Mutagenetix > Incidental Mutation

Incidental Mutation 'R6036:Zfp780b'

479206

Institutional Source

Beutler Lab

Gene Symbol

Zfp780b

Ensembl Gene

ENSMUSG00000063047

Gene Name

zinc finger protein 780B

Synonyms

B230208L21Rik

MMRRC Submission

043257-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27959135-27979171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27963568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 521 (Y521H)

Ref Sequence

ENSEMBL: ENSMUSP00000146224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081618] [ENSMUST00000205874] [ENSMUST00000206685]

AlphaFold

E9Q2S6

Predicted Effect

probably damaging
Transcript: ENSMUST00000081618
AA Change: Y521H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080324
Gene: ENSMUSG00000063047
AA Change: Y521H

Domain	Start	End	E-Value	Type
KRAB	14	75	8.48e-36	SMART
ZnF_C2H2	171	193	2.91e-2	SMART
ZnF_C2H2	199	221	3.44e-4	SMART
ZnF_C2H2	227	249	3.11e-2	SMART
ZnF_C2H2	255	277	2.4e-3	SMART
ZnF_C2H2	283	305	2.15e-5	SMART
ZnF_C2H2	311	333	1.18e-2	SMART
ZnF_C2H2	339	361	1.47e-3	SMART
ZnF_C2H2	367	389	1.79e-2	SMART
ZnF_C2H2	395	417	2.24e-3	SMART
ZnF_C2H2	423	445	7.9e-4	SMART
ZnF_C2H2	451	473	8.34e-3	SMART
ZnF_C2H2	479	501	7.9e-4	SMART
ZnF_C2H2	507	529	3.16e-3	SMART
ZnF_C2H2	535	557	1.58e-3	SMART
ZnF_C2H2	563	585	9.08e-4	SMART
ZnF_C2H2	591	613	1.36e-2	SMART
ZnF_C2H2	619	641	1.04e-3	SMART
ZnF_C2H2	647	669	1.2e-3	SMART
ZnF_C2H2	675	697	2.24e-3	SMART
ZnF_C2H2	703	725	1.03e-2	SMART
ZnF_C2H2	731	753	4.17e-3	SMART
ZnF_C2H2	759	781	1.78e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205874

Predicted Effect

probably damaging
Transcript: ENSMUST00000206685
AA Change: Y521H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.6%
20x: 72.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	T	C	11: 95,832,858		probably benign	Het
Ago1	C	T	4: 126,443,228	R228H	probably damaging	Het
Alpk3	G	A	7: 81,093,257	V941M	probably benign	Het
Ano4	A	G	10: 88,982,265	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 44,098,831	Y464H	probably benign	Het
Barx2	A	T	9: 31,913,008	D28E	probably damaging	Het
Cabp5	A	T	7: 13,401,335	M67L	probably damaging	Het
Col10a1	A	G	10: 34,395,282	T417A	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Eif4enif1	T	C	11: 3,239,420	S227P	probably damaging	Het
Erv3	G	A	2: 131,856,005	H145Y	possibly damaging	Het
Exoc5	T	C	14: 49,014,322	T591A	possibly damaging	Het
F5	A	T	1: 164,184,996	E493V	probably damaging	Het
Gm8444	G	T	15: 81,843,593		probably benign	Het
Gria4	T	A	9: 4,537,646	I221L	probably benign	Het
Hc	T	C	2: 35,039,684	T249A	probably benign	Het
Herc2	A	G	7: 56,068,053	T48A	probably benign	Het
Hist1h2bl	A	T	13: 21,715,978	S56T	probably damaging	Het
Hp	A	G	8: 109,576,774		probably null	Het
Ifna15	T	G	4: 88,558,073	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,397,125	M262L	probably benign	Het
Krt83	A	C	15: 101,487,531	I320S	possibly damaging	Het
Megf10	A	G	18: 57,242,727	N242D	probably damaging	Het
Nup155	A	G	15: 8,128,411	T451A	probably benign	Het
Olfr1277	C	T	2: 111,269,612	G252R	probably damaging	Het
Olfr1288	T	C	2: 111,478,988	L68P	probably damaging	Het
Olfr559	T	A	7: 102,724,485	I2F	probably benign	Het
Olfr701	A	T	7: 106,818,460	I126F	probably damaging	Het
Olfr930	A	G	9: 38,930,920	I250V	probably damaging	Het
Pdzd8	G	A	19: 59,305,209	P403S	probably damaging	Het
Piezo2	G	A	18: 63,114,948	Q494*	probably null	Het
Plag1	T	C	4: 3,904,618	E191G	possibly damaging	Het
Pou4f2	A	T	8: 78,435,474	S167T	probably damaging	Het
Scd4	G	A	19: 44,344,792	D319N	probably damaging	Het
Senp2	A	T	16: 22,028,558	R279*	probably null	Het
Sh3rf3	G	A	10: 58,813,984	G137D	probably benign	Het
Simc1	C	T	13: 54,524,621	P261S	probably benign	Het
Slc26a1	T	A	5: 108,673,570	D151V	probably damaging	Het
Snx29	A	G	16: 11,738,437		probably null	Het
Stard9	C	T	2: 120,700,075	A2271V	probably benign	Het
Stat6	A	G	10: 127,655,444	N485D	possibly damaging	Het
Tpcn2	T	C	7: 145,268,869	T280A	possibly damaging	Het
Ttc23	A	G	7: 67,711,366	I378V	possibly damaging	Het
Ttc29	A	G	8: 78,325,576	D362G	probably benign	Het
Ttll7	A	G	3: 146,940,162	I592V	probably benign	Het
Ugt3a1	A	T	15: 9,306,086	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,633,903	Q87R	probably damaging	Het
Wdfy4	G	T	14: 33,146,990	S360R	probably damaging	Het

