Mutagenetix > Incidental Mutations

Incidental Mutation 'R5329:Kntc1'

422212

Institutional Source

Beutler Lab

Gene Symbol

Kntc1

Ensembl Gene

ENSMUSG00000029414

Gene Name

kinetochore associated 1

Synonyms

MMRRC Submission

042911-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R5329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123749716-123821593 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123764191 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 299 (V299D)

Ref Sequence

ENSEMBL: ENSMUSP00000031366 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031366
AA Change: V299D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: V299D

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (61/62)

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
A430005L14Rik	G	A	4: 153,959,827	V32I	probably benign	Het
Abcg4	A	T	9: 44,279,545	M19K	probably benign	Het
Acsm1	A	G	7: 119,656,051	T392A	probably benign	Het
Adam19	A	T	11: 46,125,026	I338F	probably damaging	Het
Adamdec1	C	T	14: 68,570,163	M349I	probably damaging	Het
Arhgef11	T	A	3: 87,679,752		probably benign	Het
Bptf	T	C	11: 107,073,295	D1628G	probably benign	Het
Camk2d	C	T	3: 126,597,482	Q15*	probably null	Het
Camk2g	T	G	14: 20,793,931	D12A	possibly damaging	Het
Cgn	T	C	3: 94,779,990	M1V	probably null	Het
Clec16a	G	A	16: 10,731,679	C872Y	probably damaging	Het
Dcbld1	C	A	10: 52,284,257		probably benign	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Espl1	T	A	15: 102,312,518	L903Q	probably damaging	Het
Gm11639	T	G	11: 104,753,806		probably null	Het
Gm5117	T	A	8: 31,737,882		noncoding transcript	Het
Gm5150	T	C	3: 15,963,424	T228A	probably benign	Het
Gm5435	A	T	12: 82,496,476		noncoding transcript	Het
Gpr156	T	A	16: 38,005,448	C676S	probably benign	Het
Gstt3	C	T	10: 75,774,851	E230K	possibly damaging	Het
Jarid2	A	G	13: 44,906,271	I660V	possibly damaging	Het
Kif13a	A	G	13: 46,775,401		probably null	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lipk	T	A	19: 34,020,213		probably null	Het
Loxhd1	T	C	18: 77,332,682	L334P	probably damaging	Het
Macc1	T	A	12: 119,446,477	Y327N	probably damaging	Het
Man2a2	G	A	7: 80,361,128	S705L	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897	I251V	possibly damaging	Het
Ncam2	A	T	16: 81,434,819	Q57L	probably damaging	Het
Nedd1	T	C	10: 92,686,240	E645G	probably damaging	Het
Nfatc1	A	T	18: 80,708,117	M1K	probably null	Het
Nlrp9b	A	T	7: 20,023,991	R384S	probably damaging	Het
Nrxn3	A	G	12: 89,813,584	H62R	possibly damaging	Het
Olfr1097	A	G	2: 86,890,620	L185S	probably damaging	Het
Olfr1233	T	A	2: 89,339,459	Y281F	probably damaging	Het
Olfr640	T	C	7: 104,021,997	H107R	probably damaging	Het
Olfr753-ps1	T	A	17: 37,170,000	Y216F	probably damaging	Het
Olfr887	A	T	9: 38,085,126	M97L	probably benign	Het
Pdzph1	T	A	17: 58,974,880	I136F	probably damaging	Het
Pigg	T	C	5: 108,314,160	I119T	probably damaging	Het
R3hdm2	A	G	10: 127,458,893	H215R	probably damaging	Het
Sept14	C	T	5: 129,685,914		probably null	Het
Slc9a3	T	C	13: 74,150,960	M166T	possibly damaging	Het
Spock3	A	G	8: 63,345,782	D279G	probably damaging	Het
Suco	T	C	1: 161,833,430	I967V	probably damaging	Het
Tgtp1	A	G	11: 48,987,176	L234P	probably damaging	Het
Tmem176a	A	G	6: 48,842,217	D4G	probably benign	Het
Tmem2	T	C	19: 21,798,329	I312T	probably benign	Het
Ugt1a10	G	A	1: 88,216,254	A199T	probably damaging	Het
Uox	A	G	3: 146,624,545	D152G	probably damaging	Het
Vmn1r35	C	T	6: 66,679,506	W60*	probably null	Het
Vmn2r103	T	C	17: 19,812,171	C736R	probably damaging	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
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
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'- TATGAAGTCAGCTCCCAGTCTC -3'
(R):5'- AGAATCGGTCCTTCCTCTGC -3'

Sequencing Primer
(F):5'- GCCTTCCACCTGATAATACATTTAGG -3'
(R):5'- CCAGACAGACTCAGATGTGGTTTC -3'

Posted On

2016-08-04