Mutagenetix > Incidental Mutation

Incidental Mutation 'R5171:Kntc1'

398701

Institutional Source

Beutler Lab

Gene Symbol

Kntc1

Ensembl Gene

ENSMUSG00000029414

Gene Name

kinetochore associated 1

Synonyms

MMRRC Submission

042751-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R5171 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123749716-123821593 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123799844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1535 (V1535A)

Ref Sequence

ENSEMBL: ENSMUSP00000031366 (fasta)

Gene Model

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

AlphaFold

Q8C3Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000031366
AA Change: V1535A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: V1535A

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

Meta Mutation Damage Score

0.1776

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (52/52)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	A	1: 130,742,847	Q269K	probably benign	Het
Acad9	T	A	3: 36,074,398	I136N	possibly damaging	Het
Adtrp	A	G	13: 41,777,563	S183P	probably damaging	Het
Atp11b	C	T	3: 35,832,937	T690I	probably damaging	Het
Bcl2l12	G	A	7: 44,991,394		probably benign	Het
Btnl7-ps	T	A	17: 34,533,529		noncoding transcript	Het
Ccl12	T	C	11: 82,102,634	C33R	probably damaging	Het
Cdc25a	T	A	9: 109,877,161	S57R	probably benign	Het
Coro2a	T	A	4: 46,542,372		probably benign	Het
Cpne6	T	C	14: 55,512,148	V55A	possibly damaging	Het
Ddn	A	G	15: 98,806,326	S362P	possibly damaging	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Donson	A	G	16: 91,681,293	V258A	possibly damaging	Het
Gm3336	G	A	8: 70,721,875	V163I	probably benign	Het
Gm8765	A	T	13: 50,700,378	T91S	possibly damaging	Het
Gper1	C	T	5: 139,426,658	R253C	probably damaging	Het
Gpsm1	T	A	2: 26,327,464		probably benign	Het
Hip1	A	G	5: 135,440,302	S251P	probably damaging	Het
Ifi214	A	G	1: 173,526,634	S157P	possibly damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Mbd3l1	A	G	9: 18,485,134	N185S	probably benign	Het
Mnx1	T	C	5: 29,474,853	Q252R	unknown	Het
Mroh3	A	T	1: 136,191,656	L463Q	possibly damaging	Het
Myom1	T	C	17: 71,099,972	V1030A	possibly damaging	Het
Olfr1134	T	G	2: 87,656,544	I126L	possibly damaging	Het
Olfr411	T	C	11: 74,346,814	T257A	probably benign	Het
Olfr988	T	C	2: 85,353,770	D52G	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Ranbp17	A	G	11: 33,217,419	Y1015H	probably benign	Het
Rasal1	C	T	5: 120,663,764	T256I	probably benign	Het
Rexo5	T	A	7: 119,823,779	I278N	probably damaging	Het
Rims2	T	A	15: 39,437,103	S77T	probably damaging	Het
Sdk2	C	T	11: 113,850,982	A804T	probably benign	Het
Slc24a2	T	A	4: 86,996,634	I589F	probably benign	Het
Slc25a38	T	A	9: 120,122,115	I217K	probably benign	Het
Slc5a7	T	C	17: 54,276,676	T529A	probably benign	Het
Spata22	T	A	11: 73,336,208	S83T	probably damaging	Het
Stac2	A	T	11: 98,043,498	C127S	possibly damaging	Het
Tep1	T	C	14: 50,824,802	H2531R	probably benign	Het
Tmem151a	G	T	19: 5,082,033	R382S	probably damaging	Het
Trim60	T	C	8: 65,000,524	T358A	probably benign	Het
Unc13c	T	A	9: 73,757,954	M1048L	probably benign	Het
Usp29	T	C	7: 6,962,075	S306P	probably damaging	Het
Zfp26	T	C	9: 20,444,907	K35R	probably benign	Het
Zfp462	T	A	4: 55,016,986		probably null	Het

