Mutagenetix > Incidental Mutation

Incidental Mutation 'R6077:Kansl2'

482814

Institutional Source

Beutler Lab

Gene Symbol

Kansl2

Ensembl Gene

ENSMUSG00000022992

Gene Name

KAT8 regulatory NSL complex subunit 2

Synonyms

2310037I24Rik

MMRRC Submission

044238-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R6077 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98415539-98432145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98429312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 146 (D146G)

Ref Sequence

ENSEMBL: ENSMUSP00000023727 (fasta)

Gene Model

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

AlphaFold

Q8BQR4

Predicted Effect

probably benign
Transcript: ENSMUST00000023727
AA Change: D146G

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023727
Gene: ENSMUSG00000022992
AA Change: D146G

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

noncoding transcript
Transcript: ENSMUST00000084005

Predicted Effect

probably benign
Transcript: ENSMUST00000116400
AA Change: D146G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112101
Gene: ENSMUSG00000022992
AA Change: D146G

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
AA Change: D146G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000231066

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	T	11: 100,410,583 (GRCm39)	V132I	probably benign	Het
Adgrb3	A	T	1: 25,133,081 (GRCm39)	L1335*	probably null	Het
Adgre5	A	G	8: 84,454,595 (GRCm39)	S301P	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aldh1b1	A	G	4: 45,802,525 (GRCm39)	Y21C	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankrd7	T	A	6: 18,868,071 (GRCm39)	S112R	probably benign	Het
Arhgap23	T	A	11: 97,382,058 (GRCm39)		probably null	Het
Atp4a	G	A	7: 30,415,344 (GRCm39)	M321I	probably benign	Het
C2cd4d	A	T	3: 94,271,615 (GRCm39)	R294W	probably damaging	Het
Carns1	T	C	19: 4,220,875 (GRCm39)	I352V	probably benign	Het
Cdh17	T	A	4: 11,803,969 (GRCm39)	S547R	probably benign	Het
Cdyl2	G	T	8: 117,316,129 (GRCm39)	N286K	probably damaging	Het
Fam186a	C	A	15: 99,840,584 (GRCm39)	V1887L	possibly damaging	Het
Fat4	C	T	3: 39,056,951 (GRCm39)	R4216C	probably damaging	Het
Fcamr	T	C	1: 130,740,663 (GRCm39)	W361R	probably damaging	Het
Helz2	G	A	2: 180,874,831 (GRCm39)	P1888S	probably benign	Het
Itih1	A	T	14: 30,651,833 (GRCm39)	F840L	possibly damaging	Het
Kcnk18	T	C	19: 59,223,746 (GRCm39)	V297A	probably damaging	Het
Kif1a	T	C	1: 92,982,618 (GRCm39)	T720A	possibly damaging	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Large2	C	T	2: 92,196,915 (GRCm39)	R423K	probably benign	Het
Lgals3bp	A	G	11: 118,290,568 (GRCm39)	V13A	probably damaging	Het
Lrrd1	A	G	5: 3,900,837 (GRCm39)	I381V	probably benign	Het
Mastl	A	T	2: 23,045,806 (GRCm39)	I23N	probably damaging	Het
Mettl23	T	C	11: 116,739,728 (GRCm39)	V1A	possibly damaging	Het
Mindy2	A	G	9: 70,538,363 (GRCm39)	V324A	probably damaging	Het
Mtmr4	T	A	11: 87,501,845 (GRCm39)	L633Q	probably damaging	Het
Myh1	G	A	11: 67,102,273 (GRCm39)	E855K	probably damaging	Het
Nin	C	T	12: 70,066,006 (GRCm39)	A2026T	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Or2w1	A	T	13: 21,317,463 (GRCm39)	I173F	probably benign	Het
Otulin	T	C	15: 27,611,696 (GRCm39)	T166A	probably benign	Het
P2ry14	T	A	3: 59,022,798 (GRCm39)	R230W	probably damaging	Het
Pcsk4	T	C	10: 80,162,073 (GRCm39)	E83G	probably damaging	Het
Raet1e	C	A	10: 22,057,887 (GRCm39)	T218N	possibly damaging	Het
Rsf1	GCGGCGGC	GCGGCGGCGTCGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Safb	G	A	17: 56,909,956 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,527,940 (GRCm39)	N850I	probably damaging	Het
Slc16a4	A	G	3: 107,208,381 (GRCm39)	D297G	possibly damaging	Het
Tcf7l2	A	T	19: 55,905,868 (GRCm39)	K278*	probably null	Het
Tesmin	T	C	19: 3,439,260 (GRCm39)	V104A	possibly damaging	Het
Tiam1	A	G	16: 89,594,918 (GRCm39)		probably null	Het
Tmc4	T	C	7: 3,670,526 (GRCm39)	T522A	probably damaging	Het
Tmprss3	T	A	17: 31,408,141 (GRCm39)	I274F	possibly damaging	Het
Topbp1	A	G	9: 103,210,189 (GRCm39)	K916E	probably damaging	Het
Trdv1	A	G	14: 54,119,513 (GRCm39)	D58G	probably benign	Het
Ube2g2	G	T	10: 77,458,139 (GRCm39)		probably benign	Het
Unc5d	G	T	8: 29,165,335 (GRCm39)	Q747K	possibly damaging	Het
Xpo6	A	G	7: 125,709,124 (GRCm39)	V819A	possibly damaging	Het
Zan	T	A	5: 137,412,559 (GRCm39)		probably benign	Het
Zfp317	T	A	9: 19,558,184 (GRCm39)	W133R	probably benign	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
IGL02167:Kansl2	APN	15	98,431,396 (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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTTGGAGCAAAATGGTG -3'
(R):5'- ATTTCTCCCAACCCGGTGAC -3'

Sequencing Primer
(F):5'- GGTGTTGAACCGTGACACTTAAACC -3'
(R):5'- AACCCGGTGACCTTTCCTTGTG -3'

Posted On

2017-07-14