Mutagenetix > Incidental Mutations

Incidental Mutation 'R0571:Zfp169'

46483

Institutional Source

Beutler Lab

Gene Symbol

Zfp169

Ensembl Gene

ENSMUSG00000050954

Gene Name

zinc finger protein 169

Synonyms

MMRRC Submission

038762-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48487647-48513451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48489690 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 654 (T654A)

Ref Sequence

ENSEMBL: ENSMUSP00000135414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110110] [ENSMUST00000167682] [ENSMUST00000176176] [ENSMUST00000176949] [ENSMUST00000176996] [ENSMUST00000177530]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110110
AA Change: T654A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105737
Gene: ENSMUSG00000050954
AA Change: T654A

Domain	Start	End	E-Value	Type
KRAB	14	74	9.74e-36	SMART
ZnF_C2H2	257	279	9.08e-4	SMART
ZnF_C2H2	285	308	2.2e-2	SMART
ZnF_C2H2	314	336	9.73e-4	SMART
ZnF_C2H2	342	364	2.86e-1	SMART
ZnF_C2H2	370	392	4.72e-2	SMART
ZnF_C2H2	398	420	4.24e-4	SMART
ZnF_C2H2	426	448	1.13e-4	SMART
ZnF_C2H2	454	476	2.2e-2	SMART
ZnF_C2H2	482	504	2.99e-4	SMART
ZnF_C2H2	510	532	2.57e-3	SMART
ZnF_C2H2	539	561	3.44e-4	SMART
ZnF_C2H2	567	589	3.69e-4	SMART
ZnF_C2H2	595	617	8.02e-5	SMART
ZnF_C2H2	623	645	1.26e-2	SMART
ZnF_C2H2	651	673	4.79e-3	SMART
ZnF_C2H2	679	701	1.3e-4	SMART
ZnF_C2H2	707	729	5.5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167682

SMART Domains

Protein: ENSMUSP00000127591
Gene: ENSMUSG00000050954

Domain	Start	End	E-Value	Type
KRAB	14	74	9.74e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176176

SMART Domains

Protein: ENSMUSP00000134793
Gene: ENSMUSG00000050954

Domain	Start	End	E-Value	Type
KRAB	14	74	9.74e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176949

SMART Domains

Protein: ENSMUSP00000135695
Gene: ENSMUSG00000050954

Domain	Start	End	E-Value	Type
KRAB	14	74	9.74e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176996

SMART Domains

Protein: ENSMUSP00000135520
Gene: ENSMUSG00000050954

Domain	Start	End	E-Value	Type
KRAB	14	74	9.74e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177474

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177530
AA Change: T654A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135414
Gene: ENSMUSG00000050954
AA Change: T654A

Domain	Start	End	E-Value	Type
KRAB	14	74	9.74e-36	SMART
ZnF_C2H2	257	279	9.08e-4	SMART
ZnF_C2H2	285	308	2.2e-2	SMART
ZnF_C2H2	314	336	9.73e-4	SMART
ZnF_C2H2	342	364	2.86e-1	SMART
ZnF_C2H2	370	392	4.72e-2	SMART
ZnF_C2H2	398	420	4.24e-4	SMART
ZnF_C2H2	426	448	1.13e-4	SMART
ZnF_C2H2	454	476	2.2e-2	SMART
ZnF_C2H2	482	504	2.99e-4	SMART
ZnF_C2H2	510	532	2.57e-3	SMART
ZnF_C2H2	539	561	3.44e-4	SMART
ZnF_C2H2	567	589	3.69e-4	SMART
ZnF_C2H2	595	617	8.02e-5	SMART
ZnF_C2H2	623	645	1.26e-2	SMART
ZnF_C2H2	651	673	4.79e-3	SMART
ZnF_C2H2	679	701	1.3e-4	SMART
ZnF_C2H2	707	729	5.5e-3	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

