Mutagenetix > Incidental Mutation

Incidental Mutation 'R7362:Kansl3'

571390

Institutional Source

Beutler Lab

Gene Symbol

Kansl3

Ensembl Gene

ENSMUSG00000010453

Gene Name

KAT8 regulatory NSL complex subunit 3

Synonyms

4632411B12Rik

MMRRC Submission

045375-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7362 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36374811-36408262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36383208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 759 (D759E)

Ref Sequence

ENSEMBL: ENSMUSP00000140597 (fasta)

Gene Model

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

AlphaFold

A2RSY1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010597
AA Change: D733E

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000010597
Gene: ENSMUSG00000010453
AA Change: D733E

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

possibly damaging
Transcript: ENSMUST00000185912
AA Change: D634E

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140547
Gene: ENSMUSG00000010453
AA Change: D634E

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

possibly damaging
Transcript: ENSMUST00000186470
AA Change: D759E

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140597
Gene: ENSMUSG00000010453
AA Change: D759E

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: ENSMUST00000188961

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,295,534 (GRCm39)	R193K	probably damaging	Het
Aoc1	G	T	6: 48,882,345 (GRCm39)	V74L	probably benign	Het
Bfsp1	G	C	2: 143,668,795 (GRCm39)	P601A	probably benign	Het
Bicd1	A	C	6: 149,385,591 (GRCm39)	K108T	probably benign	Het
Btbd18	C	T	2: 84,491,887 (GRCm39)	Q23*	probably null	Het
Ccser1	A	G	6: 61,787,864 (GRCm39)	I227M	unknown	Het
Cd151	G	A	7: 141,049,502 (GRCm39)	V70I	probably benign	Het
Cdh10	A	G	15: 18,899,780 (GRCm39)	T36A	probably benign	Het
Crb2	A	G	2: 37,680,211 (GRCm39)	T380A	probably benign	Het
Csmd3	A	C	15: 47,619,388 (GRCm39)	S1829A	possibly damaging	Het
Dgat2	A	T	7: 98,803,843 (GRCm39)	H359Q	probably damaging	Het
Dhdds	T	C	4: 133,698,441 (GRCm39)	T298A	probably benign	Het
Egfem1	A	G	3: 29,206,069 (GRCm39)	Q102R	probably benign	Het
Eps15	T	A	4: 109,223,439 (GRCm39)		probably null	Het
Ern1	T	A	11: 106,327,949 (GRCm39)	D61V	probably damaging	Het
Fcamr	G	A	1: 130,741,760 (GRCm39)	R511Q	possibly damaging	Het
Grhpr	T	C	4: 44,987,255 (GRCm39)	V213A	probably benign	Het
Gsx2	A	G	5: 75,236,765 (GRCm39)	D115G	possibly damaging	Het
Hoxd3	A	G	2: 74,574,563 (GRCm39)	I70V	possibly damaging	Het
Inpp5a	A	G	7: 139,158,296 (GRCm39)	I408V	probably benign	Het
Lrrc37a	T	G	11: 103,348,335 (GRCm39)	T2787P	unknown	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mkln1	T	C	6: 31,445,103 (GRCm39)	I333T	probably benign	Het
Myt1	T	A	2: 181,439,033 (GRCm39)	V227D	probably benign	Het
Or1a1	T	C	11: 74,086,412 (GRCm39)	F28L	probably benign	Het
Or52s1	T	A	7: 102,861,861 (GRCm39)	Y265N	probably damaging	Het
Or7e171-ps1	C	T	9: 19,853,527 (GRCm39)	D70N	probably damaging	Het
Pcf11	A	G	7: 92,302,453 (GRCm39)	L1219P	possibly damaging	Het
Pde6g	T	C	11: 120,338,950 (GRCm39)	E80G	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp3cb	T	A	14: 20,573,719 (GRCm39)	Q304L	probably benign	Het
Prr19	T	C	7: 25,003,343 (GRCm39)	L319P	probably damaging	Het
Prss23	C	T	7: 89,158,972 (GRCm39)	A366T	probably damaging	Het
Rock2	T	C	12: 17,008,422 (GRCm39)	L560P	probably damaging	Het
Simc1	A	T	13: 54,687,517 (GRCm39)	R95S	probably damaging	Het
Slc10a6	A	T	5: 103,776,992 (GRCm39)	V36E	probably damaging	Het
Slco1c1	A	T	6: 141,515,189 (GRCm39)	T695S	probably benign	Het
Spata31h1	T	A	10: 82,128,831 (GRCm39)	Q1393L	possibly damaging	Het
Ssh2	T	C	11: 77,340,476 (GRCm39)	F543L	probably benign	Het
Tecpr2	T	A	12: 110,907,910 (GRCm39)	V999D	possibly damaging	Het
Tnfsf10	A	T	3: 27,389,497 (GRCm39)	Y186F	probably damaging	Het
Tnk2	A	T	16: 32,494,338 (GRCm39)		probably null	Het
Tram1	T	C	1: 13,659,832 (GRCm39)	M39V	probably benign	Het
Uck2	C	T	1: 167,065,211 (GRCm39)	V36I	possibly damaging	Het
Ugcg	T	A	4: 59,217,109 (GRCm39)	M211K	probably damaging	Het
Vash2	A	T	1: 190,692,496 (GRCm39)	S226R	probably damaging	Het
Vmn1r172	T	A	7: 23,359,841 (GRCm39)	M242K	probably damaging	Het
Vmn2r82	A	T	10: 79,232,451 (GRCm39)	M817L	probably benign	Het
Vwa5b1	T	C	4: 138,321,623 (GRCm39)	N390S	probably damaging	Het
Wdr73	T	A	7: 80,550,451 (GRCm39)	D17V	probably damaging	Het
Wdr91	A	T	6: 34,866,050 (GRCm39)	S501T	possibly damaging	Het
Zfp454	A	G	11: 50,777,194 (GRCm39)		probably null	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
IGL02423:Kansl3	APN	1	36,391,050 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCTATTGGACACAAGCAG -3'
(R):5'- CCTGGTATCTTTCTGAGGGC -3'

Sequencing Primer
(F):5'- GCAGATGATTAGAAGTTACCACC -3'
(R):5'- CAGGGTAGTGCTTAAGGGC -3'

Posted On

2019-09-13