Mutagenetix > Incidental Mutation

Incidental Mutation 'R8732:Kntc1'

662795

Institutional Source

Beutler Lab

Gene Symbol

Kntc1

Ensembl Gene

ENSMUSG00000029414

Gene Name

kinetochore associated 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R8732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123749716-123821593 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123790117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1226 (S1226G)

Ref Sequence

ENSEMBL: ENSMUSP00000031366 (fasta)

Gene Model

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

AlphaFold

Q8C3Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000031366
AA Change: S1226G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: S1226G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	A	T	13: 41,828,146	N82K	probably damaging	Het
Ankrd36	T	A	11: 5,628,906	S57T	possibly damaging	Het
Aoc3	A	G	11: 101,331,817	N293S	probably benign	Het
Aup1	A	T	6: 83,056,621	H302L	probably damaging	Het
Bptf	G	A	11: 107,040,380	R277W	probably damaging	Het
Cald1	A	G	6: 34,758,011	I346V	unknown	Het
Cd44	T	C	2: 102,834,300	T519A	possibly damaging	Het
Cela1	A	G	15: 100,682,885		probably null	Het
Ces2g	T	C	8: 104,962,563	V57A	possibly damaging	Het
Cpt1b	G	C	15: 89,424,425	T100S	probably benign	Het
D6Wsu163e	A	T	6: 126,955,896	I361F	possibly damaging	Het
Dock5	A	T	14: 67,846,000	D153E	possibly damaging	Het
Dync2h1	G	T	9: 7,168,326	R430S	probably damaging	Het
Eml5	C	T	12: 98,815,959	G1405R	probably damaging	Het
Ergic2	G	A	6: 148,201,477	A91V	probably damaging	Het
Fancl	A	T	11: 26,469,754	I336L	probably benign	Het
Fpr3	A	G	17: 17,970,961	T165A	possibly damaging	Het
Gm11639	T	A	11: 104,804,274	F1730L	probably benign	Het
Gon4l	A	G	3: 88,899,984	I1662V	possibly damaging	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Hdac4	C	A	1: 91,947,517	A911S	probably damaging	Het
Ighd	T	C	12: 113,414,563	N139D		Het
Klhl22	T	A	16: 17,771,826	L117Q	probably damaging	Het
Lama5	A	T	2: 180,186,688	C2126S	probably damaging	Het
Ldlr	A	G	9: 21,739,689	I468V	probably benign	Het
Lmtk3	G	A	7: 45,798,288	A1253T	unknown	Het
Lta	T	A	17: 35,204,069	N93Y	probably damaging	Het
Macf1	A	T	4: 123,509,770		probably null	Het
Mink1	A	G	11: 70,610,076		probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Ntpcr	A	G	8: 125,745,335	M132V	probably benign	Het
Olfr298	A	G	7: 86,488,853	S233P	probably damaging	Het
Olfr664	A	G	7: 104,733,908	M152T	probably benign	Het
Olfr851	T	C	9: 19,496,802	I18T	probably benign	Het
Padi2	A	G	4: 140,933,279	I357V	probably benign	Het
Pax7	G	T	4: 139,779,609	H372Q	probably benign	Het
Paxip1	A	G	5: 27,744,543	Y966H	probably damaging	Het
Pde4b	A	C	4: 102,555,625	D199A	probably null	Het
Pkd1l2	T	C	8: 117,065,572	N494D	probably benign	Het
Prdm2	G	T	4: 143,136,010	Q237K	probably benign	Het
Prune2	T	C	19: 17,120,405	L1091P	probably damaging	Het
Rab9	C	T	X: 166,457,758	D186N	probably benign	Het
Rassf5	A	G	1: 131,178,527	*414Q	probably null	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rrp9	C	A	9: 106,483,189	T238K	probably benign	Het
Slc44a2	A	G	9: 21,348,586	D630G	probably benign	Het
Slc7a9	A	G	7: 35,457,018	D295G	probably benign	Het
Slco3a1	A	T	7: 74,284,306	M706K	possibly damaging	Het
Spag9	T	C	11: 94,071,688		probably null	Het
Stam2	A	T	2: 52,700,168	Y394N	probably damaging	Het
Stard9	T	C	2: 120,679,961	L341P	probably damaging	Het
Steap3	A	T	1: 120,243,894	H160Q	probably damaging	Het
Stxbp5l	A	T	16: 37,241,447	C334S	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem74	A	T	15: 43,868,060		probably benign	Het
Ttn	T	C	2: 76,707,136	K34816R	possibly damaging	Het
Ttn	T	A	2: 76,797,391	N14736I	probably damaging	Het
Vmn1r183	A	G	7: 24,055,465	Q231R	possibly damaging	Het
Vmn1r235	A	G	17: 21,262,177	T255A	probably damaging	Het
Wasl	A	T	6: 24,619,210	I437K	unknown	Het
Wdr34	T	A	2: 30,032,208	T414S	possibly damaging	Het
Ywhae	A	G	11: 75,751,943	N43D	probably damaging	Het
Zfp583	A	T	7: 6,317,211	Y267*	probably null	Het
Zfp608	C	T	18: 54,988,000	G172R	probably benign	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
R5171:Kntc1	UTSW	5	123799844	missense	probably benign	0.01
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
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'- AGATAGGACTTGCTATGAACTTGC -3'
(R):5'- GAGGCTGGATTTAGACCACAAG -3'

Sequencing Primer
(F):5'- ATCTGTCACCAAAGTGCTGG -3'
(R):5'- GCTGGATTTAGACCACAAGATAATG -3'

Posted On

2021-03-08