Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02272:Kat6b'

287212

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

Essential gene?

Probably essential (E-score: 0.857) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

21481434-21672478 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21626778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 394 (K394Q)

Ref Sequence

ENSEMBL: ENSMUSP00000138511 (fasta)

Gene Model

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

AlphaFold

Q8BRB7

Predicted Effect

probably benign
Transcript: ENSMUST00000069648
AA Change: K503Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: K503Q

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 damaging
Transcript: ENSMUST00000182405
AA Change: K394Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: K394Q

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

noncoding transcript
Transcript: ENSMUST00000182553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182732

Predicted Effect

probably damaging
Transcript: ENSMUST00000182855
AA Change: K394Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: K394Q

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: K503Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: K503Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226589

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,450,021	C759*	probably null	Het
Adgrg6	T	A	10: 14,468,829	M127L	probably damaging	Het
AI314180	A	T	4: 58,811,731	N1439K	probably benign	Het
Anxa9	A	G	3: 95,305,894	V47A	probably benign	Het
Arhgef12	T	A	9: 43,001,452	D483V	probably damaging	Het
Arrdc3	C	A	13: 80,891,650		probably benign	Het
Ccdc169	A	G	3: 55,150,748	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,960,022	V731D	possibly damaging	Het
Cdh3	G	T	8: 106,547,836		probably null	Het
Cntnap1	G	A	11: 101,178,316	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,757,411	V852E	probably damaging	Het
Csmd1	A	T	8: 16,199,893	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,993,265		probably benign	Het
Dusp6	T	A	10: 99,266,019	V289D	probably damaging	Het
Epha6	C	T	16: 59,818,937	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,779,704	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,269,803	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,164,781	V152E	probably benign	Het
Hmces	A	G	6: 87,917,855		probably null	Het
Hsph1	A	G	5: 149,617,530	S852P	probably benign	Het
Kdr	G	A	5: 75,961,840	T475I	probably benign	Het
Klhl25	A	G	7: 75,866,620	T425A	probably benign	Het
Klk1b8	T	A	7: 43,952,793	C50S	probably damaging	Het
Kri1	T	C	9: 21,276,168	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,305,769	S953P	probably benign	Het
Lpin1	A	G	12: 16,547,600	V681A	probably damaging	Het
Lpin3	A	G	2: 160,901,661	T508A	probably benign	Het
Moxd1	T	A	10: 24,282,700	Y417*	probably null	Het
Mthfd1l	T	G	10: 4,041,812	I588S	probably damaging	Het
Myo5c	C	A	9: 75,266,160	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,884,600		probably benign	Het
Nme8	T	C	13: 19,658,826	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,567,979	N249T	probably damaging	Het
Pex11g	A	G	8: 3,465,898	V45A	probably benign	Het
Pkhd1	C	A	1: 20,209,260	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,993,628	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,236,489	V353A	probably damaging	Het
Prss16	T	A	13: 22,003,035	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,721,208	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,716,566	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,598,782	L598F	probably damaging	Het
Sardh	T	G	2: 27,224,991	D550A	probably benign	Het
Serpinc1	T	G	1: 160,999,992	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,121,167	D650V	probably benign	Het
Sipa1l2	T	A	8: 125,492,011	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,583,568	T294A	probably benign	Het
Srrm2	T	C	17: 23,815,782		probably benign	Het
Steap2	T	A	5: 5,677,612	N241I	probably benign	Het
Tcaf3	T	C	6: 42,596,660	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,978,463	Q322L	probably damaging	Het
Tnni2	C	A	7: 142,443,429	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,735,028	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,976,153	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071	K331N	probably damaging	Het
Usp50	G	A	2: 126,769,944	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,385,999	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,386,004	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,786,884	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,750,693	R383G	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
IGL01128:Kat6b	APN	14	21660860	missense	probably benign
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
R9481:Kat6b	UTSW	14	21662349	small deletion	probably benign
R9526:Kat6b	UTSW	14	21517496	missense	possibly damaging	0.94

Posted On

2015-04-16