Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02474:Kat6b'

294876

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 #

IGL02474

Quality Score

Status

Chromosome

Chromosomal Location

21549284-21722546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21719107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1153 (L1153Q)

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: L1262Q

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: L1262Q

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

possibly damaging
Transcript: ENSMUST00000182405
AA Change: L1153Q

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: L1153Q

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

possibly damaging
Transcript: ENSMUST00000182855
AA Change: L1153Q

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: L1153Q

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: L1262Q

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: L1262Q

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,038,491 (GRCm39)	E283G	probably damaging	Het
Ahnak	A	G	19: 8,982,297 (GRCm39)	I1194V	probably benign	Het
Aqr	T	A	2: 113,943,127 (GRCm39)	N1149Y	probably damaging	Het
Bms1	T	C	6: 118,393,480 (GRCm39)	I131V	probably benign	Het
Cacna1s	A	C	1: 136,046,118 (GRCm39)	T1461P	probably benign	Het
Chrnb3	T	C	8: 27,883,397 (GRCm39)	S113P	probably damaging	Het
Col1a2	C	T	6: 4,516,398 (GRCm39)	R171C	unknown	Het
Cramp1	A	G	17: 25,204,024 (GRCm39)	V318A	probably damaging	Het
Csf2ra	A	G	19: 61,214,975 (GRCm39)	V163A	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ctnnd2	A	G	15: 30,669,708 (GRCm39)	D439G	possibly damaging	Het
Dnah11	T	A	12: 117,991,180 (GRCm39)		probably null	Het
Dyrk4	C	A	6: 126,857,194 (GRCm39)	C495F	probably damaging	Het
Gabra6	A	G	11: 42,198,244 (GRCm39)	V402A	probably benign	Het
Gba2	T	C	4: 43,568,538 (GRCm39)	M643V	possibly damaging	Het
Gbp9	A	T	5: 105,242,433 (GRCm39)		probably benign	Het
Ginm1	A	G	10: 7,653,532 (GRCm39)		probably benign	Het
Git1	T	A	11: 77,394,217 (GRCm39)	D282E	probably damaging	Het
Gm5799	T	C	14: 43,782,086 (GRCm39)	I86T	probably damaging	Het
Gm9894	T	C	13: 67,913,213 (GRCm39)		noncoding transcript	Het
Gng12	A	G	6: 66,992,745 (GRCm39)	K4R	probably benign	Het
Hnrnpul1	A	T	7: 25,426,182 (GRCm39)	D556E	probably benign	Het
Ly75	A	T	2: 60,213,526 (GRCm39)	L17Q	probably null	Het
Mc5r	T	C	18: 68,471,910 (GRCm39)	F90L	probably damaging	Het
Or1x2	C	A	11: 50,918,192 (GRCm39)	A121D	probably damaging	Het
Or5k8	A	T	16: 58,645,019 (GRCm39)	S18T	probably benign	Het
Or6b13	T	C	7: 139,782,500 (GRCm39)	Y61C	probably damaging	Het
Or7c70	A	T	10: 78,682,897 (GRCm39)	M284K	probably damaging	Het
Or8b9	A	T	9: 37,766,656 (GRCm39)	I181L	probably benign	Het
Pi4ka	A	T	16: 17,143,293 (GRCm39)	Y6N	probably damaging	Het
Polr2g	C	A	19: 8,775,820 (GRCm39)		probably null	Het
Psme3	A	G	11: 101,208,480 (GRCm39)	Q82R	probably benign	Het
Rab11a	G	T	9: 64,633,929 (GRCm39)	T17K	possibly damaging	Het
Rbm12	A	T	2: 155,940,017 (GRCm39)	L85Q	probably damaging	Het
Skap1	A	T	11: 96,599,512 (GRCm39)	Y188F	probably damaging	Het
Tmprss6	A	T	15: 78,326,536 (GRCm39)	F34I	probably damaging	Het
Trip12	A	C	1: 84,771,854 (GRCm39)	I98S	probably benign	Het
Ttn	T	C	2: 76,708,532 (GRCm39)		probably benign	Het
Ube2t	A	T	1: 134,899,079 (GRCm39)	K21*	probably null	Het
Vmn1r216	T	C	13: 23,283,647 (GRCm39)	V110A	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,150 (GRCm39)	F736I	probably benign	Het
Vps13c	A	G	9: 67,845,158 (GRCm39)	T2081A	probably benign	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het

Other mutations in Kat6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Kat6b	APN	14	21,718,627 (GRCm39)	missense	probably benign	0.00
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
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

2015-04-16