Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01128:Kat6b'

52715

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kat6b

Ensembl Gene

ENSMUSG00000021767

Gene Name

K(lysine) acetyltransferase 6B

Synonyms

Myst4, monocytic leukemia, querkopf, B130044K16Rik, Morf, qkf

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.935) question?

Stock #

IGL01128

Quality Score

Status

Chromosome

Chromosomal Location

21481434-21672478 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21660860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 734 (R734H)

Ref Sequence

ENSEMBL: ENSMUSP00000138421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069648] [ENSMUST00000112458] [ENSMUST00000182405] [ENSMUST00000182855] [ENSMUST00000182964]

AlphaFold

Q8BRB7

Predicted Effect

probably benign
Transcript: ENSMUST00000069648
AA Change: R734H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: R734H

Domain	Start	End	E-Value	Type
H15	94	171	1.7e-12	SMART
low complexity region	189	203	N/A	INTRINSIC
PHD	216	271	6.6e-5	SMART
PHD	272	319	5.56e-12	SMART
low complexity region	386	398	N/A	INTRINSIC
low complexity region	411	425	N/A	INTRINSIC
Blast:PHD	483	573	3e-51	BLAST
Pfam:MOZ_SAS	594	772	4.5e-85	PFAM
coiled coil region	811	845	N/A	INTRINSIC
coiled coil region	875	913	N/A	INTRINSIC
low complexity region	926	943	N/A	INTRINSIC
low complexity region	946	959	N/A	INTRINSIC
low complexity region	1153	1175	N/A	INTRINSIC
low complexity region	1207	1237	N/A	INTRINSIC
low complexity region	1391	1410	N/A	INTRINSIC
low complexity region	1450	1464	N/A	INTRINSIC
low complexity region	1490	1517	N/A	INTRINSIC
low complexity region	1676	1695	N/A	INTRINSIC
low complexity region	1811	1832	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112458

SMART Domains

Protein: ENSMUSP00000108077
Gene: ENSMUSG00000021767

Domain	Start	End	E-Value	Type
H15	94	159	3.4e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182405
AA Change: R625H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: R625H

Domain	Start	End	E-Value	Type
H15	94	171	1.7e-12	SMART
low complexity region	189	203	N/A	INTRINSIC
PHD	216	271	6.6e-5	SMART
PHD	272	319	5.56e-12	SMART
Pfam:MOZ_SAS	482	669	1.3e-89	PFAM
coiled coil region	702	736	N/A	INTRINSIC
coiled coil region	766	804	N/A	INTRINSIC
low complexity region	817	834	N/A	INTRINSIC
low complexity region	837	850	N/A	INTRINSIC
low complexity region	1044	1066	N/A	INTRINSIC
low complexity region	1098	1128	N/A	INTRINSIC
low complexity region	1282	1301	N/A	INTRINSIC
low complexity region	1341	1355	N/A	INTRINSIC
low complexity region	1381	1408	N/A	INTRINSIC
low complexity region	1567	1586	N/A	INTRINSIC
low complexity region	1702	1723	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182855
AA Change: R625H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: R625H

Domain	Start	End	E-Value	Type
H15	94	171	1.7e-12	SMART
low complexity region	189	203	N/A	INTRINSIC
PHD	216	271	6.6e-5	SMART
PHD	272	319	5.56e-12	SMART
Pfam:MOZ_SAS	482	669	1.3e-89	PFAM
coiled coil region	702	736	N/A	INTRINSIC
coiled coil region	766	804	N/A	INTRINSIC
low complexity region	817	834	N/A	INTRINSIC
low complexity region	837	850	N/A	INTRINSIC
low complexity region	1044	1066	N/A	INTRINSIC
low complexity region	1098	1128	N/A	INTRINSIC
low complexity region	1282	1301	N/A	INTRINSIC
low complexity region	1341	1355	N/A	INTRINSIC
low complexity region	1381	1408	N/A	INTRINSIC
low complexity region	1567	1586	N/A	INTRINSIC
low complexity region	1702	1723	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182964
AA Change: R734H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: R734H

