Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00825:Kansl1l'

12406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kansl1l

Ensembl Gene

ENSMUSG00000026004

Gene Name

KAT8 regulatory NSL complex subunit 1-like

Synonyms

1110028C15Rik, C430010P07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL00825

Quality Score

Status

Chromosome

Chromosomal Location

66758407-66856721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66840671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 210 (T210A)

Ref Sequence

ENSEMBL: ENSMUSP00000109620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068168] [ENSMUST00000113987]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000068168
AA Change: T210A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: T210A

Domain	Start	End	E-Value	Type
low complexity region	340	355	N/A	INTRINSIC
low complexity region	491	507	N/A	INTRINSIC
low complexity region	518	535	N/A	INTRINSIC
PEHE	755	875	2.42e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113987
AA Change: T210A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
AA Change: T210A

Domain	Start	End	E-Value	Type
low complexity region	340	355	N/A	INTRINSIC
low complexity region	491	507	N/A	INTRINSIC
low complexity region	518	535	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129190

SMART Domains

Protein: ENSMUSP00000118603
Gene: ENSMUSG00000026004

Domain	Start	End	E-Value	Type
low complexity region	31	46	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
low complexity region	174	191	N/A	INTRINSIC
PEHE	455	575	2.42e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194465

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	C	T	18: 10,704,657 (GRCm39)	V129M	probably benign	Het
Casp8	G	A	1: 58,868,165 (GRCm39)	S202N	probably benign	Het
Cimap1c	A	G	9: 56,758,975 (GRCm39)	I60T	probably benign	Het
Clec2g	C	A	6: 128,957,144 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,263,811 (GRCm39)	Y2098H	probably damaging	Het
Dzip3	T	C	16: 48,748,778 (GRCm39)	K1053E	probably damaging	Het
Ern1	T	C	11: 106,312,793 (GRCm39)	K196R	probably benign	Het
Jcad	A	T	18: 4,673,516 (GRCm39)	Y426F	probably damaging	Het
Map2k2	G	A	10: 80,954,052 (GRCm39)	V173I	probably benign	Het
P3h2	A	G	16: 25,811,548 (GRCm39)	I225T	probably damaging	Het
Pld2	G	A	11: 70,442,006 (GRCm39)	W337*	probably null	Het
Ppp2r2b	C	T	18: 42,778,840 (GRCm39)	V429M	probably damaging	Het
Pprc1	G	T	19: 46,059,845 (GRCm39)		probably benign	Het
Ptpn4	A	G	1: 119,587,655 (GRCm39)		probably benign	Het
Rap1gds1	T	A	3: 138,689,588 (GRCm39)	I135F	possibly damaging	Het
Rasa2	A	T	9: 96,452,772 (GRCm39)	N371K	probably benign	Het
Rbbp8	A	G	18: 11,855,664 (GRCm39)	T604A	probably benign	Het
Safb2	A	G	17: 56,878,208 (GRCm39)		probably null	Het
Sec23ip	C	A	7: 128,369,333 (GRCm39)	L686I	probably damaging	Het
Slc22a6	T	C	19: 8,595,721 (GRCm39)	V21A	possibly damaging	Het
Slco1c1	A	T	6: 141,487,868 (GRCm39)	N79Y	probably damaging	Het
Tbl1xr1	G	T	3: 22,243,950 (GRCm39)		probably null	Het
Zfp961	T	A	8: 72,721,888 (GRCm39)	C134S	possibly damaging	Het

