Mutagenetix > Incidental Mutations

Incidental Mutation 'R7523:Zfp811'

582803

Institutional Source

Beutler Lab

Gene Symbol

Zfp811

Ensembl Gene

ENSMUSG00000055202

Gene Name

zinc finger protein 811

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R7523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32795676-32809853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32797752 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 438 (I438N)

Ref Sequence

ENSEMBL: ENSMUSP00000144038 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080905
AA Change: I437N

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000079709
Gene: ENSMUSG00000055202
AA Change: I437N

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

probably benign
Transcript: ENSMUST00000200914
AA Change: I438N

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144038
Gene: ENSMUSG00000055202
AA Change: I438N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,662,480	H40Q	unknown	Het
4932414N04Rik	A	T	2: 68,739,329	Q463L	probably benign	Het
Ano4	C	A	10: 88,971,395	E775*	probably null	Het
Atp12a	T	C	14: 56,365,968	V10A	possibly damaging	Het
Camkmt	A	G	17: 85,391,628	I144M	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,183,923		probably null	Het
Dazl	G	A	17: 50,287,541	T162I	probably damaging	Het
Dnah10	A	G	5: 124,747,739	K653R	probably damaging	Het
Exosc10	A	T	4: 148,563,842		probably null	Het
Fam96b	G	A	8: 104,641,772		probably benign	Het
Fbn2	T	C	18: 58,066,080	D1372G	probably benign	Het
Fxr1	T	C	3: 34,039,543	V23A	probably benign	Het
Gmps	T	C	3: 64,011,666	I557T	possibly damaging	Het
Ifnab	A	T	4: 88,690,792	Y146N	probably damaging	Het
Krt78	T	C	15: 101,946,601	Y925C	not run	Het
Lrp1b	C	T	2: 41,511,461	V394M		Het
Ltbp2	T	C	12: 84,791,034	T1211A	probably benign	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mdn1	A	T	4: 32,667,270		probably null	Het
Myo15b	A	T	11: 115,890,858	I2798F	unknown	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Nectin2	A	G	7: 19,730,112	V314A	probably benign	Het
Nexn	T	C	3: 152,247,178	R316G	probably benign	Het
Nfx1	A	G	4: 41,016,119	I894V	probably benign	Het
Olfr1045	T	C	2: 86,198,045	K236E	probably damaging	Het
Olfr15	T	C	16: 3,839,699	V242A	probably benign	Het
Pdcd4	G	T	19: 53,910,948	V123F	probably damaging	Het
Pik3c3	C	T	18: 30,293,655	R275W	probably damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Ptbp3	A	G	4: 59,546,159	V11A	probably benign	Het
Ptpn22	A	G	3: 103,912,015	N795S	probably damaging	Het
Ptprg	T	G	14: 12,237,130	I1383S	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Sf3b3	A	G	8: 110,813,720	I1023T	probably benign	Het
Slc44a2	A	G	9: 21,345,992	E411G	probably null	Het
Stard9	T	C	2: 120,699,597	Y2112H	probably benign	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tenm2	A	T	11: 36,078,581		probably null	Het
Tle1	A	T	4: 72,145,418	S199R	possibly damaging	Het
Tubgcp2	A	G	7: 140,006,870	I399T	probably benign	Het
Ubr5	T	C	15: 38,004,055	N1344S		Het
Vmn2r114	A	G	17: 23,310,637	F164L	probably benign	Het
Vps13a	G	T	19: 16,703,789	T1041K	probably benign	Het
Zbtb20	T	C	16: 43,610,512	V389A	probably benign	Het
Zfp90	A	G	8: 106,423,913	D86G	probably benign	Het

Other mutations in Zfp811

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Zfp811	APN	17	32797820	missense	probably damaging	1.00
IGL02227:Zfp811	APN	17	32798642	nonsense	probably null
IGL02529:Zfp811	APN	17	32797815	missense	probably damaging	1.00
IGL03190:Zfp811	APN	17	32798881	splice site	probably benign
R0112:Zfp811	UTSW	17	32797764	missense	probably damaging	0.96
R1025:Zfp811	UTSW	17	32798644	missense	probably benign	0.00
R1522:Zfp811	UTSW	17	32797648	missense	probably damaging	1.00
R1829:Zfp811	UTSW	17	32798142	missense	possibly damaging	0.72
R1861:Zfp811	UTSW	17	32797425	missense	probably damaging	1.00
R2181:Zfp811	UTSW	17	32797721	missense	probably damaging	0.96
R4360:Zfp811	UTSW	17	32798458	missense	probably benign	0.01
R4425:Zfp811	UTSW	17	32797547	nonsense	probably null
R4657:Zfp811	UTSW	17	32800923	nonsense	probably null
R6066:Zfp811	UTSW	17	32798827	missense	possibly damaging	0.73
R6109:Zfp811	UTSW	17	32797374	unclassified	probably null
R6702:Zfp811	UTSW	17	32797842	missense	probably damaging	1.00
R6714:Zfp811	UTSW	17	32797762	missense	probably damaging	1.00
R6826:Zfp811	UTSW	17	32797788	missense	probably damaging	1.00
R6983:Zfp811	UTSW	17	32797432	nonsense	probably null
R7276:Zfp811	UTSW	17	32798781	missense	probably benign	0.00
R7343:Zfp811	UTSW	17	32797513	missense	probably damaging	0.98
R7432:Zfp811	UTSW	17	32798759	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- ATTCATGGGGTTTCTCTCCG -3'
(R):5'- AAGCATAAAATAGTTCACAGCGGTG -3'

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

Posted On

2019-10-17