Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00264:Kat6b'

332462

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kat6b

Ensembl Gene

ENSMUSG00000021767

Gene Name

K(lysine) acetyltransferase 6B

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

IGL00264

Quality Score

Status

Chromosome

Chromosomal Location

21549284-21722546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21718627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1102 (D1102G)

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: D1102G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: D1102G

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: D993G

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

SMART Domains

Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: D993G

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: D993G

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

SMART Domains

Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: D993G

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: D1102G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: D1102G

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	T	G	1: 125,324,966 (GRCm39)	I319L	probably benign	Het
Akap7	C	T	10: 25,047,138 (GRCm39)	D20N	probably benign	Het
Ambra1	T	A	2: 91,741,934 (GRCm39)	S1070T	probably benign	Het
Arhgef9	T	C	X: 94,125,237 (GRCm39)		probably null	Het
Ascc3	T	G	10: 50,590,531 (GRCm39)	V1083G	probably damaging	Het
Asns	T	A	6: 7,680,179 (GRCm39)	E312D	probably damaging	Het
Bpifc	A	C	10: 85,796,392 (GRCm39)	V472G	possibly damaging	Het
Ccdc71	T	A	9: 108,340,237 (GRCm39)	S17T	probably damaging	Het
Cebpzos	T	C	17: 79,225,777 (GRCm39)		probably benign	Het
Cfi	T	C	3: 129,666,744 (GRCm39)	I489T	probably damaging	Het
Chrm2	T	A	6: 36,500,326 (GRCm39)	F61Y	probably damaging	Het
Cpxm1	T	C	2: 130,237,863 (GRCm39)	Y149C	probably damaging	Het
Dnah6	A	G	6: 73,172,720 (GRCm39)	I246T	probably benign	Het
Ereg	C	A	5: 91,222,638 (GRCm39)	S7Y	probably benign	Het
Ghsr	T	A	3: 27,429,022 (GRCm39)	L349Q	possibly damaging	Het
Gm10754	A	G	10: 97,518,274 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,864,475 (GRCm38)	L29H	probably benign	Het
Hexim2	A	G	11: 103,029,281 (GRCm39)	E111G	probably damaging	Het
Itga1	A	T	13: 115,128,899 (GRCm39)	N586K	possibly damaging	Het
Kif27	A	T	13: 58,485,418 (GRCm39)	M514K	probably benign	Het
Matn2	T	C	15: 34,428,616 (GRCm39)	I660T	probably damaging	Het
Mki67	C	A	7: 135,309,549 (GRCm39)	G301*	probably null	Het
Or13a25	T	A	7: 140,247,854 (GRCm39)	I211N	probably benign	Het
Or1l4b	T	C	2: 37,037,079 (GRCm39)	F285S	probably damaging	Het
Or5b121	A	C	19: 13,507,214 (GRCm39)	Y103S	probably damaging	Het
Or5b99	A	G	19: 12,976,683 (GRCm39)	Y111C	probably damaging	Het
Pcdhb8	A	T	18: 37,488,526 (GRCm39)	H68L	probably benign	Het
Pkhd1l1	T	C	15: 44,354,425 (GRCm39)	V272A	possibly damaging	Het
Pstpip2	T	C	18: 77,959,259 (GRCm39)		probably benign	Het
Rdh14	G	T	12: 10,441,134 (GRCm39)	G99W	probably damaging	Het
Rmc1	T	C	18: 12,312,276 (GRCm39)	V172A	probably benign	Het
Sra1	A	T	18: 36,801,792 (GRCm39)	S99R	probably benign	Het
Tbrg1	G	T	9: 37,562,337 (GRCm39)	N280K	probably benign	Het
Ugt8a	A	G	3: 125,708,285 (GRCm39)		probably null	Het
Usp40	A	T	1: 87,931,960 (GRCm39)		probably benign	Het
Vmn1r45	T	A	6: 89,910,646 (GRCm39)	Y108F	probably damaging	Het
Zfp521	A	G	18: 13,979,559 (GRCm39)	Y285H	probably benign	Het

