Mutagenetix > Incidental Mutation

Incidental Mutation 'R7571:Kansl3'

585777

Institutional Source

Beutler Lab

Gene Symbol

Kansl3

Ensembl Gene

ENSMUSG00000010453

Gene Name

KAT8 regulatory NSL complex subunit 3

Synonyms

4632411B12Rik

MMRRC Submission

045711-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7571 (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 A at 36404668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 94 (Q94L)

Ref Sequence

ENSEMBL: ENSMUSP00000140597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010597] [ENSMUST00000185621] [ENSMUST00000185912] [ENSMUST00000186470] [ENSMUST00000187628] [ENSMUST00000188528] [ENSMUST00000188957] [ENSMUST00000188961]

AlphaFold

A2RSY1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010597
AA Change: Q94L

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000010597
Gene: ENSMUSG00000010453
AA Change: Q94L

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: ENSMUST00000185621

Predicted Effect

probably benign
Transcript: ENSMUST00000185912

SMART Domains

Protein: ENSMUSP00000140547
Gene: ENSMUSG00000010453

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: Q94L

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140597
Gene: ENSMUSG00000010453
AA Change: Q94L

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: ENSMUST00000187628

Predicted Effect

probably benign
Transcript: ENSMUST00000188528

Predicted Effect

probably benign
Transcript: ENSMUST00000188957

Predicted Effect

probably benign
Transcript: ENSMUST00000188961

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,119,211 (GRCm39)	N985I	probably benign	Het
Abi3bp	T	A	16: 56,451,345 (GRCm39)		probably null	Het
Acad12	A	T	5: 121,745,257 (GRCm39)	Y309*	probably null	Het
Acadsb	G	T	7: 131,045,283 (GRCm39)	R405L	probably damaging	Het
Acan	G	A	7: 78,736,015 (GRCm39)	V154M	probably damaging	Het
Adam22	G	A	5: 8,132,160 (GRCm39)	R894*	probably null	Het
Ahnak	A	T	19: 8,978,150 (GRCm39)	K90*	probably null	Het
Ak4	T	C	4: 101,317,739 (GRCm39)	I103T	probably benign	Het
Ap4e1	C	T	2: 126,861,256 (GRCm39)	L132F	probably damaging	Het
Apol7b	C	T	15: 77,307,677 (GRCm39)	V273I	probably benign	Het
Arhgef37	T	A	18: 61,637,403 (GRCm39)	I420F	probably damaging	Het
Atg13	C	T	2: 91,510,687 (GRCm39)		probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cabin1	A	T	10: 75,482,500 (GRCm39)	S2148T	probably damaging	Het
Cacna1i	T	C	15: 80,259,537 (GRCm39)	V1269A	probably damaging	Het
Cdipt	T	C	7: 126,578,794 (GRCm39)	I195T	probably benign	Het
Ces2b	A	T	8: 105,561,641 (GRCm39)	H245L	probably damaging	Het
Cimip2c	A	T	5: 30,639,502 (GRCm39)	E143V	possibly damaging	Het
Clstn1	T	G	4: 149,730,744 (GRCm39)	M825R	probably benign	Het
Cntn3	G	A	6: 102,255,364 (GRCm39)	T178I	probably damaging	Het
Col7a1	A	G	9: 108,811,775 (GRCm39)	M2789V	probably null	Het