Other mutations in Zfp780b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Zfp780b	APN	7	27964761	missense	probably benign
IGL03088:Zfp780b	APN	7	27962992	missense	possibly damaging	0.84
IGL03211:Zfp780b	APN	7	27963175	missense	possibly damaging	0.93
R0403:Zfp780b	UTSW	7	27971689	missense	possibly damaging	0.47
R1458:Zfp780b	UTSW	7	27964827	missense	probably damaging	0.99
R1550:Zfp780b	UTSW	7	27964857	missense	probably benign
R1694:Zfp780b	UTSW	7	27964383	missense	possibly damaging	0.86
R1823:Zfp780b	UTSW	7	27963100	missense	possibly damaging	0.93
R2113:Zfp780b	UTSW	7	27963873	missense	possibly damaging	0.85
R3086:Zfp780b	UTSW	7	27963630	missense	probably damaging	0.96
R4620:Zfp780b	UTSW	7	27962753	nonsense	probably null
R5023:Zfp780b	UTSW	7	27963448	missense	possibly damaging	0.88
R5521:Zfp780b	UTSW	7	27974748	splice site	probably null
R5582:Zfp780b	UTSW	7	27964827	missense	probably damaging	0.99
R5677:Zfp780b	UTSW	7	27962799	missense	probably benign	0.33
R5762:Zfp780b	UTSW	7	27964818	missense	probably benign
R5998:Zfp780b	UTSW	7	27964622	missense	probably benign	0.07
R6036:Zfp780b	UTSW	7	27963568	missense	probably damaging	0.99
R6050:Zfp780b	UTSW	7	27964302	missense	probably damaging	0.98
R6702:Zfp780b	UTSW	7	27971641	missense	possibly damaging	0.91
R6703:Zfp780b	UTSW	7	27971641	missense	possibly damaging	0.91
R7112:Zfp780b	UTSW	7	27963141	missense	probably damaging	0.98
R7311:Zfp780b	UTSW	7	27963163	missense	possibly damaging	0.92
R7469:Zfp780b	UTSW	7	27963957	missense	probably benign	0.02
R7561:Zfp780b	UTSW	7	27964612	missense	possibly damaging	0.92
R7847:Zfp780b	UTSW	7	27964418	missense	probably benign	0.00
R8412:Zfp780b	UTSW	7	27963126	missense	possibly damaging	0.64
R8824:Zfp780b	UTSW	7	27963468	missense	probably benign	0.45
R9219:Zfp780b	UTSW	7	27964381	missense	probably benign	0.24
R9248:Zfp780b	UTSW	7	27973718	critical splice donor site	probably null
X0024:Zfp780b	UTSW	7	27963250	missense	probably damaging	0.99
Z1186:Zfp780b	UTSW	7	27963825	missense	probably benign
Z1186:Zfp780b	UTSW	7	27964543	missense	possibly damaging	0.73
Z1186:Zfp780b	UTSW	7	27964657	missense	probably benign
Z1186:Zfp780b	UTSW	7	27974778	missense	probably benign	0.00

Predicted Primers

Posted On

2017-06-26