Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02423:Kansl3'

292762

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kansl3

Ensembl Gene

ENSMUSG00000010453

Gene Name

KAT8 regulatory NSL complex subunit 3

Synonyms

4632411B12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL02423

Quality Score

Status

Chromosome

Chromosomal Location

36374811-36408262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36391050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 373 (V373D)

Ref Sequence

ENSEMBL: ENSMUSP00000140597 (fasta)

Gene Model

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

AlphaFold

A2RSY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000010597
AA Change: V373D

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

SMART Domains

Protein: ENSMUSP00000010597
Gene: ENSMUSG00000010453
AA Change: V373D

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

noncoding transcript
Transcript: ENSMUST00000184898

Predicted Effect

probably damaging
Transcript: ENSMUST00000185912
AA Change: V274D

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

SMART Domains

Protein: ENSMUSP00000140547
Gene: ENSMUSG00000010453
AA Change: V274D

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 damaging
Transcript: ENSMUST00000186470
AA Change: V373D

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

SMART Domains

Protein: ENSMUSP00000140597
Gene: ENSMUSG00000010453
AA Change: V373D

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: ENSMUST00000188528

Predicted Effect

probably benign
Transcript: ENSMUST00000188961

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca6	A	G	11: 110,109,832 (GRCm39)		probably benign	Het
Adarb2	A	T	13: 8,619,756 (GRCm39)	R81W	probably damaging	Het
Adgrf4	T	C	17: 42,983,467 (GRCm39)	I72V	probably benign	Het
Banp	A	G	8: 122,733,830 (GRCm39)	I360V	probably benign	Het
Bmp8a	C	A	4: 123,210,220 (GRCm39)	G289C	possibly damaging	Het
Car3	A	T	3: 14,931,911 (GRCm39)	H94L	probably damaging	Het
Ccdc137	G	A	11: 120,350,927 (GRCm39)	R108H	possibly damaging	Het
Cdk14	T	C	5: 4,938,905 (GRCm39)	N411S	probably benign	Het
Col4a2	A	G	8: 11,483,800 (GRCm39)	M907V	probably benign	Het
Cyp4f17	T	A	17: 32,725,923 (GRCm39)	W19R	possibly damaging	Het
Dmxl2	A	G	9: 54,301,032 (GRCm39)	S2360P	possibly damaging	Het
Eif2d	T	G	1: 131,081,097 (GRCm39)		probably benign	Het
Epx	A	G	11: 87,762,144 (GRCm39)	I369T	possibly damaging	Het
Fcgbp	A	G	7: 27,789,378 (GRCm39)	E648G	probably benign	Het
Fer1l4	G	A	2: 155,894,827 (GRCm39)	P14L	probably benign	Het
Folr1	A	G	7: 101,507,732 (GRCm39)	F236S	probably benign	Het
Foxj2	T	G	6: 122,819,732 (GRCm39)	M540R	possibly damaging	Het
Gtf2h1	A	G	7: 46,464,824 (GRCm39)	T420A	probably benign	Het
H2-T3	T	A	17: 36,498,248 (GRCm39)	T222S	probably damaging	Het
Ice1	A	T	13: 70,740,718 (GRCm39)	M2163K	probably damaging	Het
Inppl1	A	G	7: 101,481,450 (GRCm39)	V244A	probably benign	Het
Kdm3a	A	G	6: 71,590,987 (GRCm39)		probably benign	Het
Krtap1-3	A	T	11: 99,481,680 (GRCm39)	C156S	unknown	Het
Mab21l3	T	C	3: 101,726,045 (GRCm39)	D317G	probably damaging	Het
Nherf1	A	G	11: 115,054,539 (GRCm39)		probably null	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nxn	A	T	11: 76,164,858 (GRCm39)	S218T	probably benign	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Or6c35	G	A	10: 129,169,397 (GRCm39)	V216I	probably benign	Het
Pcdhb13	T	C	18: 37,577,392 (GRCm39)	V590A	possibly damaging	Het
Pim3	T	C	15: 88,747,734 (GRCm39)	V200A	probably benign	Het
Plekha3	T	C	2: 76,510,524 (GRCm39)	F20L	probably damaging	Het
Pmp22	G	T	11: 63,049,118 (GRCm39)	R120S	possibly damaging	Het
Ppp1r9a	A	C	6: 4,906,537 (GRCm39)	D364A	probably benign	Het
Psd	A	G	19: 46,302,943 (GRCm39)	F155L	possibly damaging	Het
Rbm22	T	C	18: 60,704,891 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Ryr2	A	T	13: 11,760,084 (GRCm39)	F1556I	probably damaging	Het
Scap	G	A	9: 110,207,685 (GRCm39)	A465T	probably benign	Het
Sdf2	A	G	11: 78,141,844 (GRCm39)	S60G	probably damaging	Het
Sema3a	T	C	5: 13,615,776 (GRCm39)	I400T	probably damaging	Het
Ski	T	C	4: 155,244,191 (GRCm39)	D478G	probably damaging	Het
Slc12a7	A	T	13: 73,911,882 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,211,322 (GRCm39)	T1074A	probably benign	Het
Srebf2	A	G	15: 82,059,298 (GRCm39)	T239A	probably damaging	Het
Stk4	C	T	2: 163,928,419 (GRCm39)	H84Y	probably benign	Het
Syne1	G	T	10: 5,318,295 (GRCm39)	Q444K	probably benign	Het
Tecpr1	T	A	5: 144,140,305 (GRCm39)	I817F	possibly damaging	Het
Tep1	G	T	14: 51,082,077 (GRCm39)	Q1159K	possibly damaging	Het
Tmem39b	G	A	4: 129,572,442 (GRCm39)	H387Y	probably damaging	Het
Tpp1	T	C	7: 105,398,907 (GRCm39)	H174R	probably damaging	Het
Ttn	C	T	2: 76,535,617 (GRCm39)	V35134I	probably benign	Het
Usp34	A	G	11: 23,304,900 (GRCm39)	I378V	probably benign	Het
Vinac1	T	C	2: 128,889,968 (GRCm39)	E42G	probably benign	Het
Vmn2r1	T	A	3: 63,997,665 (GRCm39)	H440Q	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zcchc7	T	A	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zic4	C	A	9: 91,266,228 (GRCm39)	H284N	probably damaging	Het
Zkscan6	A	G	11: 65,719,120 (GRCm39)	H380R	probably benign	Het

