Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02167:Kansl2'

282778

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kansl2

Ensembl Gene

ENSMUSG00000022992

Gene Name

KAT8 regulatory NSL complex subunit 2

Synonyms

2310037I24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

98415539-98432145 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 98431396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023727] [ENSMUST00000116400] [ENSMUST00000230542] [ENSMUST00000231066]

AlphaFold

Q8BQR4

Predicted Effect

probably benign
Transcript: ENSMUST00000023727

SMART Domains

Protein: ENSMUSP00000023727
Gene: ENSMUSG00000022992

Domain	Start	End	E-Value	Type
Pfam:zf-C3Hc3H	27	93	4.8e-19	PFAM
Pfam:zf-C3Hc3H	300	365	4.6e-19	PFAM
low complexity region	408	420	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116400

SMART Domains

Protein: ENSMUSP00000112101
Gene: ENSMUSG00000022992

Domain	Start	End	E-Value	Type
Pfam:zf-C3Hc3H	28	92	1e-19	PFAM
Pfam:zf-C3Hc3H	302	364	1.7e-16	PFAM
low complexity region	442	454	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229818

Predicted Effect

probably benign
Transcript: ENSMUST00000230542

Predicted Effect

probably benign
Transcript: ENSMUST00000231066

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,721 (GRCm39)		probably benign	Het
Cacna1f	T	C	X: 7,482,258 (GRCm39)	Y581H	probably damaging	Het
Camsap1	C	T	2: 25,824,312 (GRCm39)	R1416H	probably damaging	Het
Ccdc117	T	C	11: 5,481,333 (GRCm39)	E266G	possibly damaging	Het
Ccdc9	A	T	7: 16,018,284 (GRCm39)	L8*	probably null	Het
Cited2	T	C	10: 17,600,018 (GRCm39)	S109P	probably benign	Het
Cnot4	T	C	6: 35,033,159 (GRCm39)	D286G	possibly damaging	Het
Col5a1	T	C	2: 27,908,568 (GRCm39)	I52T	probably benign	Het
Cry2	T	C	2: 92,264,166 (GRCm39)	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,172,826 (GRCm39)	F153S	probably damaging	Het
Ddr1	T	C	17: 36,000,963 (GRCm39)	S261G	possibly damaging	Het
Depdc5	G	A	5: 33,061,145 (GRCm39)	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,857,135 (GRCm39)		probably benign	Het
Epha8	A	T	4: 136,658,405 (GRCm39)	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,517,412 (GRCm39)	G383C	probably damaging	Het
Hydin	T	A	8: 111,145,055 (GRCm39)	I802N	possibly damaging	Het
Ifne	A	G	4: 88,798,065 (GRCm39)	Y118H	possibly damaging	Het
Lig4	T	A	8: 10,021,821 (GRCm39)	N653I	probably benign	Het
Nagk	A	G	6: 83,778,088 (GRCm39)	D246G	probably damaging	Het
Nav1	A	G	1: 135,398,699 (GRCm39)	S628P	probably damaging	Het
Ncoa3	A	G	2: 165,912,056 (GRCm39)	Y1401C	probably damaging	Het
Ndufa9	A	G	6: 126,821,748 (GRCm39)		probably benign	Het
Nynrin	G	T	14: 56,100,792 (GRCm39)	R194L	probably damaging	Het
Or10a4	A	T	7: 106,696,868 (GRCm39)	R65S	probably benign	Het
Or10ag53	G	A	2: 87,082,542 (GRCm39)	C87Y	probably benign	Het
Or13a17	T	A	7: 140,271,664 (GRCm39)	V282D	probably damaging	Het
Orc2	A	T	1: 58,522,798 (GRCm39)		probably benign	Het
Oxgr1	T	A	14: 120,259,342 (GRCm39)	R288S	probably damaging	Het
Pgap6	T	C	17: 26,338,045 (GRCm39)	S450P	probably damaging	Het
Prkcg	T	C	7: 3,371,097 (GRCm39)		probably null	Het
Prox1	T	C	1: 189,893,477 (GRCm39)	N323D	probably benign	Het
Prrt1	A	C	17: 34,850,829 (GRCm39)	E215A	possibly damaging	Het
Rab2b	T	C	14: 52,506,153 (GRCm39)	D103G	probably damaging	Het
Sardh	G	T	2: 27,081,987 (GRCm39)	N846K	probably damaging	Het
Slc38a8	T	A	8: 120,214,099 (GRCm39)	T248S	probably benign	Het
Slc6a18	T	C	13: 73,814,591 (GRCm39)		probably null	Het
Smcp	T	C	3: 92,491,506 (GRCm39)	T114A	unknown	Het
Trpv1	A	G	11: 73,145,623 (GRCm39)	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,717,745 (GRCm39)	H243L	probably benign	Het
Wdfy3	T	C	5: 102,109,023 (GRCm39)	M125V	probably damaging	Het
Wnk2	T	C	13: 49,224,601 (GRCm39)		probably null	Het
Wrn	T	C	8: 33,807,583 (GRCm39)	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,189,140 (GRCm39)	L20P	possibly damaging	Het
Zfp608	T	C	18: 55,121,296 (GRCm39)	H97R	probably damaging	Het
Zfp68	T	A	5: 138,604,629 (GRCm39)	M565L	probably benign	Het
Zfp687	T	C	3: 94,917,841 (GRCm39)	T644A	probably benign	Het
Zfp777	C	T	6: 48,021,460 (GRCm39)	G54D	probably damaging	Het

