Mutagenetix > Incidental Mutation

Incidental Mutation 'R6714:Zfp811'

529274

Institutional Source

Beutler Lab

Gene Symbol

Zfp811

Ensembl Gene

ENSMUSG00000055202

Gene Name

zinc finger protein 811

Synonyms

MMRRC Submission

044832-MU

Accession Numbers

Essential gene?

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

Stock #

R6714 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33014650-33028905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33016736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 434 (H434Y)

Ref Sequence

ENSEMBL: ENSMUSP00000079709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080905] [ENSMUST00000200914]

AlphaFold

A0A0J9YU71

Predicted Effect

probably damaging
Transcript: ENSMUST00000080905
AA Change: H434Y

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

SMART Domains

Protein: ENSMUSP00000079709
Gene: ENSMUSG00000055202
AA Change: H434Y

Domain	Start	End	E-Value	Type
KRAB	3	62	6.26e-16	SMART
ZnF_C2H2	192	215	1.25e-1	SMART
ZnF_C2H2	220	242	1.79e-2	SMART
ZnF_C2H2	248	270	9.08e-4	SMART
ZnF_C2H2	276	298	7.78e-3	SMART
ZnF_C2H2	304	326	3.69e-4	SMART
ZnF_C2H2	332	354	8.47e-4	SMART
ZnF_C2H2	360	382	1.45e-2	SMART
ZnF_C2H2	388	410	6.42e-4	SMART
ZnF_C2H2	416	438	5.9e-3	SMART
ZnF_C2H2	444	466	1.08e-1	SMART
ZnF_C2H2	472	494	2.75e-3	SMART
ZnF_C2H2	500	522	9.44e-2	SMART
ZnF_C2H2	528	551	3.89e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104150

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200914
AA Change: H435Y

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144038
Gene: ENSMUSG00000055202
AA Change: H435Y

Domain	Start	End	E-Value	Type
KRAB	4	63	2.6e-18	SMART
ZnF_C2H2	193	216	5.4e-4	SMART
ZnF_C2H2	221	243	7.8e-5	SMART
ZnF_C2H2	249	271	3.8e-6	SMART
ZnF_C2H2	277	299	3.3e-5	SMART
ZnF_C2H2	305	327	1.6e-6	SMART
ZnF_C2H2	333	355	3.8e-6	SMART
ZnF_C2H2	361	383	6.1e-5	SMART
ZnF_C2H2	389	411	2.7e-6	SMART
ZnF_C2H2	417	439	2.5e-5	SMART
ZnF_C2H2	445	467	4.6e-4	SMART
ZnF_C2H2	473	495	1.2e-5	SMART
ZnF_C2H2	501	523	4e-4	SMART
ZnF_C2H2	529	552	1.7e-5	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC061237	A	T	14: 44,741,639 (GRCm39)	R127S	possibly damaging	Het
Bub1	C	A	2: 127,656,652 (GRCm39)	M463I	probably benign	Het
Cdh23	T	C	10: 60,167,609 (GRCm39)	I1794V	possibly damaging	Het
Clspn	C	T	4: 126,459,561 (GRCm39)	T320M	probably damaging	Het
Coch	A	C	12: 51,649,520 (GRCm39)	D277A	probably damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Dnah7c	A	T	1: 46,779,966 (GRCm39)	I3223F	probably damaging	Het
E2f6	G	A	12: 16,869,003 (GRCm39)	V109I	probably damaging	Het
Edem2	A	T	2: 155,570,809 (GRCm39)		probably null	Het
Efcab8	A	G	2: 153,631,130 (GRCm39)	K187E	probably damaging	Het
Fam184a	T	C	10: 53,574,979 (GRCm39)	N210S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fsip2	A	G	2: 82,809,878 (GRCm39)	I2066V	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gpc5	C	T	14: 115,789,715 (GRCm39)	Q530*	probably null	Het
Hmcn1	A	T	1: 150,579,926 (GRCm39)	I1937K	probably damaging	Het
Hpx	G	A	7: 105,244,302 (GRCm39)	R269C	probably damaging	Het
Ice1	T	C	13: 70,763,382 (GRCm39)		probably null	Het
Kbtbd4	A	T	2: 90,736,183 (GRCm39)		probably benign	Het
Ldlrad3	T	C	2: 101,783,297 (GRCm39)	T310A	probably benign	Het
Lrp4	G	A	2: 91,306,710 (GRCm39)	S341N	possibly damaging	Het
Map3k3	T	C	11: 106,005,048 (GRCm39)	V69A	possibly damaging	Het
Myh8	T	C	11: 67,197,775 (GRCm39)	Y1881H	probably damaging	Het
Nectin4	A	T	1: 171,198,218 (GRCm39)		probably benign	Het
Nhsl1	G	T	10: 18,400,459 (GRCm39)	V562L	possibly damaging	Het
Or4k5	A	T	14: 50,385,671 (GRCm39)	I220K	possibly damaging	Het
Or6c205	T	A	10: 129,086,809 (GRCm39)	N135K	possibly damaging	Het
Pcdhga7	T	A	18: 37,850,330 (GRCm39)	V779E	probably benign	Het
Peg12	T	A	7: 62,113,317 (GRCm39)	H260L	unknown	Het
Qrfpr	A	T	3: 36,234,405 (GRCm39)	M312K	possibly damaging	Het
Rbl2	T	A	8: 91,833,415 (GRCm39)	I730N	possibly damaging	Het
Rbm39	G	C	2: 156,003,538 (GRCm39)	L281V	possibly damaging	Het
Setd1b	A	G	5: 123,295,654 (GRCm39)	E1074G	unknown	Het
Sfr1	A	G	19: 47,723,405 (GRCm39)	D303G	probably damaging	Het
Slc7a12	T	C	3: 14,546,380 (GRCm39)	V175A	probably benign	Het
Slc8a1	A	T	17: 81,715,678 (GRCm39)	L785Q	probably damaging	Het
Spdl1	T	A	11: 34,713,830 (GRCm39)		probably null	Het
Spg11	T	C	2: 121,926,212 (GRCm39)	I694M	probably damaging	Het
Tasor2	A	T	13: 3,644,189 (GRCm39)	F143L	probably benign	Het
Trpc1	A	T	9: 95,605,326 (GRCm39)	L111Q	probably damaging	Het
Tti1	A	G	2: 157,848,971 (GRCm39)	V756A	possibly damaging	Het
Unc93a2	T	G	17: 7,643,937 (GRCm39)	E124A	probably benign	Het
Usp32	A	T	11: 84,917,696 (GRCm39)	I777N	probably damaging	Het
Zbtb8b	C	T	4: 129,326,776 (GRCm39)	E97K	probably damaging	Het
Zfhx4	A	G	3: 5,306,897 (GRCm39)	D41G	probably damaging	Het
Zfp493	A	T	13: 67,934,499 (GRCm39)	S151C	probably benign	Het
Zfp503	T	C	14: 22,035,825 (GRCm39)	T364A	probably benign	Het
Zfp507	T	C	7: 35,487,152 (GRCm39)	K772R	probably damaging	Het
Zfp804b	T	A	5: 6,819,239 (GRCm39)	M1275L	probably benign	Het

