Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02220:Kansl3'

285132

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kansl3

Ensembl Gene

ENSMUSG00000010453

Gene Name

KAT8 regulatory NSL complex subunit 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

36335730-36369181 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 36367989 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010597] [ENSMUST00000179162] [ENSMUST00000185621] [ENSMUST00000185912] [ENSMUST00000186470] [ENSMUST00000187628] [ENSMUST00000188528] [ENSMUST00000188957] [ENSMUST00000188961]

Predicted Effect

probably benign
Transcript: ENSMUST00000010597

SMART Domains

Protein: ENSMUSP00000010597
Gene: ENSMUSG00000010453

Domain	Start	End	E-Value	Type
low complexity region	113	125	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
low complexity region	271	285	N/A	INTRINSIC
Pfam:Abhydrolase_5	288	436	2e-9	PFAM
low complexity region	523	555	N/A	INTRINSIC
low complexity region	669	697	N/A	INTRINSIC
low complexity region	718	732	N/A	INTRINSIC
low complexity region	735	751	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179162

SMART Domains

Protein: ENSMUSP00000142130
Gene: ENSMUSG00000037432

Domain	Start	End	E-Value	Type
C2	1	98	2.74e-4	SMART
C2	168	264	4.29e-6	SMART
FerI	250	323	1.59e-19	SMART
C2	325	422	1.06e-5	SMART
FerA	602	669	6.26e-18	SMART
FerB	691	764	1.38e-37	SMART
internal_repeat_1	781	836	1.77e-5	PROSPERO
internal_repeat_1	852	904	1.77e-5	PROSPERO
DysFC	913	951	1.61e-3	SMART
DysFC	981	1013	4.81e-2	SMART
C2	1078	1222	1.56e0	SMART
Pfam:C2	1248	1329	1e-1	PFAM
low complexity region	1376	1387	N/A	INTRINSIC
low complexity region	1459	1470	N/A	INTRINSIC
C2	1487	1586	2.21e-8	SMART
C2	1659	1851	5.32e-2	SMART
transmembrane domain	1964	1986	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185614

Predicted Effect

probably benign
Transcript: ENSMUST00000185621

Predicted Effect

probably benign
Transcript: ENSMUST00000185912

SMART Domains

Protein: ENSMUSP00000140547
Gene: ENSMUSG00000010453

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	139	150	N/A	INTRINSIC
low complexity region	172	186	N/A	INTRINSIC
Pfam:Abhydrolase_5	189	337	9.3e-8	PFAM
low complexity region	424	456	N/A	INTRINSIC
low complexity region	570	598	N/A	INTRINSIC
low complexity region	619	633	N/A	INTRINSIC
low complexity region	636	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186470

SMART Domains

Protein: ENSMUSP00000140597
Gene: ENSMUSG00000010453

Domain	Start	End	E-Value	Type
low complexity region	113	125	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
low complexity region	271	285	N/A	INTRINSIC
Pfam:Abhydrolase_5	288	436	2.2e-9	PFAM
low complexity region	523	555	N/A	INTRINSIC
low complexity region	578	586	N/A	INTRINSIC
low complexity region	695	723	N/A	INTRINSIC
low complexity region	744	758	N/A	INTRINSIC
low complexity region	761	777	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187628

