Mutagenetix > Incidental Mutation

Incidental Mutation 'R5470:Nsl1'

433441

Institutional Source

Beutler Lab

Gene Symbol

Nsl1

Ensembl Gene

ENSMUSG00000062510

Gene Name

NSL1, MIS12 kinetochore complex component

Synonyms

LOC381318, 4833432M17Rik

MMRRC Submission

043031-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5470 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

190794710-190816755 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 190812737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 184 (M184T)

Ref Sequence

ENSEMBL: ENSMUSP00000077380 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000078259
AA Change: M184T

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077380
Gene: ENSMUSG00000062510
AA Change: M184T

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

SMART Domains

Protein: ENSMUSP00000115289
Gene: ENSMUSG00000062510

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: ENSMUST00000192879

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (79/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,715 (GRCm39)	I813F	probably damaging	Het
Aqr	G	A	2: 113,988,056 (GRCm39)	L169F	probably damaging	Het
Atp6v1d	G	A	12: 78,892,058 (GRCm39)	R182C	probably benign	Het
Bcl2l13	G	T	6: 120,839,833 (GRCm39)	A44S	probably benign	Het
Brip1	T	C	11: 86,039,368 (GRCm39)	K389E	possibly damaging	Het
C530025M09Rik	G	A	2: 149,673,045 (GRCm39)		probably benign	Het
Ccdc7b	T	A	8: 129,799,081 (GRCm39)	S53T	possibly damaging	Het
Chd8	A	G	14: 52,450,066 (GRCm39)	F154L	probably damaging	Het
Cop1	A	T	1: 159,094,430 (GRCm39)		probably benign	Het
Cyp2c39	A	G	19: 39,501,974 (GRCm39)	K121R	possibly damaging	Het
Cyp3a57	A	G	5: 145,309,429 (GRCm39)	M256V	probably benign	Het
Deup1	T	C	9: 15,493,916 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,830,232 (GRCm39)	N709D	probably benign	Het
Dthd1	A	G	5: 62,976,109 (GRCm39)	Y261C	probably damaging	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
En2	C	T	5: 28,371,922 (GRCm39)	T133M	probably benign	Het
Endou	A	G	15: 97,616,836 (GRCm39)	F229S	probably damaging	Het
Etl4	A	T	2: 20,534,791 (GRCm39)	H79L	probably damaging	Het
Fah	C	T	7: 84,242,393 (GRCm39)		probably null	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fignl1	T	A	11: 11,752,640 (GRCm39)	E138D	probably benign	Het
Fndc3a	A	G	14: 72,812,008 (GRCm39)	L311P	possibly damaging	Het
Gdf9	T	A	11: 53,327,581 (GRCm39)	V179E	probably benign	Het
Gm14129	G	T	2: 148,769,737 (GRCm39)		noncoding transcript	Het
Gorab	A	G	1: 163,220,078 (GRCm39)	I188T	probably damaging	Het
Gpr152	G	A	19: 4,193,128 (GRCm39)	C223Y	probably damaging	Het
Heatr5b	A	T	17: 79,129,008 (GRCm39)		probably null	Het
Hsd17b3	G	T	13: 64,221,713 (GRCm39)	T104N	probably damaging	Het
Il6ra	C	T	3: 89,793,302 (GRCm39)	V283M	probably benign	Het
Klk1b16	A	T	7: 43,786,755 (GRCm39)	I5F	probably damaging	Het
Krt74	G	A	15: 101,662,900 (GRCm39)		noncoding transcript	Het
Lrch3	T	A	16: 32,818,960 (GRCm39)	N650K	probably damaging	Het
Ly96	A	T	1: 16,779,710 (GRCm39)	E126D	probably benign	Het
Mgarp	C	A	3: 51,298,706 (GRCm39)	R66L	possibly damaging	Het
Naalad2	T	A	9: 18,242,147 (GRCm39)	T586S	probably damaging	Het
Ndufaf3	T	C	9: 108,443,643 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,139,450 (GRCm39)	M3055T	possibly damaging	Het
Neo1	G	T	9: 58,838,350 (GRCm39)	A478D	probably damaging	Het
Nmrk1	A	T	19: 18,617,248 (GRCm39)		probably null	Het
Nup133	T	C	8: 124,657,705 (GRCm39)	N410S	probably benign	Het
Opalin	A	G	19: 41,054,970 (GRCm39)	S75P	probably benign	Het
Or1e17	T	C	11: 73,831,696 (GRCm39)	I208T	probably benign	Het
Or3a4	A	G	11: 73,944,733 (GRCm39)	I284T	possibly damaging	Het
Or51ag1	T	G	7: 103,155,716 (GRCm39)	I146L	probably benign	Het
Palb2	C	A	7: 121,713,574 (GRCm39)	C903F	probably damaging	Het
Pcm1	T	A	8: 41,740,720 (GRCm39)	W989R	probably damaging	Het
Pfkfb4	T	A	9: 108,856,661 (GRCm39)	I389N	probably damaging	Het
Pitrm1	T	C	13: 6,603,306 (GRCm39)	C119R	probably benign	Het
Plekha1	T	C	7: 130,510,106 (GRCm39)	V45A	probably damaging	Het
Pold2	G	A	11: 5,823,048 (GRCm39)	P376S	probably damaging	Het
Rcan2	A	G	17: 44,147,174 (GRCm39)	D4G	probably benign	Het
Slc12a1	A	T	2: 125,012,634 (GRCm39)	T299S	probably damaging	Het
Slc22a29	A	T	19: 8,138,880 (GRCm39)	H527Q	probably benign	Het
Slc22a8	G	A	19: 8,585,234 (GRCm39)	R261H	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slco4a1	T	C	2: 180,115,907 (GRCm39)	F681S	probably benign	Het
Sorcs2	A	T	5: 36,188,527 (GRCm39)	H860Q	probably benign	Het
Strn	A	T	17: 78,964,374 (GRCm39)	H530Q	probably benign	Het
Tex14	A	G	11: 87,442,430 (GRCm39)	R179G	probably damaging	Het
Tjp3	T	C	10: 81,115,381 (GRCm39)	D350G	probably benign	Het
Tnrc6b	G	T	15: 80,800,912 (GRCm39)	R1406L	possibly damaging	Het
Tnxb	A	G	17: 34,935,947 (GRCm39)	D2666G	probably null	Het
Ttn	A	T	2: 76,560,208 (GRCm39)	Y27652N	probably benign	Het
Utp20	T	A	10: 88,653,758 (GRCm39)	E287D	probably benign	Het
Vmn1r45	T	C	6: 89,910,698 (GRCm39)	I91V	probably benign	Het
Wdr72	A	T	9: 74,046,981 (GRCm39)	K76*	probably null	Het
Zfp689	C	T	7: 127,043,425 (GRCm39)	A402T	probably damaging	Het
Zfpm1	A	G	8: 123,060,532 (GRCm39)	E207G	probably damaging	Het
Zhx2	G	T	15: 57,686,470 (GRCm39)	R613L	possibly 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
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
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'- CCGACCAAGCTCTTAGAAAGATTAG -3'
(R):5'- ATGACCTCACTGGAGAAGCC -3'

Sequencing Primer
(F):5'- AAAGATTAGAATAAGGTGAGTTGTCC -3'
(R):5'- ACACACAGCTTCTGGGACCTG -3'

Posted On

2016-10-06