Mutagenetix > Incidental Mutation

Incidental Mutation 'R0096:Zfp345'

155831

Institutional Source

Beutler Lab

Gene Symbol

Zfp345

Ensembl Gene

ENSMUSG00000074731

Gene Name

zinc finger protein 345

Synonyms

OTTMUSG00000015743

MMRRC Submission

038382-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R0096 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

150312911-150326983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150314220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 439 (H439L)

Ref Sequence

ENSEMBL: ENSMUSP00000105540 (fasta)

Gene Model

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

AlphaFold

A2AQA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000109914
AA Change: H439L

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

SMART Domains

Protein: ENSMUSP00000105540
Gene: ENSMUSG00000074731
AA Change: H439L

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

0.9050

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.5%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,435,563 (GRCm39)		probably null	Het
Adamts3	G	A	5: 89,849,576 (GRCm39)	Q615*	probably null	Het
Adamtsl3	T	A	7: 82,114,907 (GRCm39)		probably benign	Het
Anks1b	T	C	10: 89,909,924 (GRCm39)	S48P	possibly damaging	Het
Aoc1l2	A	C	6: 48,908,122 (GRCm39)	Q374P	probably damaging	Het
Arfip2	T	A	7: 105,287,437 (GRCm39)	K94N	probably damaging	Het
Arhgap42	G	T	9: 9,009,314 (GRCm39)	N524K	probably damaging	Het
Arhgef28	T	G	13: 98,067,762 (GRCm39)	T1388P	probably damaging	Het
Arid4b	T	C	13: 14,303,779 (GRCm39)	V68A	probably benign	Het
BC005537	T	C	13: 24,989,923 (GRCm39)	F129L	probably damaging	Het
Capn3	A	T	2: 120,333,010 (GRCm39)	H592L	possibly damaging	Het
Dglucy	A	T	12: 100,804,910 (GRCm39)	I134F	possibly damaging	Het
Dhh	T	A	15: 98,791,869 (GRCm39)	M380L	probably benign	Het
Dnai2	A	C	11: 114,645,158 (GRCm39)	D531A	probably benign	Het
Dthd1	A	T	5: 63,000,383 (GRCm39)	R568S	possibly damaging	Het
Efr3a	A	G	15: 65,727,290 (GRCm39)	N613S	probably damaging	Het
Epb41l5	T	A	1: 119,551,641 (GRCm39)		probably benign	Het
Ermp1	A	G	19: 29,608,788 (GRCm39)	Y164H	possibly damaging	Het
Fam120c	CCAGCAGCAGCAGCAGCA	CCAGCAGCAGCAGCA	X: 150,127,341 (GRCm39)		probably benign	Het
Fbrs	C	T	7: 127,088,659 (GRCm39)	A145V	probably damaging	Het
Gm4736	T	C	6: 132,092,569 (GRCm39)		noncoding transcript	Het
Gm9873	A	T	2: 168,863,029 (GRCm39)		noncoding transcript	Het
Grik1	T	C	16: 87,831,114 (GRCm39)	M219V	possibly damaging	Het
Gtsf1l	C	T	2: 162,929,456 (GRCm39)	C9Y	probably damaging	Het
Itih5	G	A	2: 10,256,189 (GRCm39)	R885Q	probably benign	Het
Kdm4c	A	G	4: 74,275,580 (GRCm39)	E752G	probably damaging	Het
Ksr1	A	G	11: 78,929,073 (GRCm39)		probably benign	Het
Lama1	T	A	17: 68,112,408 (GRCm39)	F2283I	probably benign	Het
Luc7l3	A	G	11: 94,192,320 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,583 (GRCm39)	M122L	probably benign	Het
Map1a	A	G	2: 121,131,986 (GRCm39)	E696G	probably damaging	Het
Mrps34	A	G	17: 25,114,643 (GRCm39)	D110G	probably damaging	Het
Myh11	T	A	16: 14,022,231 (GRCm39)	K1710M	possibly damaging	Het
Myo1d	A	G	11: 80,375,158 (GRCm39)	L972P	probably damaging	Het
Nos1ap	T	C	1: 170,156,816 (GRCm39)	D214G	probably damaging	Het
Or4c119	A	T	2: 88,986,640 (GRCm39)	M293K	probably benign	Het
Or8b46	A	T	9: 38,450,832 (GRCm39)	I214F	probably damaging	Het
Pate4	T	G	9: 35,523,130 (GRCm39)	T5P	probably damaging	Het
Pygl	A	T	12: 70,237,940 (GRCm39)		probably benign	Het
Samd4	A	T	14: 47,301,754 (GRCm39)	M252L	possibly damaging	Het
Serpinb1c	T	A	13: 33,070,266 (GRCm39)		probably benign	Het
Sis	A	T	3: 72,835,600 (GRCm39)	W921R	probably damaging	Het
Skint5	A	T	4: 113,454,965 (GRCm39)		probably benign	Het
Slc27a6	T	C	18: 58,731,829 (GRCm39)		probably benign	Het
Sycp2	G	T	2: 178,045,528 (GRCm39)	Q31K	probably damaging	Het
Taar7f	A	G	10: 23,926,152 (GRCm39)	M249V	probably benign	Het
Tarm1	T	C	7: 3,546,067 (GRCm39)	T79A	probably benign	Het
Tektl1	T	A	10: 78,584,539 (GRCm39)	I328L	probably benign	Het
Trf	A	G	9: 103,099,358 (GRCm39)	F300L	probably damaging	Het
Vmn1r69	T	A	7: 10,313,985 (GRCm39)	I170F	probably damaging	Het
Vmn2r105	A	G	17: 20,447,741 (GRCm39)	F361S	possibly damaging	Het
Vmn2r79	A	G	7: 86,686,527 (GRCm39)	Y636C	probably damaging	Het
Wdr59	T	C	8: 112,231,005 (GRCm39)	N68D	probably damaging	Het

