Mutagenetix > Incidental Mutations

Incidental Mutation 'R4444:Zfp169'

329810

Institutional Source

Beutler Lab

Gene Symbol

Zfp169

Ensembl Gene

ENSMUSG00000050954

Gene Name

zinc finger protein 169

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

R4444 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48487647-48513451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48490337 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 438 (K438M)

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: K438M

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105737
Gene: ENSMUSG00000050954
AA Change: K438M

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: K438M

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135414
Gene: ENSMUSG00000050954
AA Change: K438M

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: 98.6%
10x: 97.2%
20x: 95.2%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	G	T	7: 46,136,194	T695N	probably benign	Het
Cdkl2	G	A	5: 92,020,309	T342I	probably benign	Het
Cntn5	C	A	9: 9,704,942	E822D	probably damaging	Het
Cysltr2	G	A	14: 73,029,893	H126Y	possibly damaging	Het
Dlg2	T	C	7: 92,088,593	S428P	probably damaging	Het
Egfr	A	G	11: 16,871,027	D314G	probably benign	Het
Ercc5	GAAAA	GAAAAA	1: 44,158,209		probably null	Het
Gemin4	A	G	11: 76,212,091	F615L	probably benign	Het
Ggn	A	G	7: 29,172,160	T322A	probably benign	Het
Hunk	C	T	16: 90,432,791	A180V	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Myo1b	A	T	1: 51,757,919	I988N	probably damaging	Het
Nlrp4e	A	G	7: 23,321,227	I380V	probably benign	Het
Olfr694	T	A	7: 106,689,146	Y195F	possibly damaging	Het
Plb1	G	A	5: 32,330,565	V930I	probably benign	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Retreg1	T	G	15: 25,968,444		probably null	Het
Rnf13	A	C	3: 57,820,589	K230T	probably damaging	Het
Rpl9-ps1	T	C	11: 83,645,381	I81V	possibly damaging	Het
Slco1c1	A	G	6: 141,546,691	T267A	possibly damaging	Het
Spc25	A	T	2: 69,204,876	M47K	probably benign	Het
Syne2	A	G	12: 76,023,030	E4377G	probably damaging	Het
Usp34	A	G	11: 23,435,998	T2142A	probably damaging	Het
Zc3h7a	A	G	16: 11,150,593		probably null	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
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
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'- CCGATGAGGTTGAACTTCTGGC -3'
(R):5'- GTGACAACCCCTTCATCTGC -3'

Sequencing Primer
(F):5'- GAGGTTGAACTTCTGGCTAAACCC -3'
(R):5'- GTGGCTTCAGGCTGCTCTC -3'

Posted On

2015-07-21