Mutagenetix > Incidental Mutation

Incidental Mutation 'R7784:Kat6b'

599462

Institutional Source

Beutler Lab

Gene Symbol

Kat6b

Ensembl Gene

ENSMUSG00000021767

Gene Name

K(lysine) acetyltransferase 6B

Synonyms

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

MMRRC Submission

045840-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21481434-21672478 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21660841 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 619 (I619F)

Ref Sequence

ENSEMBL: ENSMUSP00000138511 (fasta)

Gene Model

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

AlphaFold

Q8BRB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000069648
AA Change: I728F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: I728F

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: I619F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: I619F

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: I619F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: I619F

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: I728F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: I728F

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACATTGTTCCTAGTCCTGGC -3'
(R):5'- ATCCAGATTCCTTTGACCCAG -3'

Sequencing Primer
(F):5'- TGGCCCTAGCTCTGACAAC -3'
(R):5'- CCTTTGACCCAGGTTATGAAAATGG -3'

Posted On

2019-11-26