Other mutations in Kansl1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Kansl1l	APN	1	66,763,733 (GRCm39)	missense	possibly damaging	0.83
IGL01644:Kansl1l	APN	1	66,840,475 (GRCm39)	missense	probably benign	0.01
IGL01690:Kansl1l	APN	1	66,840,232 (GRCm39)	missense	probably damaging	0.98
IGL01811:Kansl1l	APN	1	66,762,462 (GRCm39)	missense	probably damaging	1.00
IGL01966:Kansl1l	APN	1	66,777,227 (GRCm39)	missense	probably damaging	1.00
IGL02549:Kansl1l	APN	1	66,841,127 (GRCm39)	missense	probably benign	0.44
IGL02578:Kansl1l	APN	1	66,840,848 (GRCm39)	nonsense	probably null
IGL02707:Kansl1l	APN	1	66,812,604 (GRCm39)	missense	probably damaging	1.00
IGL03088:Kansl1l	APN	1	66,774,884 (GRCm39)	missense	probably damaging	0.98
IGL03187:Kansl1l	APN	1	66,765,062 (GRCm39)	missense	probably damaging	1.00
IGL03279:Kansl1l	APN	1	66,774,825 (GRCm39)	missense	probably damaging	0.99
arkansasii	UTSW	1	66,801,262 (GRCm39)	missense	probably damaging	1.00
Kansasii	UTSW	1	66,817,265 (GRCm39)	missense	probably null	0.41
PIT4810001:Kansl1l	UTSW	1	66,801,308 (GRCm39)	missense	probably damaging	1.00
R0068:Kansl1l	UTSW	1	66,760,047 (GRCm39)	missense	probably benign	0.00
R0068:Kansl1l	UTSW	1	66,760,047 (GRCm39)	missense	probably benign	0.00
R0070:Kansl1l	UTSW	1	66,840,262 (GRCm39)	missense	probably damaging	0.99
R0312:Kansl1l	UTSW	1	66,817,265 (GRCm39)	missense	probably null	0.41
R0456:Kansl1l	UTSW	1	66,774,885 (GRCm39)	missense	probably damaging	0.99
R0720:Kansl1l	UTSW	1	66,840,515 (GRCm39)	missense	possibly damaging	0.52
R1381:Kansl1l	UTSW	1	66,760,063 (GRCm39)	missense	probably benign	0.01
R1470:Kansl1l	UTSW	1	66,841,156 (GRCm39)	missense	possibly damaging	0.82
R1470:Kansl1l	UTSW	1	66,841,156 (GRCm39)	missense	possibly damaging	0.82
R1759:Kansl1l	UTSW	1	66,841,047 (GRCm39)	missense	probably damaging	0.96
R1840:Kansl1l	UTSW	1	66,817,191 (GRCm39)	missense	probably damaging	1.00
R2299:Kansl1l	UTSW	1	66,812,636 (GRCm39)	missense	probably damaging	1.00
R2888:Kansl1l	UTSW	1	66,763,764 (GRCm39)	missense	probably benign	0.13
R2893:Kansl1l	UTSW	1	66,840,493 (GRCm39)	missense	probably damaging	1.00
R3735:Kansl1l	UTSW	1	66,840,409 (GRCm39)	missense	possibly damaging	0.90
R4249:Kansl1l	UTSW	1	66,812,637 (GRCm39)	missense	probably damaging	1.00
R4448:Kansl1l	UTSW	1	66,777,318 (GRCm39)	missense	probably damaging	0.99
R4710:Kansl1l	UTSW	1	66,840,655 (GRCm39)	missense	possibly damaging	0.66
R4768:Kansl1l	UTSW	1	66,840,292 (GRCm39)	missense	probably damaging	1.00
R5523:Kansl1l	UTSW	1	66,841,271 (GRCm39)	missense	probably benign	0.00
R5645:Kansl1l	UTSW	1	66,840,503 (GRCm39)	missense	probably benign	0.27
R5840:Kansl1l	UTSW	1	66,809,374 (GRCm39)	intron	probably benign
R5964:Kansl1l	UTSW	1	66,765,081 (GRCm39)	missense	probably damaging	1.00
R5990:Kansl1l	UTSW	1	66,774,885 (GRCm39)	missense	probably damaging	0.98
R6009:Kansl1l	UTSW	1	66,774,759 (GRCm39)	missense	probably benign	0.00
R6051:Kansl1l	UTSW	1	66,765,885 (GRCm39)	missense	probably null	1.00
R6092:Kansl1l	UTSW	1	66,812,643 (GRCm39)	missense	probably damaging	1.00
R6316:Kansl1l	UTSW	1	66,774,744 (GRCm39)	missense	probably benign
R6402:Kansl1l	UTSW	1	66,801,352 (GRCm39)	missense	probably damaging	0.99
R6906:Kansl1l	UTSW	1	66,762,437 (GRCm39)	missense	possibly damaging	0.76
R7241:Kansl1l	UTSW	1	66,840,787 (GRCm39)	missense	possibly damaging	0.91
R7434:Kansl1l	UTSW	1	66,801,262 (GRCm39)	missense	probably damaging	1.00
R7716:Kansl1l	UTSW	1	66,840,292 (GRCm39)	missense	probably damaging	1.00
R7793:Kansl1l	UTSW	1	66,817,173 (GRCm39)	missense	probably damaging	1.00
R8187:Kansl1l	UTSW	1	66,840,896 (GRCm39)	missense	possibly damaging	0.77
R8972:Kansl1l	UTSW	1	66,812,101 (GRCm39)	missense	probably damaging	1.00
R9347:Kansl1l	UTSW	1	66,840,347 (GRCm39)	missense	probably benign	0.14
R9386:Kansl1l	UTSW	1	66,765,129 (GRCm39)	missense	probably damaging	1.00
R9749:Kansl1l	UTSW	1	66,760,970 (GRCm39)	missense	probably damaging	1.00
R9750:Kansl1l	UTSW	1	66,817,150 (GRCm39)	missense	probably benign	0.36

Posted On

2012-12-06