Predicted Effect

probably benign
Transcript: ENSMUST00000188528

Predicted Effect

probably benign
Transcript: ENSMUST00000188957

Predicted Effect

probably benign
Transcript: ENSMUST00000188961

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,711,172	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,977,499	M1V	probably null	Het
Anks1	T	C	17: 28,054,707	I977T	probably damaging	Het
Bcar1	T	C	8: 111,711,207	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,974,891	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,514,879	G473D	probably damaging	Het
Cdh23	G	T	10: 60,305,124	H3148Q	probably damaging	Het
Col6a4	A	G	9: 106,062,942	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,259,148		probably benign	Het
D130043K22Rik	G	A	13: 24,883,755	G825S	possibly damaging	Het
Dera	T	A	6: 137,780,817		probably null	Het
Dnah17	G	T	11: 118,072,967	Y2506*	probably null	Het
Enam	T	A	5: 88,504,559	L1309*	probably null	Het
Fbxo15	G	A	18: 84,964,192		probably null	Het
Fgfbp1	T	C	5: 43,979,486	K155E	probably damaging	Het
Foxj2	C	T	6: 122,838,581		probably benign	Het
Fuca1	A	G	4: 135,939,219		probably benign	Het
Gad1-ps	T	A	10: 99,445,322		noncoding transcript	Het
H2-Eb2	C	T	17: 34,325,687		probably benign	Het
Insr	A	T	8: 3,159,578	F1168L	probably damaging	Het
Isx	T	A	8: 74,892,705	V175E	possibly damaging	Het
Lin9	T	C	1: 180,667,367	I218T	probably damaging	Het
Llgl2	C	A	11: 115,845,379	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,829,309	E488G	possibly damaging	Het
Maml3	A	G	3: 51,690,218	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,715,655	I14T	probably damaging	Het
Myo3b	A	G	2: 70,289,579		probably benign	Het
Nfkbil1	T	C	17: 35,220,746	R264G	possibly damaging	Het
Olfr140	A	G	2: 90,051,694	L210P	probably damaging	Het
Pde5a	G	T	3: 122,748,382	A174S	probably benign	Het
Plch1	A	T	3: 63,698,961	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,481,775	R1171L	probably damaging	Het
Prom1	T	C	5: 44,014,789	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,743		probably benign	Het
Samsn1	A	G	16: 75,883,875		probably null	Het
Sbno2	T	A	10: 80,072,368	T66S	probably benign	Het
Serpina1c	T	A	12: 103,896,079	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,188,270		probably null	Het
Slc18a2	A	G	19: 59,276,556	E324G	probably benign	Het
Slc40a1	A	T	1: 45,911,335	M319K	probably damaging	Het
Slc44a5	T	C	3: 154,250,971	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,842,500	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,190,716	F545S	probably benign	Het
Svop	T	C	5: 114,065,528	D65G	probably benign	Het
Tex30	A	T	1: 44,087,022	S182R	probably benign	Het
Tmem121b	T	C	6: 120,492,337	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 60,973,492		probably benign	Het
Tnrc6a	T	C	7: 123,170,456	S490P	probably benign	Het
Ubr4	A	G	4: 139,388,435	T82A	probably benign	Het
Vps16	A	G	2: 130,441,653	D589G	possibly damaging	Het
Zscan29	A	C	2: 121,166,689	S184A	probably damaging	Het

Other mutations in Kansl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02277:Kansl3	APN	1	36348947	missense	possibly damaging	0.85
IGL02423:Kansl3	APN	1	36351969	missense	probably damaging	1.00
R0147:Kansl3	UTSW	1	36353816	missense	probably damaging	1.00
R0148:Kansl3	UTSW	1	36353816	missense	probably damaging	1.00
R0255:Kansl3	UTSW	1	36344969	missense	probably benign	0.01
R0279:Kansl3	UTSW	1	36351969	missense	probably damaging	0.99
R0349:Kansl3	UTSW	1	36351783	missense	probably damaging	1.00
R1452:Kansl3	UTSW	1	36354793	splice site	probably benign
R1599:Kansl3	UTSW	1	36367870	missense	probably damaging	1.00
R1842:Kansl3	UTSW	1	36351744	missense	probably damaging	1.00
R2310:Kansl3	UTSW	1	36343364	missense	probably damaging	1.00
R4093:Kansl3	UTSW	1	36344954	missense	probably damaging	1.00
R4961:Kansl3	UTSW	1	36348683	critical splice acceptor site	probably null
R5339:Kansl3	UTSW	1	36367721	intron	probably benign
R5400:Kansl3	UTSW	1	36358149	missense	possibly damaging	0.93
R5564:Kansl3	UTSW	1	36345964	missense	possibly damaging	0.55
R5661:Kansl3	UTSW	1	36348957	missense	possibly damaging	0.55
R5965:Kansl3	UTSW	1	36345520	splice site	probably null
R6185:Kansl3	UTSW	1	36346018	missense	probably damaging	0.96
R6261:Kansl3	UTSW	1	36365605	missense	probably benign	0.01
R6706:Kansl3	UTSW	1	36344914	critical splice donor site	probably null
R7055:Kansl3	UTSW	1	36365620	missense	possibly damaging	0.86
R7134:Kansl3	UTSW	1	36351767	missense	possibly damaging	0.52
R7362:Kansl3	UTSW	1	36344127	missense	possibly damaging	0.82
R7461:Kansl3	UTSW	1	36343795	missense	probably damaging	1.00
R7571:Kansl3	UTSW	1	36365587	missense	possibly damaging	0.55
R7613:Kansl3	UTSW	1	36343795	missense	probably damaging	1.00
R7775:Kansl3	UTSW	1	36348677	missense	probably damaging	0.99
R7778:Kansl3	UTSW	1	36348677	missense	probably damaging	0.99
R8345:Kansl3	UTSW	1	36348816	critical splice donor site	probably null

Posted On

2015-04-16