 6: 129,906,622 I91L probably damaging Het
Lct A G 1: 128,294,195 F1536L probably benign Het
Lmod1 T A 1: 135,363,933 D175E probably benign Het
Lonrf1 A C 8: 36,233,972 D361E probably benign Het
Lrrc19 T C 4: 94,638,429 Y297C probably damaging Het
Mast4 T C 13: 102,736,923 E1787G possibly damaging Het
Mpp2 G A 11: 102,060,548 A452V probably benign Het
Msh2 T C 17: 87,718,652 V686A possibly damaging Het
Mthfd1 C T 12: 76,270,419 Q15* probably null Het
Mtnr1b A T 9: 15,863,142 I207N probably damaging Het
Nid2 A G 14: 19,805,412 T1207A probably benign Het
Nin A T 12: 70,038,750 V1569D probably damaging Het
Nov T A 15: 54,749,252 M219K possibly damaging Het
Nrcam T A 12: 44,537,364 probably benign Het
Nsd1 T A 13: 55,246,969 H897Q probably damaging Het
Olfr102 A T 17: 37,313,480 N301K probably benign Het
Olfr1364 T A 13: 21,574,310 I49F possibly damaging Het
Olfr77 G T 9: 19,920,912 K234N probably benign Het
Olfr979 A G 9: 40,001,194 F11S probably benign Het
Paip1 T C 13: 119,451,784 probably benign Het
Pcnx3 G A 19: 5,685,347 R484* probably null Het
Pdxk A G 10: 78,447,980 Y127H probably damaging Het
Phf20 T A 2: 156,287,834 V442E probably benign Het
Phlpp1 G A 1: 106,392,789 D1505N probably damaging Het
Pkhd1 T C 1: 20,347,440 T2496A probably benign Het
Pkhd1l1 A G 15: 44,543,473 T2369A probably benign Het
Plod2 T A 9: 92,603,067 probably benign Het
Pnpla7 T A 2: 25,015,251 M617K possibly damaging Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Prkch T A 12: 73,649,357 probably null Het
Prr12 G A 7: 45,028,800 H1974Y unknown Het
Prr16 A G 18: 51,302,970 I174V probably benign Het
Prss45 A T 9: 110,838,429 T39S probably benign Het
Pum1 T A 4: 130,718,204 D161E probably damaging Het
Rad51ap2 A G 12: 11,457,112 D345G probably damaging Het
Ralgapb A G 2: 158,446,199 probably benign Het
Rasgrp3 A G 17: 75,500,734 H262R possibly damaging Het
Rnf213 T A 11: 119,436,611 I1809N probably damaging Het
Ryr1 A G 7: 29,062,191 L3177P probably damaging Het
Scyl2 C A 10: 89,650,956 R230L probably damaging Het
Sfxn2 T C 19: 46,582,476 probably benign Het
Slc18b1 T C 10: 23,798,741 probably benign Het
Spata31d1d T C 13: 59,728,191 H510R probably benign Het
Stab1 A T 14: 31,150,823 N1109K probably damaging Het
Sult3a2 A G 10: 33,781,977 S47P probably damaging Het
Tenm3 T C 8: 48,228,993 N2518S possibly damaging Het
Tex21 G T 12: 76,206,891 P416Q probably benign Het
Tex38 T C 4: 115,780,306 N100S probably benign Het
Thsd4 A C 9: 60,394,553 probably benign Het
Ticrr T C 7: 79,681,824 V723A probably damaging Het
Tmprss15 A G 16: 79,090,829 V30A probably benign Het
Uba3 A G 6: 97,185,337 probably benign Het
Ubr1 T C 2: 120,935,319 probably benign Het
Uchl4 A T 9: 64,235,731 I165L probably benign Het
Vmn2r112 A T 17: 22,603,144 T268S possibly damaging Het
Wfdc3 T C 2: 164,744,194 probably benign Het
Zfp282 T A 6: 47,892,867 L282Q probably damaging Het
Zfp422 A T 6: 116,626,784 C85S probably damaging Het
Zfp790 A T 7: 29,828,139 Q83L probably benign Het
Other mutations in Kntc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Kntc1 APN 5 123,790,159 (GRCm38) missense probably benign 0.05
