Mutagenetix > Incidental Mutation

Incidental Mutation 'R9286:Kansl3'

703890

Institutional Source

Beutler Lab

Gene Symbol

Kansl3

Ensembl Gene

ENSMUSG00000010453

Gene Name

KAT8 regulatory NSL complex subunit 3

Synonyms

4632411B12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R9286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36374811-36408262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36387720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 543 (T543A)

Ref Sequence

ENSEMBL: ENSMUSP00000140597 (fasta)

Gene Model

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

AlphaFold

A2RSY1

Predicted Effect

probably benign
Transcript: ENSMUST00000010597
AA Change: T543A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000010597
Gene: ENSMUSG00000010453
AA Change: T543A

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

probably benign
Transcript: ENSMUST00000185912
AA Change: T444A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140547
Gene: ENSMUSG00000010453
AA Change: T444A

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 benign
Transcript: ENSMUST00000186470
AA Change: T543A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000140597
Gene: ENSMUSG00000010453
AA Change: T543A

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	G	C	15: 91,058,827 (GRCm39)	P539R	possibly damaging	Het
Adgrl3	A	T	5: 81,794,413 (GRCm39)	D478V	probably benign	Het
Adgrv1	A	T	13: 81,594,520 (GRCm39)	Y4165N	probably damaging	Het
Ago2	A	G	15: 72,997,065 (GRCm39)	L326P	probably damaging	Het
Akap6	A	C	12: 53,119,254 (GRCm39)	K1107T	possibly damaging	Het
Ank2	C	T	3: 126,846,381 (GRCm39)	A205T	probably damaging	Het
Ankrd27	T	C	7: 35,326,869 (GRCm39)	V738A	probably benign	Het
Asb1	A	G	1: 91,480,150 (GRCm39)	K291R	probably benign	Het
Cacna1e	G	T	1: 154,288,845 (GRCm39)	P1847T	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cps1	T	G	1: 67,198,030 (GRCm39)	M365R	probably damaging	Het
Ctc1	T	G	11: 68,917,180 (GRCm39)		probably null	Het
Cyp2b10	G	T	7: 25,616,391 (GRCm39)	G333C	probably damaging	Het
Cyp2d12	A	G	15: 82,443,403 (GRCm39)	E455G	probably damaging	Het
Daam2	A	T	17: 49,786,922 (GRCm39)	D539E	possibly damaging	Het
Dip2a	T	A	10: 76,138,096 (GRCm39)	Y370F	probably benign	Het
Dok5	G	A	2: 170,672,099 (GRCm39)	E134K	possibly damaging	Het
Dync2h1	C	T	9: 6,941,668 (GRCm39)	A4164T	probably benign	Het
Ecm2	A	G	13: 49,683,696 (GRCm39)	Y558C		Het
Eif3b	A	G	5: 140,411,064 (GRCm39)	I172V	probably benign	Het
Flnb	T	C	14: 7,873,414 (GRCm38)	F237L	probably damaging	Het
Gdpd4	A	G	7: 97,647,639 (GRCm39)	I429V	probably damaging	Het
Grik1	T	C	16: 87,848,315 (GRCm39)	Y151C		Het
Gys2	C	A	6: 142,376,037 (GRCm39)	V542L	possibly damaging	Het
Hmx1	A	G	5: 35,546,776 (GRCm39)	T106A	probably benign	Het
Il1rap	T	C	16: 26,517,604 (GRCm39)	V268A	possibly damaging	Het
Kcnk1	T	A	8: 126,752,148 (GRCm39)		probably null	Het
Larp7	CCTTCTT	CCTT	3: 127,340,008 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,740,844 (GRCm39)	F449L	probably damaging	Het
Lmod2	A	G	6: 24,603,712 (GRCm39)	E229G	probably damaging	Het
Loxl4	A	T	19: 42,586,047 (GRCm39)	V699E	possibly damaging	Het
Miga2	A	G	2: 30,273,609 (GRCm39)	D489G	probably benign	Het
Nlrp1b	T	A	11: 71,060,573 (GRCm39)	H748L	probably benign	Het
Nudcd2	T	A	11: 40,627,403 (GRCm39)	Y108N	probably damaging	Het
Or10g1	G	A	14: 52,648,075 (GRCm39)	R85*	probably null	Het
Or52b2	A	C	7: 104,985,971 (GRCm39)	C317W	probably damaging	Het
Or5b120	T	A	19: 13,479,791 (GRCm39)	I28N	possibly damaging	Het
Pcdhb17	T	A	18: 37,619,422 (GRCm39)	V404E	probably benign	Het
Pde4dip	T	C	3: 97,607,183 (GRCm39)	D2084G	probably damaging	Het
Phf20	A	T	2: 156,134,470 (GRCm39)	K552M	probably damaging	Het
Plcg2	A	G	8: 118,331,976 (GRCm39)	D854G	probably benign	Het
Psen1	A	G	12: 83,775,549 (GRCm39)	N316D	probably benign	Het
Rabgap1l	G	A	1: 160,051,818 (GRCm39)	Q361*	probably null	Het
Ralb	A	T	1: 119,399,544 (GRCm39)	D171E	probably benign	Het
Rev3l	T	C	10: 39,682,947 (GRCm39)	I355T	possibly damaging	Het
Rttn	A	G	18: 88,995,849 (GRCm39)	K211E	probably benign	Het
Scg2	A	G	1: 79,413,653 (GRCm39)	S357P	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc17a5	A	T	9: 78,445,566 (GRCm39)	W456R	probably damaging	Het
Slf1	A	T	13: 77,191,932 (GRCm39)	D967E	probably damaging	Het
Spryd3	A	T	15: 102,041,869 (GRCm39)	V51E	possibly damaging	Het
Tgfbi	A	G	13: 56,773,563 (GRCm39)	H187R	probably damaging	Het
Tmc3	A	G	7: 83,252,643 (GRCm39)	E348G	probably damaging	Het
Tmem45a2	A	G	16: 56,867,332 (GRCm39)	I123T	probably damaging	Het
Tonsl	G	A	15: 76,515,213 (GRCm39)	H1058Y	probably damaging	Het
Trav13d-1	A	G	14: 53,089,050 (GRCm39)	K20E	probably benign	Het
Trpm2	C	A	10: 77,777,014 (GRCm39)	V428L	probably benign	Het
Usp25	A	G	16: 76,904,864 (GRCm39)	Y810C	probably damaging	Het
Vmn1r40	T	A	6: 89,692,079 (GRCm39)	F299I	probably benign	Het
Vmn2r18	A	G	5: 151,499,175 (GRCm39)	F430L	probably benign	Het
Vps13c	G	A	9: 67,880,203 (GRCm39)	V3462I	probably benign	Het
Zfp955b	T	C	17: 33,521,683 (GRCm39)	I384T	probably benign	Het
Zmym4	T	C	4: 126,783,812 (GRCm39)	D1138G	probably damaging	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
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
R9287:Kansl3	UTSW	1	36,388,497 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTATGGGAGCCTCTCAAGC -3'
(R):5'- CTCAGAGGTAGTGTGTGCAG -3'

Sequencing Primer
(F):5'- GCTGCAGAGCTGATACTTCC -3'
(R):5'- AGGGAGAGGCGCCTTTACTG -3'

Posted On

2022-03-25