Col9a2	A	T	4: 120,896,981 (GRCm39)	I24F	unknown	Het
Cpne2	T	C	8: 95,278,408 (GRCm39)	M134T	probably benign	Het
Cpt1b	A	G	15: 89,305,546 (GRCm39)		probably null	Het
Crocc	T	C	4: 140,773,360 (GRCm39)		probably null	Het
Cts8	T	C	13: 61,395,981 (GRCm39)	Y330C	probably damaging	Het
Cwc22	T	C	2: 77,747,411 (GRCm39)	D434G	probably benign	Het
Cyp3a13	T	C	5: 137,897,125 (GRCm39)	I396M	possibly damaging	Het
Ddr2	A	T	1: 169,829,420 (GRCm39)	I278N	probably benign	Het
Dnaaf5	A	G	5: 139,155,963 (GRCm39)	E548G	possibly damaging	Het
Dync2h1	A	G	9: 7,002,623 (GRCm39)	L3808P	probably damaging	Het
Faf2	T	A	13: 54,798,027 (GRCm39)	W209R	probably damaging	Het
Fbln2	A	T	6: 91,245,557 (GRCm39)	E992D	probably damaging	Het
Fdxacb1	T	A	9: 50,683,093 (GRCm39)	V352D	probably damaging	Het
Flg2	G	T	3: 93,127,303 (GRCm39)	G2072*	probably null	Het
Flii	A	T	11: 60,611,962 (GRCm39)	L347Q	probably damaging	Het
Fndc3a	A	T	14: 72,827,336 (GRCm39)	H116Q	probably damaging	Het
Fnta	A	T	8: 26,505,493 (GRCm39)	M39K	probably benign	Het
Gabra4	A	G	5: 71,729,335 (GRCm39)	S482P	probably benign	Het
Gapdhs	G	A	7: 30,437,383 (GRCm39)	P61S	unknown	Het
Gm10153	A	T	7: 141,743,401 (GRCm39)	C242*	probably null	Het
Gp1ba	A	G	11: 70,530,920 (GRCm39)	I229V	unknown	Het
Grap2	T	A	15: 80,527,905 (GRCm39)	L117Q	probably damaging	Het
Grik5	A	G	7: 24,713,310 (GRCm39)	I766T	possibly damaging	Het
Hrh3	A	T	2: 179,743,079 (GRCm39)	I183N	probably damaging	Het
Htr5a	C	A	5: 28,047,893 (GRCm39)	Y149*	probably null	Het
Ibtk	T	C	9: 85,604,353 (GRCm39)	I527V	probably benign	Het
Il33	T	A	19: 29,934,341 (GRCm39)	S184R	probably damaging	Het
Katnip	C	T	7: 125,307,193 (GRCm39)		probably benign	Het
Kcnh6	A	G	11: 105,908,242 (GRCm39)	D286G	probably benign	Het
Kmt2e	T	A	5: 23,683,585 (GRCm39)	M281K	probably damaging	Het
Lrp2	T	A	2: 69,346,747 (GRCm39)	H833L	probably damaging	Het
Meis1	A	T	11: 18,891,702 (GRCm39)	V282E	probably damaging	Het
Mfsd8	T	G	3: 40,785,097 (GRCm39)	D240A	probably damaging	Het
Muc5b	A	G	7: 141,400,986 (GRCm39)	T534A	unknown	Het
Myo18b	G	A	5: 112,978,194 (GRCm39)	L1243F	probably damaging	Het
Nefl	A	G	14: 68,322,123 (GRCm39)	I238V	probably benign	Het
Nexn	T	A	3: 151,959,284 (GRCm39)	I62F	possibly damaging	Het
Niban1	T	C	1: 151,594,048 (GRCm39)	V911A	probably benign	Het
Notch4	T	C	17: 34,802,548 (GRCm39)	L1323P	probably damaging	Het
Or51h1	T	C	7: 102,308,258 (GRCm39)	S77P	probably damaging	Het
Or5p68	A	T	7: 107,945,689 (GRCm39)	F166L	probably benign	Het
Or8b1	T	C	9: 38,399,952 (GRCm39)	V209A	probably benign	Het
Patj	C	A	4: 98,457,217 (GRCm39)	H1244N	probably damaging	Het
Peg10	T	A	6: 4,756,082 (GRCm39)	D219E	unknown	Het
Pi4kb	G	T	3: 94,906,425 (GRCm39)		probably null	Het
Piezo1	A	G	8: 123,225,157 (GRCm39)	F614S		Het
Pisd	T	A	5: 32,894,681 (GRCm39)	N372Y	probably damaging	Het
Piwil4	T	C	9: 14,645,893 (GRCm39)	D178G	probably benign	Het
