Mutagenetix > Incidental Mutation

Incidental Mutation 'R5773:Kntc1'

445497

Institutional Source

Beutler Lab

Gene Symbol

Kntc1

Ensembl Gene

ENSMUSG00000029414

Gene Name

kinetochore associated 1

Synonyms

jgl

MMRRC Submission

043372-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123887779-123959656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123932220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1338 (R1338Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031366 (fasta)

Gene Model

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

AlphaFold

Q8C3Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000031366
AA Change: R1338Q

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

SMART Domains

Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: R1338Q

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: ENSMUST00000198716

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,416,614 (GRCm39)		probably null	Het
Akna	C	T	4: 63,313,307 (GRCm39)	S272N	probably benign	Het
Ap2m1	T	C	16: 20,362,140 (GRCm39)	V416A	probably damaging	Het
Atp7b	A	G	8: 22,517,879 (GRCm39)	F320L	probably benign	Het
Brd1	T	C	15: 88,573,752 (GRCm39)	K1116E	probably benign	Het
Ccdc186	T	C	19: 56,801,919 (GRCm39)	D66G	probably benign	Het
Cdh4	A	G	2: 179,527,789 (GRCm39)	Y503C	probably damaging	Het
Cfb	C	A	17: 35,076,248 (GRCm39)	E166*	probably null	Het
Cmtm1	A	T	8: 105,031,808 (GRCm39)	F90I	probably damaging	Het
Col1a1	A	T	11: 94,830,255 (GRCm39)	K160N	probably benign	Het
Cradd	T	C	10: 95,011,823 (GRCm39)	I106V	probably benign	Het
Defa17	A	G	8: 22,146,574 (GRCm39)	R67G	probably damaging	Het
Dgkh	T	C	14: 78,832,895 (GRCm39)	N765S	probably damaging	Het
Dock5	A	G	14: 68,033,507 (GRCm39)	V954A	possibly damaging	Het
Eif2d	A	G	1: 131,086,040 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,004,040 (GRCm39)	F683I	probably damaging	Het
Fhad1	T	G	4: 141,656,881 (GRCm39)	K91T	probably damaging	Het
Fut11	A	T	14: 20,748,383 (GRCm39)	D476V	probably damaging	Het
Gldn	T	C	9: 54,241,775 (GRCm39)		probably null	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gm8674	T	A	13: 50,055,912 (GRCm39)		noncoding transcript	Het
Gtpbp6	C	A	5: 110,254,757 (GRCm39)	E168D	possibly damaging	Het
Hinfp	T	A	9: 44,210,533 (GRCm39)	H163L	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Ing3	T	A	6: 21,971,834 (GRCm39)	C368S	probably damaging	Het
Itih1	A	G	14: 30,657,356 (GRCm39)	V489A	possibly damaging	Het
Itsn2	T	C	12: 4,757,089 (GRCm39)	L1393P	probably damaging	Het
Kcnj13	T	C	1: 87,314,389 (GRCm39)	T278A	probably damaging	Het
Lipi	T	A	16: 75,370,813 (GRCm39)	T135S	probably damaging	Het
Map7	A	G	10: 20,122,390 (GRCm39)	K152R	probably benign	Het
Mmp24	A	G	2: 155,641,829 (GRCm39)	Y219C	probably damaging	Het
Nup188	T	C	2: 30,212,208 (GRCm39)	V565A	possibly damaging	Het
Nup210	T	C	6: 91,062,865 (GRCm39)	K265E	probably damaging	Het
Or10ak9	A	G	4: 118,726,718 (GRCm39)	T247A	probably damaging	Het
Pcdha6	A	T	18: 37,102,643 (GRCm39)	H612L	probably benign	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pld2	G	T	11: 70,446,758 (GRCm39)	S778I	probably damaging	Het
Ppef2	A	C	5: 92,398,420 (GRCm39)	Y33D	probably damaging	Het
Ppfibp2	A	T	7: 107,285,079 (GRCm39)	T129S	possibly damaging	Het
Prickle1	G	T	15: 93,406,478 (GRCm39)	H182N	probably damaging	Het
R3hdm2	T	A	10: 127,280,172 (GRCm39)		probably benign	Het
Rbm12b1	A	T	4: 12,145,765 (GRCm39)	E579V	probably damaging	Het
Rsf1	GGC	GGCGGCGGCTGC	7: 97,229,140 (GRCm39)		probably benign	Het
Slc1a6	T	G	10: 78,629,111 (GRCm39)		probably null	Het
Slc27a6	G	T	18: 58,715,245 (GRCm39)	A283S	probably damaging	Het
Spats2l	T	A	1: 57,918,708 (GRCm39)	N27K	possibly damaging	Het
Srgap1	T	C	10: 121,732,614 (GRCm39)	M155V	probably benign	Het
Stxbp5l	C	A	16: 37,028,459 (GRCm39)	A535S	probably damaging	Het
Svep1	C	A	4: 58,099,985 (GRCm39)	C1353F	possibly damaging	Het
Taar4	T	A	10: 23,837,056 (GRCm39)	I222N	probably damaging	Het
Tlr6	A	G	5: 65,111,846 (GRCm39)	F354L	probably benign	Het
Trp53bp1	A	G	2: 121,074,395 (GRCm39)	S452P	probably damaging	Het
Ttll5	GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC	G	12: 85,980,329 (GRCm39)		probably null	Het
Usp42	A	T	5: 143,699,467 (GRCm39)	M1264K	probably benign	Het
Zfp865	A	T	7: 5,037,693 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,334,511 (GRCm39)	L169Q	probably damaging	Het
Zmym4	A	T	4: 126,799,163 (GRCm39)	N383K	possibly 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
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
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'- AGGTTCCCTAAGCACATTTCC -3'
(R):5'- GAGACAGATCACCGTTTCTGCC -3'

Sequencing Primer
(F):5'- CTAAGCACATTTCCTTAGAGTGC -3'
(R):5'- TGCCCAACAGTTGAACCCTAC -3'

Posted On

2016-11-21