Mutagenetix > Incidental Mutation

Incidental Mutation 'R0054:Nsl1'

17314

Institutional Source

Beutler Lab

Gene Symbol

Nsl1

Ensembl Gene

ENSMUSG00000062510

Gene Name

NSL1, MIS12 kinetochore complex component

Synonyms

LOC381318, 4833432M17Rik

MMRRC Submission

038348-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R0054 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

190794710-190816755 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 190814381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 194 (L194P)

Ref Sequence

ENSEMBL: ENSMUSP00000077380 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078259
AA Change: L194P

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

SMART Domains

Protein: ENSMUSP00000077380
Gene: ENSMUSG00000062510
AA Change: L194P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192879

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 88.8%
3x: 85.6%
10x: 76.3%
20x: 59.9%

Validation Efficiency

96% (91/95)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,547,500 (GRCm39)		probably null	Het
Apoa4	A	G	9: 46,153,822 (GRCm39)	D141G	probably benign	Het
Atg9a	T	C	1: 75,161,143 (GRCm39)	Y701C	probably damaging	Het
Baz2b	C	T	2: 59,762,510 (GRCm39)	R922Q	probably damaging	Het
Bmal2	T	G	6: 146,731,216 (GRCm39)	V507G	probably benign	Het
Brms1	T	A	19: 5,096,727 (GRCm39)	C136*	probably null	Het
Ccdc180	T	A	4: 45,890,900 (GRCm39)	V24E	probably benign	Het
Clec4f	C	T	6: 83,629,911 (GRCm39)	V216M	probably benign	Het
Cpd	C	G	11: 76,681,664 (GRCm39)	G1160R	probably damaging	Het
Creb5	A	G	6: 53,424,642 (GRCm39)	M128V	probably benign	Het
Ddb2	G	T	2: 91,065,165 (GRCm39)	Q87K	probably benign	Het
Defb41	A	G	1: 18,321,471 (GRCm39)	Y48H	probably damaging	Het
Dido1	T	C	2: 180,303,267 (GRCm39)	N1546D	probably benign	Het
Dmac1	A	G	4: 75,196,337 (GRCm39)	V51A	possibly damaging	Het
Dnajb11	C	T	16: 22,681,369 (GRCm39)	A49V	probably damaging	Het
Dnajc14	G	A	10: 128,643,448 (GRCm39)	D457N	probably damaging	Het
Eif3a	C	A	19: 60,755,264 (GRCm39)	D973Y	unknown	Het
Farsb	T	A	1: 78,439,011 (GRCm39)	K395*	probably null	Het
Fem1b	A	G	9: 62,704,082 (GRCm39)	S393P	probably damaging	Het
Fsip2	A	C	2: 82,817,299 (GRCm39)	N4344T	possibly damaging	Het
Gphn	A	G	12: 78,684,277 (GRCm39)	S558G	probably damaging	Het
Gpr142	C	A	11: 114,689,755 (GRCm39)	H2Q	probably benign	Het
Grhpr	T	C	4: 44,988,915 (GRCm39)		probably benign	Het
Grik3	C	A	4: 125,517,368 (GRCm39)	N70K	probably damaging	Het
Gsap	T	A	5: 21,455,933 (GRCm39)		probably benign	Het
Iars1	T	A	13: 49,846,611 (GRCm39)	C237S	probably damaging	Het
Ighv1-9	A	T	12: 114,547,602 (GRCm39)	F7L	probably benign	Het
Ints8	A	G	4: 11,204,595 (GRCm39)		probably benign	Het
Kcnj16	G	T	11: 110,915,549 (GRCm39)	W70C	probably damaging	Het
Kpna6	T	C	4: 129,551,251 (GRCm39)	M85V	probably benign	Het
Kri1	G	A	9: 21,186,661 (GRCm39)	S447L	probably damaging	Het
Lrp1b	A	G	2: 40,632,829 (GRCm39)	V3528A	probably benign	Het
Lrrc46	A	T	11: 96,929,605 (GRCm39)	L77Q	probably damaging	Het
Mrpl44	T	C	1: 79,757,212 (GRCm39)	L219S	probably damaging	Het
Ms4a14	T	C	19: 11,281,303 (GRCm39)	I418M	probably benign	Het
Myo7a	T	C	7: 97,714,905 (GRCm39)	D112G	probably damaging	Het
Ncoa3	A	G	2: 165,897,098 (GRCm39)	T630A	possibly damaging	Het
Or5ac23	T	C	16: 59,149,428 (GRCm39)	Y148C	possibly damaging	Het
Or8u10	T	C	2: 85,915,705 (GRCm39)	K139E	probably benign	Het
Pde4d	A	G	13: 109,876,955 (GRCm39)	S159G	probably benign	Het
Pi4ka	T	C	16: 17,142,978 (GRCm39)	R845G	probably null	Het
Pld1	A	G	3: 28,150,033 (GRCm39)		probably benign	Het
Psd	T	A	19: 46,311,781 (GRCm39)	I300F	probably damaging	Het
Ptprz1	T	A	6: 22,986,195 (GRCm39)	W332R	probably damaging	Het
Rnf212	T	A	5: 108,893,530 (GRCm39)	M70L	possibly damaging	Het
Sema4f	A	G	6: 82,896,674 (GRCm39)		probably benign	Het
Sez6	C	A	11: 77,844,699 (GRCm39)	T7K	possibly damaging	Het
Skint2	T	C	4: 112,502,660 (GRCm39)	I290T	probably benign	Het
Slc5a3	T	A	16: 91,874,522 (GRCm39)	I193N	probably damaging	Het
Snip1	T	A	4: 124,966,633 (GRCm39)	Y354*	probably null	Het
Tmco5	A	G	2: 116,717,768 (GRCm39)	Y200C	probably damaging	Het
Tmem87b	T	A	2: 128,673,361 (GRCm39)		probably benign	Het
Trim60	T	C	8: 65,453,973 (GRCm39)	E92G	probably benign	Het
Ttn	A	T	2: 76,626,804 (GRCm39)	D13067E	possibly damaging	Het
Ufl1	A	T	4: 25,269,087 (GRCm39)	I168N	probably damaging	Het
Zfp385c	G	A	11: 100,520,782 (GRCm39)	P293S	probably benign	Het
Zfp473	T	A	7: 44,383,899 (GRCm39)	S144C	probably damaging	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
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
R5838:Nsl1	UTSW	1	190,802,310 (GRCm39)	missense	probably benign	0.02
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

Posted On

2013-01-20