Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Zfp346'

488835

Institutional Source

Beutler Lab

Gene Symbol

Zfp346

Ensembl Gene

ENSMUSG00000021481

Gene Name

zinc finger protein 346

Synonyms

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55253124-55282638 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55263387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 156 (K156R)

Ref Sequence

ENSEMBL: ENSMUSP00000021937 (fasta)

Gene Model

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

AlphaFold

Q9R0B7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021937
AA Change: K156R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021937
Gene: ENSMUSG00000021481
AA Change: K156R

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

possibly damaging
Transcript: ENSMUST00000159147
AA Change: K124R

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124107
Gene: ENSMUSG00000021481
AA Change: K124R

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

possibly damaging
Transcript: ENSMUST00000159278
AA Change: K156R

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125078
Gene: ENSMUSG00000021481
AA Change: K156R

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

noncoding transcript
Transcript: ENSMUST00000161018

SMART Domains

Protein: ENSMUSP00000125154
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

unknown
Transcript: ENSMUST00000161077
AA Change: K137R

SMART Domains

Protein: ENSMUSP00000125204
Gene: ENSMUSG00000021481
AA Change: K137R

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

noncoding transcript
Transcript: ENSMUST00000162288

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: 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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 85,980,664 (GRCm39)		probably null	Het
Abca8b	A	G	11: 109,864,634 (GRCm39)	V316A	probably benign	Het
Acad10	A	T	5: 121,760,096 (GRCm39)	V999D	probably damaging	Het
Acot8	A	G	2: 164,644,985 (GRCm39)	V66A	probably benign	Het
Ankrd11	T	C	8: 123,619,400 (GRCm39)	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,885,730 (GRCm39)	F405S	probably damaging	Het
Asmt	G	A	X: 169,108,398 (GRCm39)	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,114,805 (GRCm39)	V327I	probably damaging	Het
Brdt	A	G	5: 107,525,865 (GRCm39)	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,353,087 (GRCm39)	C313S	probably damaging	Het
Camk2d	T	C	3: 126,599,507 (GRCm39)	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794 (GRCm39)	H58L	probably damaging	Het
Ccdc78	C	A	17: 26,008,039 (GRCm39)	P317T	probably benign	Het
Cdc16	T	G	8: 13,817,573 (GRCm39)	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 117,321,717 (GRCm39)	N270I	probably damaging	Het
Cfap221	T	A	1: 119,912,546 (GRCm39)	I114F	possibly damaging	Het
Dmxl1	A	G	18: 50,045,833 (GRCm39)	E2414G	possibly damaging	Het
Dnaaf9	T	C	2: 130,620,393 (GRCm39)	I247V	probably benign	Het
Dnah1	C	A	14: 31,022,927 (GRCm39)	R1070L	probably benign	Het
Dnah14	T	C	1: 181,493,982 (GRCm39)	S1713P	probably benign	Het
Dock10	C	A	1: 80,553,621 (GRCm39)	G602*	probably null	Het
Ep400	A	T	5: 110,904,569 (GRCm39)	V10D	possibly damaging	Het
Epas1	T	C	17: 87,136,857 (GRCm39)	C807R	probably benign	Het
Esrrb	C	T	12: 86,552,673 (GRCm39)	P200L	probably benign	Het
Fbxw26	T	C	9: 109,561,691 (GRCm39)	I168V	probably benign	Het
Fsip2	A	T	2: 82,824,112 (GRCm39)	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,788,762 (GRCm39)	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,520,438 (GRCm39)	T43P	probably damaging	Het
