Mutagenetix > Incidental Mutation

Incidental Mutation 'R6086:Knl1'

482462

Institutional Source

Beutler Lab

Gene Symbol

Knl1

Ensembl Gene

ENSMUSG00000027326

Gene Name

kinetochore scaffold 1

Synonyms

2310043D08Rik, 5730505K17Rik

MMRRC Submission

044427-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6086 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119047119-119105501 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119094068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1861 (R1861G)

Ref Sequence

ENSEMBL: ENSMUSP00000097140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028802] [ENSMUST00000099542]

AlphaFold

Q66JQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028802
AA Change: R1861G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028802
Gene: ENSMUSG00000027326
AA Change: R1861G

Domain	Start	End	E-Value	Type
low complexity region	49	58	N/A	INTRINSIC
internal_repeat_1	98	304	1.57e-6	PROSPERO
low complexity region	426	433	N/A	INTRINSIC
internal_repeat_1	610	824	1.57e-6	PROSPERO
low complexity region	883	894	N/A	INTRINSIC
low complexity region	1148	1159	N/A	INTRINSIC
low complexity region	1621	1644	N/A	INTRINSIC
coiled coil region	1724	1755	N/A	INTRINSIC
low complexity region	1836	1850	N/A	INTRINSIC
low complexity region	1864	1878	N/A	INTRINSIC
PDB:4NF9\|B	1899	2119	1e-115	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000099542
AA Change: R1861G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097140
Gene: ENSMUSG00000027326
AA Change: R1861G

Domain	Start	End	E-Value	Type
low complexity region	49	58	N/A	INTRINSIC
internal_repeat_1	98	304	1.57e-6	PROSPERO
low complexity region	426	433	N/A	INTRINSIC
internal_repeat_1	610	824	1.57e-6	PROSPERO
low complexity region	883	894	N/A	INTRINSIC
low complexity region	1148	1159	N/A	INTRINSIC
low complexity region	1621	1644	N/A	INTRINSIC
coiled coil region	1724	1755	N/A	INTRINSIC
low complexity region	1836	1850	N/A	INTRINSIC
low complexity region	1864	1878	N/A	INTRINSIC
PDB:4NF9\|B	1899	2119	1e-115	PDB

