Mutagenetix > Incidental Mutation

Incidental Mutation 'NA:Kansl1'

620

Institutional Source

Beutler Lab

Gene Symbol

Kansl1

Ensembl Gene

ENSMUSG00000018412

Gene Name

KAT8 regulatory NSL complex subunit 1

Synonyms

1700081L11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

NA (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

104224055-104359687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104233193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 778 (T778I)

Ref Sequence

ENSEMBL: ENSMUSP00000102590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018556] [ENSMUST00000106971] [ENSMUST00000106972] [ENSMUST00000106977]

AlphaFold

Q80TG1

Predicted Effect

probably benign
Transcript: ENSMUST00000018556
AA Change: T778I

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: T778I

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
coiled coil region	283	311	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	759	772	N/A	INTRINSIC
PEHE	816	966	1.53e-53	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069188

Predicted Effect

probably benign
Transcript: ENSMUST00000106971
AA Change: T841I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: T841I

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
coiled coil region	283	311	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	822	835	N/A	INTRINSIC
PEHE	879	1029	1.53e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106972
AA Change: T841I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: T841I

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
coiled coil region	283	311	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	822	835	N/A	INTRINSIC
PEHE	879	1029	1.53e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106977
AA Change: T778I

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: T778I

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
coiled coil region	283	311	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	759	772	N/A	INTRINSIC
PEHE	816	966	1.53e-53	SMART

Meta Mutation Damage Score

0.0706

Coding Region Coverage

1x: 83.4%
3x: 67.1%

Het Detection Efficiency

45.4%

Validation Efficiency

80% (107/134)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]

Allele List at MGI

All alleles(136) : Gene trapped(136)

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cep350	G	A	1: 155,834,394 (GRCm39)	S101F	probably damaging	Het
Ctnnal1	C	T	4: 56,817,044 (GRCm39)	V593I	probably benign	Het
Ftsj3	C	A	11: 106,145,634 (GRCm39)	M66I	possibly damaging	Het
Igf2r	C	T	17: 12,910,849 (GRCm39)	V1990I	probably benign	Het
Mast4	G	A	13: 102,878,565 (GRCm39)	T1031I	probably damaging	Het
Pcna	A	G	2: 132,091,804 (GRCm39)	M199T	probably benign	Het
Trip11	C	T	12: 101,860,580 (GRCm39)		probably null	Het

