Mutagenetix > Incidental Mutation

Incidental Mutation 'R7298:Zfp346'

566813

Institutional Source

Beutler Lab

Gene Symbol

Zfp346

Ensembl Gene

ENSMUSG00000021481

Gene Name

zinc finger protein 346

Synonyms

MMRRC Submission

045402-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R7298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55253124-55282638 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55278416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 258 (V258G)

Ref Sequence

ENSEMBL: ENSMUSP00000021937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021937] [ENSMUST00000159147] [ENSMUST00000159278] [ENSMUST00000160660] [ENSMUST00000161315] [ENSMUST00000161551] [ENSMUST00000162428] [ENSMUST00000162476] [ENSMUST00000164344]

AlphaFold

Q9R0B7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021937
AA Change: V258G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021937
Gene: ENSMUSG00000021481
AA Change: V258G

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
ZnF_U1	70	104	1.26e-5	SMART
ZnF_C2H2	73	97	2.61e1	SMART
ZnF_U1	131	165	5.22e-7	SMART
ZnF_C2H2	134	158	4.98e-1	SMART
ZnF_U1	182	216	1.87e-8	SMART
ZnF_C2H2	185	209	1.51e1	SMART
ZnF_U1	236	270	1.99e-3	SMART
ZnF_C2H2	239	263	3.47e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159147
AA Change: V226G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124107
Gene: ENSMUSG00000021481
AA Change: V226G

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
Pfam:zf-met	73	96	3.3e-5	PFAM
ZnF_U1	99	133	5.22e-7	SMART
ZnF_C2H2	102	126	4.98e-1	SMART
ZnF_U1	150	184	1.87e-8	SMART
ZnF_C2H2	153	177	1.51e1	SMART
ZnF_U1	204	238	1.99e-3	SMART
ZnF_C2H2	207	231	3.47e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159278
AA Change: V273G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125078
Gene: ENSMUSG00000021481
AA Change: V273G

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
ZnF_U1	70	104	1.26e-5	SMART
ZnF_C2H2	73	97	2.61e1	SMART
ZnF_U1	131	165	5.22e-7	SMART
ZnF_C2H2	134	158	4.98e-1	SMART
ZnF_U1	198	232	1.87e-8	SMART
ZnF_C2H2	201	225	1.51e1	SMART
ZnF_U1	251	285	1.99e-3	SMART
ZnF_C2H2	254	278	3.47e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160660

SMART Domains

Protein: ENSMUSP00000124034
Gene: ENSMUSG00000021481

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
ZnF_U1	70	104	1.26e-5	SMART
ZnF_C2H2	73	97	2.61e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161077

SMART Domains

Protein: ENSMUSP00000125204
Gene: ENSMUSG00000021481

Domain	Start	End	E-Value	Type
ZnF_U1	52	86	1.26e-5	SMART
ZnF_C2H2	55	79	2.61e1	SMART
ZnF_U1	113	147	5.22e-7	SMART
ZnF_C2H2	116	140	4.98e-1	SMART
ZnF_U1	180	214	1.87e-8	SMART
ZnF_C2H2	183	207	1.51e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161315

SMART Domains

Protein: ENSMUSP00000124397
Gene: ENSMUSG00000021481

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
ZnF_U1	70	104	1.26e-5	SMART
ZnF_C2H2	73	97	2.61e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161551

SMART Domains

Protein: ENSMUSP00000124180
Gene: ENSMUSG00000021481

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
PDB:1ZU1\|A	53	93	4e-12	PDB
Blast:ZnF_U1	70	94	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162428

SMART Domains

Protein: ENSMUSP00000125389
Gene: ENSMUSG00000021481

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
ZnF_U1	70	104	1.26e-5	SMART
ZnF_C2H2	73	97	2.61e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162476

SMART Domains

Protein: ENSMUSP00000125743
Gene: ENSMUSG00000021481

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
ZnF_U1	70	104	1.26e-5	SMART
ZnF_C2H2	73	97	2.61e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164344

