Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Zfp811'

528837

Institutional Source

Beutler Lab

Gene Symbol

Zfp811

Ensembl Gene

ENSMUSG00000055202

Gene Name

zinc finger protein 811

Synonyms

MMRRC Submission

044820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32795676-32809853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32797842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 407 (E407G)

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: E407G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079709
Gene: ENSMUSG00000055202
AA Change: E407G

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

probably damaging
Transcript: ENSMUST00000200914
AA Change: E408G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144038
Gene: ENSMUSG00000055202
AA Change: E408G

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: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659 (GRCm38)	Y66*	probably null	Het
Ak3	A	G	19: 29,026,227 (GRCm38)	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564 (GRCm38)	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097 (GRCm38)		probably null	Het
Brpf3	A	C	17: 28,810,659 (GRCm38)	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051 (GRCm38)	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086 (GRCm38)	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734 (GRCm38)	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439 (GRCm38)	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688 (GRCm38)	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503 (GRCm38)	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227 (GRCm38)	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294 (GRCm38)	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805 (GRCm38)	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687 (GRCm38)	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046 (GRCm38)	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526 (GRCm38)		probably null	Het
Iqub	T	A	6: 24,449,745 (GRCm38)	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287 (GRCm38)	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563 (GRCm38)	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068 (GRCm38)	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396 (GRCm38)	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406 (GRCm38)	C134S	possibly damaging	Het
Myo15a	A	G	11: 60,492,992 (GRCm38)	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502 (GRCm38)	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890 (GRCm38)	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478 (GRCm38)	T535A	possibly damaging	Het
Or4k15	A	G	14: 50,127,231 (GRCm38)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,490,109 (GRCm38)		probably null	Het
Or5ac23	C	T	16: 59,328,598 (GRCm38)	V304I	probably benign	Het
Or5d46	G	A	2: 88,340,242 (GRCm38)	V226I	probably benign	Het
Or8b51	A	T	9: 38,657,777 (GRCm38)	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775 (GRCm38)	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906 (GRCm38)	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm38)		probably benign	Het
Per2	C	T	1: 91,427,949 (GRCm38)	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051 (GRCm38)	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084 (GRCm38)	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396 (GRCm38)	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896 (GRCm38)	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448 (GRCm38)	D77G	probably damaging	Het
Resf1	T	A	6: 149,327,878 (GRCm38)	N807K	probably damaging	Het
Rgma	A	T	7: 73,417,320 (GRCm38)	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805 (GRCm38)	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439 (GRCm38)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189 (GRCm38)		probably null	Het
Sfrp5	G	T	19: 42,201,827 (GRCm38)	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100 (GRCm38)	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870 (GRCm38)	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201 (GRCm38)	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387 (GRCm38)	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800 (GRCm38)	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384 (GRCm38)	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349 (GRCm38)	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318 (GRCm38)		probably benign	Het
Ttn	T	G	2: 76,720,112 (GRCm38)	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm38)		probably benign	Het
Ubr3	A	T	2: 69,956,049 (GRCm38)	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299 (GRCm38)		probably null	Het
Ythdf1	A	G	2: 180,919,133 (GRCm38)		probably null	Het
Zfp780b	T	C	7: 27,971,641 (GRCm38)	T81A	possibly damaging	Het

Other mutations in Zfp811

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Zfp811	APN	17	32,797,820 (GRCm38)	missense	probably damaging	1.00
IGL02227:Zfp811	APN	17	32,798,642 (GRCm38)	nonsense	probably null
IGL02529:Zfp811	APN	17	32,797,815 (GRCm38)	missense	probably damaging	1.00
IGL03190:Zfp811	APN	17	32,798,881 (GRCm38)	splice site	probably benign
R0112:Zfp811	UTSW	17	32,797,764 (GRCm38)	missense	probably damaging	0.96
R1025:Zfp811	UTSW	17	32,798,644 (GRCm38)	missense	probably benign	0.00
R1522:Zfp811	UTSW	17	32,797,648 (GRCm38)	missense	probably damaging	1.00
R1829:Zfp811	UTSW	17	32,798,142 (GRCm38)	missense	possibly damaging	0.72
R1861:Zfp811	UTSW	17	32,797,425 (GRCm38)	missense	probably damaging	1.00
R2181:Zfp811	UTSW	17	32,797,721 (GRCm38)	missense	probably damaging	0.96
R4360:Zfp811	UTSW	17	32,798,458 (GRCm38)	missense	probably benign	0.01
R4425:Zfp811	UTSW	17	32,797,547 (GRCm38)	nonsense	probably null
R4657:Zfp811	UTSW	17	32,800,923 (GRCm38)	nonsense	probably null
R6066:Zfp811	UTSW	17	32,798,827 (GRCm38)	missense	possibly damaging	0.73
R6109:Zfp811	UTSW	17	32,797,374 (GRCm38)	splice site	probably null
R6714:Zfp811	UTSW	17	32,797,762 (GRCm38)	missense	probably damaging	1.00
R6826:Zfp811	UTSW	17	32,797,788 (GRCm38)	missense	probably damaging	1.00
R6983:Zfp811	UTSW	17	32,797,432 (GRCm38)	nonsense	probably null
R7276:Zfp811	UTSW	17	32,798,781 (GRCm38)	missense	probably benign	0.00
R7343:Zfp811	UTSW	17	32,797,513 (GRCm38)	missense	probably damaging	0.98
R7432:Zfp811	UTSW	17	32,798,759 (GRCm38)	missense	possibly damaging	0.73
R7523:Zfp811	UTSW	17	32,797,752 (GRCm38)	missense	probably benign	0.10
R7894:Zfp811	UTSW	17	32,798,847 (GRCm38)	missense	possibly damaging	0.85
R8737:Zfp811	UTSW	17	32,798,223 (GRCm38)	missense	possibly damaging	0.92
R8962:Zfp811	UTSW	17	32,798,648 (GRCm38)	missense	probably benign
R8987:Zfp811	UTSW	17	32,798,827 (GRCm38)	missense	possibly damaging	0.53
R9612:Zfp811	UTSW	17	32,798,766 (GRCm38)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- ATCTTCTCATGACTCCGAAGAG -3'
(R):5'- GGCATGAACAACATTACCATGC -3'

Sequencing Primer
(F):5'- GTAGTAGAGCAGAGAAACCCCTTTC -3'
(R):5'- CAGTGTGGGAAAGCCTTCATTACC -3'

Posted On

2018-07-24