Gm5134	A	T	10: 75,831,673 (GRCm39)	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,270,266 (GRCm39)	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,455,765 (GRCm39)	Y216*	probably null	Het
Grm5	T	A	7: 87,675,809 (GRCm39)	M441K	probably damaging	Het
Heatr6	A	G	11: 83,656,962 (GRCm39)	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,892,391 (GRCm39)	K201N	probably damaging	Het
Igsf10	T	A	3: 59,239,077 (GRCm39)	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,685,057 (GRCm39)	D131V	probably damaging	Het
Imp4	A	G	1: 34,479,177 (GRCm39)	E19G	probably benign	Het
Kcnk18	T	C	19: 59,224,039 (GRCm39)	*395Q	probably null	Het
Kdm6b	A	T	11: 69,295,852 (GRCm39)	L805Q	unknown	Het
Lgr4	T	A	2: 109,837,588 (GRCm39)	L427*	probably null	Het
Myt1l	G	A	12: 29,882,380 (GRCm39)	S525N	unknown	Het
Nasp	G	A	4: 116,468,274 (GRCm39)	T237I	probably benign	Het
Nell2	G	T	15: 95,371,442 (GRCm39)	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,562,455 (GRCm39)	G107R	probably damaging	Het
Nsun4	A	G	4: 115,897,403 (GRCm39)	S203P	probably damaging	Het
Or1m1	T	G	9: 18,666,865 (GRCm39)	D22A	probably benign	Het
Or7g35	T	C	9: 19,496,184 (GRCm39)	V117A	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pde10a	T	C	17: 9,147,949 (GRCm39)	V366A	probably damaging	Het
Pdxk	T	A	10: 78,279,625 (GRCm39)	D250V	probably benign	Het
Pih1d1	T	A	7: 44,808,468 (GRCm39)	I179N	probably damaging	Het
Plaa	T	A	4: 94,472,229 (GRCm39)	I294F	probably damaging	Het
Pmel	C	A	10: 128,551,804 (GRCm39)	P213T	probably damaging	Het
Pom121l2	A	T	13: 22,166,472 (GRCm39)	R248*	probably null	Het
Pou2f1	T	C	1: 165,703,002 (GRCm39)		probably benign	Het
Ppm1j	G	A	3: 104,688,695 (GRCm39)	R98H	probably damaging	Het
Prkdc	C	T	16: 15,589,937 (GRCm39)	P2600L	probably damaging	Het
Prom1	T	C	5: 44,186,991 (GRCm39)	N422S	probably benign	Het
Pspn	C	T	17: 57,306,467 (GRCm39)	C154Y	probably damaging	Het
Ptdss1	T	C	13: 67,120,701 (GRCm39)		probably null	Het
Rapgef1	A	G	2: 29,626,678 (GRCm39)	Y993C	probably damaging	Het
Scrn2	A	C	11: 96,923,679 (GRCm39)	T219P	probably benign	Het
Sec23ip	T	G	7: 128,380,208 (GRCm39)	S874R	probably damaging	Het
Septin4	G	A	11: 87,476,072 (GRCm39)		probably null	Het
Slc15a3	C	T	19: 10,834,615 (GRCm39)	L499F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Sra1	A	G	18: 36,800,628 (GRCm39)	M193T	probably damaging	Het
Srsf4	G	T	4: 131,627,605 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,002,750 (GRCm39)	D8055G	probably damaging	Het
Syne4	T	A	7: 30,015,988 (GRCm39)		probably null	Het
Tbc1d24	C	A	17: 24,427,203 (GRCm39)	G253V	probably damaging	Het
Tbck	T	A	3: 132,437,976 (GRCm39)	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030 (GRCm39)	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,619,031 (GRCm39)	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,214,072 (GRCm39)	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,283,113 (GRCm39)	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,314,364 (GRCm39)	F206L	probably benign	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
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
R7298:Zfp346	UTSW	13	55,278,416 (GRCm39)	missense	probably damaging	0.97
R8721:Zfp346	UTSW	13	55,261,491 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TGGTCTTAAATGTCCACCAGC -3'
(R):5'- TGAGCATTCTGGAAGCACC -3'

Sequencing Primer
(F):5'- GGTCTTAAATGTCCACCAGCCAATG -3'
(R):5'- CAATGGTGCCCTGAGGATG -3'

Posted On

2017-10-10