Other mutations in Kntc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Kntc1	APN	5	123790159	missense	probably benign	0.05
IGL00514:Kntc1	APN	5	123791527	missense	probably benign	0.00
IGL01103:Kntc1	APN	5	123764220	missense	probably damaging	0.96
IGL01106:Kntc1	APN	5	123762603	missense	probably benign	0.01
IGL01357:Kntc1	APN	5	123757814	missense	probably damaging	1.00
IGL01367:Kntc1	APN	5	123758483	missense	probably damaging	1.00
IGL01538:Kntc1	APN	5	123781658	missense	probably damaging	1.00
IGL01546:Kntc1	APN	5	123765005	missense	probably benign	0.02
IGL01595:Kntc1	APN	5	123803695	missense	probably benign	0.30
IGL01725:Kntc1	APN	5	123764190	missense	probably benign
IGL01916:Kntc1	APN	5	123801913	missense	probably damaging	1.00
IGL01936:Kntc1	APN	5	123811376	missense	probably damaging	1.00
IGL01942:Kntc1	APN	5	123778267	missense	probably damaging	1.00
IGL01973:Kntc1	APN	5	123765958	missense	probably damaging	1.00
IGL01982:Kntc1	APN	5	123809096	missense	probably benign	0.12
IGL02145:Kntc1	APN	5	123762598	missense	possibly damaging	0.80
IGL02510:Kntc1	APN	5	123819062	missense	probably benign	0.03
IGL02611:Kntc1	APN	5	123812065	missense	probably damaging	1.00
IGL02669:Kntc1	APN	5	123755664	splice site	probably benign
IGL02737:Kntc1	APN	5	123819120	missense	probably benign	0.17
IGL02793:Kntc1	APN	5	123778277	splice site	probably null
IGL02809:Kntc1	APN	5	123776582	missense	probably damaging	1.00
IGL02860:Kntc1	APN	5	123769873	missense	possibly damaging	0.49
IGL02875:Kntc1	APN	5	123778277	splice site	probably null
IGL02931:Kntc1	APN	5	123799811	missense	probably damaging	1.00
IGL03169:Kntc1	APN	5	123775821	missense	possibly damaging	0.80
IGL03267:Kntc1	APN	5	123758480	missense	probably damaging	1.00
R0006:Kntc1	UTSW	5	123789138	missense	probably benign	0.19
R0006:Kntc1	UTSW	5	123789138	missense	probably benign	0.19
R0017:Kntc1	UTSW	5	123780981	missense	probably damaging	1.00
R0125:Kntc1	UTSW	5	123765057	splice site	probably benign
R0324:Kntc1	UTSW	5	123778112	missense	probably damaging	1.00
R0580:Kntc1	UTSW	5	123803669	missense	probably benign	0.00
R0608:Kntc1	UTSW	5	123786074	missense	probably damaging	0.98
R0725:Kntc1	UTSW	5	123769704	missense	possibly damaging	0.92
R0733:Kntc1	UTSW	5	123790916	missense	probably null
R0781:Kntc1	UTSW	5	123799902	splice site	probably benign
R0787:Kntc1	UTSW	5	123796104	missense	probably benign
R1250:Kntc1	UTSW	5	123784199	missense	possibly damaging	0.71
R1253:Kntc1	UTSW	5	123810862	frame shift	probably null
R1467:Kntc1	UTSW	5	123786984	missense	probably benign	0.04
R1467:Kntc1	UTSW	5	123786984	missense	probably benign	0.04
R1481:Kntc1	UTSW	5	123778275	missense	probably benign	0.00
R1572:Kntc1	UTSW	5	123772113	missense	probably damaging	0.99
R1624:Kntc1	UTSW	5	123758477	missense	possibly damaging	0.48
R1749:Kntc1	UTSW	5	123789099	missense	probably benign	0.00
R1993:Kntc1	UTSW	5	123759099	critical splice donor site	probably null
R1993:Kntc1	UTSW	5	123810811	critical splice acceptor site	probably null
R2071:Kntc1	UTSW	5	123794277	splice site	probably null
R2237:Kntc1	UTSW	5	123803670	missense	possibly damaging	0.50
R2239:Kntc1	UTSW	5	123803670	missense	possibly damaging	0.50
R2366:Kntc1	UTSW	5	123781192	missense	probably damaging	1.00
R2367:Kntc1	UTSW	5	123781192	missense	probably damaging	1.00
R2382:Kntc1	UTSW	5	123760348	missense	probably damaging	0.99
R2389:Kntc1	UTSW	5	123781192	missense	probably damaging	1.00
R2413:Kntc1	UTSW	5	123764149	missense	probably benign	0.01
R2442:Kntc1	UTSW	5	123810859	missense	probably damaging	1.00
R2504:Kntc1	UTSW	5	123778347	nonsense	probably null
R2943:Kntc1	UTSW	5	123797784	missense	possibly damaging	0.68
R3116:Kntc1	UTSW	5	123802058	missense	probably damaging	1.00
R4107:Kntc1	UTSW	5	123762598	missense	probably damaging	0.99
R4176:Kntc1	UTSW	5	123776617	missense	possibly damaging	0.76
R4275:Kntc1	UTSW	5	123767779	missense	probably damaging	1.00
R4440:Kntc1	UTSW	5	123794153	missense	probably damaging	1.00
R4575:Kntc1	UTSW	5	123765955	missense	probably damaging	1.00