Domain	Start	End	E-Value	Type
H15	94	171	1.7e-12	SMART
low complexity region	189	203	N/A	INTRINSIC
PHD	216	271	6.6e-5	SMART
PHD	272	319	5.56e-12	SMART
low complexity region	386	398	N/A	INTRINSIC
low complexity region	411	425	N/A	INTRINSIC
Blast:PHD	483	573	3e-51	BLAST
Pfam:MOZ_SAS	591	778	1.4e-89	PFAM
coiled coil region	811	845	N/A	INTRINSIC
coiled coil region	875	913	N/A	INTRINSIC
low complexity region	926	943	N/A	INTRINSIC
low complexity region	946	959	N/A	INTRINSIC
low complexity region	1153	1175	N/A	INTRINSIC
low complexity region	1207	1237	N/A	INTRINSIC
low complexity region	1391	1410	N/A	INTRINSIC
low complexity region	1450	1464	N/A	INTRINSIC
low complexity region	1490	1517	N/A	INTRINSIC
low complexity region	1676	1695	N/A	INTRINSIC
low complexity region	1811	1832	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Reduced expression of this gene results in developmental defects of the skeleton and brain, particularly the cerebral cortex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adgrf5	G	T	17: 43,422,509	D75Y	possibly damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Ahi1	A	G	10: 21,074,433	T128A	probably benign	Het
Bves	T	A	10: 45,353,848	F249L	probably damaging	Het
Capns1	T	C	7: 30,190,133	I214V	probably benign	Het
Cgnl1	G	T	9: 71,724,561	Q503K	possibly damaging	Het
Ep300	A	G	15: 81,630,006		probably benign	Het
Fam117b	T	A	1: 59,969,018	F337Y	probably damaging	Het
Fam178b	A	T	1: 36,644,354	V95E	probably damaging	Het
Gak	T	A	5: 108,592,370	M560L	probably damaging	Het
Gna11	C	A	10: 81,530,884	A331S	probably damaging	Het
Gtf3c3	A	C	1: 54,428,876	F201V	possibly damaging	Het
Lag3	T	C	6: 124,909,417	D191G	probably damaging	Het
Mttp	T	A	3: 138,133,997		probably null	Het
Nlgn3	A	T	X: 101,320,092	T790S	probably benign	Het
Olfr1487	G	A	19: 13,619,746	E195K	probably damaging	Het
Olfr743	A	G	14: 50,533,949	D179G	probably damaging	Het
Pkd2l2	T	A	18: 34,417,015	Y238N	probably damaging	Het
Plg	A	T	17: 12,396,699		probably benign	Het
Ptprm	A	T	17: 67,042,101	C376S	probably damaging	Het
Rexo1	T	C	10: 80,549,739	D495G	probably benign	Het
Rims1	A	T	1: 22,534,175	V315D	probably damaging	Het
Ros1	G	A	10: 52,142,328	Q745*	probably null	Het
Satb1	A	G	17: 51,805,289	V99A	probably damaging	Het
Sema3e	C	T	5: 14,232,115	P422S	probably damaging	Het
Stkld1	G	T	2: 26,951,471	W476L	probably benign	Het
Syna	T	C	5: 134,559,480	D205G	probably damaging	Het
Tas2r134	G	T	2: 51,627,659	C50F	probably damaging	Het
Togaram1	A	G	12: 64,980,876	T880A	probably benign	Het
Uckl1	T	C	2: 181,570,337	E363G	probably damaging	Het
Yeats2	T	A	16: 20,161,968		probably benign	Het

