Mutagenetix > Incidental Mutation

Incidental Mutation 'R0017:Kntc1'

19344

Institutional Source

Beutler Lab

Gene Symbol

Kntc1

Ensembl Gene

ENSMUSG00000029414

Gene Name

kinetochore associated 1

Synonyms

jgl

MMRRC Submission

038312-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R0017 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

123887779-123959656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123919044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 805 (Y805C)

Ref Sequence

ENSEMBL: ENSMUSP00000031366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031366]

AlphaFold

Q8C3Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000031366
AA Change: Y805C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: Y805C

Domain	Start	End	E-Value	Type
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

0.3941

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.2%

Validation Efficiency

96% (76/79)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,226,938 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,242,775 (GRCm39)	I1546N	probably damaging	Het
Actrt3	A	T	3: 30,652,422 (GRCm39)	M224K	probably benign	Het
Adgrv1	T	C	13: 81,727,065 (GRCm39)	N429S	probably benign	Het
Appbp2	A	C	11: 85,105,129 (GRCm39)	C146G	possibly damaging	Het
Cabp2	A	C	19: 4,136,242 (GRCm39)	D83A	possibly damaging	Het
Ccl1	A	G	11: 82,068,843 (GRCm39)		probably null	Het
Cdca8	T	C	4: 124,814,168 (GRCm39)	T208A	probably benign	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Dcdc5	G	A	2: 106,187,541 (GRCm39)		noncoding transcript	Het
Efr3b	C	A	12: 4,043,003 (GRCm39)	C89F	probably damaging	Het
Enpp3	C	T	10: 24,675,051 (GRCm39)		probably null	Het
Ep400	A	T	5: 110,821,395 (GRCm39)	V2467E	probably damaging	Het
Ermap	T	C	4: 119,037,145 (GRCm39)		probably benign	Het
Fig4	A	G	10: 41,149,003 (GRCm39)	Y150H	possibly damaging	Het
Fsip2	G	A	2: 82,822,416 (GRCm39)	V6050M	probably damaging	Het
Gnb1l	T	C	16: 18,359,810 (GRCm39)	W72R	probably damaging	Het
Gpld1	A	G	13: 25,174,101 (GRCm39)	D842G	probably damaging	Het
Hmgcr	A	G	13: 96,788,597 (GRCm39)		probably benign	Het
Hrc	A	G	7: 44,985,794 (GRCm39)	H315R	possibly damaging	Het
Ifit2	A	T	19: 34,550,973 (GRCm39)	N171I	probably damaging	Het
Ipo11	T	A	13: 107,023,238 (GRCm39)	I416L	probably benign	Het
Kcnab1	G	A	3: 65,264,527 (GRCm39)	V259M	probably damaging	Het
Kcng4	T	C	8: 120,360,259 (GRCm39)	Y39C	probably damaging	Het
Kif5c	A	G	2: 49,622,725 (GRCm39)	T526A	probably benign	Het
Mal	A	G	2: 127,482,227 (GRCm39)	S59P	probably damaging	Het
Myh15	A	G	16: 48,983,423 (GRCm39)	N1513D	probably damaging	Het
Ncoa2	A	G	1: 13,244,976 (GRCm39)	L574P	probably damaging	Het
Nmd3	A	G	3: 69,643,425 (GRCm39)		probably null	Het
Nucb2	A	G	7: 116,132,386 (GRCm39)	D331G	probably benign	Het
Nwd1	T	C	8: 73,436,053 (GRCm39)		probably benign	Het
Nynrin	T	C	14: 56,109,852 (GRCm39)	F1653S	probably damaging	Het
Or4a80	A	C	2: 89,582,365 (GRCm39)	I269S	possibly damaging	Het
Or7c19	T	A	8: 85,957,706 (GRCm39)	I194N	probably benign	Het
Or8b12b	T	G	9: 37,684,274 (GRCm39)	F106L	probably benign	Het
Pfdn6	T	C	17: 34,158,538 (GRCm39)	R79G	probably damaging	Het
Pkd1	G	T	17: 24,797,513 (GRCm39)		probably null	Het
Pramel4	T	G	4: 143,794,914 (GRCm39)	C434G	probably benign	Het
Ptpn13	T	C	5: 103,634,638 (GRCm39)		probably null	Het
Ptpro	T	C	6: 137,393,825 (GRCm39)	V831A	probably benign	Het
Rabl6	A	T	2: 25,492,579 (GRCm39)		probably benign	Het
Reg3b	T	A	6: 78,349,844 (GRCm39)	M128K	possibly damaging	Het
Rif1	A	G	2: 52,006,686 (GRCm39)	T2207A	probably benign	Het
Rpa1	A	C	11: 75,205,687 (GRCm39)	N223K	probably null	Het
Rras2	T	C	7: 113,647,490 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,746,967 (GRCm39)	E3760V	probably damaging	Het
Scyl3	T	A	1: 163,767,538 (GRCm39)	I204N	possibly damaging	Het
Serpinb9h	A	C	13: 33,588,494 (GRCm39)	I360L	probably damaging	Het
Slc16a12	A	G	19: 34,650,098 (GRCm39)		probably benign	Het
Slc22a1	A	G	17: 12,878,646 (GRCm39)	F356L	probably damaging	Het
Slc22a29	A	G	19: 8,195,630 (GRCm39)		probably benign	Het
Slc45a1	C	A	4: 150,714,023 (GRCm39)	D741Y	possibly damaging	Het
Slco1a5	A	T	6: 142,182,061 (GRCm39)		probably benign	Het
Smg5	G	T	3: 88,258,412 (GRCm39)	R461L	probably damaging	Het
Snrk	T	C	9: 121,995,306 (GRCm39)	S362P	probably damaging	Het
Spata31d1b	A	G	13: 59,863,883 (GRCm39)	S344G	probably benign	Het
Sync	G	A	4: 129,187,537 (GRCm39)	V190M	probably damaging	Het
Taf5l	T	C	8: 124,730,383 (GRCm39)	Y67C	probably damaging	Het
Tbkbp1	A	G	11: 97,037,115 (GRCm39)		probably benign	Het
Tshr	A	T	12: 91,504,660 (GRCm39)	I533F	possibly damaging	Het
Tsn	T	C	1: 118,228,589 (GRCm39)	D211G	probably damaging	Het
Ttn	G	A	2: 76,621,988 (GRCm39)	T15518I	probably benign	Het
Unc13c	T	C	9: 73,600,583 (GRCm39)	D1387G	probably benign	Het
Vapb	A	G	2: 173,613,397 (GRCm39)	T99A	probably benign	Het
Vmn2r127	A	G	17: 19,373,879 (GRCm39)		noncoding transcript	Het
Zfp280d	A	T	9: 72,246,292 (GRCm39)		probably null	Het

Other mutations in Kntc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGTTGACCATAGGAGGAAGCGCAT -3'
(R):5'- ACACTGGACCTACGATTATGGGGC -3'

Sequencing Primer
(F):5'- atgaaacgctctCAGTCTCC -3'
(R):5'- actgactcctgtgtttgcc -3'

Posted On

2013-04-11