IGL00514:Kntc1 APN 5 123,791,527 (GRCm38) missense probably benign 0.00
IGL01103:Kntc1 APN 5 123,764,220 (GRCm38) missense probably damaging 0.96
IGL01106:Kntc1 APN 5 123,762,603 (GRCm38) missense probably benign 0.01
IGL01357:Kntc1 APN 5 123,757,814 (GRCm38) missense probably damaging 1.00
IGL01367:Kntc1 APN 5 123,758,483 (GRCm38) missense probably damaging 1.00
IGL01538:Kntc1 APN 5 123,781,658 (GRCm38) missense probably damaging 1.00
IGL01546:Kntc1 APN 5 123,765,005 (GRCm38) missense probably benign 0.02
IGL01595:Kntc1 APN 5 123,803,695 (GRCm38) missense probably benign 0.30
IGL01725:Kntc1 APN 5 123,764,190 (GRCm38) missense probably benign
IGL01916:Kntc1 APN 5 123,801,913 (GRCm38) missense probably damaging 1.00
IGL01936:Kntc1 APN 5 123,811,376 (GRCm38) missense probably damaging 1.00
IGL01942:Kntc1 APN 5 123,778,267 (GRCm38) missense probably damaging 1.00
IGL01973:Kntc1 APN 5 123,765,958 (GRCm38) missense probably damaging 1.00
IGL01982:Kntc1 APN 5 123,809,096 (GRCm38) missense probably benign 0.12
IGL02145:Kntc1 APN 5 123,762,598 (GRCm38) missense possibly damaging 0.80
IGL02510:Kntc1 APN 5 123,819,062 (GRCm38) missense probably benign 0.03
IGL02611:Kntc1 APN 5 123,812,065 (GRCm38) missense probably damaging 1.00
IGL02669:Kntc1 APN 5 123,755,664 (GRCm38) splice site probably benign
IGL02737:Kntc1 APN 5 123,819,120 (GRCm38) missense probably benign 0.17
IGL02793:Kntc1 APN 5 123,778,277 (GRCm38) splice site probably null
IGL02809:Kntc1 APN 5 123,776,582 (GRCm38) missense probably damaging 1.00
IGL02860:Kntc1 APN 5 123,769,873 (GRCm38) missense possibly damaging 0.49
IGL02875:Kntc1 APN 5 123,778,277 (GRCm38) splice site probably null
IGL02931:Kntc1 APN 5 123,799,811 (GRCm38) missense probably damaging 1.00
IGL03169:Kntc1 APN 5 123,775,821 (GRCm38) missense possibly damaging 0.80
IGL03267:Kntc1 APN 5 123,758,480 (GRCm38) missense probably damaging 1.00
R0006:Kntc1 UTSW 5 123,789,138 (GRCm38) missense probably benign 0.19
R0006:Kntc1 UTSW 5 123,789,138 (GRCm38) missense probably benign 0.19
R0017:Kntc1 UTSW 5 123,780,981 (GRCm38) missense probably damaging 1.00
R0125:Kntc1 UTSW 5 123,765,057 (GRCm38) splice site probably benign
R0324:Kntc1 UTSW 5 123,778,112 (GRCm38) missense probably damaging 1.00
R0580:Kntc1 UTSW 5 123,803,669 (GRCm38) missense probably benign 0.00
R0608:Kntc1 UTSW 5 123,786,074 (GRCm38) missense probably damaging 0.98
R0725:Kntc1 UTSW 5 123,769,704 (GRCm38) missense possibly damaging 0.92
R0733:Kntc1 UTSW 5 123,790,916 (GRCm38) missense probably null
R0781:Kntc1 UTSW 5 123,799,902 (GRCm38) splice site probably benign
R0787:Kntc1 UTSW 5 123,796,104 (GRCm38) missense probably benign
R1250:Kntc1 UTSW 5 123,784,199 (GRCm38) missense possibly damaging 0.71
R1253:Kntc1 UTSW 5 123,810,862 (GRCm38) frame shift probably null
R1467:Kntc1 UTSW 5 123,786,984 (GRCm38) missense probably benign 0.04
R1467:Kntc1 UTSW 5 123,786,984 (GRCm38) missense probably benign 0.04
R1481:Kntc1 UTSW 5 123,778,275 (GRCm38) missense probably benign 0.00
R1624:Kntc1 UTSW 5 123,758,477 (GRCm38) missense possibly damaging 0.48
