Mutagenetix > Incidental Mutation

Incidental Mutation 'R6907:Kntc1'

538816

Institutional Source

Beutler Lab

Gene Symbol

Kntc1

Ensembl Gene

ENSMUSG00000029414

Gene Name

kinetochore associated 1

Synonyms

jgl

MMRRC Submission

044999-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R6907 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123887779-123959656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123939888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1561 (Y1561N)

Ref Sequence

ENSEMBL: ENSMUSP00000031366 (fasta)

Gene Model

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

AlphaFold

Q8C3Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000031366
AA Change: Y1561N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: Y1561N

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

0.6054

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (38/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 112,698,793 (GRCm39)	I344V	probably benign	Het
Bmper	A	T	9: 23,310,868 (GRCm39)	Q434L	probably damaging	Het
Cabyr	A	G	18: 12,883,969 (GRCm39)	Y152C	probably benign	Het
Cactin	G	A	10: 81,159,278 (GRCm39)		probably null	Het
Cadps2	T	C	6: 23,599,505 (GRCm39)	D238G	probably damaging	Het
Card10	T	C	15: 78,671,671 (GRCm39)	T598A	possibly damaging	Het
Ctr9	C	T	7: 110,629,449 (GRCm39)	P25L	probably damaging	Het
Entpd5	T	C	12: 84,424,127 (GRCm39)	T409A	probably benign	Het
Exd1	A	G	2: 119,363,957 (GRCm39)	V137A	probably damaging	Het
Fcgbp	G	A	7: 27,784,443 (GRCm39)	G168R	probably damaging	Het
Ift88	A	G	14: 57,683,067 (GRCm39)	N248S	probably benign	Het
Mef2c	A	G	13: 83,802,730 (GRCm39)	D227G	probably benign	Het
Myh2	C	T	11: 67,084,567 (GRCm39)	T1702M	probably damaging	Het
Myo1e	T	A	9: 70,234,437 (GRCm39)	N263K	probably benign	Het
Nfe2l1	A	G	11: 96,710,636 (GRCm39)	L373P	probably damaging	Het
Nob1	C	T	8: 108,142,860 (GRCm39)	V274M	possibly damaging	Het
Ntng2	A	G	2: 29,118,218 (GRCm39)	C77R	probably damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or10ad1c	T	C	15: 98,085,649 (GRCm39)	N10D	probably damaging	Het
Or5p55	T	C	7: 107,567,459 (GRCm39)	L285P	probably damaging	Het
Pcdh7	T	A	5: 57,876,471 (GRCm39)	W9R	possibly damaging	Het
Pcdha1	A	G	18: 37,064,124 (GRCm39)	T263A	probably benign	Het
Per3	C	T	4: 151,128,015 (GRCm39)		probably null	Het
Pgbd5	A	G	8: 125,107,021 (GRCm39)	F265L	probably damaging	Het
Ppm1k	T	G	6: 57,487,755 (GRCm39)	E356A	probably benign	Het
Ptgfr	G	T	3: 151,540,938 (GRCm39)	T190K	possibly damaging	Het
Sec24a	A	G	11: 51,603,103 (GRCm39)	Y782H	probably damaging	Het
Setd1b	T	C	5: 123,301,295 (GRCm39)		probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,090,323 (GRCm39)	T253I	possibly damaging	Het
Tcf4	C	T	18: 69,785,484 (GRCm39)	T207M	probably damaging	Het
Thada	T	C	17: 84,700,897 (GRCm39)	N1203S	probably damaging	Het
Tln2	A	T	9: 67,304,917 (GRCm39)	S5T	probably damaging	Het
Traf4	C	T	11: 78,051,268 (GRCm39)	R296Q	probably benign	Het
Ttbk2	A	G	2: 120,655,751 (GRCm39)	S38P	probably benign	Het
Vrk1	G	T	12: 106,041,291 (GRCm39)	Q395H	possibly damaging	Het
Vwa3a	G	T	7: 120,391,804 (GRCm39)		probably benign	Het
Wdsub1	C	T	2: 59,692,028 (GRCm39)	V335I	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
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
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'- ATCATGCTTTAGGAGACAGCAATAG -3'
(R):5'- GGCCACTTAGCGAAACTCATC -3'

Sequencing Primer
(F):5'- GTGTTTTCAGGCACACGCAC -3'
(R):5'- CTCATCACAAGTTAATGAACGTACAG -3'

Posted On

2018-11-06