Other mutations in Kat6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Kat6b	APN	14	21,710,928 (GRCm39)	missense	probably benign
IGL02272:Kat6b	APN	14	21,676,846 (GRCm39)	missense	probably damaging	0.99
IGL02349:Kat6b	APN	14	21,687,661 (GRCm39)	missense	probably damaging	0.99
IGL02402:Kat6b	APN	14	21,681,415 (GRCm39)	missense	probably damaging	1.00
IGL02474:Kat6b	APN	14	21,719,107 (GRCm39)	missense	possibly damaging	0.95
IGL02516:Kat6b	APN	14	21,659,936 (GRCm39)	splice site	probably benign
IGL02666:Kat6b	APN	14	21,678,938 (GRCm39)	missense	probably damaging	1.00
IGL02971:Kat6b	APN	14	21,719,826 (GRCm39)	missense	probably damaging	1.00
IGL03075:Kat6b	APN	14	21,711,638 (GRCm39)	nonsense	probably null
IGL03274:Kat6b	APN	14	21,659,831 (GRCm39)	missense	possibly damaging	0.95
IGL03308:Kat6b	APN	14	21,674,902 (GRCm39)	missense	probably damaging	0.99
R0118:Kat6b	UTSW	14	21,720,042 (GRCm39)	missense	probably damaging	0.99
R0383:Kat6b	UTSW	14	21,719,149 (GRCm39)	missense	probably benign	0.02
R0441:Kat6b	UTSW	14	21,720,301 (GRCm39)	missense	probably damaging	1.00
R0457:Kat6b	UTSW	14	21,720,598 (GRCm39)	missense	probably damaging	0.96
R0558:Kat6b	UTSW	14	21,719,489 (GRCm39)	missense	probably benign	0.03
R0662:Kat6b	UTSW	14	21,712,417 (GRCm39)	small deletion	probably benign
R0684:Kat6b	UTSW	14	21,718,849 (GRCm39)	missense	probably benign
R0755:Kat6b	UTSW	14	21,687,661 (GRCm39)	missense	probably damaging	0.99
R1216:Kat6b	UTSW	14	21,672,108 (GRCm39)	nonsense	probably null
R1479:Kat6b	UTSW	14	21,669,024 (GRCm39)	missense	probably benign	0.19
R1873:Kat6b	UTSW	14	21,567,057 (GRCm39)	missense	probably damaging	1.00
R1957:Kat6b	UTSW	14	21,678,947 (GRCm39)	missense	probably damaging	1.00
R2151:Kat6b	UTSW	14	21,718,735 (GRCm39)	missense	probably benign	0.02
R2152:Kat6b	UTSW	14	21,718,735 (GRCm39)	missense	probably benign	0.02
R2153:Kat6b	UTSW	14	21,718,735 (GRCm39)	missense	probably benign	0.02
R2154:Kat6b	UTSW	14	21,718,735 (GRCm39)	missense	probably benign	0.02
R2399:Kat6b	UTSW	14	21,712,417 (GRCm39)	small deletion	probably benign
R3740:Kat6b	UTSW	14	21,720,112 (GRCm39)	missense	probably damaging	0.99
R3771:Kat6b	UTSW	14	21,567,166 (GRCm39)	missense	probably damaging	1.00
R4178:Kat6b	UTSW	14	21,668,972 (GRCm39)	nonsense	probably null
R4261:Kat6b	UTSW	14	21,719,737 (GRCm39)	missense	probably damaging	1.00
R4551:Kat6b	UTSW	14	21,711,516 (GRCm39)	missense	probably damaging	1.00
R4724:Kat6b	UTSW	14	21,711,030 (GRCm39)	missense	probably benign
R5055:Kat6b	UTSW	14	21,567,062 (GRCm39)	missense	probably damaging	0.99