R4576:Kntc1	UTSW	5	123765955	missense	probably damaging	1.00
R4578:Kntc1	UTSW	5	123765955	missense	probably damaging	1.00
R4612:Kntc1	UTSW	5	123812643	missense	probably damaging	1.00
R4704:Kntc1	UTSW	5	123811433	missense	probably damaging	0.96
R4720:Kntc1	UTSW	5	123765023	missense	possibly damaging	0.65
R4784:Kntc1	UTSW	5	123816762	missense	possibly damaging	0.89
R4785:Kntc1	UTSW	5	123816762	missense	possibly damaging	0.89
R4824:Kntc1	UTSW	5	123790133	nonsense	probably null
R4847:Kntc1	UTSW	5	123802274	missense	probably benign	0.18
R4849:Kntc1	UTSW	5	123759065	missense	probably benign	0.02
R4904:Kntc1	UTSW	5	123778333	missense	possibly damaging	0.47
R4922:Kntc1	UTSW	5	123802246	missense	probably damaging	0.99
R5080:Kntc1	UTSW	5	123762586	missense	possibly damaging	0.68
R5114:Kntc1	UTSW	5	123781055	critical splice donor site	probably null
R5220:Kntc1	UTSW	5	123812097	missense	probably damaging	1.00
R5226:Kntc1	UTSW	5	123794172	missense	probably benign	0.09
R5278:Kntc1	UTSW	5	123781014	missense	probably damaging	1.00
R5329:Kntc1	UTSW	5	123764191	missense	probably benign	0.02
R5496:Kntc1	UTSW	5	123784182	missense	probably benign	0.00
R5503:Kntc1	UTSW	5	123819876	missense	possibly damaging	0.81
R5633:Kntc1	UTSW	5	123819057	missense	probably damaging	0.99
R5638:Kntc1	UTSW	5	123818475	missense	possibly damaging	0.65
R5697:Kntc1	UTSW	5	123765007	missense	probably benign	0.00
R5757:Kntc1	UTSW	5	123807309	critical splice donor site	probably null
R5773:Kntc1	UTSW	5	123794157	missense	probably damaging	1.00
R5940:Kntc1	UTSW	5	123786195	missense	probably benign	0.05
R6019:Kntc1	UTSW	5	123762516	missense	probably benign	0.03
R6230:Kntc1	UTSW	5	123789009	splice site	probably null
R6437:Kntc1	UTSW	5	123769691	missense	probably damaging	0.98
R6888:Kntc1	UTSW	5	123811310	missense	probably damaging	1.00
R6907:Kntc1	UTSW	5	123801825	missense	probably damaging	1.00
R7123:Kntc1	UTSW	5	123781726	missense	probably damaging	1.00
R7262:Kntc1	UTSW	5	123786973	missense	probably benign	0.18
R7381:Kntc1	UTSW	5	123810908	missense	probably benign	0.12
R7485:Kntc1	UTSW	5	123786956	missense	possibly damaging	0.79
R7512:Kntc1	UTSW	5	123790938	missense	probably damaging	1.00
R7581:Kntc1	UTSW	5	123816755	missense	probably benign	0.05
R7687:Kntc1	UTSW	5	123759089	missense	probably benign	0.01
R7798:Kntc1	UTSW	5	123786294	missense	probably benign
R7798:Kntc1	UTSW	5	123819117	missense	possibly damaging	0.94
R7871:Kntc1	UTSW	5	123784227	missense	probably damaging	1.00
R7876:Kntc1	UTSW	5	123775787	missense	probably damaging	1.00
R7947:Kntc1	UTSW	5	123781888	missense	unknown
R7997:Kntc1	UTSW	5	123778054	missense	probably damaging	0.96
R8231:Kntc1	UTSW	5	123782896	missense	possibly damaging	0.47
R8257:Kntc1	UTSW	5	123758523	critical splice donor site	probably null
R8345:Kntc1	UTSW	5	123786930	missense	probably benign	0.37
R8354:Kntc1	UTSW	5	123778267	missense	probably damaging	1.00
R8732:Kntc1	UTSW	5	123790117	missense	probably benign	0.00
R8754:Kntc1	UTSW	5	123759052	missense	probably benign	0.01
R8947:Kntc1	UTSW	5	123786978	missense	probably benign	0.01
R9041:Kntc1	UTSW	5	123789030	missense	probably benign	0.00
R9182:Kntc1	UTSW	5	123802292	missense	probably damaging	1.00
R9432:Kntc1	UTSW	5	123787049	missense	possibly damaging	0.93
R9460:Kntc1	UTSW	5	123803315	nonsense	probably null
R9468:Kntc1	UTSW	5	123816713	missense	probably damaging	1.00
R9643:Kntc1	UTSW	5	123811377	missense	probably damaging	1.00
R9646:Kntc1	UTSW	5	123759056	missense	probably benign	0.01
R9721:Kntc1	UTSW	5	123801885	missense	probably benign	0.01
R9789:Kntc1	UTSW	5	123760643	missense	possibly damaging	0.87
X0027:Kntc1	UTSW	5	123810929	missense	probably benign	0.00
X0065:Kntc1	UTSW	5	123778037	nonsense	probably null
X0067:Kntc1	UTSW	5	123778074	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCGAGAGACATCTGCCTTCC -3'
(R):5'- ACTAAGTTTAGAATCTAAAGGGAGGTC -3'

Sequencing Primer
(F):5'- TTCAGAGCAGAGAACGCTCCTG -3'
(R):5'- GAGGTCAAAGAACATGCACAATATTC -3'

Posted On

2016-07-06