Mutagenetix > Incidental Mutation

Incidental Mutation 'R5496:Kntc1'

501130

Institutional Source

Beutler Lab

Gene Symbol

Kntc1

Ensembl Gene

ENSMUSG00000029414

Gene Name

kinetochore associated 1

Synonyms

jgl

MMRRC Submission

043057-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123887779-123959656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123922245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 948 (D948G)

Ref Sequence

ENSEMBL: ENSMUSP00000031366 (fasta)

Gene Model

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

AlphaFold

Q8C3Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000031366
AA Change: D948G

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

SMART Domains

Protein: ENSMUSP00000031366
Gene: ENSMUSG00000029414
AA Change: D948G

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: ENSMUST00000197665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198716

Predicted Effect

probably benign
Transcript: ENSMUST00000198841

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,724,818 (GRCm39)	V84I	probably benign	Het
Adam10	T	G	9: 70,630,021 (GRCm39)	F151C	probably damaging	Het
Akap6	A	G	12: 53,187,436 (GRCm39)	S1617G	possibly damaging	Het
Ano6	T	A	15: 95,865,495 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,683,911 (GRCm39)	T524A	probably benign	Het
Bicra	C	T	7: 15,721,766 (GRCm39)	V584I	probably benign	Het
Carmil1	G	A	13: 24,339,433 (GRCm39)	R54C	probably damaging	Het
Cbln1	A	G	8: 88,198,324 (GRCm39)	I127T	possibly damaging	Het
Ccl26	A	G	5: 135,592,217 (GRCm39)	V40A	probably benign	Het
Cdh20	T	A	1: 109,976,647 (GRCm39)	I104N	probably damaging	Het
Cdt1	C	T	8: 123,297,239 (GRCm39)	R311W	probably damaging	Het
Cfap91	A	G	16: 38,141,855 (GRCm39)	I359T	probably damaging	Het
Col12a1	A	G	9: 79,509,467 (GRCm39)		probably benign	Het
Csf2rb	A	G	15: 78,224,761 (GRCm39)	E173G	probably damaging	Het
Cyb561	A	G	11: 105,828,545 (GRCm39)	Y94H	probably damaging	Het
Cyp3a16	T	A	5: 145,404,341 (GRCm39)	K34M	probably damaging	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dnah7a	T	G	1: 53,496,927 (GRCm39)	M3110L	probably benign	Het
Dyrk2	T	C	10: 118,695,956 (GRCm39)	E434G	probably damaging	Het
Ebag9	T	G	15: 44,503,816 (GRCm39)	*214E	probably null	Het
Egln3	A	T	12: 54,250,110 (GRCm39)	W80R	probably damaging	Het
Eps15l1	A	G	8: 73,136,619 (GRCm39)	Y336H	probably benign	Het
Gak	A	G	5: 108,724,483 (GRCm39)	S1076P	probably benign	Het
Glra1	T	C	11: 55,418,241 (GRCm39)	Y168C	probably damaging	Het
Glrx2	T	A	1: 143,620,945 (GRCm39)	M108K	probably damaging	Het
Gm3604	A	T	13: 62,519,393 (GRCm39)	S59T	possibly damaging	Het
Gm8212	A	T	14: 44,438,614 (GRCm39)		probably benign	Het
Gmcl1	G	T	6: 86,674,507 (GRCm39)	A457D	probably damaging	Het
H2-M11	T	C	17: 36,858,871 (GRCm39)	F137S	possibly damaging	Het
Ighv1-55	C	G	12: 115,172,140 (GRCm39)	W3S	probably damaging	Het
Il22	T	G	10: 118,041,002 (GRCm39)	V36G	possibly damaging	Het
Ints1	G	A	5: 139,740,953 (GRCm39)	A1904V	probably benign	Het
Iqgap2	A	G	13: 95,766,561 (GRCm39)	Y1481H	probably damaging	Het
Kcnn3	C	T	3: 89,516,797 (GRCm39)	A402V	possibly damaging	Het
Kif18b	A	T	11: 102,804,568 (GRCm39)	I362N	possibly damaging	Het
Kif5c	C	G	2: 49,620,202 (GRCm39)	A223G	possibly damaging	Het
Krba1	A	G	6: 48,383,290 (GRCm39)	T229A	possibly damaging	Het
Leprot	T	A	4: 101,515,093 (GRCm39)	I113N	probably damaging	Het
Lrp1b	T	C	2: 40,817,985 (GRCm39)	D2415G	probably benign	Het
Mnd1	T	A	3: 83,995,481 (GRCm39)	D171V	probably damaging	Het
Mthfsd	A	T	8: 121,825,553 (GRCm39)	Y339*	probably null	Het
Nfatc2	G	A	2: 168,378,198 (GRCm39)	T268M	probably damaging	Het
Or14j10	T	C	17: 37,935,469 (GRCm39)	D19G	probably benign	Het
Or52d3	G	C	7: 104,229,701 (GRCm39)	A283P	probably damaging	Het
Or8h7	G	T	2: 86,720,658 (GRCm39)	P287Q	probably damaging	Het
Or8h7	G	C	2: 86,720,659 (GRCm39)	P287A	probably damaging	Het
Pan3	G	A	5: 147,463,938 (GRCm39)		probably null	Het
Pde6a	A	T	18: 61,386,736 (GRCm39)		probably null	Het
Prss39	T	C	1: 34,539,342 (GRCm39)	I194T	possibly damaging	Het
Rfx8	T	C	1: 39,709,507 (GRCm39)	S507G	probably benign	Het
Rif1	T	C	2: 51,988,928 (GRCm39)	S774P	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Smurf1	C	A	5: 144,819,403 (GRCm39)	E601*	probably null	Het
Stau2	T	C	1: 16,460,245 (GRCm39)	S231G	probably damaging	Het
Timp2	T	G	11: 118,194,707 (GRCm39)	M161L	probably benign	Het
Tlr5	T	C	1: 182,801,197 (GRCm39)	L167P	probably damaging	Het
Trhr	G	A	15: 44,060,932 (GRCm39)	A151T	probably benign	Het
Unc13d	A	G	11: 115,957,534 (GRCm39)	V807A	probably damaging	Het
Usp2	T	C	9: 43,996,505 (GRCm39)	V7A	possibly damaging	Het
Uspl1	A	G	5: 149,146,589 (GRCm39)	T447A	probably damaging	Het
Zan	A	G	5: 137,434,607 (GRCm39)	I2232T	unknown	Het
Zfp12	C	A	5: 143,230,550 (GRCm39)	C292*	probably null	Het
Zfp850	A	C	7: 27,706,771 (GRCm39)	M43R	probably damaging	Het
Zic5	G	A	14: 122,696,755 (GRCm39)	T620M	unknown	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
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'- CCGGACTGGAGCTACACATAAC -3'
(R):5'- GCCAGCTTCATGAAACGTGTAG -3'

Sequencing Primer
(F):5'- TGGAGCTACACATAACCCTCAG -3'
(R):5'- TCACATGCTGTAGTCTAAGATGAC -3'

Posted On

2017-12-01