Mutagenetix > Incidental Mutations

Incidental Mutation 'R4745:Zfp169'

356676

Institutional Source

Beutler Lab

Gene Symbol

Zfp169

Ensembl Gene

ENSMUSG00000050954

Gene Name

zinc finger protein 169

Synonyms

MMRRC Submission

042028-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48487647-48513451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48490232 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 473 (R473L)

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: R473L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105737
Gene: ENSMUSG00000050954
AA Change: R473L

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: R473L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135414
Gene: ENSMUSG00000050954
AA Change: R473L

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,307,453	Y619C	probably damaging	Het
Adck1	A	G	12: 88,402,179		probably null	Het
Agap3	A	C	5: 24,451,125		probably null	Het
Ankib1	A	T	5: 3,732,566	H354Q	probably damaging	Het
Ankrd29	T	G	18: 12,254,622	N301T	probably benign	Het
Arhgef4	A	G	1: 34,807,275	T379A	probably damaging	Het
Arid1a	A	G	4: 133,753,106	V169A	probably benign	Het
Armc4	G	A	18: 7,286,763	T156M	probably benign	Het
Bag2	T	C	1: 33,748,336		probably null	Het
Bmt2	A	C	6: 13,628,687	Y332*	probably null	Het
Bpifb1	A	T	2: 154,211,581	K248*	probably null	Het
Caap1	C	A	4: 94,556,514		probably null	Het
Calcr	T	A	6: 3,692,576	Y389F	probably damaging	Het
Capn1	C	T	19: 5,993,916	V562I	probably benign	Het
Ccr1	T	A	9: 123,963,948	T182S	probably benign	Het
Ceacam15	T	C	7: 16,673,334	D86G	probably benign	Het
Cldnd1	C	T	16: 58,729,643	T63I	probably benign	Het
Col12a1	A	T	9: 79,652,086		probably null	Het
Cystm1	A	G	18: 36,393,295		probably benign	Het
Ddx55	T	A	5: 124,566,965	Y428*	probably null	Het
Ensa	G	A	3: 95,631,434	G118D	probably benign	Het
Fam208b	G	A	13: 3,590,069	T356I	probably benign	Het
Folh1	A	T	7: 86,723,274		probably null	Het
Foxj2	C	A	6: 122,837,989	P328Q	probably damaging	Het
Fscn3	A	G	6: 28,435,628	I417V	probably damaging	Het
Galnt7	T	C	8: 57,542,727		probably benign	Het
Gm11563	T	A	11: 99,658,420	*169C	probably null	Het
Hfm1	A	T	5: 106,901,843	D417E	possibly damaging	Het
Ighv15-2	A	G	12: 114,564,610	S107P	probably damaging	Het
Itsn2	A	G	12: 4,661,944	D904G	probably damaging	Het
Kif1b	A	T	4: 149,237,882	L860*	probably null	Het
Krt79	T	C	15: 101,930,684	E450G	probably damaging	Het
Lama1	T	C	17: 67,738,780	S227P	probably damaging	Het
Lamp5	C	A	2: 136,060,866	H168Q	probably benign	Het
Lilra5	A	T	7: 4,242,077	Q240L	possibly damaging	Het
Lrp1	A	T	10: 127,549,944	C3521S	probably benign	Het
Mroh1	T	A	15: 76,408,530		probably null	Het
Nlrp4g	A	T	9: 124,349,515		noncoding transcript	Het
Nr2f6	A	T	8: 71,378,535	I70N	probably benign	Het
Nr4a2	T	A	2: 57,110,151	D311V	probably damaging	Het
Olfr1490	T	A	19: 13,655,386	M319K	probably benign	Het
Olfr248	T	C	1: 174,391,876	L269P	probably damaging	Het
Olfr659	T	A	7: 104,671,504	F267L	probably damaging	Het
Pcdhb6	C	A	18: 37,335,373	A449D	possibly damaging	Het
Pcgf6	A	G	19: 47,048,106		probably null	Het
Prc1	C	A	7: 80,313,163	H131Q	probably benign	Het
Ptprq	C	A	10: 107,524,253	R2187L	probably damaging	Het
Rasl2-9	C	A	7: 5,125,703	R76L	possibly damaging	Het
Rdh16f1	A	T	10: 127,790,816	Y246F	probably benign	Het
Rit1	T	C	3: 88,717,675		probably benign	Het
Sash1	A	G	10: 8,729,908	V906A	probably benign	Het
Scnn1b	T	C	7: 121,902,286	V108A	probably benign	Het
Sema4f	A	T	6: 82,918,284	I356N	probably damaging	Het
Shc4	A	T	2: 125,649,277	L447Q	probably damaging	Het
Slc24a1	T	C	9: 64,949,476	M50V	unknown	Het
Slc28a3	T	A	13: 58,574,263	D269V	possibly damaging	Het
Slc35e1	A	G	8: 72,492,322	S89P	possibly damaging	Het
Smpd5	T	A	15: 76,294,808	H125Q	probably benign	Het
Snapc2	A	G	8: 4,254,578	T31A	probably damaging	Het
Sox5	G	C	6: 143,833,488	H606D	possibly damaging	Het
Spag6	A	G	2: 18,737,296	T367A	possibly damaging	Het
Spag8	T	C	4: 43,651,636	T413A	probably damaging	Het
Sptlc3	G	A	2: 139,547,167	G156R	probably damaging	Het
Stx19	A	G	16: 62,822,420	T200A	probably benign	Het
Tas2r116	A	G	6: 132,855,705	T90A	probably benign	Het
Tbl3	A	G	17: 24,705,330		probably benign	Het
Tekt5	G	T	16: 10,395,194	P76T	probably damaging	Het
Tjp2	C	T	19: 24,096,666	E1086K	possibly damaging	Het
Topbp1	T	C	9: 103,323,571	L601P	probably damaging	Het
Trav16	T	A	14: 53,743,477	M41K	possibly damaging	Het
Trav6-5	C	A	14: 53,491,503	N72K	probably benign	Het
Trpm3	C	G	19: 22,715,295	T250S	possibly damaging	Het
Vps35	A	T	8: 85,261,262	D753E	probably benign	Het
Vstm2a	A	T	11: 16,263,061	N149Y	probably damaging	Het
Vwa2	G	T	19: 56,906,886	M497I	probably benign	Het
Zfat	C	A	15: 68,180,374	V517L	probably benign	Het
Zfp672	T	C	11: 58,329,498		probably benign	Het
Zranb1	T	C	7: 132,972,714	V420A	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
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
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'- CGGGACACTGGTAAGGTTTC -3'
(R):5'- AAGGGTACGCTCATGAGACATC -3'

Sequencing Primer
(F):5'- GGACACTGGTAAGGTTTCTCCCAC -3'
(R):5'- TACGCTCATGAGACATCAGAAG -3'

Posted On

2015-11-11