Mutagenetix > Incidental Mutation

Incidental Mutation 'R3939:Zfp345'

308585

Institutional Source

Beutler Lab

Gene Symbol

Zfp345

Ensembl Gene

ENSMUSG00000074731

Gene Name

zinc finger protein 345

Synonyms

OTTMUSG00000015743

MMRRC Submission

040826-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R3939 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150470991-150485091 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 150472553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 355 (H355Y)

Ref Sequence

ENSEMBL: ENSMUSP00000105540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109914]

AlphaFold

A2AQA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000109914
AA Change: H355Y

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

SMART Domains

Protein: ENSMUSP00000105540
Gene: ENSMUSG00000074731
AA Change: H355Y

Domain	Start	End	E-Value	Type
KRAB	4	66	9.5e-20	SMART
ZnF_C2H2	103	125	2e-2	SMART
ZnF_C2H2	131	153	2.9e-6	SMART
ZnF_C2H2	159	181	4.1e-3	SMART
ZnF_C2H2	215	237	2.6e-7	SMART
ZnF_C2H2	243	265	1.6e-5	SMART
ZnF_C2H2	271	293	4e-7	SMART
ZnF_C2H2	299	321	1.1e-5	SMART
ZnF_C2H2	327	349	5.9e-7	SMART
ZnF_C2H2	365	387	4.4e-7	SMART
ZnF_C2H2	393	415	7.3e-6	SMART
ZnF_C2H2	421	443	2.7e-5	SMART
ZnF_C2H2	449	471	1.5e-4	SMART
ZnF_C2H2	477	499	1.3e-5	SMART
ZnF_C2H2	505	527	5.1e-6	SMART
ZnF_C2H2	533	555	9.2e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117906

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Atp13a2	T	C	4: 141,006,422	S1041P	probably damaging	Het
Brinp3	C	A	1: 146,751,861	D277E	probably damaging	Het
Cacnb4	C	A	2: 52,469,489	R169L	probably damaging	Het
Col13a1	T	C	10: 61,863,082	I491V	unknown	Het
Corin	T	C	5: 72,339,879	D531G	possibly damaging	Het
Cx3cr1	C	T	9: 120,051,644	V231I	probably benign	Het
Dennd4c	T	G	4: 86,774,280	V9G	probably damaging	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Faf1	T	G	4: 109,861,879	L394R	probably damaging	Het
Fgfr4	G	A	13: 55,156,494	D116N	probably null	Het
Flt3	A	G	5: 147,356,243	Y518H	possibly damaging	Het
Frem3	T	C	8: 80,615,020	I1314T	possibly damaging	Het
Gk2	T	A	5: 97,455,352	L542F	possibly damaging	Het
Gm4922	T	A	10: 18,784,614	E120V	probably damaging	Het
Hip1	A	T	5: 135,428,764	I285N	probably benign	Het
Kcnd2	C	A	6: 21,217,096	D266E	probably damaging	Het
Kdr	C	T	5: 75,972,429	W63*	probably null	Het
Kit	A	G	5: 75,609,318	D130G	probably benign	Het
Megf8	G	A	7: 25,359,202	V2208I	probably benign	Het
Neto2	G	A	8: 85,674,118	T16I	probably damaging	Het
Nktr	T	A	9: 121,749,069		probably benign	Het
Nrxn1	A	G	17: 90,208,421	I1207T	probably damaging	Het
Obox7	G	A	7: 14,664,047	G4D	probably benign	Het
Ogdh	G	A	11: 6,350,655	W827*	probably null	Het
Olfr1223	T	A	2: 89,144,130	K298*	probably null	Het
Olfr309	T	C	7: 86,306,229	M295V	probably benign	Het
Olfr726	A	G	14: 50,083,716	*322Q	probably null	Het
Pcdhga9	G	A	18: 37,738,942	R608H	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sbpl	T	A	17: 23,953,643	I101L	probably benign	Het
Serpina9	T	A	12: 104,008,892	M1L	probably benign	Het
Stxbp6	A	G	12: 44,902,858		probably null	Het
Synpo2	A	G	3: 123,114,590	V359A	probably damaging	Het
Ttyh1	T	A	7: 4,129,318	L155H	probably damaging	Het
Vil1	A	G	1: 74,432,415	D785G	probably benign	Het