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (65/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. Mice homozygous for an ENU-induced allele exhibit possible embryonic lethality. [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
Apob	G	T	12: 8,015,164 (GRCm38)	K4044N	probably benign	Het
Asic4	G	A	1: 75,473,243 (GRCm38)	V468I	possibly damaging	Het
Atf4	T	A	15: 80,257,453 (GRCm38)	V348D	probably benign	Het
Bcl9	A	G	3: 97,205,524 (GRCm38)	V1205A	possibly damaging	Het
Bora	A	T	14: 99,062,294 (GRCm38)	Q234L	possibly damaging	Het
Cap2	C	A	13: 46,635,712 (GRCm38)	P131Q	probably damaging	Het
Cdyl2	A	G	8: 116,589,296 (GRCm38)	S318P	probably damaging	Het
Ces1a	T	G	8: 93,027,353 (GRCm38)	N341H	probably benign	Het
Cimap2	T	C	4: 106,613,206 (GRCm38)	E218G	probably damaging	Het
Crlf3	C	T	11: 80,048,610 (GRCm38)	V352M	possibly damaging	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Cyren	A	G	6: 34,874,620 (GRCm38)	S127P	probably damaging	Het
Dnah2	T	C	11: 69,516,008 (GRCm38)	T529A	probably benign	Het
Dnah9	A	C	11: 66,085,174 (GRCm38)	S1350A	probably benign	Het
Dnah9	C	T	11: 65,989,915 (GRCm38)	D2619N	probably damaging	Het
Dnajc6	C	T	4: 101,597,807 (GRCm38)	S65L	probably benign	Het
Dnm3	C	A	1: 162,321,033 (GRCm38)	R256S	probably damaging	Het
Enpp2	T	C	15: 54,845,834 (GRCm38)	D795G	probably damaging	Het
Fah	A	T	7: 84,588,912 (GRCm38)	W367R	probably damaging	Het
Fam220a	T	A	5: 143,563,041 (GRCm38)	H69Q	probably benign	Het
Fgd3	T	A	13: 49,287,296 (GRCm38)	T220S	probably benign	Het
Furin	G	T	7: 80,395,431 (GRCm38)	H248Q	probably damaging	Het
Gabrg1	A	T	5: 70,754,053 (GRCm38)	L410Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,663,803 (GRCm38)		probably null	Het
Gm9742	T	C	13: 8,030,033 (GRCm38)		noncoding transcript	Het
Gpcpd1	A	G	2: 132,538,114 (GRCm38)	S252P	probably damaging	Het
Hnrnpdl	C	T	5: 100,036,481 (GRCm38)	G398S	probably null	Het
Hspa1l	T	C	17: 34,978,155 (GRCm38)	V390A	possibly damaging	Het
Htr3b	T	C	9: 48,947,298 (GRCm38)	S94G	probably benign	Het
Klf10	G	T	15: 38,296,937 (GRCm38)	S271R	probably benign	Het
Klk1b3	T	A	7: 44,201,734 (GRCm38)	L197Q	probably damaging	Het
Myo9a	C	T	9: 59,790,057 (GRCm38)	Q374*	probably null	Het
Myt1l	G	A	12: 29,832,332 (GRCm38)	G509R	unknown	Het
Ncapg	T	C	5: 45,693,236 (GRCm38)	L728P	probably damaging	Het
Nfxl1	A	C	5: 72,541,019 (GRCm38)	F228V	probably benign	Het
Ntaq1	C	A	15: 58,150,628 (GRCm38)	A71E	probably damaging	Het
Oc90	A	G	15: 65,889,711 (GRCm38)	S153P	probably damaging	Het
Or4c123	A	G	2: 89,296,854 (GRCm38)	C139R	probably damaging	Het
Or5b105	A	G	19: 13,102,381 (GRCm38)	*308Q	probably null	Het
Pbk	A	T	14: 65,815,253 (GRCm38)	K182*	probably null	Het
Piezo1	A	G	8: 122,501,657 (GRCm38)	F296S	possibly damaging	Het
Psmg1	T	A	16: 95,980,044 (GRCm38)	Y288F	probably damaging	Het
Rab11fip4	G	A	11: 79,683,480 (GRCm38)	D132N	probably damaging	Het
Recql4	T	C	15: 76,704,587 (GRCm38)	D1051G	probably damaging	Het
Reep5	A	C	18: 34,357,131 (GRCm38)	D104E	probably damaging	Het
Rnpepl1	T	C	1: 92,917,681 (GRCm38)	Y441H	probably damaging	Het
Scnm1	T	C	3: 95,130,285 (GRCm38)	I157V	probably benign	Het
Sema3b	T	C	9: 107,600,848 (GRCm38)	D446G	probably damaging	Het
Sema4d	C	T	13: 51,713,745 (GRCm38)	R190Q	probably damaging	Het
Slco3a1	G	A	7: 74,318,590 (GRCm38)	R461C	possibly damaging	Het
Spmap2l	T	A	5: 77,061,305 (GRCm38)	V458E	probably benign	Het
Tenm2	T	A	11: 36,008,646 (GRCm38)	I2562F	possibly damaging	Het
Tmem40	G	T	6: 115,733,667 (GRCm38)	N120K	possibly damaging	Het
Tmod3	T	C	9: 75,500,123 (GRCm38)	H351R	probably benign	Het
Tnn	C	T	1: 160,086,120 (GRCm38)	V1268M	probably damaging	Het
Tpmt	T	A	13: 47,035,030 (GRCm38)	D132V	probably damaging	Het
Trgc3	T	C	13: 19,263,284 (GRCm38)	S136P	probably damaging	Het
Trib1	G	A	15: 59,654,475 (GRCm38)	R298H	probably damaging	Het
Tsen2	A	G	6: 115,560,075 (GRCm38)	E264G	probably benign	Het
Urah	A	G	7: 140,836,798 (GRCm38)	I60M	probably benign	Het
Vmn2r26	T	A	6: 124,039,560 (GRCm38)	S328T	possibly damaging	Het
Vmn2r27	G	C	6: 124,191,999 (GRCm38)	T724R	probably damaging	Het
Washc2	A	G	6: 116,256,216 (GRCm38)		probably null	Het
Zfp955b	T	A	17: 33,302,504 (GRCm38)	W316R	probably benign	Het
Zranb2	T	C	3: 157,543,246 (GRCm38)		probably null	Het

