Mutagenetix > Incidental Mutation

Incidental Mutation 'R4849:Kntc1'

373381

Institutional Source

Beutler Lab

Gene Symbol

Kntc1

Ensembl Gene

ENSMUSG00000029414

Gene Name

kinetochore associated 1

Synonyms

jgl

MMRRC Submission

042461-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R4849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123887779-123959656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123897128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 164 (I164L)

Ref Sequence

ENSEMBL: ENSMUSP00000031366 (fasta)

Gene Model

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

AlphaFold

Q8C3Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000031366
AA Change: I164L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: I164L

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

0.2167

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	T	7: 28,314,877 (GRCm39)	R239S	possibly damaging	Het
Angptl1	C	A	1: 156,684,735 (GRCm39)	N301K	probably benign	Het
Ankrd26	T	A	6: 118,509,257 (GRCm39)	T603S	probably benign	Het
App	T	C	16: 84,853,322 (GRCm39)	D252G	unknown	Het
Atxn3	A	G	12: 101,900,627 (GRCm39)	S219P	probably benign	Het
Birc6	T	C	17: 74,954,383 (GRCm39)	S3397P	probably damaging	Het
Bivm	A	G	1: 44,182,033 (GRCm39)	I414V	possibly damaging	Het
Cemip	A	G	7: 83,584,945 (GRCm39)	F1324L	possibly damaging	Het
Ckap5	T	A	2: 91,445,616 (GRCm39)	N1724K	probably damaging	Het
Corin	T	A	5: 72,460,178 (GRCm39)	M1035L	probably damaging	Het
Ctnna3	T	C	10: 64,709,094 (GRCm39)	I711T	probably damaging	Het
Cts6	A	T	13: 61,349,415 (GRCm39)	W98R	probably null	Het
Dip2a	A	G	10: 76,130,367 (GRCm39)	S580P	probably damaging	Het
Dock6	A	G	9: 21,723,068 (GRCm39)		probably null	Het
Dusp15	T	A	2: 152,791,002 (GRCm39)	T32S	probably damaging	Het
Eogt	T	A	6: 97,093,016 (GRCm39)	N387I	probably damaging	Het
Evx2	T	C	2: 74,489,675 (GRCm39)	D29G	probably benign	Het
Fat1	A	G	8: 45,466,007 (GRCm39)	N1422S	probably benign	Het
Fat2	T	C	11: 55,201,463 (GRCm39)	D537G	probably damaging	Het
Fat3	A	C	9: 16,289,244 (GRCm39)	I93S	probably benign	Het
Fem1b	T	C	9: 62,704,576 (GRCm39)	E228G	probably damaging	Het
Fh1	A	G	1: 175,448,072 (GRCm39)	T25A	probably benign	Het
Fndc3b	A	G	3: 27,514,097 (GRCm39)	W695R	probably damaging	Het
Gaa	G	A	11: 119,163,813 (GRCm39)	V222I	possibly damaging	Het
Ggnbp1	T	C	17: 27,251,947 (GRCm39)		probably null	Het
Gipc1	A	G	8: 84,388,756 (GRCm39)	Y154C	probably benign	Het
Gm5356	G	T	8: 89,913,670 (GRCm39)		noncoding transcript	Het
Gnl1	T	A	17: 36,298,603 (GRCm39)		probably null	Het
Gpcpd1	C	T	2: 132,376,019 (GRCm39)	G605R	probably damaging	Het
Guca1a	T	C	17: 47,705,662 (GRCm39)	T177A	possibly damaging	Het
Ifit1bl1	T	C	19: 34,572,076 (GRCm39)	E127G	probably damaging	Het
Ift81	A	T	5: 122,729,282 (GRCm39)	I350N	probably damaging	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Ing4	A	G	6: 125,020,946 (GRCm39)	R23G	probably damaging	Het
Ins1	A	G	19: 52,253,384 (GRCm39)	N108S	probably damaging	Het
Iqce	A	T	5: 140,679,214 (GRCm39)	M72K	possibly damaging	Het
