Mutagenetix > Incidental Mutation

Incidental Mutation 'R5838:Nsl1'

449695

Institutional Source

Beutler Lab

Gene Symbol

Nsl1

Ensembl Gene

ENSMUSG00000062510

Gene Name

NSL1, MIS12 kinetochore complex component

Synonyms

LOC381318, 4833432M17Rik

MMRRC Submission

044058-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

190794710-190816755 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 190802310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 146 (A146E)

Ref Sequence

ENSEMBL: ENSMUSP00000076220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076952] [ENSMUST00000078259] [ENSMUST00000139340]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000076952
AA Change: A146E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000076220
Gene: ENSMUSG00000062510
AA Change: A146E

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:Mis14	67	170	1.6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078259
AA Change: A146E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000077380
Gene: ENSMUSG00000062510
AA Change: A146E

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:Mis14	82	197	2.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139340
AA Change: A146E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000115289
Gene: ENSMUSG00000062510
AA Change: A146E

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:Mis14	67	171	7e-27	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

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 with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,863,706 (GRCm39)	V385I	probably benign	Het
Apmap	T	C	2: 150,427,777 (GRCm39)	Y315C	probably damaging	Het
Arhgef12	G	A	9: 42,916,904 (GRCm39)	T414I	probably damaging	Het
Cd200r1	C	A	16: 44,586,397 (GRCm39)	A9D	possibly damaging	Het
Cdkal1	T	C	13: 29,875,669 (GRCm39)	D183G	probably benign	Het
Clk1	C	A	1: 58,451,819 (GRCm39)	C432F	probably damaging	Het
Col27a1	G	T	4: 63,143,765 (GRCm39)	L484F	probably damaging	Het
Col7a1	A	G	9: 108,807,211 (GRCm39)	E2480G	unknown	Het
Dnah5	A	G	15: 28,290,341 (GRCm39)	I1244V	probably benign	Het
Dock3	G	T	9: 106,772,687 (GRCm39)	P522Q	possibly damaging	Het
Drc1	T	A	5: 30,523,857 (GRCm39)		probably null	Het
Epas1	C	T	17: 87,131,114 (GRCm39)	T298I	possibly damaging	Het
Epha1	A	T	6: 42,338,580 (GRCm39)	I699N	probably damaging	Het
Ephb3	T	C	16: 21,040,437 (GRCm39)	S558P	probably damaging	Het
Epn1	T	A	7: 5,100,165 (GRCm39)	L426*	probably null	Het
Fam234b	T	C	6: 135,202,265 (GRCm39)	V329A	probably benign	Het
Fasn	G	T	11: 120,706,950 (GRCm39)	R901S	probably damaging	Het
Fbln2	T	C	6: 91,248,830 (GRCm39)	M1165T	possibly damaging	Het
Fer1l4	T	C	2: 155,893,913 (GRCm39)	R103G	probably benign	Het
G6pd2	T	A	5: 61,966,568 (GRCm39)	D114E	probably benign	Het
Galnt10	A	G	11: 57,671,882 (GRCm39)	K391E	probably damaging	Het
Gpr150	C	A	13: 76,204,045 (GRCm39)	C300F	probably benign	Het
Hhipl2	A	G	1: 183,204,479 (GRCm39)	T151A	probably damaging	Het
Hmcn2	C	A	2: 31,347,819 (GRCm39)	L4822M	probably damaging	Het
Ifi207	T	A	1: 173,559,953 (GRCm39)	Q173L	unknown	Het
Inca1	T	C	11: 70,580,707 (GRCm39)	E86G	probably damaging	Het
Iqca1	A	G	1: 90,072,667 (GRCm39)	L71P	probably benign	Het
Kank2	G	T	9: 21,706,689 (GRCm39)	Q110K	probably damaging	Het
Katnip	A	T	7: 125,466,827 (GRCm39)	M1361L	possibly damaging	Het
Kif13b	A	T	14: 64,975,004 (GRCm39)	M407L	probably damaging	Het
Kif5a	A	C	10: 127,081,310 (GRCm39)	I208S	probably damaging	Het
Kmt2c	T	C	5: 25,489,469 (GRCm39)	K4490R	probably damaging	Het
Ltbp2	C	T	12: 84,835,875 (GRCm39)	R1352H	probably benign	Het
Macf1	T	C	4: 123,345,947 (GRCm39)	Q2061R	possibly damaging	Het
Marcks	A	G	10: 37,012,163 (GRCm39)	S291P	probably benign	Het
Mccc1	A	G	3: 36,039,231 (GRCm39)	V254A	possibly damaging	Het
Mdn1	C	T	4: 32,754,547 (GRCm39)	R4683W	probably damaging	Het
Mon2	A	G	10: 122,846,397 (GRCm39)		probably null	Het
Ndrg4	A	T	8: 96,433,421 (GRCm39)	H134L	probably damaging	Het
Nek7	C	A	1: 138,462,101 (GRCm39)		probably null	Het
Nlrc3	C	T	16: 3,771,859 (GRCm39)	S151N	probably damaging	Het
Or10a3n	A	T	7: 108,493,292 (GRCm39)	F107L	probably benign	Het
Or2y1e	A	C	11: 49,218,760 (GRCm39)	N174T	probably damaging	Het
Or52ac1	A	G	7: 104,246,104 (GRCm39)	Y95H	probably benign	Het
Or5b120	T	A	19: 13,479,922 (GRCm39)	Y72N	probably damaging	Het
Or6c210	A	T	10: 129,495,907 (GRCm39)	R77S	probably benign	Het
Pde4d	A	C	13: 109,876,976 (GRCm39)	S41R	probably damaging	Het
Phlpp1	T	A	1: 106,274,862 (GRCm39)	L875*	probably null	Het
Pkd1	T	A	17: 24,799,186 (GRCm39)	S2802T	possibly damaging	Het
Polr3b	A	G	10: 84,510,454 (GRCm39)	T500A	probably benign	Het
Ppp2r2c	T	C	5: 37,097,531 (GRCm39)	V239A	probably benign	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Reln	T	A	5: 22,104,111 (GRCm39)	I3287F	probably damaging	Het
Scube2	T	C	7: 109,407,651 (GRCm39)	D763G	probably damaging	Het
Setd5	T	C	6: 113,096,396 (GRCm39)	V534A	probably benign	Het
Slc10a4	T	A	5: 73,169,373 (GRCm39)	C333S	probably benign	Het
Slc15a1	G	A	14: 121,722,283 (GRCm39)	A206V	probably damaging	Het
Snx14	A	G	9: 88,273,829 (GRCm39)	L654P	probably damaging	Het
Sowahc	G	A	10: 59,059,012 (GRCm39)	A383T	possibly damaging	Het
Taf1b	A	G	12: 24,550,448 (GRCm39)	D11G	possibly damaging	Het
Tap1	C	T	17: 34,412,279 (GRCm39)	Q164*	probably null	Het
Tbcel	T	A	9: 42,327,168 (GRCm39)	R430W	probably damaging	Het
Trappc11	A	T	8: 47,965,594 (GRCm39)		probably null	Het
Trim15	T	C	17: 37,173,732 (GRCm39)	I259V	probably damaging	Het
Trpt1	T	C	19: 6,975,668 (GRCm39)	S141P	probably damaging	Het
Tsc2	T	A	17: 24,832,190 (GRCm39)	Q732L	probably benign	Het
Tstd3	C	A	4: 21,759,622 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,955,451 (GRCm39)	K914R	possibly damaging	Het
Unk	A	G	11: 115,940,157 (GRCm39)	E170G	probably damaging	Het
Uqcc2	T	A	17: 27,344,860 (GRCm39)	K62*	probably null	Het
Vim	A	G	2: 13,585,001 (GRCm39)	D394G	probably damaging	Het
Wdr47	G	A	3: 108,532,052 (GRCm39)		probably null	Het