R1749:Kntc1 UTSW 5 123,789,099 (GRCm38) missense probably benign 0.00
R1993:Kntc1 UTSW 5 123,810,811 (GRCm38) critical splice acceptor site probably null
R1993:Kntc1 UTSW 5 123,759,099 (GRCm38) critical splice donor site probably null
R2071:Kntc1 UTSW 5 123,794,277 (GRCm38) splice site probably null
R2237:Kntc1 UTSW 5 123,803,670 (GRCm38) missense possibly damaging 0.50
R2239:Kntc1 UTSW 5 123,803,670 (GRCm38) missense possibly damaging 0.50
R2366:Kntc1 UTSW 5 123,781,192 (GRCm38) missense probably damaging 1.00
R2367:Kntc1 UTSW 5 123,781,192 (GRCm38) missense probably damaging 1.00
R2382:Kntc1 UTSW 5 123,760,348 (GRCm38) missense probably damaging 0.99
R2389:Kntc1 UTSW 5 123,781,192 (GRCm38) missense probably damaging 1.00
R2413:Kntc1 UTSW 5 123,764,149 (GRCm38) missense probably benign 0.01
R2442:Kntc1 UTSW 5 123,810,859 (GRCm38) missense probably damaging 1.00
R2504:Kntc1 UTSW 5 123,778,347 (GRCm38) nonsense probably null
R2943:Kntc1 UTSW 5 123,797,784 (GRCm38) missense possibly damaging 0.68
R3116:Kntc1 UTSW 5 123,802,058 (GRCm38) missense probably damaging 1.00
R4107:Kntc1 UTSW 5 123,762,598 (GRCm38) missense probably damaging 0.99
R4176:Kntc1 UTSW 5 123,776,617 (GRCm38) missense possibly damaging 0.76
R4275:Kntc1 UTSW 5 123,767,779 (GRCm38) missense probably damaging 1.00
R4440:Kntc1 UTSW 5 123,794,153 (GRCm38) missense probably damaging 1.00
R4575:Kntc1 UTSW 5 123,765,955 (GRCm38) missense probably damaging 1.00
R4576:Kntc1 UTSW 5 123,765,955 (GRCm38) missense probably damaging 1.00
R4578:Kntc1 UTSW 5 123,765,955 (GRCm38) missense probably damaging 1.00
R4612:Kntc1 UTSW 5 123,812,643 (GRCm38) missense probably damaging 1.00
R4704:Kntc1 UTSW 5 123,811,433 (GRCm38) missense probably damaging 0.96
R4720:Kntc1 UTSW 5 123,765,023 (GRCm38) missense possibly damaging 0.65
R4784:Kntc1 UTSW 5 123,816,762 (GRCm38) missense possibly damaging 0.89
R4785:Kntc1 UTSW 5 123,816,762 (GRCm38) missense possibly damaging 0.89
R4824:Kntc1 UTSW 5 123,790,133 (GRCm38) nonsense probably null
R4847:Kntc1 UTSW 5 123,802,274 (GRCm38) missense probably benign 0.18
R4849:Kntc1 UTSW 5 123,759,065 (GRCm38) missense probably benign 0.02
R4904:Kntc1 UTSW 5 123,778,333 (GRCm38) missense possibly damaging 0.47
R4922:Kntc1 UTSW 5 123,802,246 (GRCm38) missense probably damaging 0.99
R5080:Kntc1 UTSW 5 123,762,586 (GRCm38) missense possibly damaging 0.68
R5114:Kntc1 UTSW 5 123,781,055 (GRCm38) critical splice donor site probably null
R5171:Kntc1 UTSW 5 123,799,844 (GRCm38) missense probably benign 0.01
R5220:Kntc1 UTSW 5 123,812,097 (GRCm38) missense probably damaging 1.00
R5226:Kntc1 UTSW 5 123,794,172 (GRCm38) missense probably benign 0.09
R5278:Kntc1 UTSW 5 123,781,014 (GRCm38) missense probably damaging 1.00
R5329:Kntc1 UTSW 5 123,764,191 (GRCm38) missense probably benign 0.02
R5496:Kntc1 UTSW 5 123,784,182 (GRCm38) missense probably benign 0.00
R5503:Kntc1 UTSW 5 123,819,876 (GRCm38) missense possibly damaging 0.81
R5633:Kntc1 UTSW 5 123,819,057 (GRCm38) missense probably damaging 0.99
R5638:Kntc1 UTSW 5 123,818,475 (GRCm38) missense possibly damaging 0.65
