Mutagenetix > Incidental Mutation

Incidental Mutation 'R1116:Zfp810'

97289

Institutional Source

Beutler Lab

Gene Symbol

Zfp810

Ensembl Gene

ENSMUSG00000066829

Gene Name

zinc finger protein 810

Synonyms

MMRRC Submission

039189-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R1116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22188044-22218944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22190381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 176 (E176K)

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: E176K

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000083459
Gene: ENSMUSG00000066829
AA Change: E176K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,506,792 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,349,017 (GRCm39)	P1028S	probably damaging	Het
Acad10	A	G	5: 121,768,814 (GRCm39)	F717S	probably damaging	Het
Adgrg6	A	T	10: 14,314,172 (GRCm39)	Y705N	probably benign	Het
Adm	A	G	7: 110,227,501 (GRCm39)	I6V	probably benign	Het
Agps	T	G	2: 75,692,269 (GRCm39)		probably benign	Het
Atr	C	T	9: 95,749,689 (GRCm39)	Q501*	probably null	Het
Cacna2d3	A	G	14: 28,786,278 (GRCm39)		probably benign	Het
Ccnt1	G	A	15: 98,442,219 (GRCm39)	R350W	probably damaging	Het
Cfap74	G	A	4: 155,518,453 (GRCm39)	E564K	probably benign	Het
Clip1	T	C	5: 123,717,554 (GRCm39)	E1250G	probably damaging	Het
Cryz	A	C	3: 154,327,240 (GRCm39)		probably benign	Het
Dnah1	C	A	14: 31,029,824 (GRCm39)	V494F	probably benign	Het
Dpep3	G	T	8: 106,705,461 (GRCm39)	D96E	probably damaging	Het
Dyrk3	G	A	1: 131,056,919 (GRCm39)	A418V	probably damaging	Het
Ehf	T	A	2: 103,097,354 (GRCm39)	N231I	probably damaging	Het
Eif4g3	T	C	4: 137,819,086 (GRCm39)		probably null	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam178b	A	T	1: 36,617,669 (GRCm39)	C82*	probably null	Het
Gm1647	C	T	3: 69,064,205 (GRCm39)	Q31*	probably null	Het
Got1	T	A	19: 43,491,413 (GRCm39)	K346*	probably null	Het
Grid2ip	G	A	5: 143,368,669 (GRCm39)	G656D	possibly damaging	Het
Grm2	A	G	9: 106,525,126 (GRCm39)	Y530H	probably damaging	Het
Hyou1	T	C	9: 44,295,978 (GRCm39)	I381T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Marchf11	T	C	15: 26,409,381 (GRCm39)	L360P	probably damaging	Het
Mettl17	T	C	14: 52,127,055 (GRCm39)	V281A	probably benign	Het
Micu2	A	T	14: 58,191,657 (GRCm39)	D131E	probably benign	Het
Mug1	G	C	6: 121,847,604 (GRCm39)	V661L	probably benign	Het
Myo18b	A	T	5: 112,951,145 (GRCm39)	D1488E	probably damaging	Het
Nkg7	G	A	7: 43,086,878 (GRCm39)	V51I	probably benign	Het
Nlgn1	A	C	3: 25,488,038 (GRCm39)	S766A	probably benign	Het
Or4d2b	T	A	11: 87,780,234 (GRCm39)	M163L	probably benign	Het
Otog	T	C	7: 45,950,025 (GRCm39)		probably benign	Het
Pax2	T	C	19: 44,745,863 (GRCm39)	S11P	probably damaging	Het
Pck2	A	G	14: 55,782,823 (GRCm39)	D392G	probably benign	Het
Plxnd1	A	T	6: 115,943,966 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,600,943 (GRCm39)	D2868G	probably benign	Het
Prl3d2	T	C	13: 27,309,985 (GRCm39)	L149P	probably damaging	Het
Purg	A	T	8: 33,876,773 (GRCm39)	H137L	probably benign	Het
Slc38a8	A	T	8: 120,222,872 (GRCm39)	L150Q	probably damaging	Het
Tifab	T	A	13: 56,324,025 (GRCm39)	R139S	possibly damaging	Het
Txndc16	T	C	14: 45,400,442 (GRCm39)	H353R	probably benign	Het
Ulbp3	A	T	10: 3,070,180 (GRCm39)		noncoding transcript	Het
Upk2	A	G	9: 44,365,086 (GRCm39)		probably null	Het
Zdhhc25	G	A	15: 88,484,823 (GRCm39)	V53I	probably benign	Het
Zfp738	T	A	13: 67,818,362 (GRCm39)		probably null	Het
Zfp846	T	A	9: 20,504,559 (GRCm39)	W140R	possibly damaging	Het