Other mutations in Nsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02546:Nsl1	APN	1	190,803,398 (GRCm39)	missense	probably benign	0.06
IGL03398:Nsl1	APN	1	190,814,361 (GRCm39)	splice site	probably benign
IGL02988:Nsl1	UTSW	1	190,795,300 (GRCm39)	nonsense	probably null
R0054:Nsl1	UTSW	1	190,814,381 (GRCm39)	missense	probably damaging	1.00
R0054:Nsl1	UTSW	1	190,814,381 (GRCm39)	missense	probably damaging	1.00
R0284:Nsl1	UTSW	1	190,797,427 (GRCm39)	missense	probably damaging	1.00
R0482:Nsl1	UTSW	1	190,795,237 (GRCm39)	start codon destroyed	probably null	0.83
R1776:Nsl1	UTSW	1	190,795,385 (GRCm39)	missense	probably benign
R5187:Nsl1	UTSW	1	190,807,387 (GRCm39)	missense	probably benign	0.01
R5470:Nsl1	UTSW	1	190,812,737 (GRCm39)	missense	probably benign	0.24
R6133:Nsl1	UTSW	1	190,803,403 (GRCm39)	missense	probably damaging	0.99
R6636:Nsl1	UTSW	1	190,807,324 (GRCm39)	missense	probably benign	0.00
R6817:Nsl1	UTSW	1	190,795,471 (GRCm39)	critical splice donor site	probably null
R7755:Nsl1	UTSW	1	190,795,380 (GRCm39)	missense	probably benign	0.21
R8506:Nsl1	UTSW	1	190,808,832 (GRCm39)	missense	unknown
R8710:Nsl1	UTSW	1	190,795,420 (GRCm39)	missense	probably benign	0.00
R8731:Nsl1	UTSW	1	190,814,609 (GRCm39)	missense	probably damaging	1.00
Z1177:Nsl1	UTSW	1	190,795,428 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGTTAACCTGCCATGTTTG -3'
(R):5'- AGGGCTCATTTGCATTTACTCCAG -3'

Sequencing Primer
(F):5'- GTTAACCTGCCATGTTTGTTTTC -3'
(R):5'- TCCAGTTTCAATAATTCTGAGAAGAC -3'

Posted On

2016-12-20