Mutagenetix > Incidental Mutations

Incidental Mutation 'R1129:Kansl2'

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96515

Institutional Source

Beutler Lab

Gene Symbol

Kansl2

Ensembl Gene

ENSMUSG00000022992

Gene Name

KAT8 regulatory NSL complex subunit 2

Synonyms

2310037I24Rik

MMRRC Submission

039202-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R1129 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98517658-98534264 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98533581 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 63 (Y63C)

Ref Sequence

ENSEMBL: ENSMUSP00000155461 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023727
AA Change: Y63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023727
Gene: ENSMUSG00000022992
AA Change: Y63C

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 damaging
Transcript: ENSMUST00000116400
AA Change: Y63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112101
Gene: ENSMUSG00000022992
AA Change: Y63C

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 damaging
Transcript: ENSMUST00000230542
AA Change: Y63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231066
AA Change: Y63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	G	C	2: 180,172,919		probably benign	Het
Bub1b	A	T	2: 118,615,006	D269V	probably damaging	Het
Ccdc73	A	G	2: 104,992,190	N828S	possibly damaging	Het
Cdk12	T	C	11: 98,245,375	S1152P	unknown	Het
Cnnm3	T	C	1: 36,513,016	L369P	probably damaging	Het
Cxadr	A	G	16: 78,336,433	K360R	probably benign	Het
Dlg2	G	A	7: 92,431,174		probably null	Het
Dst	T	C	1: 34,199,554	V3779A	probably benign	Het
Fbxo16	G	A	14: 65,295,532	R161K	probably benign	Het
Gm9726	T	A	12: 93,928,526		noncoding transcript	Het
Hectd4	A	G	5: 121,310,599	T337A	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Ints1	A	G	5: 139,758,471	L1510S	probably benign	Het
Lats2	T	C	14: 57,700,333	E233G	possibly damaging	Het
Naca	T	C	10: 128,040,202		probably benign	Het
Pprc1	G	T	19: 46,063,806	A591S	probably benign	Het
Sbsn	C	T	7: 30,753,440	P627S	probably benign	Het
Sema6b	T	C	17: 56,124,347	E772G	probably benign	Het
Tmem33	A	G	5: 67,264,460		probably null	Het
Tmtc4	A	G	14: 122,943,153		probably null	Het
Ubqlnl	A	T	7: 104,149,650	H213Q	probably damaging	Het
Ugt1a10	T	C	1: 88,055,609	M43T	probably benign	Het
Vmn2r68	T	C	7: 85,237,504		probably null	Het
Zcchc14	A	G	8: 121,608,415		probably benign	Het

Other mutations in Kansl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Kansl2	APN	15	98528853	splice site	probably benign
IGL02167:Kansl2	APN	15	98533515	splice site	probably benign
IGL02349:Kansl2	APN	15	98529446	missense	probably damaging	1.00
R0004:Kansl2	UTSW	15	98520376	missense	probably damaging	1.00
R1128:Kansl2	UTSW	15	98533685	nonsense	probably null
R1311:Kansl2	UTSW	15	98528916	missense	possibly damaging	0.93
R2132:Kansl2	UTSW	15	98529397	missense	probably damaging	1.00
R2144:Kansl2	UTSW	15	98526631	missense	probably benign	0.00
R2232:Kansl2	UTSW	15	98524478	missense	probably damaging	1.00
R2510:Kansl2	UTSW	15	98528861	critical splice donor site	probably null
R3433:Kansl2	UTSW	15	98528861	critical splice donor site	probably null
R4125:Kansl2	UTSW	15	98531755	missense	possibly damaging	0.79
R4818:Kansl2	UTSW	15	98526661	missense	possibly damaging	0.48
R4906:Kansl2	UTSW	15	98531890	missense	possibly damaging	0.83
R4962:Kansl2	UTSW	15	98531843	missense	probably benign	0.01
R5973:Kansl2	UTSW	15	98529425	missense	probably damaging	1.00
R6014:Kansl2	UTSW	15	98520316	critical splice donor site	probably null
R6077:Kansl2	UTSW	15	98531431	missense	probably benign	0.08
R6657:Kansl2	UTSW	15	98524670	missense	possibly damaging	0.67
R7168:Kansl2	UTSW	15	98529544	splice site	probably null
R7418:Kansl2	UTSW	15	98531894	missense	possibly damaging	0.95
R7530:Kansl2	UTSW	15	98529015	missense	probably benign	0.01
R7957:Kansl2	UTSW	15	98524618	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACTCCAGCAAATTGGCCTCTGAC -3'
(R):5'- CCGCAGGTTTTGGCATGAACAG -3'

Sequencing Primer
(F):5'- gcctctgacctccccac -3'
(R):5'- TTGGCATGAACAGGATTCGG -3'

Posted On

2014-01-05