Mutagenetix > Incidental Mutation

Incidental Mutation 'R1332:Zfp334'

156731

Institutional Source

Beutler Lab

Gene Symbol

Zfp334

Ensembl Gene

ENSMUSG00000017667

Gene Name

zinc finger protein 334

Synonyms

D2Ertd535e

MMRRC Submission

039397-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165216184-165230179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165222776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 422 (H422Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103084]

AlphaFold

A2A4U6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103084
AA Change: H422Q

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

SMART Domains

Protein: ENSMUSP00000099373
Gene: ENSMUSG00000017667
AA Change: H422Q

Domain	Start	End	E-Value	Type
KRAB	8	68	5.91e-35	SMART
ZnF_C2H2	236	258	5.42e-2	SMART
ZnF_C2H2	264	286	1.2e-3	SMART
ZnF_C2H2	292	314	6.99e-5	SMART
ZnF_C2H2	320	342	1.22e-4	SMART
ZnF_C2H2	348	370	3.39e-3	SMART
ZnF_C2H2	376	398	7.15e-2	SMART
ZnF_C2H2	404	426	1.69e-3	SMART
ZnF_C2H2	432	454	1.92e-2	SMART
ZnF_C2H2	460	482	3.16e-3	SMART
ZnF_C2H2	543	565	1.82e-3	SMART
ZnF_C2H2	571	593	3.69e-4	SMART
ZnF_C2H2	599	621	1.58e-3	SMART
ZnF_C2H2	627	649	1.38e-3	SMART
ZnF_C2H2	655	677	3.89e-3	SMART

Meta Mutation Damage Score

0.6968

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 93.0%

Validation Efficiency

100% (35/35)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C2H2 zinc finger family. The encoded protein contains a Krueppel-associated box, fourteen C2H2 zinc finger domains, and four C2H2-type/integrase DNA-binding domains. Decreased expression of this gene may be a marker for rheumatoid arthritis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	T	TNNNNNNNNNNNNNNNNNN	11: 43,478,256 (GRCm39)		probably benign	Het
Abhd14b	A	T	9: 106,329,195 (GRCm39)	I42F	probably damaging	Het
Apbb1	A	T	7: 105,214,750 (GRCm39)	I498N	possibly damaging	Het
Asah2	A	G	19: 32,022,341 (GRCm39)	I231T	probably damaging	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Caskin2	C	T	11: 115,694,171 (GRCm39)		probably benign	Het
Ccdc141	T	C	2: 76,844,784 (GRCm39)	T1428A	probably damaging	Het
Cd22	A	C	7: 30,569,912 (GRCm39)	W477G	possibly damaging	Het
Cox16	T	C	12: 81,519,064 (GRCm39)	D89G	probably damaging	Het
Dnah17	A	G	11: 117,934,041 (GRCm39)	I3511T	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,901 (GRCm39)	Y333N	probably damaging	Het
Eya2	T	C	2: 165,529,528 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,855,167 (GRCm39)	D1892G	probably benign	Het
Hlf	G	T	11: 90,231,679 (GRCm39)	S265*	probably null	Het
Immt	T	C	6: 71,823,256 (GRCm39)		probably benign	Het
Lair1	T	C	7: 4,013,595 (GRCm39)	E36G	possibly damaging	Het
Lrfn5	T	C	12: 61,904,314 (GRCm39)		probably benign	Het
Nos1ap	T	C	1: 170,177,001 (GRCm39)	N134S	probably damaging	Het
Ogfod1	T	C	8: 94,784,727 (GRCm39)	C344R	probably damaging	Het
Or6c212	A	G	10: 129,559,116 (GRCm39)	L99S	probably damaging	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Pmfbp1	T	G	8: 110,256,898 (GRCm39)	I534S	probably damaging	Het
Prex2	A	G	1: 11,274,315 (GRCm39)	D1329G	probably damaging	Het
Rasal2	T	C	1: 157,003,391 (GRCm39)	T423A	probably benign	Het
Rif1	T	A	2: 51,968,326 (GRCm39)	W170R	probably benign	Het
Scarb2	C	T	5: 92,599,205 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Tlr3	A	C	8: 45,851,774 (GRCm39)	N374K	probably damaging	Het
Uck1	T	C	2: 32,149,666 (GRCm39)	D71G	probably damaging	Het
Vcan	C	T	13: 89,841,174 (GRCm39)	E497K	probably damaging	Het
Vmn2r86	G	A	10: 130,282,739 (GRCm39)	L626F	probably damaging	Het
Vmn2r89	A	G	14: 51,692,559 (GRCm39)	T121A	probably benign	Het
Wdr64	T	C	1: 175,622,706 (GRCm39)	S828P	possibly damaging	Het

Other mutations in Zfp334

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Zfp334	APN	2	165,223,643 (GRCm39)	nonsense	probably null
IGL02185:Zfp334	APN	2	165,228,869 (GRCm39)	utr 5 prime	probably benign
IGL02415:Zfp334	APN	2	165,223,771 (GRCm39)	missense	possibly damaging	0.70
IGL02693:Zfp334	APN	2	165,222,433 (GRCm39)	missense	possibly damaging	0.80
ANU23:Zfp334	UTSW	2	165,223,017 (GRCm39)	missense	probably damaging	1.00
R0040:Zfp334	UTSW	2	165,223,492 (GRCm39)	missense	probably benign	0.45
R1579:Zfp334	UTSW	2	165,223,719 (GRCm39)	missense	probably damaging	0.98
R2429:Zfp334	UTSW	2	165,222,432 (GRCm39)	missense	probably damaging	1.00
R5556:Zfp334	UTSW	2	165,222,504 (GRCm39)	missense	probably benign
R5579:Zfp334	UTSW	2	165,222,407 (GRCm39)	nonsense	probably null
R6891:Zfp334	UTSW	2	165,224,644 (GRCm39)	missense	probably benign
R6918:Zfp334	UTSW	2	165,223,799 (GRCm39)	missense	possibly damaging	0.46
R8360:Zfp334	UTSW	2	165,225,278 (GRCm39)	missense	probably benign	0.00
R8998:Zfp334	UTSW	2	165,223,408 (GRCm39)	missense	possibly damaging	0.80
R9481:Zfp334	UTSW	2	165,222,271 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCAGGTAGAAAAGCTTCCCACACTC -3'
(R):5'- TCCGAGCATCGTGAAGGTGAACAG -3'

Sequencing Primer
(F):5'- ACTCGGGACACTCGAAGG -3'
(R):5'- gcaaggagtgtggcaaag -3'

Posted On

2014-02-11