Other mutations in Kansl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02220:Kansl3	APN	1	36,407,070 (GRCm39)	start gained	probably benign
IGL02277:Kansl3	APN	1	36,388,028 (GRCm39)	missense	possibly damaging	0.85
R0147:Kansl3	UTSW	1	36,392,897 (GRCm39)	missense	probably damaging	1.00
R0148:Kansl3	UTSW	1	36,392,897 (GRCm39)	missense	probably damaging	1.00
R0255:Kansl3	UTSW	1	36,384,050 (GRCm39)	missense	probably benign	0.01
R0279:Kansl3	UTSW	1	36,391,050 (GRCm39)	missense	probably damaging	0.99
R0349:Kansl3	UTSW	1	36,390,864 (GRCm39)	missense	probably damaging	1.00
R1452:Kansl3	UTSW	1	36,393,874 (GRCm39)	splice site	probably benign
R1599:Kansl3	UTSW	1	36,406,951 (GRCm39)	missense	probably damaging	1.00
R1842:Kansl3	UTSW	1	36,390,825 (GRCm39)	missense	probably damaging	1.00
R2310:Kansl3	UTSW	1	36,382,445 (GRCm39)	missense	probably damaging	1.00
R4093:Kansl3	UTSW	1	36,384,035 (GRCm39)	missense	probably damaging	1.00
R4961:Kansl3	UTSW	1	36,387,764 (GRCm39)	critical splice acceptor site	probably null
R5339:Kansl3	UTSW	1	36,406,802 (GRCm39)	intron	probably benign
R5400:Kansl3	UTSW	1	36,397,230 (GRCm39)	missense	possibly damaging	0.93
R5564:Kansl3	UTSW	1	36,385,045 (GRCm39)	missense	possibly damaging	0.55
R5661:Kansl3	UTSW	1	36,388,038 (GRCm39)	missense	possibly damaging	0.55
R5965:Kansl3	UTSW	1	36,384,601 (GRCm39)	splice site	probably null
R6185:Kansl3	UTSW	1	36,385,099 (GRCm39)	missense	probably damaging	0.96
R6261:Kansl3	UTSW	1	36,404,686 (GRCm39)	missense	probably benign	0.01
R6706:Kansl3	UTSW	1	36,383,995 (GRCm39)	critical splice donor site	probably null
R7055:Kansl3	UTSW	1	36,404,701 (GRCm39)	missense	possibly damaging	0.86
R7134:Kansl3	UTSW	1	36,390,848 (GRCm39)	missense	possibly damaging	0.52
R7362:Kansl3	UTSW	1	36,383,208 (GRCm39)	missense	possibly damaging	0.82
R7461:Kansl3	UTSW	1	36,382,876 (GRCm39)	missense	probably damaging	1.00
R7571:Kansl3	UTSW	1	36,404,668 (GRCm39)	missense	possibly damaging	0.55
R7613:Kansl3	UTSW	1	36,382,876 (GRCm39)	missense	probably damaging	1.00
R7775:Kansl3	UTSW	1	36,387,758 (GRCm39)	missense	probably damaging	0.99
R7778:Kansl3	UTSW	1	36,387,758 (GRCm39)	missense	probably damaging	0.99
R8345:Kansl3	UTSW	1	36,387,897 (GRCm39)	critical splice donor site	probably null
R9017:Kansl3	UTSW	1	36,393,861 (GRCm39)	missense	probably benign	0.02
R9285:Kansl3	UTSW	1	36,383,148 (GRCm39)	splice site	probably benign
R9286:Kansl3	UTSW	1	36,387,720 (GRCm39)	missense	probably benign	0.01
R9287:Kansl3	UTSW	1	36,388,497 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16