Other mutations in Zfp345

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Zfp345	APN	2	150,314,649 (GRCm39)	missense	probably damaging	1.00
IGL00846:Zfp345	APN	2	150,314,538 (GRCm39)	missense	possibly damaging	0.76
IGL01020:Zfp345	APN	2	150,314,967 (GRCm39)	missense	possibly damaging	0.68
IGL01931:Zfp345	APN	2	150,315,270 (GRCm39)	missense	probably benign	0.38
IGL02237:Zfp345	APN	2	150,316,805 (GRCm39)	splice site	probably benign
IGL02335:Zfp345	APN	2	150,316,463 (GRCm39)	missense	possibly damaging	0.92
IGL02592:Zfp345	APN	2	150,315,229 (GRCm39)	missense	probably benign	0.36
IGL02736:Zfp345	APN	2	150,316,474 (GRCm39)	missense	probably damaging	0.99
R0095:Zfp345	UTSW	2	150,314,220 (GRCm39)	missense	probably damaging	1.00
R0143:Zfp345	UTSW	2	150,314,475 (GRCm39)	missense	probably benign
R0371:Zfp345	UTSW	2	150,313,983 (GRCm39)	missense	possibly damaging	0.81
R0412:Zfp345	UTSW	2	150,315,323 (GRCm39)	missense	probably benign	0.00
R0415:Zfp345	UTSW	2	150,316,479 (GRCm39)	splice site	probably benign
R0420:Zfp345	UTSW	2	150,315,163 (GRCm39)	missense	possibly damaging	0.74
R0697:Zfp345	UTSW	2	150,314,829 (GRCm39)	missense	probably benign	0.13
R0799:Zfp345	UTSW	2	150,314,271 (GRCm39)	missense	probably benign	0.27
R1881:Zfp345	UTSW	2	150,314,275 (GRCm39)	missense	probably damaging	1.00
R1954:Zfp345	UTSW	2	150,316,741 (GRCm39)	missense	probably damaging	1.00
R2004:Zfp345	UTSW	2	150,314,038 (GRCm39)	missense	possibly damaging	0.90
R2152:Zfp345	UTSW	2	150,314,578 (GRCm39)	missense	probably benign	0.00
R2153:Zfp345	UTSW	2	150,314,578 (GRCm39)	missense	probably benign	0.00
R3051:Zfp345	UTSW	2	150,316,772 (GRCm39)	missense	probably benign	0.07
R3880:Zfp345	UTSW	2	150,314,075 (GRCm39)	missense	possibly damaging	0.91
R3939:Zfp345	UTSW	2	150,314,473 (GRCm39)	missense	probably damaging	1.00
R4801:Zfp345	UTSW	2	150,315,228 (GRCm39)	missense	possibly damaging	0.91
R4802:Zfp345	UTSW	2	150,315,228 (GRCm39)	missense	possibly damaging	0.91
R4897:Zfp345	UTSW	2	150,314,608 (GRCm39)	missense	probably benign	0.05
R5606:Zfp345	UTSW	2	150,316,788 (GRCm39)	nonsense	probably null
R6009:Zfp345	UTSW	2	150,314,437 (GRCm39)	missense	probably damaging	1.00
R6191:Zfp345	UTSW	2	150,315,010 (GRCm39)	missense	probably benign	0.11
R6194:Zfp345	UTSW	2	150,314,551 (GRCm39)	missense	probably damaging	1.00
R6782:Zfp345	UTSW	2	150,315,274 (GRCm39)	missense	probably damaging	0.97
R6932:Zfp345	UTSW	2	150,315,331 (GRCm39)	missense	probably damaging	0.99
R7356:Zfp345	UTSW	2	150,314,209 (GRCm39)	missense	probably damaging	1.00
R7980:Zfp345	UTSW	2	150,314,723 (GRCm39)	nonsense	probably null
R8387:Zfp345	UTSW	2	150,314,740 (GRCm39)	missense	probably damaging	0.96
R8515:Zfp345	UTSW	2	150,314,348 (GRCm39)	missense	probably benign	0.01
R8940:Zfp345	UTSW	2	150,314,277 (GRCm39)	missense	probably benign	0.40
R9038:Zfp345	UTSW	2	150,313,864 (GRCm39)	missense	probably benign	0.02
R9383:Zfp345	UTSW	2	150,314,503 (GRCm39)	missense	possibly damaging	0.89
R9480:Zfp345	UTSW	2	150,315,212 (GRCm39)	nonsense	probably null
R9723:Zfp345	UTSW	2	150,314,189 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2014-02-07