Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Zfp346'

444371

Institutional Source

Beutler Lab

Gene Symbol

Zfp346

Ensembl Gene

ENSMUSG00000021481

Gene Name

zinc finger protein 346

Synonyms

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

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

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55253124-55282638 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55260915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 81 (M81T)

Ref Sequence

ENSEMBL: ENSMUSP00000124034 (fasta)

Gene Model

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

AlphaFold

Q9R0B7

Predicted Effect

probably benign
Transcript: ENSMUST00000021937
AA Change: M81T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021937
Gene: ENSMUSG00000021481
AA Change: M81T

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 benign
Transcript: ENSMUST00000159147
AA Change: M81T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124107
Gene: ENSMUSG00000021481
AA Change: M81T

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 benign
Transcript: ENSMUST00000159278
AA Change: M81T

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125078
Gene: ENSMUSG00000021481
AA Change: M81T

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
AA Change: M81T

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124034
Gene: ENSMUSG00000021481
AA Change: M81T

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: M62T

SMART Domains

Protein: ENSMUSP00000125204
Gene: ENSMUSG00000021481
AA Change: M62T

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
AA Change: M81T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124397
Gene: ENSMUSG00000021481
AA Change: M81T

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
AA Change: M81T

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124180
Gene: ENSMUSG00000021481
AA Change: M81T

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
AA Change: M81T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000125389
Gene: ENSMUSG00000021481
AA Change: M81T

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
AA Change: M81T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000125743
Gene: ENSMUSG00000021481
AA Change: M81T

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acaca	G	T	11: 84,136,120 (GRCm39)	E492*	probably null	Het
Acp7	T	A	7: 28,315,968 (GRCm39)	K206M	probably benign	Het
Agbl1	T	A	7: 76,239,251 (GRCm39)	F584I	probably damaging	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,238,357 (GRCm39)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,130,371 (GRCm39)	T173P	probably damaging	Het
Asap1	A	G	15: 64,184,302 (GRCm39)	S44P	probably damaging	Het
Btbd7	C	A	12: 102,751,456 (GRCm39)	A1103S	probably benign	Het
Capn10	T	A	1: 92,865,653 (GRCm39)		probably null	Het
Capn7	T	C	14: 31,091,759 (GRCm39)	F719L	probably benign	Het
Casp7	G	A	19: 56,429,414 (GRCm39)	D267N	probably benign	Het
Ccdc13	C	A	9: 121,643,356 (GRCm39)	K348N	probably damaging	Het
Chchd1	T	C	14: 20,753,178 (GRCm39)	F13L	probably benign	Het
Clcn6	T	A	4: 148,099,018 (GRCm39)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,755,602 (GRCm39)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,038,755 (GRCm39)	F278S	probably damaging	Het
Dhx16	C	T	17: 36,201,978 (GRCm39)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,111,378 (GRCm39)	L121P	probably benign	Het
Dpyd	A	G	3: 118,710,741 (GRCm39)	E383G	probably damaging	Het
Eif4g3	A	G	4: 137,853,900 (GRCm39)	T489A	probably benign	Het
Elovl1	G	T	4: 118,288,832 (GRCm39)	V174L	probably damaging	Het
Elp3	T	C	14: 65,788,851 (GRCm39)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,574,985 (GRCm39)	W7L	probably damaging	Het
Fchsd2	A	G	7: 100,759,991 (GRCm39)	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,504,308 (GRCm39)	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,263,387 (GRCm39)	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Herc1	A	G	9: 66,372,717 (GRCm39)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,492,610 (GRCm39)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,812,145 (GRCm39)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,791,921 (GRCm39)	Q590*	probably null	Het
Lama1	G	T	17: 68,077,982 (GRCm39)	C1139F	probably damaging	Het
Med29	C	T	7: 28,086,239 (GRCm39)	A190T	probably benign	Het
Muc4	T	C	16: 32,569,600 (GRCm39)	V220A	probably benign	Het
Mxra8	G	T	4: 155,927,378 (GRCm39)	V388L	probably benign	Het
Myo5a	T	C	9: 75,051,463 (GRCm39)		probably null	Het
Myrip	A	G	9: 120,290,499 (GRCm39)	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,590,942 (GRCm39)	V313A	probably benign	Het
Oga	A	C	19: 45,765,436 (GRCm39)	S124A	probably benign	Het
Olfm2	T	G	9: 20,579,840 (GRCm39)		probably null	Het
Or10ag52	T	A	2: 87,044,072 (GRCm39)	S279T	probably benign	Het
Or10x4	T	C	1: 174,218,941 (GRCm39)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,462,620 (GRCm39)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,841,443 (GRCm39)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,219,595 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,658,755 (GRCm39)	T159S	probably damaging	Het
Plk4	A	G	3: 40,768,021 (GRCm39)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,192,657 (GRCm39)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,343,064 (GRCm39)		probably null	Het
Pygb	T	C	2: 150,662,808 (GRCm39)		probably null	Het
Rnf114	T	C	2: 167,352,854 (GRCm39)	I118T	possibly damaging	Het
Sbno2	A	G	10: 79,894,287 (GRCm39)	L1099P	probably benign	Het
Scaper	T	C	9: 55,714,916 (GRCm39)	K791E	probably damaging	Het
Serping1	T	C	2: 84,601,889 (GRCm39)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,319,665 (GRCm39)	S617P	possibly damaging	Het
Slk	G	A	19: 47,624,896 (GRCm39)	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,655,535 (GRCm39)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Spred1	C	T	2: 116,983,486 (GRCm39)	R16*	probably null	Het
Srpk2	A	G	5: 23,723,475 (GRCm39)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,670,610 (GRCm39)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,095,215 (GRCm39)	L272H	probably damaging	Het
Syne2	T	A	12: 76,154,991 (GRCm39)		probably null	Het
Uso1	A	T	5: 92,346,196 (GRCm39)	E793V	possibly damaging	Het
Usp15	A	T	10: 122,966,892 (GRCm39)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,286,336 (GRCm39)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,763,938 (GRCm39)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,330,252 (GRCm39)	S537P	probably damaging	Het
Zbtb12	T	C	17: 35,114,859 (GRCm39)	S215P	possibly damaging	Het
Zfp800	T	C	6: 28,244,512 (GRCm39)	D151G	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
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
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'- TGCAGGAGGTTTGTAAGCATAGC -3'
(R):5'- GCCCTAGCAAACACGTATGAAG -3'

Sequencing Primer
(F):5'- TTTGTAAGCATAGCAGGAGTCATG -3'
(R):5'- GGAAACATCTGGTAACTGTGC -3'

Posted On

2016-11-09