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (52/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,807,106 (GRCm39)	T51S	probably benign	Het
Abcc1	A	G	16: 14,214,336 (GRCm39)	D204G	possibly damaging	Het
Acaa1b	C	T	9: 118,980,915 (GRCm39)	E172K	probably benign	Het
Adamts5	G	A	16: 85,696,806 (GRCm39)	T117I	probably benign	Het
Agmat	A	G	4: 141,474,275 (GRCm39)	E52G	possibly damaging	Het
Alg9	C	T	9: 50,690,361 (GRCm39)	A121V	probably damaging	Het
Atf7ip2	T	C	16: 10,027,032 (GRCm39)	I100T	possibly damaging	Het
Calm2	T	C	17: 87,750,165 (GRCm39)		probably null	Het
Cfap44	A	T	16: 44,301,775 (GRCm39)	M1838L	probably benign	Het
Cym	A	G	3: 107,127,009 (GRCm39)	Y49H	probably benign	Het
Dchs1	G	A	7: 105,404,338 (GRCm39)	R2735*	probably null	Het
Dnajc6	T	C	4: 101,463,808 (GRCm39)	I187T	probably benign	Het
Fam151a	G	T	4: 106,592,725 (GRCm39)	R69L	possibly damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Gm9922	C	A	14: 101,966,961 (GRCm39)	G97V	unknown	Het
Hacl1	A	T	14: 31,338,443 (GRCm39)	M378K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-82	A	T	12: 115,916,574 (GRCm39)	I6N	possibly damaging	Het
Kctd19	A	C	8: 106,109,616 (GRCm39)	V942G	probably benign	Het
Lce1l	C	T	3: 92,757,483 (GRCm39)	C125Y	unknown	Het
Mmp8	T	C	9: 7,560,449 (GRCm39)	F42S	probably damaging	Het
Myom2	T	C	8: 15,148,411 (GRCm39)	L529P	probably damaging	Het
Nectin3	A	T	16: 46,268,759 (GRCm39)	Y548N	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or4c12b	T	C	2: 89,646,865 (GRCm39)	F59S	probably damaging	Het
Or6aa1	T	A	7: 86,044,131 (GRCm39)	T192S	probably damaging	Het
Otof	T	A	5: 30,545,614 (GRCm39)	I514F	probably damaging	Het
Pira12	T	A	7: 3,898,264 (GRCm39)	I353F	possibly damaging	Het
Plch1	G	T	3: 63,623,458 (GRCm39)	S603*	probably null	Het
Ppa1	T	A	10: 61,502,691 (GRCm39)	D171E	probably benign	Het
Pramel23	C	A	4: 143,425,075 (GRCm39)	D123Y	probably benign	Het
Prss34	T	C	17: 25,518,737 (GRCm39)	C240R	probably damaging	Het
Ptpre	A	G	7: 135,285,016 (GRCm39)	D714G	probably damaging	Het
Ranbp9	A	G	13: 43,633,936 (GRCm39)	F157L	probably benign	Het
Rbbp6	A	G	7: 122,600,417 (GRCm39)	K1475E	unknown	Het
Retnlg	A	G	16: 48,693,237 (GRCm39)	N5D	probably benign	Het
Rev1	T	C	1: 38,092,185 (GRCm39)	T1245A	probably damaging	Het
Rngtt	G	T	4: 33,362,927 (GRCm39)	L360F	probably damaging	Het
Scrib	A	C	15: 75,936,610 (GRCm39)	V447G	probably damaging	Het
Slc22a6	C	A	19: 8,598,684 (GRCm39)	A247E	possibly damaging	Het
Slc25a20	G	A	9: 108,539,343 (GRCm39)		probably benign	Het
Spag16	T	A	1: 69,958,585 (GRCm39)		probably null	Het
Stx3	C	T	19: 11,767,412 (GRCm39)	W87*	probably null	Het
Syngap1	T	A	17: 27,181,961 (GRCm39)	M1158K	possibly damaging	Het
Tmed9	C	A	13: 55,741,107 (GRCm39)	H41N	possibly damaging	Het
Trav15-2-dv6-2	G	A	14: 53,887,242 (GRCm39)	S54N	probably benign	Het
Tyk2	C	T	9: 21,020,156 (GRCm39)	V1001I	probably benign	Het
Ugt8a	A	G	3: 125,709,065 (GRCm39)	V15A	probably benign	Het
Uhrf2	A	G	19: 30,065,949 (GRCm39)	E661G	probably benign	Het
Vmn2r77	T	A	7: 86,449,979 (GRCm39)	I75N	probably benign	Het
Zfp87	T	A	13: 74,520,513 (GRCm39)	K188N	possibly damaging	Het
Zgrf1	C	A	3: 127,377,299 (GRCm39)	S848*	probably null	Het

Other mutations in Zfp346

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0480:Zfp346	UTSW	13	55,260,910 (GRCm39)	nonsense	probably null
R2025:Zfp346	UTSW	13	55,280,121 (GRCm39)	missense	probably damaging	1.00
R2879:Zfp346	UTSW	13	55,253,163 (GRCm39)	missense	possibly damaging	0.66
R4564:Zfp346	UTSW	13	55,261,520 (GRCm39)	missense	probably damaging	1.00
R4821:Zfp346	UTSW	13	55,261,626 (GRCm39)	intron	probably benign
R5647:Zfp346	UTSW	13	55,270,170 (GRCm39)	missense	probably damaging	1.00
R5665:Zfp346	UTSW	13	55,260,915 (GRCm39)	missense	probably benign	0.39
R6145:Zfp346	UTSW	13	55,263,387 (GRCm39)	missense	probably damaging	0.98
R6450:Zfp346	UTSW	13	55,261,517 (GRCm39)	missense	probably damaging	1.00
R7034:Zfp346	UTSW	13	55,280,200 (GRCm39)	missense	probably benign	0.28
R7036:Zfp346	UTSW	13	55,280,200 (GRCm39)	missense	probably benign	0.28
R7148:Zfp346	UTSW	13	55,253,263 (GRCm39)	missense	possibly damaging	0.78
R8721:Zfp346	UTSW	13	55,261,491 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- ATAGTGTTACACGGCCTTGC -3'
(R):5'- AATGCTAGCTGAAGGGCTGATG -3'

Sequencing Primer
(F):5'- AGGCCTCTCAGTTAGTTCCAAG -3'
(R):5'- GCTGATGGAGGAGACCCAC -3'

Posted On

2019-06-26