Mutagenetix > Incidental Mutation

Incidental Mutation 'R7523:Zfp811'

582803

Institutional Source

Beutler Lab

Gene Symbol

Zfp811

Ensembl Gene

ENSMUSG00000055202

Gene Name

zinc finger protein 811

Synonyms

MMRRC Submission

045595-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33014650-33028905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33016726 bp (GRCm39)

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]

AlphaFold

A0A0J9YU71

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

100% (46/46)

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: 68,492,824 (GRCm39)	H40Q	unknown	Het
4932414N04Rik	A	T	2: 68,569,673 (GRCm39)	Q463L	probably benign	Het
Ano4	C	A	10: 88,807,257 (GRCm39)	E775*	probably null	Het
Atp12a	T	C	14: 56,603,425 (GRCm39)	V10A	possibly damaging	Het
Camkmt	A	G	17: 85,699,056 (GRCm39)	I144M	probably benign	Het
Ciao2b	G	A	8: 105,368,404 (GRCm39)		probably benign	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dazl	G	A	17: 50,594,569 (GRCm39)	T162I	probably damaging	Het
Dnah10	A	G	5: 124,824,803 (GRCm39)	K653R	probably damaging	Het
Exosc10	A	T	4: 148,648,299 (GRCm39)		probably null	Het
Fbn2	T	C	18: 58,199,152 (GRCm39)	D1372G	probably benign	Het
Fxr1	T	C	3: 34,093,692 (GRCm39)	V23A	probably benign	Het
Gmps	T	C	3: 63,919,087 (GRCm39)	I557T	possibly damaging	Het
Ifnab	A	T	4: 88,609,029 (GRCm39)	Y146N	probably damaging	Het
Krt78	T	C	15: 101,855,036 (GRCm39)	Y925C	not run	Het
Lrp1b	C	T	2: 41,401,473 (GRCm39)	V394M		Het
Ltbp2	T	C	12: 84,837,808 (GRCm39)	T1211A	probably benign	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mdn1	A	T	4: 32,667,270 (GRCm39)		probably null	Het
Myo15b	A	T	11: 115,781,684 (GRCm39)	I2798F	unknown	Het
Nat3	T	C	8: 68,000,226 (GRCm39)	I35T	probably damaging	Het
Nectin2	A	G	7: 19,464,037 (GRCm39)	V314A	probably benign	Het
Nexn	T	C	3: 151,952,815 (GRCm39)	R316G	probably benign	Het
Nfx1	A	G	4: 41,016,119 (GRCm39)	I894V	probably benign	Het
Or2c1	T	C	16: 3,657,563 (GRCm39)	V242A	probably benign	Het
Or8j3	T	C	2: 86,028,389 (GRCm39)	K236E	probably damaging	Het
Pdcd4	G	T	19: 53,899,379 (GRCm39)	V123F	probably damaging	Het
Pik3c3	C	T	18: 30,426,708 (GRCm39)	R275W	probably damaging	Het
Ppt2	A	G	17: 34,845,777 (GRCm39)		probably null	Het
Prss35	T	A	9: 86,637,427 (GRCm39)	C66S	probably damaging	Het
Ptbp3	A	G	4: 59,546,159 (GRCm39)	V11A	probably benign	Het
Ptpn22	A	G	3: 103,819,331 (GRCm39)	N795S	probably damaging	Het
Ptprg	T	G	14: 12,237,130 (GRCm38)	I1383S	probably damaging	Het
Rtel1	G	A	2: 180,964,108 (GRCm39)	V36M	probably damaging	Het
Sf3b3	A	G	8: 111,540,352 (GRCm39)	I1023T	probably benign	Het
Slc44a2	A	G	9: 21,257,288 (GRCm39)	E411G	probably null	Het
Stard9	T	C	2: 120,530,078 (GRCm39)	Y2112H	probably benign	Het
Tada2b	T	C	5: 36,634,111 (GRCm39)	I156V	probably benign	Het
Tenm2	A	T	11: 35,969,408 (GRCm39)		probably null	Het
Tle1	A	T	4: 72,063,655 (GRCm39)	S199R	possibly damaging	Het
Tubgcp2	A	G	7: 139,586,783 (GRCm39)	I399T	probably benign	Het
Ubr5	T	C	15: 38,004,299 (GRCm39)	N1344S		Het
Vmn2r114	A	G	17: 23,529,611 (GRCm39)	F164L	probably benign	Het
Vps13a	G	T	19: 16,681,153 (GRCm39)	T1041K	probably benign	Het
Zbtb20	T	C	16: 43,430,875 (GRCm39)	V389A	probably benign	Het
Zfp90	A	G	8: 107,150,545 (GRCm39)	D86G	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
R6714:Zfp811	UTSW	17	33,016,736 (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
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'- ATTCATGGGGTTTCTCTCCG -3'
(R):5'- AAGCATAAAATAGTTCACAGCGGTG -3'

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

Posted On

2019-10-17