Mutagenetix > Incidental Mutation

Incidental Mutation 'R0725:Kntc1'

262026

Institutional Source

Beutler Lab

Gene Symbol

Kntc1

Ensembl Gene

ENSMUSG00000029414

Gene Name

kinetochore associated 1

Synonyms

jgl

MMRRC Submission

038907-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R0725 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

123887779-123959656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123907767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 456 (V456A)

Ref Sequence

ENSEMBL: ENSMUSP00000031366 (fasta)

Gene Model

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

AlphaFold

Q8C3Y4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031366
AA Change: V456A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: V456A

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

Meta Mutation Damage Score

0.1983

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

100% (70/70)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asph	C	T	4: 9,542,275 (GRCm39)	D305N	probably damaging	Het
Atp13a3	T	C	16: 30,170,205 (GRCm39)	K327R	probably damaging	Het
Cacna1s	T	C	1: 136,026,264 (GRCm39)		probably benign	Het
Ccnk	T	C	12: 108,161,834 (GRCm39)		probably benign	Het
Cep55	T	C	19: 38,048,622 (GRCm39)	S93P	possibly damaging	Het
Cfap300	A	T	9: 8,027,144 (GRCm39)	D131E	probably damaging	Het
Cfh	A	G	1: 140,085,081 (GRCm39)		probably benign	Het
Clptm1l	A	G	13: 73,754,462 (GRCm39)	T129A	probably benign	Het
Cntnap5a	A	G	1: 116,220,206 (GRCm39)	E672G	probably benign	Het
Cpped1	C	A	16: 11,646,314 (GRCm39)	W170L	probably damaging	Het
Crygb	T	C	1: 65,121,100 (GRCm39)	I76V	probably benign	Het
Cyp3a25	A	G	5: 145,931,746 (GRCm39)	S121P	probably damaging	Het
Cyp4b1	T	C	4: 115,484,024 (GRCm39)	D395G	probably damaging	Het
Dll4	T	C	2: 119,163,170 (GRCm39)	V597A	probably damaging	Het
Dock7	T	C	4: 98,833,528 (GRCm39)	D1891G	probably damaging	Het
Dsel	T	C	1: 111,787,682 (GRCm39)	D951G	possibly damaging	Het
Dync2h1	C	A	9: 7,015,497 (GRCm39)	V3603F	possibly damaging	Het
Fam167b	C	A	4: 129,472,078 (GRCm39)	A31S	probably damaging	Het
Fgfrl1	T	A	5: 108,852,539 (GRCm39)	I25N	probably damaging	Het
Gzf1	C	T	2: 148,526,569 (GRCm39)	R347*	probably null	Het
Heatr5b	T	A	17: 79,103,825 (GRCm39)	I1117F	probably benign	Het
Macc1	C	A	12: 119,411,251 (GRCm39)	S673*	probably null	Het
Mpp4	T	C	1: 59,160,581 (GRCm39)	E574G	probably damaging	Het
Muc20	C	T	16: 32,613,858 (GRCm39)	M506I	probably benign	Het
Ncbp1	A	G	4: 46,152,056 (GRCm39)	T218A	probably benign	Het
Nfxl1	A	T	5: 72,716,473 (GRCm39)	V46E	probably benign	Het
Nfyc	G	T	4: 120,625,931 (GRCm39)		probably benign	Het
Niban1	A	G	1: 151,581,766 (GRCm39)	E454G	probably benign	Het
Or51f5	T	A	7: 102,423,739 (GRCm39)	S3T	probably benign	Het
Or8g55	A	T	9: 39,784,643 (GRCm39)	Q24L	probably damaging	Het
Osbpl8	T	C	10: 111,122,101 (GRCm39)	F681S	possibly damaging	Het
Pcm1	G	C	8: 41,740,848 (GRCm39)	E1031D	probably damaging	Het
Pdcd11	A	G	19: 47,115,730 (GRCm39)	E1486G	probably benign	Het
Pex12	G	T	11: 83,188,860 (GRCm39)	A45E	probably damaging	Het
Pheta1	T	A	5: 121,991,314 (GRCm39)	H225Q	probably benign	Het
Pigm	A	G	1: 172,204,384 (GRCm39)	D40G	probably damaging	Het
Pkp1	G	T	1: 135,808,478 (GRCm39)	N496K	probably benign	Het
Psmc4	T	C	7: 27,748,287 (GRCm39)	I54V	probably benign	Het
Rbm33	T	C	5: 28,599,481 (GRCm39)	V951A	unknown	Het
Selenbp2	G	T	3: 94,604,809 (GRCm39)		probably benign	Het
Slc3a1	G	A	17: 85,368,263 (GRCm39)	W510*	probably null	Het
Stx12	A	C	4: 132,584,701 (GRCm39)		probably benign	Het
Tas2r125	G	T	6: 132,887,085 (GRCm39)	D158Y	probably benign	Het
Tchp	C	A	5: 114,857,682 (GRCm39)	Q392K	probably benign	Het
Tmed11	T	A	5: 108,926,855 (GRCm39)	D139V	probably damaging	Het
Ttn	C	T	2: 76,578,654 (GRCm39)	V24080M	probably damaging	Het
Ush2a	G	A	1: 188,683,722 (GRCm39)	G4967D	probably damaging	Het
Vezf1	T	C	11: 87,964,156 (GRCm39)	S103P	probably benign	Het
Xpnpep3	T	C	15: 81,315,043 (GRCm39)	S248P	probably damaging	Het
Yipf2	G	C	9: 21,503,519 (GRCm39)		probably null	Het
Zfp110	A	T	7: 12,570,290 (GRCm39)	Q39L	possibly damaging	Het
Zfp287	A	T	11: 62,605,039 (GRCm39)	C623S	probably damaging	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
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
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'- AGGCCGGATTTTACTGACTTGCTTATC -3'
(R):5'- CATCGTCCTGTTGGAAATACACCAGAC -3'

Sequencing Primer
(F):5'- tttttttctttgccaagctcttac -3'
(R):5'- CAGACAAAGGCAAGTTAACACTATTG -3'

Posted On

2015-02-04