Other mutations in Kat6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Kat6b	APN	14	21668559	missense	probably benign	0.00
IGL02272:Kat6b	APN	14	21626778	missense	probably damaging	0.99
IGL02349:Kat6b	APN	14	21637593	missense	probably damaging	0.99
IGL02402:Kat6b	APN	14	21631347	missense	probably damaging	1.00
IGL02474:Kat6b	APN	14	21669039	missense	possibly damaging	0.95
IGL02516:Kat6b	APN	14	21609868	splice site	probably benign
IGL02666:Kat6b	APN	14	21628870	missense	probably damaging	1.00
IGL02971:Kat6b	APN	14	21669758	missense	probably damaging	1.00
IGL03075:Kat6b	APN	14	21661570	nonsense	probably null
IGL03274:Kat6b	APN	14	21609763	missense	possibly damaging	0.95
IGL03308:Kat6b	APN	14	21624834	missense	probably damaging	0.99
R0118:Kat6b	UTSW	14	21669974	missense	probably damaging	0.99
R0383:Kat6b	UTSW	14	21669081	missense	probably benign	0.02
R0441:Kat6b	UTSW	14	21670233	missense	probably damaging	1.00
R0457:Kat6b	UTSW	14	21670530	missense	probably damaging	0.96
R0558:Kat6b	UTSW	14	21669421	missense	probably benign	0.03
R0662:Kat6b	UTSW	14	21662349	small deletion	probably benign
R0684:Kat6b	UTSW	14	21668781	missense	probably benign
R0755:Kat6b	UTSW	14	21637593	missense	probably damaging	0.99
R1216:Kat6b	UTSW	14	21622040	nonsense	probably null
R1479:Kat6b	UTSW	14	21618956	missense	probably benign	0.19
R1873:Kat6b	UTSW	14	21516989	missense	probably damaging	1.00
R1957:Kat6b	UTSW	14	21628879	missense	probably damaging	1.00
R2151:Kat6b	UTSW	14	21668667	missense	probably benign	0.02
R2152:Kat6b	UTSW	14	21668667	missense	probably benign	0.02
R2153:Kat6b	UTSW	14	21668667	missense	probably benign	0.02
R2154:Kat6b	UTSW	14	21668667	missense	probably benign	0.02
R2399:Kat6b	UTSW	14	21662349	small deletion	probably benign
R3740:Kat6b	UTSW	14	21670044	missense	probably damaging	0.99
R3771:Kat6b	UTSW	14	21517098	missense	probably damaging	1.00
R4178:Kat6b	UTSW	14	21618904	nonsense	probably null
R4261:Kat6b	UTSW	14	21669669	missense	probably damaging	1.00
R4551:Kat6b	UTSW	14	21661448	missense	probably damaging	1.00
R4724:Kat6b	UTSW	14	21660962	missense	probably benign
R5055:Kat6b	UTSW	14	21516994	missense	probably damaging	0.99
R5098:Kat6b	UTSW	14	21619015	splice site	probably benign
R5121:Kat6b	UTSW	14	21619258	missense	probably damaging	0.98
R5158:Kat6b	UTSW	14	21669986	missense	possibly damaging	0.93
R5488:Kat6b	UTSW	14	21669264	missense	probably damaging	1.00
R5489:Kat6b	UTSW	14	21669264	missense	probably damaging	1.00
R5653:Kat6b	UTSW	14	21669372	missense	probably benign	0.10
R5742:Kat6b	UTSW	14	21668435	missense	probably damaging	0.99
R5868:Kat6b	UTSW	14	21634479	missense	probably damaging	1.00
R5969:Kat6b	UTSW	14	21670792	missense	probably damaging	0.97
R6110:Kat6b	UTSW	14	21670487	missense	probably damaging	1.00
R6427:Kat6b	UTSW	14	21517412	missense	probably benign	0.24
R6457:Kat6b	UTSW	14	21670680	missense	probably damaging	1.00
R6639:Kat6b	UTSW	14	21517494	missense	possibly damaging	0.57
R6891:Kat6b	UTSW	14	21669036	missense	probably benign	0.01
R7784:Kat6b	UTSW	14	21660841	missense	probably damaging	1.00
R7916:Kat6b	UTSW	14	21662349	small deletion	probably benign
R7977:Kat6b	UTSW	14	21669863	missense	probably benign	0.00
R7987:Kat6b	UTSW	14	21669863	missense	probably benign	0.00
R8167:Kat6b	UTSW	14	21669885	missense	probably damaging	1.00
R8266:Kat6b	UTSW	14	21516845	start gained	probably benign
R8483:Kat6b	UTSW	14	21669393	missense	probably damaging	1.00
R8902:Kat6b	UTSW	14	21669561	missense	probably benign	0.30
R8909:Kat6b	UTSW	14	21669146	missense	probably benign
R8931:Kat6b	UTSW	14	21624927	missense	probably damaging	0.98
R9112:Kat6b	UTSW	14	21625188	missense	possibly damaging	0.85
R9182:Kat6b	UTSW	14	21517119	missense	probably benign	0.20
R9224:Kat6b	UTSW	14	21669963	missense	probably benign	0.14
R9273:Kat6b	UTSW	14	21661483	missense	probably benign	0.07
R9332:Kat6b	UTSW	14	21670025	missense	probably benign	0.00
R9380:Kat6b	UTSW	14	21628858	missense	probably damaging	1.00
R9397:Kat6b	UTSW	14	21625176	missense	possibly damaging	0.94
R9400:Kat6b	UTSW	14	21609758	missense	probably damaging	0.99
R9432:Kat6b	UTSW	14	21622009	missense	probably damaging	0.99

Posted On

2013-06-21