Other mutations in Knl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Knl1	APN	2	119,064,083 (GRCm38)	missense	probably damaging	0.96
IGL00582:Knl1	APN	2	119,102,499 (GRCm38)	missense	probably benign	0.19
IGL00666:Knl1	APN	2	119,070,464 (GRCm38)	missense	probably damaging	0.96
IGL01062:Knl1	APN	2	119,076,980 (GRCm38)	missense	probably benign	0.33
IGL01395:Knl1	APN	2	119,071,566 (GRCm38)	missense	probably damaging	0.96
IGL01604:Knl1	APN	2	119,070,001 (GRCm38)	missense	probably damaging	1.00
IGL01996:Knl1	APN	2	119,104,061 (GRCm38)	missense	probably damaging	1.00
IGL02086:Knl1	APN	2	119,100,774 (GRCm38)	missense	probably benign	0.40
IGL02105:Knl1	APN	2	119,071,808 (GRCm38)	missense	probably benign
IGL02106:Knl1	APN	2	119,072,008 (GRCm38)	missense	possibly damaging	0.89
IGL02201:Knl1	APN	2	119,069,152 (GRCm38)	missense	probably benign	0.01
IGL02252:Knl1	APN	2	119,072,540 (GRCm38)	missense	probably damaging	1.00
IGL02414:Knl1	APN	2	119,070,323 (GRCm38)	missense	possibly damaging	0.83
IGL02655:Knl1	APN	2	119,070,992 (GRCm38)	missense	possibly damaging	0.62
IGL02682:Knl1	APN	2	119,077,969 (GRCm38)	missense	possibly damaging	0.86
IGL02710:Knl1	APN	2	119,070,930 (GRCm38)	missense	probably damaging	0.99
IGL02877:Knl1	APN	2	119,088,831 (GRCm38)	missense	probably benign	0.08
IGL03100:Knl1	APN	2	119,100,770 (GRCm38)	missense	probably damaging	0.99
IGL03210:Knl1	APN	2	119,070,617 (GRCm38)	missense	probably benign	0.02
IGL03138:Knl1	UTSW	2	119,072,359 (GRCm38)	missense	probably damaging	0.96
R0023:Knl1	UTSW	2	119,102,549 (GRCm38)	missense	possibly damaging	0.73
R0064:Knl1	UTSW	2	119,076,243 (GRCm38)	missense	probably benign	0.00
R0064:Knl1	UTSW	2	119,076,243 (GRCm38)	missense	probably benign	0.00
R0078:Knl1	UTSW	2	119,069,892 (GRCm38)	missense	probably benign	0.16
R0178:Knl1	UTSW	2	119,058,405 (GRCm38)	splice site	probably benign
R0295:Knl1	UTSW	2	119,088,839 (GRCm38)	missense	probably damaging	1.00
R0433:Knl1	UTSW	2	119,104,061 (GRCm38)	missense	probably damaging	0.96
R0453:Knl1	UTSW	2	119,068,388 (GRCm38)	missense	probably damaging	1.00
R0569:Knl1	UTSW	2	119,097,435 (GRCm38)	missense	possibly damaging	0.95
R0827:Knl1	UTSW	2	119,088,901 (GRCm38)	splice site	probably benign
R0920:Knl1	UTSW	2	119,069,828 (GRCm38)	missense	probably benign	0.00
R1120:Knl1	UTSW	2	119,062,375 (GRCm38)	missense	probably damaging	0.99
R1155:Knl1	UTSW	2	119,071,154 (GRCm38)	missense	possibly damaging	0.90
R1204:Knl1	UTSW	2	119,071,189 (GRCm38)	missense	probably benign	0.00
R1241:Knl1	UTSW	2	119,072,573 (GRCm38)	missense	probably benign	0.03
