Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02711:Kansl1'

304576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kansl1

Ensembl Gene

ENSMUSG00000018412

Gene Name

KAT8 regulatory NSL complex subunit 1

Synonyms

1700081L11Rik

Accession Numbers

Genbank: NM_001081045.1; Ensembl: ENSMUST00000018556, ENSMUST00000035872, ENSMUST00000106971, ENSMUST00000106972, ENSMUST00000106974, ENSMUST00000106977, ENSMUST00000134266, ENSMUST00000166536

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02711

Quality Score

Status

Chromosome

Chromosomal Location

104333229-104468861 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104335575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 982 (S982T)

Ref Sequence

ENSEMBL: ENSMUSP00000102585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018556] [ENSMUST00000106971] [ENSMUST00000106972] [ENSMUST00000106977] [ENSMUST00000106992]

AlphaFold

Q80TG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000018556
AA Change: S919T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: S919T

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 damaging
Transcript: ENSMUST00000106971
AA Change: S982T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: S982T

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 damaging
Transcript: ENSMUST00000106972
AA Change: S982T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: S982T

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 damaging
Transcript: ENSMUST00000106977
AA Change: S919T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: S919T

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

probably benign
Transcript: ENSMUST00000106992

SMART Domains

Protein: ENSMUSP00000102605
Gene: ENSMUSG00000018411

Domain	Start	End	E-Value	Type
low complexity region	69	81	N/A	INTRINSIC
low complexity region	105	154	N/A	INTRINSIC
Pfam:Tubulin-binding	174	205	6.1e-19	PFAM
Pfam:Tubulin-binding	206	236	1.5e-21	PFAM
Pfam:Tubulin-binding	237	267	6.9e-20	PFAM
Pfam:Tubulin-binding	268	299	4.7e-19	PFAM

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,723,245		probably null	Het
Adamts10	T	A	17: 33,538,272	M400K	probably damaging	Het
Adamts17	G	A	7: 67,052,040		probably benign	Het
Adh5	A	G	3: 138,454,673	K323E	probably damaging	Het
Angptl2	T	C	2: 33,228,243	W10R	probably benign	Het
Arhgap15	T	C	2: 44,116,662	F264L	possibly damaging	Het
Atp6v1g3	T	A	1: 138,283,681	L33Q	probably damaging	Het
Baz2b	A	T	2: 59,917,505		probably benign	Het
BC027072	T	C	17: 71,749,382	D1100G	probably benign	Het
Capn11	A	G	17: 45,632,415	F611S	probably damaging	Het
Cep152	T	A	2: 125,563,942	T1557S	possibly damaging	Het
Cep76	A	T	18: 67,638,336	S75R	probably benign	Het
Cps1	A	G	1: 67,212,517		probably benign	Het
Dbf4	G	T	5: 8,408,235	A199E	probably benign	Het
Gldc	C	T	19: 30,145,146		probably null	Het
Hspa14	G	A	2: 3,502,520	A117V	probably benign	Het
Igkv4-80	G	A	6: 69,016,817	P30L	probably damaging	Het
Itga2b	A	T	11: 102,465,725	W292R	possibly damaging	Het
Klhdc7b	A	T	15: 89,388,043	K1043*	probably null	Het
Kmt2a	A	T	9: 44,824,523		probably benign	Het
Krt86	T	C	15: 101,473,662	Y38H	probably damaging	Het
Lingo4	T	C	3: 94,403,393	I546T	probably benign	Het
Lrrk1	A	G	7: 66,330,767	S222P	probably damaging	Het
Lrrk2	T	C	15: 91,685,822	V178A	possibly damaging	Het
Maml2	T	C	9: 13,620,063	V191A	probably benign	Het
Msh3	T	C	13: 92,351,311	T133A	probably damaging	Het
Nck1	T	C	9: 100,508,620	D12G	probably damaging	Het
Nox4	T	C	7: 87,396,868	Y572H	probably damaging	Het
Nqo1	A	T	8: 107,392,931	L30Q	probably damaging	Het
Olfr994	A	T	2: 85,430,739	V30E	probably damaging	Het
Oxr1	A	G	15: 41,653,671		probably benign	Het
Pcdhb10	A	C	18: 37,412,726	D285A	possibly damaging	Het
Pclo	A	G	5: 14,522,308	N569S	unknown	Het
Ppfibp1	T	A	6: 147,026,238	Y794*	probably null	Het
Ripor3	T	G	2: 168,006,280		probably benign	Het
Rpe65	C	A	3: 159,622,877	H441N	possibly damaging	Het
St14	A	G	9: 31,089,900	V845A	probably benign	Het
Tmem116	T	A	5: 121,487,741		probably benign	Het
Tnfrsf11b	A	T	15: 54,256,136	D147E	probably benign	Het
Ttn	C	A	2: 76,730,122	G27566*	probably null	Het
Zscan18	G	T	7: 12,775,117		probably benign	Het