Other mutations in Zfp810

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Zfp810	APN	9	22,189,605 (GRCm39)	nonsense	probably null
IGL03079:Zfp810	APN	9	22,195,423 (GRCm39)	missense	probably damaging	1.00
IGL03402:Zfp810	APN	9	22,190,441 (GRCm39)	splice site	probably null
H8562:Zfp810	UTSW	9	22,190,387 (GRCm39)	missense	probably benign	0.42
R1160:Zfp810	UTSW	9	22,189,828 (GRCm39)	missense	possibly damaging	0.64
R1171:Zfp810	UTSW	9	22,190,122 (GRCm39)	missense	possibly damaging	0.95
R1393:Zfp810	UTSW	9	22,191,810 (GRCm39)	missense	probably benign
R1608:Zfp810	UTSW	9	22,190,216 (GRCm39)	missense	probably benign	0.00
R1644:Zfp810	UTSW	9	22,190,324 (GRCm39)	missense	possibly damaging	0.67
R1766:Zfp810	UTSW	9	22,189,828 (GRCm39)	missense	possibly damaging	0.64
R2568:Zfp810	UTSW	9	22,190,534 (GRCm39)	missense	probably benign	0.01
R3684:Zfp810	UTSW	9	22,189,531 (GRCm39)	missense	probably benign	0.01
R4002:Zfp810	UTSW	9	22,190,188 (GRCm39)	missense	probably damaging	1.00
R4134:Zfp810	UTSW	9	22,190,369 (GRCm39)	missense	probably damaging	0.97
R4135:Zfp810	UTSW	9	22,190,369 (GRCm39)	missense	probably damaging	0.97
R4334:Zfp810	UTSW	9	22,190,080 (GRCm39)	missense	probably benign	0.00
R4545:Zfp810	UTSW	9	22,190,041 (GRCm39)	missense	probably damaging	0.96
R5399:Zfp810	UTSW	9	22,190,125 (GRCm39)	missense	possibly damaging	0.91
R5622:Zfp810	UTSW	9	22,190,392 (GRCm39)	missense	probably benign	0.00
R5643:Zfp810	UTSW	9	22,194,467 (GRCm39)	missense	probably benign	0.26
R7375:Zfp810	UTSW	9	22,201,833 (GRCm39)	critical splice donor site	probably null
R7441:Zfp810	UTSW	9	22,190,568 (GRCm39)	nonsense	probably null
R7809:Zfp810	UTSW	9	22,190,278 (GRCm39)	missense	possibly damaging	0.51
R8422:Zfp810	UTSW	9	22,194,518 (GRCm39)	nonsense	probably null
R8526:Zfp810	UTSW	9	22,189,586 (GRCm39)	missense	probably damaging	1.00
R8719:Zfp810	UTSW	9	22,190,571 (GRCm39)	missense	probably benign	0.00
R9177:Zfp810	UTSW	9	22,189,936 (GRCm39)	missense	probably damaging	1.00
R9479:Zfp810	UTSW	9	22,194,497 (GRCm39)	missense	possibly damaging	0.68
R9521:Zfp810	UTSW	9	22,190,227 (GRCm39)	missense	possibly damaging	0.81
R9683:Zfp810	UTSW	9	22,189,799 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGAACGGACTTATTAAGTATTACCCTGCTcta -3'
(R):5'- ACCGAGGGGCCAAATCCTATGAA -3'

Sequencing Primer
(F):5'- gcttctcacctgtatgagtcc -3'
(R):5'- GCCAAATCCTATGAATGTGAAGTGTG -3'

Posted On

2014-01-05