Mutagenetix > Incidental Mutation

Incidental Mutation 'R1608:Zfp810'

176630

Institutional Source

Beutler Lab

Gene Symbol

Zfp810

Ensembl Gene

ENSMUSG00000066829

Gene Name

zinc finger protein 810

Synonyms

MMRRC Submission

039645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R1608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22276748-22307648 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22278920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 231 (I231V)

Ref Sequence

ENSEMBL: ENSMUSP00000083459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086278] [ENSMUST00000215202]

AlphaFold

Q99K45

Predicted Effect

probably benign
Transcript: ENSMUST00000086278
AA Change: I231V

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

SMART Domains

Protein: ENSMUSP00000083459
Gene: ENSMUSG00000066829
AA Change: I231V

Domain	Start	End	E-Value	Type
KRAB	4	64	1.09e-33	SMART
ZnF_C2H2	126	148	2.44e2	SMART
ZnF_C2H2	182	204	3.07e-1	SMART
ZnF_C2H2	210	232	8.47e-4	SMART
ZnF_C2H2	238	260	6.78e-3	SMART
ZnF_C2H2	266	288	6.13e-1	SMART
ZnF_C2H2	294	316	5.06e-2	SMART
ZnF_C2H2	322	344	4.79e-3	SMART
ZnF_C2H2	350	372	2.99e-4	SMART
ZnF_C2H2	378	400	1.33e-1	SMART
ZnF_C2H2	406	428	2.75e-3	SMART
ZnF_C2H2	434	456	1.58e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214499

Predicted Effect

probably benign
Transcript: ENSMUST00000215202

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,902,479	S797P	probably damaging	Het
Akap9	T	C	5: 3,961,783	Y829H	probably damaging	Het
Anp32a	A	G	9: 62,372,093	D74G	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,571	E29G	probably damaging	Het
B3gat1	T	C	9: 26,751,816	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 122,647,709	V99D	probably damaging	Het
Celsr2	C	T	3: 108,402,483	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,859,066	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,852,434	M3L	probably benign	Het
Dnah12	C	T	14: 26,766,190	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,599,167	D86V	probably damaging	Het
Evx2	T	G	2: 74,657,851	K208N	probably damaging	Het
F13a1	A	G	13: 36,868,811	V718A	probably damaging	Het
Fcho2	T	C	13: 98,726,198	D757G	probably benign	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Fryl	C	T	5: 73,074,751	W424*	probably null	Het
Gata3	G	T	2: 9,874,768	Y97*	probably null	Het
Gm15446	T	A	5: 109,942,457	C192S	probably damaging	Het
Hdac10	A	T	15: 89,125,318	D470E	probably benign	Het
Ier2	A	G	8: 84,662,426	L109P	probably benign	Het
Kcnh2	T	C	5: 24,322,219	T559A	probably benign	Het
Khk	C	T	5: 30,930,594	A204V	probably damaging	Het
Kndc1	T	A	7: 139,927,408	M1169K	possibly damaging	Het
Krtap31-1	A	G	11: 99,908,093	S41G	probably benign	Het
Nabp1	T	C	1: 51,473,003		probably null	Het
Nphp3	A	G	9: 104,035,840	D939G	probably benign	Het
Olfr513	A	T	7: 108,755,102	N82I	probably damaging	Het
Plcg2	T	C	8: 117,614,235	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,262,575	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,669,129	D168G	probably benign	Het
Shisa8	G	A	15: 82,208,555	P189L	probably damaging	Het
Shkbp1	A	G	7: 27,354,779	V89A	probably benign	Het
Slc40a1	C	T	1: 45,911,297	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,497,847	Y373*	probably null	Het
Slf2	T	C	19: 44,949,001	V722A	probably benign	Het
Spanxn4	A	G	12: 62,687,838		noncoding transcript	Het
Stag3	T	A	5: 138,298,639		probably null	Het
Tanc1	T	C	2: 59,797,694	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,685,781	M286L	probably benign	Het
Top1	T	A	2: 160,703,595	N294K	probably benign	Het
Tpr	T	G	1: 150,426,893	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,326,432	S126A	probably benign	Het
Ttc41	A	G	10: 86,775,993	Y1075C	probably damaging	Het
Ubox5	C	T	2: 130,597,456	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,446,980	V57A	possibly damaging	Het
Zbtb5	T	C	4: 44,993,500	H628R	probably damaging	Het

Other mutations in Zfp810

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Zfp810	APN	9	22278309	nonsense	probably null
IGL03079:Zfp810	APN	9	22284127	missense	probably damaging	1.00
IGL03402:Zfp810	APN	9	22279145	splice site	probably null
H8562:Zfp810	UTSW	9	22279091	missense	probably benign	0.42
R1116:Zfp810	UTSW	9	22279085	missense	probably benign	0.11
R1160:Zfp810	UTSW	9	22278532	missense	possibly damaging	0.64
R1171:Zfp810	UTSW	9	22278826	missense	possibly damaging	0.95
R1393:Zfp810	UTSW	9	22280514	missense	probably benign
R1644:Zfp810	UTSW	9	22279028	missense	possibly damaging	0.67
R1766:Zfp810	UTSW	9	22278532	missense	possibly damaging	0.64
R2568:Zfp810	UTSW	9	22279238	missense	probably benign	0.01
R3684:Zfp810	UTSW	9	22278235	missense	probably benign	0.01
R4002:Zfp810	UTSW	9	22278892	missense	probably damaging	1.00
R4134:Zfp810	UTSW	9	22279073	missense	probably damaging	0.97
R4135:Zfp810	UTSW	9	22279073	missense	probably damaging	0.97
R4334:Zfp810	UTSW	9	22278784	missense	probably benign	0.00
R4545:Zfp810	UTSW	9	22278745	missense	probably damaging	0.96
R5399:Zfp810	UTSW	9	22278829	missense	possibly damaging	0.91
R5622:Zfp810	UTSW	9	22279096	missense	probably benign	0.00
R5643:Zfp810	UTSW	9	22283171	missense	probably benign	0.26
R7375:Zfp810	UTSW	9	22290537	critical splice donor site	probably null
R7441:Zfp810	UTSW	9	22279272	nonsense	probably null
R7809:Zfp810	UTSW	9	22278982	missense	possibly damaging	0.51
R8422:Zfp810	UTSW	9	22283222	nonsense	probably null
R8526:Zfp810	UTSW	9	22278290	missense	probably damaging	1.00
R8719:Zfp810	UTSW	9	22279275	missense	probably benign	0.00
R9177:Zfp810	UTSW	9	22278640	missense	probably damaging	1.00
R9479:Zfp810	UTSW	9	22283201	missense	possibly damaging	0.68
R9521:Zfp810	UTSW	9	22278931	missense	possibly damaging	0.81
R9683:Zfp810	UTSW	9	22278503	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ACATGGAGATGAGCTAGAGACCTTTCTT -3'
(R):5'- GAAGCCACAGTATAGCACAAAGCAGA -3'

Sequencing Primer
(F):5'- gctttcctgcactctttacattc -3'
(R):5'- CCTCAGTCAGTATCAGAGGCTTG -3'

Posted On

2014-04-24