R1387:Knl1	UTSW	2	119,070,730 (GRCm38)	missense	possibly damaging	0.93
R1448:Knl1	UTSW	2	119,068,307 (GRCm38)	missense	probably damaging	1.00
R1469:Knl1	UTSW	2	119,071,346 (GRCm38)	missense	possibly damaging	0.73
R1469:Knl1	UTSW	2	119,071,346 (GRCm38)	missense	possibly damaging	0.73
R1719:Knl1	UTSW	2	119,071,738 (GRCm38)	missense	probably benign	0.01
R1721:Knl1	UTSW	2	119,076,334 (GRCm38)	missense	probably damaging	1.00
R2128:Knl1	UTSW	2	119,071,819 (GRCm38)	missense	possibly damaging	0.79
R2170:Knl1	UTSW	2	119,087,594 (GRCm38)	critical splice donor site	probably null
R2227:Knl1	UTSW	2	119,072,000 (GRCm38)	missense	probably damaging	0.97
R2246:Knl1	UTSW	2	119,072,227 (GRCm38)	missense	probably damaging	1.00
R2275:Knl1	UTSW	2	119,072,281 (GRCm38)	missense	probably damaging	0.99
R2508:Knl1	UTSW	2	119,058,368 (GRCm38)	nonsense	probably null
R3115:Knl1	UTSW	2	119,070,391 (GRCm38)	missense	possibly damaging	0.53
R3122:Knl1	UTSW	2	119,068,944 (GRCm38)	missense	probably benign	0.32
R3431:Knl1	UTSW	2	119,062,362 (GRCm38)	missense	probably damaging	1.00
R3755:Knl1	UTSW	2	119,102,579 (GRCm38)	missense	probably damaging	1.00
R4461:Knl1	UTSW	2	119,059,599 (GRCm38)	missense	probably benign	0.00
R4600:Knl1	UTSW	2	119,070,544 (GRCm38)	missense	possibly damaging	0.90
R4713:Knl1	UTSW	2	119,069,137 (GRCm38)	nonsense	probably null
R4758:Knl1	UTSW	2	119,071,732 (GRCm38)	frame shift	probably null
R4762:Knl1	UTSW	2	119,071,936 (GRCm38)	missense	probably benign	0.01
R4869:Knl1	UTSW	2	119,072,351 (GRCm38)	missense	possibly damaging	0.73
R4870:Knl1	UTSW	2	119,081,513 (GRCm38)	missense	probably benign	0.22
R4935:Knl1	UTSW	2	119,068,957 (GRCm38)	missense	possibly damaging	0.50
R5167:Knl1	UTSW	2	119,070,031 (GRCm38)	missense	probably damaging	1.00
R5184:Knl1	UTSW	2	119,069,176 (GRCm38)	missense	probably damaging	1.00
R5293:Knl1	UTSW	2	119,069,695 (GRCm38)	missense	probably damaging	0.99
R5326:Knl1	UTSW	2	119,068,348 (GRCm38)	missense	possibly damaging	0.66
R5331:Knl1	UTSW	2	119,070,255 (GRCm38)	missense	possibly damaging	0.92
R5353:Knl1	UTSW	2	119,070,983 (GRCm38)	missense	probably benign	0.01
R5493:Knl1	UTSW	2	119,068,730 (GRCm38)	missense	probably damaging	0.98
R5542:Knl1	UTSW	2	119,068,348 (GRCm38)	missense	possibly damaging	0.66
R5632:Knl1	UTSW	2	119,070,352 (GRCm38)	missense	probably damaging	1.00
R5650:Knl1	UTSW	2	119,081,550 (GRCm38)	nonsense	probably null
R5854:Knl1	UTSW	2	119,070,403 (GRCm38)	missense	probably benign	0.02
R5979:Knl1	UTSW	2	119,069,360 (GRCm38)	missense	possibly damaging	0.83
R6283:Knl1	UTSW	2	119,070,286 (GRCm38)	missense	probably damaging	1.00