Itga3	C	A	11: 94,967,097 (GRCm39)	M22I	probably benign	Het
Kctd18	T	C	1: 58,001,152 (GRCm39)	E201G	probably damaging	Het
Klc1	A	G	12: 111,748,129 (GRCm39)	N344S	probably damaging	Het
Klrb1f	A	T	6: 129,033,347 (GRCm39)	I192F	probably damaging	Het
Klrg2	A	T	6: 38,607,214 (GRCm39)		probably null	Het
Ltf	T	A	9: 110,855,058 (GRCm39)	I357K	probably benign	Het
Mr1	T	C	1: 155,006,436 (GRCm39)	T304A	probably benign	Het
Msh6	C	T	17: 88,290,947 (GRCm39)	R178C	possibly damaging	Het
Mtch1	T	C	17: 29,566,565 (GRCm39)	D66G	probably benign	Het
Mtmr7	A	G	8: 41,062,040 (GRCm39)	V15A	probably benign	Het
Mtss2	A	T	8: 111,452,875 (GRCm39)	H40L	possibly damaging	Het
Mxra8	A	G	4: 155,925,331 (GRCm39)		probably benign	Het
Myo3b	T	C	2: 70,075,253 (GRCm39)	L535P	probably damaging	Het
Neurl2	T	A	2: 164,674,739 (GRCm39)		probably null	Het
Nfia	A	C	4: 97,970,048 (GRCm39)	T503P	probably damaging	Het
Noa1	T	C	5: 77,454,179 (GRCm39)	E487G	possibly damaging	Het
Nuak1	A	T	10: 84,211,143 (GRCm39)	V315D	probably damaging	Het
Nup205	A	G	6: 35,207,505 (GRCm39)	N1519S	possibly damaging	Het
Or10x1	T	A	1: 174,196,966 (GRCm39)	I161K	probably damaging	Het
Or1l4b	T	C	2: 37,036,266 (GRCm39)	L14P	probably damaging	Het
Or1o1	T	C	17: 37,716,589 (GRCm39)	V50A	probably benign	Het
Or51f1e	A	G	7: 102,747,526 (GRCm39)	I193V	possibly damaging	Het
Or6b13	G	T	7: 139,782,340 (GRCm39)	C114*	probably null	Het
Or9s18	G	A	13: 65,300,493 (GRCm39)	V152M	possibly damaging	Het
Peli1	T	A	11: 21,098,528 (GRCm39)		probably benign	Het
Ppp6r1	A	G	7: 4,646,206 (GRCm39)	L175P	probably damaging	Het
Prkcd	A	G	14: 30,321,700 (GRCm39)	L498P	probably damaging	Het
Prss30	T	A	17: 24,191,769 (GRCm39)	I251F	probably benign	Het
Psme3	A	T	11: 101,207,907 (GRCm39)	N21Y	probably benign	Het
Ptpra	T	C	2: 130,374,081 (GRCm39)	Y271H	probably damaging	Het
Ralgapa1	T	A	12: 55,745,588 (GRCm39)	N1303Y	probably damaging	Het
Rims4	T	C	2: 163,707,463 (GRCm39)	I121V	probably benign	Het
Rnf123	A	T	9: 107,933,290 (GRCm39)	L1149Q	probably damaging	Het
Ryr3	T	A	2: 112,738,807 (GRCm39)	L593F	probably damaging	Het
Sec23b	T	C	2: 144,427,519 (GRCm39)	F582S	probably damaging	Het
Sgpl1	T	C	10: 60,940,297 (GRCm39)	K335R	probably benign	Het
Sirpa	C	T	2: 129,451,163 (GRCm39)	T141I	probably damaging	Het
Slit1	G	T	19: 41,637,983 (GRCm39)	A270E	probably benign	Het
Snap91	T	C	9: 86,674,613 (GRCm39)	T533A	possibly damaging	Het
Sphkap	T	G	1: 83,255,105 (GRCm39)	E881D	probably benign	Het
Sptan1	C	A	2: 29,901,054 (GRCm39)	R1407S	probably damaging	Het
Tfdp1	A	G	8: 13,423,895 (GRCm39)	T353A	probably benign	Het
Ttyh1	A	G	7: 4,125,533 (GRCm39)	I62V	possibly damaging	Het
Vwde	A	T	6: 13,196,047 (GRCm39)	V326D	possibly damaging	Het
Zfp398	T	C	6: 47,836,446 (GRCm39)	I82T	possibly damaging	Het
Zp1	A	G	19: 10,896,198 (GRCm39)	Y176H	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
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'- GGAGACTACTTTCCTGCTCACTA -3'
(R):5'- GTAGGGTCACATGCACCATTCC -3'

Sequencing Primer
(F):5'- GGAGCTTGGCAACCTGAATCTTTAC -3'
(R):5'- CCTCCAGTTAGTTACAGGCAGATG -3'

Posted On

2016-03-01