Mutagenetix > Incidental Mutation

Incidental Mutation 'R3108:Zfp169'

263676

Institutional Source

Beutler Lab

Gene Symbol

Zfp169

Ensembl Gene

ENSMUSG00000050954

Gene Name

zinc finger protein 169

Synonyms

MMRRC Submission

040582-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48487647-48513451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48489996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 552 (S552P)

Ref Sequence

ENSEMBL: ENSMUSP00000135414 (fasta)

Gene Model

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

AlphaFold

E9Q3R6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110110
AA Change: S552P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105737
Gene: ENSMUSG00000050954
AA Change: S552P

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: S552P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135414
Gene: ENSMUSG00000050954
AA Change: S552P

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

0.2625

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	C	T	7: 79,323,585	S104L	probably benign	Het
Adcy1	A	G	11: 7,169,453	Y1032C	probably damaging	Het
Ap4e1	T	C	2: 127,056,306		probably null	Het
Ccnb1	C	T	13: 100,781,624		probably null	Het
Cfap54	T	C	10: 92,994,683	N1197S	probably benign	Het
Cnot1	A	G	8: 95,735,749	V1691A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dennd4a	A	G	9: 64,912,387	K1760R	probably benign	Het
Drd4	T	A	7: 141,292,282	V82E	possibly damaging	Het
Dtx2	G	A	5: 136,021,816	V323M	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fat1	G	A	8: 45,045,173		probably null	Het
Igkv11-125	T	C	6: 67,913,871	F58L	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,328	S279P	possibly damaging	Het
Muc5b	C	T	7: 141,858,759	T1814M	unknown	Het
Nkpd1	G	A	7: 19,522,978	M227I	probably damaging	Het
Ntrk3	C	T	7: 78,460,515	V324M	probably benign	Het
Nup155	C	A	15: 8,117,306	T210K	probably null	Het
Olfr466	T	C	13: 65,153,061	V279A	possibly damaging	Het
Olfr591	T	A	7: 103,173,086	M184L	probably damaging	Het
Pak4	A	T	7: 28,564,344	Y322*	probably null	Het
Raph1	G	A	1: 60,493,386	A696V	probably benign	Het
Satb1	A	T	17: 51,782,782	Y346N	possibly damaging	Het
Serpina1a	A	T	12: 103,853,841	I382N	probably damaging	Het
Slc34a3	G	T	2: 25,229,245	Q538K	probably benign	Het
Slf1	C	T	13: 77,126,721		probably benign	Het
Ston1	G	T	17: 88,636,155	E330*	probably null	Het
Trhde	C	T	10: 114,592,066	E442K	probably damaging	Het
Unc45a	A	G	7: 80,331,546		probably benign	Het
Zfp229	T	A	17: 21,746,816	C676S	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
R1714:Zfp169	UTSW	13	48498854	missense	probably benign	0.35
R1784:Zfp169	UTSW	13	48489819	missense	possibly damaging	0.61
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
R9047:Zfp169	UTSW	13	48498816	missense	probably damaging	1.00
R9124:Zfp169	UTSW	13	48491081	missense	unknown
R9126:Zfp169	UTSW	13	48491081	missense	unknown
R9131:Zfp169	UTSW	13	48491081	missense	unknown
R9132:Zfp169	UTSW	13	48491081	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGCACACAGGAATGGCTTC -3'
(R):5'- GAAGTTCAACCTCATCGGGCAC -3'

Sequencing Primer
(F):5'- CTAGCGAGGTTGAACTTCTGCC -3'
(R):5'- CCAGAGGATTCATACAGGGGAGTTAC -3'

Posted On

2015-02-05