Plekho1	G	T	3: 95,896,566 (GRCm39)	P301Q	probably damaging	Het
Pop1	T	A	15: 34,529,093 (GRCm39)	W738R	probably null	Het
Ppp4r1	C	T	17: 66,117,611 (GRCm39)	P125L	possibly damaging	Het
Pramel48	A	T	5: 95,630,819 (GRCm39)	N232I	probably damaging	Het
Prdm9	T	A	17: 15,783,526 (GRCm39)	N13I	probably damaging	Het
Psd4	T	G	2: 24,297,023 (GRCm39)	V932G	probably damaging	Het
Ptger3	T	C	3: 157,347,412 (GRCm39)	S355P	probably benign	Het
Ptprb	T	C	10: 116,175,335 (GRCm39)	V823A	probably damaging	Het
Ptprj	C	T	2: 90,285,530 (GRCm39)	V841I	probably benign	Het
Ranbp3	T	C	17: 57,014,923 (GRCm39)	S281P	probably benign	Het
Rasal3	T	A	17: 32,614,835 (GRCm39)	M541L	possibly damaging	Het
Rassf1	A	G	9: 107,428,982 (GRCm39)	T63A	possibly damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rgs4	G	A	1: 169,571,927 (GRCm39)	T124I	probably damaging	Het
Rspo2	T	A	15: 43,033,372 (GRCm39)		probably benign	Het
Scgn	T	C	13: 24,137,897 (GRCm39)	D258G	probably damaging	Het
Shkbp1	A	G	7: 27,046,556 (GRCm39)	S403P	possibly damaging	Het
Slc25a13	A	G	6: 6,052,785 (GRCm39)	L525P	probably damaging	Het
Snd1	G	T	6: 28,526,202 (GRCm39)	K193N	possibly damaging	Het
Sntg2	C	T	12: 30,225,201 (GRCm39)	A516T	probably damaging	Het
Stard13	A	G	5: 150,982,967 (GRCm39)	I699T	probably damaging	Het
Svil	T	A	18: 5,114,636 (GRCm39)	V1984D	probably damaging	Het
Swt1	A	G	1: 151,270,470 (GRCm39)	S582P	probably benign	Het
Sypl2	A	G	3: 108,121,854 (GRCm39)	*265Q	probably null	Het
Taar8a	T	A	10: 23,953,306 (GRCm39)	Y303*	probably null	Het
Tasor2	T	C	13: 3,625,292 (GRCm39)	T1553A	probably benign	Het
Tlr2	T	A	3: 83,743,849 (GRCm39)	I745F	probably damaging	Het
Tnrc6b	A	G	15: 80,813,594 (GRCm39)	T1784A	probably benign	Het
Tpo	C	A	12: 30,169,431 (GRCm39)	M101I	probably benign	Het
Trpm2	G	T	10: 77,773,784 (GRCm39)	R544S	probably benign	Het
Ttc14	A	G	3: 33,863,400 (GRCm39)	R603G	unknown	Het
Tubgcp6	A	C	15: 88,984,925 (GRCm39)	V1694G	probably damaging	Het
Uba6	C	A	5: 86,294,970 (GRCm39)	K356N	probably benign	Het
Usp16	T	C	16: 87,261,723 (GRCm39)	V113A	possibly damaging	Het
Vcam1	G	A	3: 115,908,032 (GRCm39)	Q677*	probably null	Het
Vmn1r238	T	A	18: 3,122,721 (GRCm39)	E231V	probably damaging	Het
Vmn1r70	T	C	7: 10,367,871 (GRCm39)	F120L	probably benign	Het
Vmn2r116	T	A	17: 23,603,830 (GRCm39)		probably null	Het
Vmn2r5	A	T	3: 64,411,825 (GRCm39)	C248S	probably damaging	Het
Vmn2r87	A	T	10: 130,314,940 (GRCm39)	D215E	probably damaging	Het
Xkr4	T	G	1: 3,740,911 (GRCm39)	I221L	probably benign	Het
Zfp366	T	C	13: 99,382,895 (GRCm39)	I686T	probably benign	Het
Zfp398	T	A	6: 47,843,666 (GRCm39)	C573S	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
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'- AGCGAAATGAGATGAGCTCTAGTC -3'
(R):5'- AATGACCTTGCCTTTCCCAG -3'

Sequencing Primer
(F):5'- GAGATGAGCTCTAGTCAACATTTC -3'
(R):5'- TTTCCCAGGCACACAGC -3'

Posted On

2019-10-17