Mutagenetix > Incidental Mutations

Incidental Mutation 'R1714:Zfp169'

190885

Institutional Source

Beutler Lab

Gene Symbol

Zfp169

Ensembl Gene

ENSMUSG00000050954

Gene Name

zinc finger protein 169

Synonyms

MMRRC Submission

039747-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48487647-48513451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48498854 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 29 (E29G)

Ref Sequence

ENSEMBL: ENSMUSP00000134793 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000110110
AA Change: E29G

SMART Domains

Protein: ENSMUSP00000105737
Gene: ENSMUSG00000050954
AA Change: E29G

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
AA Change: E29G

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127591
Gene: ENSMUSG00000050954
AA Change: E29G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176176
AA Change: E29G

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134793
Gene: ENSMUSG00000050954
AA Change: E29G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176949
AA Change: E29G

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135695
Gene: ENSMUSG00000050954
AA Change: E29G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176996
AA Change: E29G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135520
Gene: ENSMUSG00000050954
AA Change: E29G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177474

Predicted Effect

unknown
Transcript: ENSMUST00000177530
AA Change: E29G

SMART Domains

Protein: ENSMUSP00000135414
Gene: ENSMUSG00000050954
AA Change: E29G

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,316,360	T892I	possibly damaging	Het
Abcb11	A	C	2: 69,306,581	F179V	probably damaging	Het
Adgrg6	G	T	10: 14,439,770	Q597K	possibly damaging	Het
Ankmy1	G	T	1: 92,885,194	Y464*	probably null	Het
Apba1	G	A	19: 23,944,952	E795K	possibly damaging	Het
Aqp12	T	A	1: 93,006,959	V186D	possibly damaging	Het
Brd8	A	T	18: 34,609,833	S253R	probably damaging	Het
Cdc42se2	A	T	11: 54,740,286	S2R	possibly damaging	Het
Chd9	A	C	8: 91,034,225		probably benign	Het
Clk4	C	T	11: 51,280,418	H219Y	probably damaging	Het
Cngb1	A	G	8: 95,257,931	Y417H	probably damaging	Het
Cr2	A	T	1: 195,151,686	F932I	possibly damaging	Het
Cxxc1	C	A	18: 74,219,863	R415S	probably damaging	Het
Dclk2	G	A	3: 86,906,093	A182V	probably benign	Het
Ddx11	T	G	17: 66,148,759	W718G	probably damaging	Het
Dmd	A	C	X: 83,964,750	T2069P	probably benign	Het
Dnaic1	T	C	4: 41,632,164	F533L	probably benign	Het
Dnajc5b	A	T	3: 19,579,101	R163*	probably null	Het
Dynll2	T	A	11: 87,984,012		probably null	Het
Ercc5	A	G	1: 44,167,339	T471A	probably benign	Het
Fan1	T	C	7: 64,366,687	D563G	probably benign	Het
Fbxo34	A	G	14: 47,529,201	Y6C	probably damaging	Het
Fcrl5	T	A	3: 87,446,406	S353T	probably damaging	Het
Gabrb3	A	T	7: 57,765,428	Y82F	probably damaging	Het
Gm20939	C	A	17: 94,875,806	P157T	probably damaging	Het
Haus3	A	T	5: 34,163,697	H468Q	probably benign	Het
Hist1h2ba	T	C	13: 23,933,952	T69A	probably benign	Het
Il20ra	T	C	10: 19,755,828	V259A	probably damaging	Het
Isg15	A	T	4: 156,199,957	V38E	probably damaging	Het
Kcnq3	A	G	15: 66,000,063	S586P	probably benign	Het
Kl	A	T	5: 150,953,333	Y206F	probably benign	Het
Klk1b24	C	A	7: 44,191,515	D122E	probably damaging	Het
Kmt2d	A	C	15: 98,862,950	S840A	unknown	Het
Krt34	A	G	11: 100,040,127	S150P	possibly damaging	Het
Lamc3	A	G	2: 31,940,757	K1502R	probably benign	Het
Letm1	G	T	5: 33,760,884	R306S	possibly damaging	Het
Lnx1	C	T	5: 74,607,737	G397S	probably null	Het
Lrrc8c	A	G	5: 105,607,291	T311A	possibly damaging	Het
Mpeg1	A	T	19: 12,462,834	D552V	probably damaging	Het
Myh11	C	T	16: 14,236,368		probably null	Het
Ndufa9	T	C	6: 126,822,191		probably null	Het
Olfr1289	A	T	2: 111,483,663	I78F	probably damaging	Het
Olfr1507	A	C	14: 52,490,414		probably null	Het
Olfr281	G	A	15: 98,456,733	C141Y	probably damaging	Het
Polr3d	A	C	14: 70,441,315	M117R	possibly damaging	Het
Ppp5c	T	C	7: 17,008,703	I237V	probably benign	Het
Prrc2c	G	A	1: 162,677,376	T2632M	probably damaging	Het
Ptprg	C	A	14: 12,213,697	Q1022K	probably damaging	Het
Pus10	T	A	11: 23,725,542	H471Q	probably damaging	Het
Ralgapa1	A	G	12: 55,642,389	V1928A	probably damaging	Het
Rbpms2	CACT	CACTACT	9: 65,651,665		probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rfpl4	T	G	7: 5,110,358	T269P	probably benign	Het
Rgs10	A	G	7: 128,403,222	V72A	probably damaging	Het
Rsph1	T	C	17: 31,255,216	N289S	probably benign	Het
Sbk2	T	C	7: 4,963,122	D21G	probably benign	Het
Shbg	A	T	11: 69,617,157	D127E	possibly damaging	Het
Spag16	A	G	1: 69,843,005	E52G	probably damaging	Het
Ssh2	G	A	11: 77,454,024	G945D	possibly damaging	Het
Sstr3	A	T	15: 78,540,273	D91E	probably damaging	Het
Syne2	C	A	12: 76,054,939	A669E	probably benign	Het
Traf3	A	G	12: 111,242,473	I109V	probably benign	Het
Ube2j1	A	G	4: 33,049,886	T295A	probably damaging	Het
Usp46	A	G	5: 74,003,167	V276A	probably benign	Het
Vmn1r200	T	C	13: 22,395,470	S139P	possibly damaging	Het
Ydjc	G	A	16: 17,147,799	V143M	probably damaging	Het
Zfp292	A	G	4: 34,808,935	S1370P	probably damaging	Het
Zfp763	C	T	17: 33,019,617	D185N	probably damaging	Het
Zfp827	A	T	8: 79,060,573	N123Y	probably damaging	Het
Zfp979	A	T	4: 147,613,985	I89N	probably damaging	Het
Zfr2	T	C	10: 81,244,749	L419P	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
R0571:Zfp169	UTSW	13	48489690	missense	possibly damaging	0.71
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'- AGTGTGTTGGCTGCTACACAGAC -3'
(R):5'- TGTGCCTAGAGCAAAACAGGAAACC -3'

Sequencing Primer
(F):5'- TGGCTGCTACACAGACATTTAAC -3'
(R):5'- AACTGGCGTCCATACAAGG -3'

Posted On

2014-05-14