Other mutations in Zfp811

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Zfp811	APN	17	33,016,794 (GRCm39)	missense	probably damaging	1.00
IGL02227:Zfp811	APN	17	33,017,616 (GRCm39)	nonsense	probably null
IGL02529:Zfp811	APN	17	33,016,789 (GRCm39)	missense	probably damaging	1.00
IGL03190:Zfp811	APN	17	33,017,855 (GRCm39)	splice site	probably benign
R0112:Zfp811	UTSW	17	33,016,738 (GRCm39)	missense	probably damaging	0.96
R1025:Zfp811	UTSW	17	33,017,618 (GRCm39)	missense	probably benign	0.00
R1522:Zfp811	UTSW	17	33,016,622 (GRCm39)	missense	probably damaging	1.00
R1829:Zfp811	UTSW	17	33,017,116 (GRCm39)	missense	possibly damaging	0.72
R1861:Zfp811	UTSW	17	33,016,399 (GRCm39)	missense	probably damaging	1.00
R2181:Zfp811	UTSW	17	33,016,695 (GRCm39)	missense	probably damaging	0.96
R4360:Zfp811	UTSW	17	33,017,432 (GRCm39)	missense	probably benign	0.01
R4425:Zfp811	UTSW	17	33,016,521 (GRCm39)	nonsense	probably null
R4657:Zfp811	UTSW	17	33,019,897 (GRCm39)	nonsense	probably null
R6066:Zfp811	UTSW	17	33,017,801 (GRCm39)	missense	possibly damaging	0.73
R6109:Zfp811	UTSW	17	33,016,348 (GRCm39)	splice site	probably null
R6702:Zfp811	UTSW	17	33,016,816 (GRCm39)	missense	probably damaging	1.00
R6826:Zfp811	UTSW	17	33,016,762 (GRCm39)	missense	probably damaging	1.00
R6983:Zfp811	UTSW	17	33,016,406 (GRCm39)	nonsense	probably null
R7276:Zfp811	UTSW	17	33,017,755 (GRCm39)	missense	probably benign	0.00
R7343:Zfp811	UTSW	17	33,016,487 (GRCm39)	missense	probably damaging	0.98
R7432:Zfp811	UTSW	17	33,017,733 (GRCm39)	missense	possibly damaging	0.73
R7523:Zfp811	UTSW	17	33,016,726 (GRCm39)	missense	probably benign	0.10
R7894:Zfp811	UTSW	17	33,017,821 (GRCm39)	missense	possibly damaging	0.85
R8737:Zfp811	UTSW	17	33,017,197 (GRCm39)	missense	possibly damaging	0.92
R8962:Zfp811	UTSW	17	33,017,622 (GRCm39)	missense	probably benign
R8987:Zfp811	UTSW	17	33,017,801 (GRCm39)	missense	possibly damaging	0.53
R9612:Zfp811	UTSW	17	33,017,740 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCATTTCTTACATTCATGGGGTTTC -3'
(R):5'- AGCATAAAATAGTTCACAGCGG -3'

Sequencing Primer
(F):5'- GACACAAGGCTTCTCTCCAGTG -3'
(R):5'- ACAGCGGTGTGAATCCCTTTG -3'

Posted On

2018-07-24