Other mutations in Kansl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Kansl2	APN	15	98,426,734 (GRCm39)	splice site	probably benign
IGL02349:Kansl2	APN	15	98,427,327 (GRCm39)	missense	probably damaging	1.00
R0004:Kansl2	UTSW	15	98,418,257 (GRCm39)	missense	probably damaging	1.00
R1128:Kansl2	UTSW	15	98,431,566 (GRCm39)	nonsense	probably null
R1129:Kansl2	UTSW	15	98,431,462 (GRCm39)	missense	probably damaging	1.00
R1311:Kansl2	UTSW	15	98,426,797 (GRCm39)	missense	possibly damaging	0.93
R2132:Kansl2	UTSW	15	98,427,278 (GRCm39)	missense	probably damaging	1.00
R2144:Kansl2	UTSW	15	98,424,512 (GRCm39)	missense	probably benign	0.00
R2232:Kansl2	UTSW	15	98,422,359 (GRCm39)	missense	probably damaging	1.00
R2510:Kansl2	UTSW	15	98,426,742 (GRCm39)	critical splice donor site	probably null
R3433:Kansl2	UTSW	15	98,426,742 (GRCm39)	critical splice donor site	probably null
R4125:Kansl2	UTSW	15	98,429,636 (GRCm39)	missense	possibly damaging	0.79
R4818:Kansl2	UTSW	15	98,424,542 (GRCm39)	missense	possibly damaging	0.48
R4906:Kansl2	UTSW	15	98,429,771 (GRCm39)	missense	possibly damaging	0.83
R4962:Kansl2	UTSW	15	98,429,724 (GRCm39)	missense	probably benign	0.01
R5973:Kansl2	UTSW	15	98,427,306 (GRCm39)	missense	probably damaging	1.00
R6014:Kansl2	UTSW	15	98,418,197 (GRCm39)	critical splice donor site	probably null
R6077:Kansl2	UTSW	15	98,429,312 (GRCm39)	missense	probably benign	0.08
R6657:Kansl2	UTSW	15	98,422,551 (GRCm39)	missense	possibly damaging	0.67
R7168:Kansl2	UTSW	15	98,427,425 (GRCm39)	splice site	probably null
R7418:Kansl2	UTSW	15	98,429,775 (GRCm39)	missense	possibly damaging	0.95
R7530:Kansl2	UTSW	15	98,426,896 (GRCm39)	missense	probably benign	0.01
R7957:Kansl2	UTSW	15	98,422,499 (GRCm39)	missense	probably benign	0.05

Posted On

2015-04-16