R5098:Kat6b	UTSW	14	21,669,083 (GRCm39)	splice site	probably benign
R5121:Kat6b	UTSW	14	21,669,326 (GRCm39)	missense	probably damaging	0.98
R5158:Kat6b	UTSW	14	21,720,054 (GRCm39)	missense	possibly damaging	0.93
R5488:Kat6b	UTSW	14	21,719,332 (GRCm39)	missense	probably damaging	1.00
R5489:Kat6b	UTSW	14	21,719,332 (GRCm39)	missense	probably damaging	1.00
R5653:Kat6b	UTSW	14	21,719,440 (GRCm39)	missense	probably benign	0.10
R5742:Kat6b	UTSW	14	21,718,503 (GRCm39)	missense	probably damaging	0.99
R5868:Kat6b	UTSW	14	21,684,547 (GRCm39)	missense	probably damaging	1.00
R5969:Kat6b	UTSW	14	21,720,860 (GRCm39)	missense	probably damaging	0.97
R6110:Kat6b	UTSW	14	21,720,555 (GRCm39)	missense	probably damaging	1.00
R6427:Kat6b	UTSW	14	21,567,480 (GRCm39)	missense	probably benign	0.24
R6457:Kat6b	UTSW	14	21,720,748 (GRCm39)	missense	probably damaging	1.00
R6639:Kat6b	UTSW	14	21,567,562 (GRCm39)	missense	possibly damaging	0.57
R6891:Kat6b	UTSW	14	21,719,104 (GRCm39)	missense	probably benign	0.01
R7784:Kat6b	UTSW	14	21,710,909 (GRCm39)	missense	probably damaging	1.00
R7916:Kat6b	UTSW	14	21,712,417 (GRCm39)	small deletion	probably benign
R7977:Kat6b	UTSW	14	21,719,931 (GRCm39)	missense	probably benign	0.00
R7987:Kat6b	UTSW	14	21,719,931 (GRCm39)	missense	probably benign	0.00
R8167:Kat6b	UTSW	14	21,719,953 (GRCm39)	missense	probably damaging	1.00
R8266:Kat6b	UTSW	14	21,566,913 (GRCm39)	start gained	probably benign
R8483:Kat6b	UTSW	14	21,719,461 (GRCm39)	missense	probably damaging	1.00
R8902:Kat6b	UTSW	14	21,719,629 (GRCm39)	missense	probably benign	0.30
R8909:Kat6b	UTSW	14	21,719,214 (GRCm39)	missense	probably benign
R8931:Kat6b	UTSW	14	21,674,995 (GRCm39)	missense	probably damaging	0.98
R9112:Kat6b	UTSW	14	21,675,256 (GRCm39)	missense	possibly damaging	0.85
R9182:Kat6b	UTSW	14	21,567,187 (GRCm39)	missense	probably benign	0.20
R9224:Kat6b	UTSW	14	21,720,031 (GRCm39)	missense	probably benign	0.14
R9273:Kat6b	UTSW	14	21,711,551 (GRCm39)	missense	probably benign	0.07
R9332:Kat6b	UTSW	14	21,720,093 (GRCm39)	missense	probably benign	0.00
R9380:Kat6b	UTSW	14	21,678,926 (GRCm39)	missense	probably damaging	1.00
R9397:Kat6b	UTSW	14	21,675,244 (GRCm39)	missense	possibly damaging	0.94
R9400:Kat6b	UTSW	14	21,659,826 (GRCm39)	missense	probably damaging	0.99
R9432:Kat6b	UTSW	14	21,672,077 (GRCm39)	missense	probably damaging	0.99
R9481:Kat6b	UTSW	14	21,712,417 (GRCm39)	small deletion	probably benign
R9526:Kat6b	UTSW	14	21,567,564 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-08-05