Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Zfp212'

512848

Institutional Source

Beutler Lab

Gene Symbol

Zfp212

Ensembl Gene

ENSMUSG00000052763

Gene Name

Zinc finger protein 212

Synonyms

Znf212

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47897502-47909573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47907831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 270 (V270A)

Ref Sequence

ENSEMBL: ENSMUSP00000009411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009411]

AlphaFold

G3X8R7

Predicted Effect

probably benign
Transcript: ENSMUST00000009411
AA Change: V270A

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000009411
Gene: ENSMUSG00000052763
AA Change: V270A

Domain	Start	End	E-Value	Type
low complexity region	10	28	N/A	INTRINSIC
Pfam:DUF3669	41	111	8.1e-10	PFAM
KRAB	141	202	6.08e-5	SMART
ZnF_C2H2	313	335	4.54e-4	SMART
ZnF_C2H2	366	388	6.57e-1	SMART
ZnF_C2H2	424	446	3.21e-4	SMART
ZnF_C2H2	452	474	4.54e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156500

Meta Mutation Damage Score

0.0712

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 14,055,605 (GRCm39)	R571*	probably null	Het
Asb18	A	T	1: 89,942,193 (GRCm39)	I36N	probably damaging	Het
Ascc3	G	A	10: 50,576,081 (GRCm39)	G779S	probably damaging	Het
Atl2	T	C	17: 80,161,984 (GRCm39)	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,220,315 (GRCm39)	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,531,765 (GRCm39)	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,735,848 (GRCm39)	N256S	probably benign	Het
Cchcr1	T	C	17: 35,839,073 (GRCm39)	I474T	probably damaging	Het
Cd209c	T	C	8: 3,994,984 (GRCm39)	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,848,381 (GRCm39)	D171Y	probably damaging	Het
Crb1	C	T	1: 139,165,200 (GRCm39)	V975M	probably damaging	Het
Csmd1	C	T	8: 17,585,020 (GRCm39)		probably benign	Het
Ctnna2	A	G	6: 76,957,678 (GRCm39)	S524P	possibly damaging	Het
Eno1	T	C	4: 150,324,025 (GRCm39)		probably null	Het
Ero1a	T	C	14: 45,537,415 (GRCm39)	I170M	probably damaging	Het
Fam186a	A	G	15: 99,845,212 (GRCm39)	M344T	unknown	Het
Frem1	A	T	4: 82,832,029 (GRCm39)		probably null	Het
Gjb5	G	T	4: 127,249,723 (GRCm39)	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hk2	G	T	6: 82,713,734 (GRCm39)	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,411,427 (GRCm39)	I322F	probably benign	Het
Itga1	T	C	13: 115,102,196 (GRCm39)	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,693 (GRCm39)	L1295S	probably damaging	Het
Macf1	T	C	4: 123,304,355 (GRCm39)	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,618,209 (GRCm39)	D96E	probably benign	Het
Megf10	A	T	18: 57,394,259 (GRCm39)	D461V	probably benign	Het
Myom1	T	C	17: 71,408,071 (GRCm39)	S1104P	probably damaging	Het
Nab1	A	G	1: 52,529,381 (GRCm39)	L172P	probably damaging	Het
Or2g1	T	G	17: 38,106,387 (GRCm39)	D17E	probably benign	Het
Pate1	A	G	9: 35,598,324 (GRCm39)	V18A	probably benign	Het
Pink1	T	C	4: 138,048,045 (GRCm39)		probably null	Het
Pnpla1	T	A	17: 29,097,455 (GRCm39)	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,889,840 (GRCm39)		probably null	Het
Rad52	A	G	6: 119,891,168 (GRCm39)	E76G	unknown	Het
Rad54l	A	G	4: 115,968,386 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,267,954 (GRCm39)	M17V	probably benign	Het
Rbm42	A	G	7: 30,340,738 (GRCm39)	M411T	unknown	Het
Reln	A	G	5: 22,256,359 (GRCm39)	I495T	probably benign	Het
Rnf224	A	G	2: 25,125,954 (GRCm39)	F133S	probably damaging	Het
Rrm1	C	A	7: 102,095,909 (GRCm39)	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,053,962 (GRCm39)	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,008,483 (GRCm39)	N127K	probably benign	Het
Skint7	A	T	4: 111,837,490 (GRCm39)	E89D	probably benign	Het
Slc22a5	T	G	11: 53,782,196 (GRCm39)	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,799,982 (GRCm39)	F263I	probably damaging	Het
Sncaip	A	G	18: 53,001,676 (GRCm39)	I66V	probably damaging	Het
Syngr1	A	C	15: 79,999,791 (GRCm39)		probably benign	Het
Tbc1d2	A	G	4: 46,614,420 (GRCm39)	Y554H	probably benign	Het
Tmem198	T	C	1: 75,456,387 (GRCm39)	V44A	probably benign	Het
Trappc11	T	C	8: 47,965,320 (GRCm39)		probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vmn2r111	C	T	17: 22,767,583 (GRCm39)	C638Y	probably damaging	Het
Washc4	A	G	10: 83,410,308 (GRCm39)	Y632C	probably damaging	Het
Zfp92	G	A	X: 72,465,574 (GRCm39)	R189H	possibly damaging	Homo

Other mutations in Zfp212

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Zfp212	APN	6	47,908,256 (GRCm39)	missense	probably damaging	0.98
IGL03357:Zfp212	APN	6	47,907,771 (GRCm39)	missense	probably benign	0.28
R0122:Zfp212	UTSW	6	47,907,957 (GRCm39)	missense	possibly damaging	0.87
R0219:Zfp212	UTSW	6	47,903,619 (GRCm39)	missense	probably damaging	1.00
R0278:Zfp212	UTSW	6	47,903,453 (GRCm39)	missense	probably damaging	1.00
R1845:Zfp212	UTSW	6	47,908,475 (GRCm39)	missense	probably benign
R4910:Zfp212	UTSW	6	47,908,433 (GRCm39)	missense	possibly damaging	0.94
R4991:Zfp212	UTSW	6	47,903,796 (GRCm39)	missense	probably damaging	1.00
R5297:Zfp212	UTSW	6	47,906,011 (GRCm39)	missense	probably benign
R6074:Zfp212	UTSW	6	47,903,986 (GRCm39)	nonsense	probably null
R7275:Zfp212	UTSW	6	47,897,678 (GRCm39)	missense	probably benign
R7873:Zfp212	UTSW	6	47,907,860 (GRCm39)	nonsense	probably null
R9240:Zfp212	UTSW	6	47,906,032 (GRCm39)	missense	probably benign	0.32
Z1176:Zfp212	UTSW	6	47,903,702 (GRCm39)	missense	probably benign	0.12
Z1177:Zfp212	UTSW	6	47,903,454 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGTCAAACAGGAGATGCTG -3'
(R):5'- GTTCTGTGGCAGAGTAAGACTCC -3'

Sequencing Primer
(F):5'- CTGTACAAGCAGGAAGGCCC -3'
(R):5'- GCGTGGCTCTGCAAATG -3'

Posted On

2018-04-27