Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Kat6b'

365820

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: 0.896) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

21481434-21672478 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21669758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1502 (S1502G)

Ref Sequence

ENSEMBL: ENSMUSP00000138421 (fasta)

Gene Model

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

AlphaFold

Q8BRB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000069648
AA Change: S1502G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: S1502G

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: S1393G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: S1393G

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 damaging
Transcript: ENSMUST00000182855
AA Change: S1393G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: S1393G

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 damaging
Transcript: ENSMUST00000182964
AA Change: S1502G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: S1502G

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Iqgap3	T	A	3: 88,090,304	N262K	probably benign	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243	F671S	probably damaging	Het
Naca	C	T	10: 128,041,568		probably benign	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470		probably null	Het
Slc5a9	T	C	4: 111,890,300	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Uspl1	A	G	5: 149,188,346	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	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
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
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

2015-12-18