PHENOTYPE: Homozygous disruption of this locus does not result in an overt phenotype early in life. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,259,793	D2909G	unknown	Het
Abhd4	C	T	14: 54,263,249	T165I	possibly damaging	Het
Acsl5	A	G	19: 55,288,911		probably benign	Het
Actl6b	C	A	5: 137,566,784		probably benign	Het
Atg13	T	C	2: 91,678,718		probably benign	Het
Cabyr	A	G	18: 12,750,852	E132G	probably damaging	Het
Cadps2	C	T	6: 23,583,412	V389I	probably damaging	Het
Capn2	C	T	1: 182,470,760	V647I	probably benign	Het
Card10	G	T	15: 78,787,401	P621Q	possibly damaging	Het
Catsperb	C	G	12: 101,602,774	H902D	possibly damaging	Het
Cers3	A	G	7: 66,786,057	M255V	possibly damaging	Het
Cfh	T	C	1: 140,102,333		probably null	Het
Chd3	A	C	11: 69,361,669		probably null	Het
Chpf2	G	T	5: 24,590,427	R316L	probably damaging	Het
Clca1	T	A	3: 145,007,789	N694Y	probably damaging	Het
Ctbp2	G	A	7: 133,014,805	L44F	probably damaging	Het
Cttnbp2	T	C	6: 18,381,103	M1365V	probably benign	Het
D130052B06Rik	G	A	11: 33,623,922	R173H	probably benign	Het
Dchs1	A	G	7: 105,771,996	F406L	probably damaging	Het
Ddx43	T	A	9: 78,413,863	N384K	possibly damaging	Het
Drd5	G	A	5: 38,319,927	V88M	probably damaging	Het
Eefsec	A	T	6: 88,297,899	F361Y	probably benign	Het
Epb41	T	C	4: 131,989,904	D313G	probably damaging	Het
Etl4	T	C	2: 20,743,769	M104T	probably damaging	Het
Fabp7	A	T	10: 57,785,541	T37S	probably benign	Het
Fam186b	T	C	15: 99,286,953	T30A	probably benign	Het
Fam83d	G	A	2: 158,785,691	W433*	probably null	Het
Fmnl2	A	T	2: 53,054,491	T161S	probably benign	Het
Ghsr	C	T	3: 27,372,016	R74C	probably damaging	Het
Gm6990	G	A	19: 56,755,243		noncoding transcript	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Gtpbp4	A	T	13: 8,990,686		probably benign	Het
Hamp2	A	G	7: 30,924,086	L17P	possibly damaging	Het
Heatr1	C	A	13: 12,430,240	S1581R	probably damaging	Het
Hpf1	T	C	8: 60,900,113	V176A	probably benign	Het
Hydin	T	A	8: 110,514,103		probably null	Het
Ighg2c	G	A	12: 113,288,762	Q57*	probably null	Het
Itgb4	A	G	11: 115,979,768	N141S	possibly damaging	Het
Kif13b	G	T	14: 64,751,528	R786L	probably damaging	Het
Lhx3	C	A	2: 26,201,124	W391L	probably damaging	Het
Map1s	T	A	8: 70,912,907	V152D	probably damaging	Het
Map4	T	C	9: 110,036,766	M608T	probably benign	Het
Mb21d2	G	A	16: 28,929,572	A31V	probably benign	Het
Mfn1	T	C	3: 32,561,472	I328T	probably damaging	Het
Myh4	A	T	11: 67,250,331	I740F	possibly damaging	Het
Neo1	A	G	9: 58,985,786	V191A	probably benign	Het
Nfatc4	T	C	14: 55,830,028	V565A	probably damaging	Het
Nrxn2	G	C	19: 6,473,533	E525D	probably damaging	Het
Olfr361	T	C	2: 37,085,334	H138R	probably benign	Het
Pcdhb12	A	T	18: 37,437,208	D469V	probably damaging	Het
Pcdhb6	G	T	18: 37,335,114	V363L	probably benign	Het
Pkd1l2	T	C	8: 117,082,218	T78A	probably benign	Het
Primpol	T	G	8: 46,581,639	D418A	probably damaging	Het
Rbm12b1	G	A	4: 12,146,248	S740N	probably benign	Het
Rpe65	T	C	3: 159,600,349	L15P	probably damaging	Het
Rxrb	CGCGGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGCGGC	17: 34,032,132		probably benign	Het
Sectm1a	A	G	11: 121,069,102		probably benign	Het
Sft2d1	C	A	17: 8,326,950		probably benign	Het
Slc22a18	A	G	7: 143,491,861		probably benign	Het
Slu7	G	A	11: 43,441,578		probably null	Het
Smc4	T	C	3: 69,024,289	V572A	probably damaging	Het
Spire2	T	A	8: 123,354,116	I33N	probably damaging	Het
Tbck	T	A	3: 132,752,642	C678S	probably damaging	Het
Tnrc6b	T	C	15: 80,913,338	V1362A	probably damaging	Het
Ttn	T	C	2: 76,739,982	K25110E	possibly damaging	Het
Ugt2b35	A	G	5: 87,000,934	S15G	possibly damaging	Het
Upf3a	T	A	8: 13,792,184	I200K	probably damaging	Het
Vill	G	C	9: 119,070,633	G295A	possibly damaging	Het
Vmn1r191	A	T	13: 22,179,047	V179D	probably damaging	Het
Vmn2r74	T	C	7: 85,952,421	T670A	probably damaging	Het
Zfp646	A	G	7: 127,881,966	E1105G	probably damaging	Het
Zyg11b	A	T	4: 108,260,042	Y334N	probably damaging	Het

