Mutagenetix > Incidental Mutation

Incidental Mutation 'R0284:Nsl1'

24573

Institutional Source

Beutler Lab

Gene Symbol

Nsl1

Ensembl Gene

ENSMUSG00000062510

Gene Name

NSL1, MIS12 kinetochore complex component

Synonyms

LOC381318, 4833432M17Rik

MMRRC Submission

038505-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

190794710-190816755 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 190797427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 97 (E97G)

Ref Sequence

ENSEMBL: ENSMUSP00000115289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027945] [ENSMUST00000076952] [ENSMUST00000078259] [ENSMUST00000085633] [ENSMUST00000110891] [ENSMUST00000110893] [ENSMUST00000139340]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027945

SMART Domains

Protein: ENSMUSP00000027945
Gene: ENSMUSG00000026632

Domain	Start	End	E-Value	Type
Pfam:TatD_DNase	6	263	5e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000076952
AA Change: E97G

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

SMART Domains

Protein: ENSMUSP00000076220
Gene: ENSMUSG00000062510
AA Change: E97G

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 damaging
Transcript: ENSMUST00000078259
AA Change: E97G

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

SMART Domains

Protein: ENSMUSP00000077380
Gene: ENSMUSG00000062510
AA Change: E97G

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: ENSMUST00000085633

SMART Domains

Protein: ENSMUSP00000082773
Gene: ENSMUSG00000026632

Domain	Start	End	E-Value	Type
Pfam:TatD_DNase	6	170	1.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110891

SMART Domains

Protein: ENSMUSP00000106516
Gene: ENSMUSG00000026632

Domain	Start	End	E-Value	Type
Pfam:TatD_DNase	6	231	2.3e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110893

SMART Domains

Protein: ENSMUSP00000106518
Gene: ENSMUSG00000026632

Domain	Start	End	E-Value	Type
Pfam:TatD_DNase	6	264	1.8e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000139340
AA Change: E97G

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

SMART Domains

Protein: ENSMUSP00000115289
Gene: ENSMUSG00000062510
AA Change: E97G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143876

Meta Mutation Damage Score

0.9373

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.4%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh6	A	G	7: 30,013,413 (GRCm39)	T161A	probably benign	Het
Alox12e	A	G	11: 70,211,725 (GRCm39)		probably benign	Het
Ap1g2	A	G	14: 55,339,149 (GRCm39)		probably benign	Het
Arid2	A	T	15: 96,276,848 (GRCm39)		probably benign	Het
Bmp2k	A	T	5: 97,216,314 (GRCm39)	H604L	unknown	Het
Cacna1a	A	T	8: 85,338,914 (GRCm39)	M1705L	probably damaging	Het
Cacna1d	A	T	14: 29,794,062 (GRCm39)	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,467,975 (GRCm39)	R107G	possibly damaging	Het
Cklf	T	C	8: 104,988,207 (GRCm39)		probably benign	Het
Crabp1	A	G	9: 54,672,210 (GRCm39)	K9E	probably benign	Het
Cspg4	A	G	9: 56,793,423 (GRCm39)	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,515,014 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,464,684 (GRCm39)	V393E	probably damaging	Het
Ednrb	C	T	14: 104,057,449 (GRCm39)	G371D	probably damaging	Het
Efcab5	T	C	11: 76,994,353 (GRCm39)		probably benign	Het
Exoc2	A	T	13: 31,061,608 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,183,362 (GRCm39)		probably benign	Het
Foxo6	T	C	4: 120,126,199 (GRCm39)	S199G	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Gk5	A	T	9: 96,063,823 (GRCm39)		probably null	Het
Gys1	A	T	7: 45,086,143 (GRCm39)		probably benign	Het
Igfbp1	T	C	11: 7,148,103 (GRCm39)	S49P	probably damaging	Het
Incenp	A	T	19: 9,871,357 (GRCm39)	S91T	unknown	Het
Itpkc	G	A	7: 26,913,968 (GRCm39)	R498*	probably null	Het
Kat6a	A	G	8: 23,429,819 (GRCm39)	T1725A	unknown	Het
Kiz	T	A	2: 146,705,730 (GRCm39)	C97S	probably benign	Het
Kri1	A	G	9: 21,187,848 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,058,106 (GRCm39)	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,602,967 (GRCm39)	T881A	probably damaging	Het
Man1a2	T	C	3: 100,592,102 (GRCm39)	H26R	probably damaging	Het
Map3k5	T	A	10: 19,876,359 (GRCm39)	F173I	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	A	G	12: 57,503,855 (GRCm39)	Q341R	probably damaging	Het
Mllt6	G	T	11: 97,569,431 (GRCm39)	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nipsnap3a	C	T	4: 52,997,178 (GRCm39)	T150I	probably benign	Het
Or11j4	G	A	14: 50,630,452 (GRCm39)	V80M	probably damaging	Het
Or4f54	T	C	2: 111,122,931 (GRCm39)	V106A	probably benign	Het
Or7g18	A	T	9: 18,786,848 (GRCm39)	Y72F	probably benign	Het
Or8c11	G	A	9: 38,289,880 (GRCm39)	M234I	probably benign	Het
Pakap	T	C	4: 57,855,207 (GRCm39)	F220L	probably damaging	Het
Pdcd6ip	A	G	9: 113,491,572 (GRCm39)	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,332,622 (GRCm39)	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,040,659 (GRCm39)	E608D	probably damaging	Het
Prpf40b	A	T	15: 99,214,274 (GRCm39)		probably benign	Het
Rag2	T	C	2: 101,460,464 (GRCm39)	V258A	probably damaging	Het
S100a5	A	G	3: 90,518,881 (GRCm39)	I68V	probably benign	Het
Serpinb8	G	A	1: 107,530,648 (GRCm39)		probably null	Het
Slc24a4	T	C	12: 102,226,740 (GRCm39)	V492A	probably damaging	Het
Spag6l	T	A	16: 16,598,630 (GRCm39)	Q287L	probably damaging	Het
Spmip6	T	G	4: 41,507,538 (GRCm39)	E150A	probably damaging	Het
Synpo2	C	T	3: 122,873,383 (GRCm39)	W211*	probably null	Het
Tgtp1	A	G	11: 48,877,970 (GRCm39)	V245A	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,630,471 (GRCm39)		noncoding transcript	Het
Ttn	G	C	2: 76,677,048 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps13d	A	T	4: 144,871,372 (GRCm39)	M1900K	probably benign	Het
Vps41	A	T	13: 19,037,610 (GRCm39)	D691V	probably damaging	Het
Zfp518b	T	C	5: 38,829,083 (GRCm39)	Y974C	probably damaging	Het
Zscan29	A	T	2: 120,997,214 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCCATTCCAGTTCACCAAGAGTCCA -3'
(R):5'- GGGGCCTGTCCATTCTCTGGTA -3'

Sequencing Primer
(F):5'- CGCGTTTGAGTTCTGTGTCA -3'
(R):5'- acaaggggaacaggggg -3'

Posted On

2013-04-16