Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.856) 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

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