Mutagenetix > Incidental Mutation

Incidental Mutation 'R8526:Zfp810'

658813

Institutional Source

Beutler Lab

Gene Symbol

Zfp810

Ensembl Gene

ENSMUSG00000066829

Gene Name

zinc finger protein 810

Synonyms

MMRRC Submission

067951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R8526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22276748-22307648 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22278290 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 441 (K441E)

Ref Sequence

ENSEMBL: ENSMUSP00000083459 (fasta)

Gene Model

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

AlphaFold

Q99K45

Predicted Effect

probably damaging
Transcript: ENSMUST00000086278
AA Change: K441E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083459
Gene: ENSMUSG00000066829
AA Change: K441E

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

probably benign
Transcript: ENSMUST00000215202

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,269,816	C706*	probably null	Het
4930522L14Rik	T	C	5: 109,737,789	I68V	possibly damaging	Het
4931422A03Rik	G	A	2: 104,026,154	R21C	unknown	Het
Actr5	T	G	2: 158,632,304	F342L	probably damaging	Het
Adamts13	T	C	2: 26,978,000	V124A	probably benign	Het
Amotl1	T	C	9: 14,562,196	E606G	probably damaging	Het
Carmil2	C	T	8: 105,688,815	A265V	probably damaging	Het
Cdh22	T	C	2: 165,112,258	E781G	probably damaging	Het
Dennd1b	G	A	1: 139,023,120	W33*	probably null	Het
Dlc1	C	T	8: 36,937,814	V274I	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Ect2l	C	T	10: 18,144,627	E582K	probably benign	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Ift88	A	T	14: 57,445,669	K40*	probably null	Het
Igkv4-72	A	G	6: 69,227,156	V17A	probably benign	Het
Klhl28	T	G	12: 64,951,626	T365P	probably damaging	Het
Krt16	T	A	11: 100,246,483	Y434F	probably benign	Het
Lyst	T	A	13: 13,760,806	V3620E	probably damaging	Het
Mcm9	A	T	10: 53,630,125		probably benign	Het
Mef2a	T	C	7: 67,251,725	M100V	possibly damaging	Het
Mos	T	C	4: 3,871,709	K36E	probably damaging	Het
Ncapg2	T	C	12: 116,440,059	Y864H	probably benign	Het
Olfr730	C	T	14: 50,186,262		probably null	Het
Olfr97	A	G	17: 37,231,579	S264P	probably damaging	Het
Parp14	A	T	16: 35,840,937	I1547N	possibly damaging	Het
Pcdh18	A	T	3: 49,755,574	Y431N	probably damaging	Het
Phyhd1	T	C	2: 30,266,943		probably null	Het
Pkd2	T	C	5: 104,489,236	F572L	probably damaging	Het
Rasgrf1	T	A	9: 89,974,848	I453N	probably damaging	Het
Robo4	T	A	9: 37,403,505	C218*	probably null	Het
Rrbp1	A	G	2: 143,974,483	V742A	probably benign	Het
Serpinb3a	A	T	1: 107,048,774		probably null	Het
Sgsm2	T	G	11: 74,869,021	E97A	probably benign	Het
Smad4	A	T	18: 73,657,259		probably null	Het
Snd1	T	C	6: 28,745,254	Y533H	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Stk36	A	G	1: 74,634,544	T1199A	probably benign	Het
Veph1	T	A	3: 66,159,316	N417I	probably benign	Het
Vmn1r8	A	G	6: 57,036,377	S138G	probably benign	Het
Vmn2r10	C	T	5: 108,997,706	V512I	possibly damaging	Het
Zfp740	A	G	15: 102,208,291	D47G	probably null	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
R1608:Zfp810	UTSW	9	22278920	missense	probably benign	0.00
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
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'- ACCTTTCTTACATCAATGGCTTCTTA -3'
(R):5'- GCAAGTCTCACCTCACTGT -3'

Sequencing Primer
(F):5'- GATGCTAGTTAAGAACGGAC -3'
(R):5'- TGCAGGAAAGCTTTCTACCG -3'

Posted On

2021-01-18