R6285:Knl1	UTSW	2	119,071,941 (GRCm38)	missense	probably damaging	1.00
R6313:Knl1	UTSW	2	119,069,318 (GRCm38)	missense	probably damaging	1.00
R6419:Knl1	UTSW	2	119,069,003 (GRCm38)	missense	probably benign	0.02
R6608:Knl1	UTSW	2	119,086,612 (GRCm38)	missense	probably damaging	0.99
R6881:Knl1	UTSW	2	119,095,184 (GRCm38)	missense	possibly damaging	0.67
R7161:Knl1	UTSW	2	119,070,785 (GRCm38)	missense	possibly damaging	0.79
R7206:Knl1	UTSW	2	119,069,299 (GRCm38)	missense	probably benign	0.35
R7270:Knl1	UTSW	2	119,102,522 (GRCm38)	missense	possibly damaging	0.53
R7276:Knl1	UTSW	2	119,071,686 (GRCm38)	missense	probably damaging	0.98
R7358:Knl1	UTSW	2	119,070,559 (GRCm38)	missense	possibly damaging	0.92
R7402:Knl1	UTSW	2	119,095,226 (GRCm38)	nonsense	probably null
R7408:Knl1	UTSW	2	119,070,592 (GRCm38)	missense	possibly damaging	0.54
R7475:Knl1	UTSW	2	119,087,546 (GRCm38)	missense	probably damaging	1.00
R7516:Knl1	UTSW	2	119,070,698 (GRCm38)	missense	probably damaging	0.99
R7524:Knl1	UTSW	2	119,065,979 (GRCm38)	missense	probably damaging	1.00
R7559:Knl1	UTSW	2	119,094,006 (GRCm38)	missense	possibly damaging	0.84
R7607:Knl1	UTSW	2	119,095,133 (GRCm38)	missense	possibly damaging	0.93
R7745:Knl1	UTSW	2	119,071,556 (GRCm38)	missense	probably benign	0.13
R7847:Knl1	UTSW	2	119,070,976 (GRCm38)	missense	probably benign	0.02
R8423:Knl1	UTSW	2	119,070,032 (GRCm38)	missense	probably damaging	1.00
R8725:Knl1	UTSW	2	119,069,043 (GRCm38)	missense	probably benign	0.34
R8727:Knl1	UTSW	2	119,069,043 (GRCm38)	missense	probably benign	0.34
R8995:Knl1	UTSW	2	119,072,509 (GRCm38)	missense	probably benign	0.11
R9023:Knl1	UTSW	2	119,070,280 (GRCm38)	missense	probably benign	0.27
R9100:Knl1	UTSW	2	119,068,988 (GRCm38)	missense	probably benign	0.02
R9102:Knl1	UTSW	2	119,087,492 (GRCm38)	missense	probably benign	0.22
R9303:Knl1	UTSW	2	119,068,348 (GRCm38)	missense	possibly damaging	0.83
R9400:Knl1	UTSW	2	119,100,743 (GRCm38)	missense	probably damaging	0.98
R9426:Knl1	UTSW	2	119,069,498 (GRCm38)	missense	possibly damaging	0.81
R9583:Knl1	UTSW	2	119,057,301 (GRCm38)	missense	probably damaging	1.00
R9616:Knl1	UTSW	2	119,076,944 (GRCm38)	missense	probably damaging	1.00
R9616:Knl1	UTSW	2	119,069,513 (GRCm38)	missense	probably benign	0.02
R9671:Knl1	UTSW	2	119,070,608 (GRCm38)	missense	probably damaging	1.00
R9766:Knl1	UTSW	2	119,069,900 (GRCm38)	missense	probably damaging	1.00
R9782:Knl1	UTSW	2	119,069,429 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGGACTTTATTGGCAGAGGATG -3'
(R):5'- TAGCTGACCTCTGAAGCTCC -3'

Posted On

2017-07-14