Other mutations in Zfp345

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Zfp345	APN	2	150472729	missense	probably damaging	1.00
IGL00846:Zfp345	APN	2	150472618	missense	possibly damaging	0.76
IGL01020:Zfp345	APN	2	150473047	missense	possibly damaging	0.68
IGL01931:Zfp345	APN	2	150473350	missense	probably benign	0.38
IGL02237:Zfp345	APN	2	150474885	splice site	probably benign
IGL02335:Zfp345	APN	2	150474543	missense	possibly damaging	0.92
IGL02592:Zfp345	APN	2	150473309	missense	probably benign	0.36
IGL02736:Zfp345	APN	2	150474554	missense	probably damaging	0.99
R0095:Zfp345	UTSW	2	150472300	missense	probably damaging	1.00
R0096:Zfp345	UTSW	2	150472300	missense	probably damaging	1.00
R0143:Zfp345	UTSW	2	150472555	missense	probably benign
R0371:Zfp345	UTSW	2	150472063	missense	possibly damaging	0.81
R0412:Zfp345	UTSW	2	150473403	missense	probably benign	0.00
R0415:Zfp345	UTSW	2	150474559	splice site	probably benign
R0420:Zfp345	UTSW	2	150473243	missense	possibly damaging	0.74
R0697:Zfp345	UTSW	2	150472909	missense	probably benign	0.13
R0799:Zfp345	UTSW	2	150472351	missense	probably benign	0.27
R1881:Zfp345	UTSW	2	150472355	missense	probably damaging	1.00
R1954:Zfp345	UTSW	2	150474821	missense	probably damaging	1.00
R2004:Zfp345	UTSW	2	150472118	missense	possibly damaging	0.90
R2152:Zfp345	UTSW	2	150472658	missense	probably benign	0.00
R2153:Zfp345	UTSW	2	150472658	missense	probably benign	0.00
R3051:Zfp345	UTSW	2	150474852	missense	probably benign	0.07
R3880:Zfp345	UTSW	2	150472155	missense	possibly damaging	0.91
R4801:Zfp345	UTSW	2	150473308	missense	possibly damaging	0.91
R4802:Zfp345	UTSW	2	150473308	missense	possibly damaging	0.91
R4897:Zfp345	UTSW	2	150472688	missense	probably benign	0.05
R5606:Zfp345	UTSW	2	150474868	nonsense	probably null
R6009:Zfp345	UTSW	2	150472517	missense	probably damaging	1.00
R6191:Zfp345	UTSW	2	150473090	missense	probably benign	0.11
R6194:Zfp345	UTSW	2	150472631	missense	probably damaging	1.00
R6782:Zfp345	UTSW	2	150473354	missense	probably damaging	0.97
R6932:Zfp345	UTSW	2	150473411	missense	probably damaging	0.99
R7356:Zfp345	UTSW	2	150472289	missense	probably damaging	1.00
R7980:Zfp345	UTSW	2	150472803	nonsense	probably null
R8387:Zfp345	UTSW	2	150472820	missense	probably damaging	0.96
R8515:Zfp345	UTSW	2	150472428	missense	probably benign	0.01
R8940:Zfp345	UTSW	2	150472357	missense	probably benign	0.40
R9038:Zfp345	UTSW	2	150471944	missense	probably benign	0.02
R9383:Zfp345	UTSW	2	150472583	missense	possibly damaging	0.89
R9480:Zfp345	UTSW	2	150473292	nonsense	probably null
R9723:Zfp345	UTSW	2	150472269	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTCGTTGCATTCATATGGTCTCTC -3'
(R):5'- GTCCCAGTTCTCTTCAATACCA -3'

Sequencing Primer
(F):5'- GTTCGTTTATGATACAGGAGTCCAC -3'
(R):5'- CCCAGTTCTCTTCAATACCATAAAAG -3'

Posted On

2015-04-17