Other mutations in Kansl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Kansl1	APN	11	104424466	missense	probably damaging	0.96
IGL00658:Kansl1	APN	11	104357526	missense	probably benign	0.10
IGL00688:Kansl1	APN	11	104425066	missense	probably damaging	1.00
IGL01121:Kansl1	APN	11	104335596	missense	probably benign	0.01
IGL01624:Kansl1	APN	11	104424552	missense	probably benign	0.13
IGL02187:Kansl1	APN	11	104378831	splice site	probably null
IGL02965:Kansl1	APN	11	104335165	missense	probably damaging	0.99
kansas	UTSW	11	104424132	missense	possibly damaging	0.94
wichita	UTSW	11	104356767	missense	possibly damaging	0.90
NA:Kansl1	UTSW	11	104342367	missense	probably benign	0.09
R0399:Kansl1	UTSW	11	104424132	missense	possibly damaging	0.94
R0611:Kansl1	UTSW	11	104338186	missense	probably benign	0.31
R0665:Kansl1	UTSW	11	104343538	missense	probably benign
R0667:Kansl1	UTSW	11	104343538	missense	probably benign
R0747:Kansl1	UTSW	11	104342976	missense	probably benign	0.00
R0865:Kansl1	UTSW	11	104424368	missense	probably benign	0.08
R1479:Kansl1	UTSW	11	104342416	missense	probably damaging	1.00
R1679:Kansl1	UTSW	11	104423996	missense	probably damaging	1.00
R1818:Kansl1	UTSW	11	104342457	missense	possibly damaging	0.80
R1922:Kansl1	UTSW	11	104343640	missense	probably damaging	1.00
R1932:Kansl1	UTSW	11	104335097	missense	probably damaging	0.99
R2105:Kansl1	UTSW	11	104335559	missense	probably damaging	0.98
R2907:Kansl1	UTSW	11	104424460	missense	possibly damaging	0.82
R3935:Kansl1	UTSW	11	104343543	missense	possibly damaging	0.83
R3936:Kansl1	UTSW	11	104343543	missense	possibly damaging	0.83
R4282:Kansl1	UTSW	11	104378689	missense	probably benign	0.19
R4455:Kansl1	UTSW	11	104424358	missense	possibly damaging	0.47
R4696:Kansl1	UTSW	11	104356767	missense	possibly damaging	0.90
R4846:Kansl1	UTSW	11	104342972	missense	possibly damaging	0.48
R4890:Kansl1	UTSW	11	104343042	missense	probably benign
R4973:Kansl1	UTSW	11	104424321	missense	probably damaging	1.00
R4975:Kansl1	UTSW	11	104335564	missense	probably damaging	1.00
R5085:Kansl1	UTSW	11	104424342	missense	probably damaging	1.00
R5227:Kansl1	UTSW	11	104356814	missense	probably benign	0.19
R5310:Kansl1	UTSW	11	104424858	missense	possibly damaging	0.95
R5652:Kansl1	UTSW	11	104338166	missense	probably damaging	1.00
R5677:Kansl1	UTSW	11	104335148	missense	probably benign	0.00
R5980:Kansl1	UTSW	11	104343637	missense	possibly damaging	0.96
R6013:Kansl1	UTSW	11	104350639	missense	probably benign	0.00
R6253:Kansl1	UTSW	11	104357526	missense	probably benign	0.10
R7751:Kansl1	UTSW	11	104424064	missense	probably benign	0.30
R7880:Kansl1	UTSW	11	104424153	missense	probably damaging	1.00
R7888:Kansl1	UTSW	11	104342422	missense	probably benign	0.00
R7935:Kansl1	UTSW	11	104424286	missense	probably damaging	0.99
R8251:Kansl1	UTSW	11	104424360	missense	probably benign
R9033:Kansl1	UTSW	11	104357530	missense	probably benign	0.00
R9192:Kansl1	UTSW	11	104336316	missense	probably damaging	1.00
R9494:Kansl1	UTSW	11	104356740	missense	probably benign	0.00

Posted On

2015-04-16