R5697:Kntc1 UTSW 5 123,765,007 (GRCm38) missense probably benign 0.00
R5757:Kntc1 UTSW 5 123,807,309 (GRCm38) critical splice donor site probably null
R5773:Kntc1 UTSW 5 123,794,157 (GRCm38) missense probably damaging 1.00
R5940:Kntc1 UTSW 5 123,786,195 (GRCm38) missense probably benign 0.05
R6019:Kntc1 UTSW 5 123,762,516 (GRCm38) missense probably benign 0.03
R6230:Kntc1 UTSW 5 123,789,009 (GRCm38) splice site probably null
R6437:Kntc1 UTSW 5 123,769,691 (GRCm38) missense probably damaging 0.98
R6888:Kntc1 UTSW 5 123,811,310 (GRCm38) missense probably damaging 1.00
R6907:Kntc1 UTSW 5 123,801,825 (GRCm38) missense probably damaging 1.00
R7123:Kntc1 UTSW 5 123,781,726 (GRCm38) missense probably damaging 1.00
R7262:Kntc1 UTSW 5 123,786,973 (GRCm38) missense probably benign 0.18
R7381:Kntc1 UTSW 5 123,810,908 (GRCm38) missense probably benign 0.12
R7485:Kntc1 UTSW 5 123,786,956 (GRCm38) missense possibly damaging 0.79
R7512:Kntc1 UTSW 5 123,790,938 (GRCm38) missense probably damaging 1.00
R7581:Kntc1 UTSW 5 123,816,755 (GRCm38) missense probably benign 0.05
R7687:Kntc1 UTSW 5 123,759,089 (GRCm38) missense probably benign 0.01
R7798:Kntc1 UTSW 5 123,819,117 (GRCm38) missense possibly damaging 0.94
R7798:Kntc1 UTSW 5 123,786,294 (GRCm38) missense probably benign
R7871:Kntc1 UTSW 5 123,784,227 (GRCm38) missense probably damaging 1.00
R7876:Kntc1 UTSW 5 123,775,787 (GRCm38) missense probably damaging 1.00
R7947:Kntc1 UTSW 5 123,781,888 (GRCm38) missense unknown
R7997:Kntc1 UTSW 5 123,778,054 (GRCm38) missense probably damaging 0.96
R8231:Kntc1 UTSW 5 123,782,896 (GRCm38) missense possibly damaging 0.47
R8257:Kntc1 UTSW 5 123,758,523 (GRCm38) critical splice donor site probably null
R8345:Kntc1 UTSW 5 123,786,930 (GRCm38) missense probably benign 0.37
R8354:Kntc1 UTSW 5 123,778,267 (GRCm38) missense probably damaging 1.00
R8732:Kntc1 UTSW 5 123,790,117 (GRCm38) missense probably benign 0.00
R8754:Kntc1 UTSW 5 123,759,052 (GRCm38) missense probably benign 0.01
R8947:Kntc1 UTSW 5 123,786,978 (GRCm38) missense probably benign 0.01
R9041:Kntc1 UTSW 5 123,789,030 (GRCm38) missense probably benign 0.00
R9182:Kntc1 UTSW 5 123,802,292 (GRCm38) missense probably damaging 1.00
R9432:Kntc1 UTSW 5 123,787,049 (GRCm38) missense possibly damaging 0.93
R9460:Kntc1 UTSW 5 123,803,315 (GRCm38) nonsense probably null
R9468:Kntc1 UTSW 5 123,816,713 (GRCm38) missense probably damaging 1.00
R9643:Kntc1 UTSW 5 123,811,377 (GRCm38) missense probably damaging 1.00
R9646:Kntc1 UTSW 5 123,759,056 (GRCm38) missense probably benign 0.01
R9721:Kntc1 UTSW 5 123,801,885 (GRCm38) missense probably benign 0.01
R9789:Kntc1 UTSW 5 123,760,643 (GRCm38) missense possibly damaging 0.87
X0027:Kntc1 UTSW 5 123,810,929 (GRCm38) missense probably benign 0.00
X0065:Kntc1 UTSW 5 123,778,037 (GRCm38) nonsense probably null
X0067:Kntc1 UTSW 5 123,778,074 (GRCm38) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TCTGGAGAAGACTGGCCCTTGTT -3'
(R):5'- GCAACTGTGCTCCCAAATACTGACT -3'

Sequencing Primer
(F):5'- atgtggaggtcaggacaatg -3'
(R):5'- CTTGAGCCAATTCTTGCTGGAAAG -3'
Posted On 2014-04-13