Other mutations in Zfp169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01925:Zfp169	APN	13	48490763	unclassified	probably benign
IGL03329:Zfp169	APN	13	48490794	unclassified	probably benign
IGL03382:Zfp169	APN	13	48491163	unclassified	probably benign
IGL03394:Zfp169	APN	13	48489924	missense	possibly damaging	0.93
BB010:Zfp169	UTSW	13	48490481	missense	unknown
BB020:Zfp169	UTSW	13	48490481	missense	unknown
R1714:Zfp169	UTSW	13	48498854	missense	probably benign	0.35
R1784:Zfp169	UTSW	13	48489819	missense	possibly damaging	0.61
R3108:Zfp169	UTSW	13	48489996	missense	possibly damaging	0.86
R3689:Zfp169	UTSW	13	48506901	splice site	probably benign
R4444:Zfp169	UTSW	13	48490337	missense	possibly damaging	0.94
R4665:Zfp169	UTSW	13	48490863	unclassified	probably benign
R4719:Zfp169	UTSW	13	48490158	missense	probably benign	0.06
R4745:Zfp169	UTSW	13	48490232	missense	possibly damaging	0.71
R5288:Zfp169	UTSW	13	48490275	missense	possibly damaging	0.61
R5384:Zfp169	UTSW	13	48490275	missense	possibly damaging	0.61
R5979:Zfp169	UTSW	13	48491040	unclassified	probably benign
R6053:Zfp169	UTSW	13	48498858	missense	probably damaging	1.00
R6823:Zfp169	UTSW	13	48490996	unclassified	probably benign
R7084:Zfp169	UTSW	13	48498863	missense	probably benign	0.10
R7679:Zfp169	UTSW	13	48498383	missense	probably damaging	0.99
R7933:Zfp169	UTSW	13	48490481	missense	unknown
R8298:Zfp169	UTSW	13	48498377	nonsense	probably null
R8322:Zfp169	UTSW	13	48491099	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCCCACAATGCCCGTTCTTAG -3'
(R):5'- TCAGGCAGAAGTTCAACCTCGC -3'

Sequencing Primer
(F):5'- ATGAGGTGTCATCCCATCCAG -3'
(R):5'- GAAGTTCAACCTCGCTAGGC -3'

Posted On

2013-06-11