Other mutations in Kansl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Kansl1	APN	11	104,315,292 (GRCm39)	missense	probably damaging	0.96
IGL00658:Kansl1	APN	11	104,248,352 (GRCm39)	missense	probably benign	0.10
IGL00688:Kansl1	APN	11	104,315,892 (GRCm39)	missense	probably damaging	1.00
IGL01121:Kansl1	APN	11	104,226,422 (GRCm39)	missense	probably benign	0.01
IGL01624:Kansl1	APN	11	104,315,378 (GRCm39)	missense	probably benign	0.13
IGL02187:Kansl1	APN	11	104,269,657 (GRCm39)	splice site	probably null
IGL02711:Kansl1	APN	11	104,226,401 (GRCm39)	missense	probably damaging	1.00
IGL02965:Kansl1	APN	11	104,225,991 (GRCm39)	missense	probably damaging	0.99
kansas	UTSW	11	104,314,958 (GRCm39)	missense	possibly damaging	0.94
wichita	UTSW	11	104,247,593 (GRCm39)	missense	possibly damaging	0.90
R0399:Kansl1	UTSW	11	104,314,958 (GRCm39)	missense	possibly damaging	0.94
R0611:Kansl1	UTSW	11	104,229,012 (GRCm39)	missense	probably benign	0.31
R0665:Kansl1	UTSW	11	104,234,364 (GRCm39)	missense	probably benign
R0667:Kansl1	UTSW	11	104,234,364 (GRCm39)	missense	probably benign
R0747:Kansl1	UTSW	11	104,233,802 (GRCm39)	missense	probably benign	0.00
R0865:Kansl1	UTSW	11	104,315,194 (GRCm39)	missense	probably benign	0.08
R1479:Kansl1	UTSW	11	104,233,242 (GRCm39)	missense	probably damaging	1.00
R1679:Kansl1	UTSW	11	104,314,822 (GRCm39)	missense	probably damaging	1.00
R1818:Kansl1	UTSW	11	104,233,283 (GRCm39)	missense	possibly damaging	0.80
R1922:Kansl1	UTSW	11	104,234,466 (GRCm39)	missense	probably damaging	1.00
R1932:Kansl1	UTSW	11	104,225,923 (GRCm39)	missense	probably damaging	0.99
R2105:Kansl1	UTSW	11	104,226,385 (GRCm39)	missense	probably damaging	0.98
R2907:Kansl1	UTSW	11	104,315,286 (GRCm39)	missense	possibly damaging	0.82
R3935:Kansl1	UTSW	11	104,234,369 (GRCm39)	missense	possibly damaging	0.83
R3936:Kansl1	UTSW	11	104,234,369 (GRCm39)	missense	possibly damaging	0.83
R4282:Kansl1	UTSW	11	104,269,515 (GRCm39)	missense	probably benign	0.19
R4455:Kansl1	UTSW	11	104,315,184 (GRCm39)	missense	possibly damaging	0.47
R4696:Kansl1	UTSW	11	104,247,593 (GRCm39)	missense	possibly damaging	0.90
R4846:Kansl1	UTSW	11	104,233,798 (GRCm39)	missense	possibly damaging	0.48
R4890:Kansl1	UTSW	11	104,233,868 (GRCm39)	missense	probably benign
R4973:Kansl1	UTSW	11	104,315,147 (GRCm39)	missense	probably damaging	1.00
R4975:Kansl1	UTSW	11	104,226,390 (GRCm39)	missense	probably damaging	1.00
R5085:Kansl1	UTSW	11	104,315,168 (GRCm39)	missense	probably damaging	1.00
R5227:Kansl1	UTSW	11	104,247,640 (GRCm39)	missense	probably benign	0.19
R5310:Kansl1	UTSW	11	104,315,684 (GRCm39)	missense	possibly damaging	0.95
R5652:Kansl1	UTSW	11	104,228,992 (GRCm39)	missense	probably damaging	1.00
R5677:Kansl1	UTSW	11	104,225,974 (GRCm39)	missense	probably benign	0.00
R5980:Kansl1	UTSW	11	104,234,463 (GRCm39)	missense	possibly damaging	0.96
R6013:Kansl1	UTSW	11	104,241,465 (GRCm39)	missense	probably benign	0.00
R6253:Kansl1	UTSW	11	104,248,352 (GRCm39)	missense	probably benign	0.10
R7751:Kansl1	UTSW	11	104,314,890 (GRCm39)	missense	probably benign	0.30
R7880:Kansl1	UTSW	11	104,314,979 (GRCm39)	missense	probably damaging	1.00
R7888:Kansl1	UTSW	11	104,233,248 (GRCm39)	missense	probably benign	0.00
R7935:Kansl1	UTSW	11	104,315,112 (GRCm39)	missense	probably damaging	0.99
R8251:Kansl1	UTSW	11	104,315,186 (GRCm39)	missense	probably benign
R9033:Kansl1	UTSW	11	104,248,356 (GRCm39)	missense	probably benign	0.00
R9192:Kansl1	UTSW	11	104,227,142 (GRCm39)	missense	probably damaging	1.00
R9494:Kansl1	UTSW	11	104,247,566 (GRCm39)	missense	probably benign	0.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to T transition at position 2983 of the 1700081L11Rik transcript in exon 5 of 38 exons using Genbank record NM_001081045.1. Multiple transcripts of the 1700081L11Rik gene are displayed on Ensembl and Vega. The mutated nucleotide causes a threonine to isoleucine substitution at amino acid 778 of the encoded protein (841 in Ensembl record ENSMUST00000106972). The mutation has been confirmed by DNA sequencing using the Sanger method.

Protein Function and Prediction

The 1700081L11Rik gene encodes a 1036 amino acid component of the histone-lysine N-methyltransferase MLL1/MLL complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). Multiple isoforms of the protein are displayed on Uniprot (Uniprot Q80TG1).

Posted On

2011-03-23