Mutagenetix > Incidental Mutation

Incidental Mutation 'R4719:Zfp169'

354321

Institutional Source

Beutler Lab

Gene Symbol

Zfp169

Ensembl Gene

ENSMUSG00000050954

Gene Name

zinc finger protein 169

Synonyms

MMRRC Submission

041957-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4719 (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 48490158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 498 (I498V)

Ref Sequence

ENSEMBL: ENSMUSP00000135414 (fasta)

Gene Model

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

AlphaFold

E9Q3R6

Predicted Effect

probably benign
Transcript: ENSMUST00000110110
AA Change: I498V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105737
Gene: ENSMUSG00000050954
AA Change: I498V

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

probably benign
Transcript: ENSMUST00000177530
AA Change: I498V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135414
Gene: ENSMUSG00000050954
AA Change: I498V

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (76/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,259,627	Y971C	probably damaging	Het
Actr5	T	A	2: 158,626,513	S188T	probably damaging	Het
Adamtsl4	A	G	3: 95,679,586		probably null	Het
Agbl2	A	G	2: 90,815,389	N822S	probably benign	Het
Ankdd1b	T	A	13: 96,417,747		probably benign	Het
Arhgef40	C	T	14: 52,004,938		probably benign	Het
Art5	A	G	7: 102,098,494		probably null	Het
Cacna1s	T	C	1: 136,118,652		probably benign	Het
Car9	G	A	4: 43,508,616	W42*	probably null	Het
Cdh20	T	C	1: 104,934,310	Y72H	probably damaging	Het
Ces1g	T	C	8: 93,317,090	D407G	possibly damaging	Het
Cngb3	T	A	4: 19,309,562	D73E	probably benign	Het
Col6a4	A	T	9: 106,068,252	F888I	probably damaging	Het
Dgat2	T	C	7: 99,158,297	D222G	probably benign	Het
Dscaml1	T	C	9: 45,672,695	M486T	probably benign	Het
Faim2	C	T	15: 99,527,579		probably null	Het
Fam173b	T	G	15: 31,608,097	V98G	probably damaging	Het
Fance	T	C	17: 28,318,319		probably benign	Het
Fancm	G	T	12: 65,121,706	M1614I	possibly damaging	Het
Fcrl5	A	T	3: 87,444,189	N248I	probably damaging	Het
Foxo3	G	A	10: 42,197,778	R29W	probably damaging	Het
Gabbr2	A	G	4: 46,718,797	Y74H	probably damaging	Het
Gatd1	A	C	7: 141,411,068	D55E	probably benign	Het
Gpr152	C	A	19: 4,143,224	Q255K	possibly damaging	Het
Havcr1	A	G	11: 46,752,441	T63A	probably benign	Het
Hltf	T	C	3: 20,064,701		probably null	Het
Ifit3b	A	T	19: 34,612,630	Q402L	probably damaging	Het
Ints3	A	G	3: 90,415,521	L134S	probably benign	Het
Kcna10	A	G	3: 107,194,901	T283A	probably benign	Het
Kmt2e	A	C	5: 23,492,315	R590S	probably damaging	Het
Lefty1	A	T	1: 180,937,712	N282Y	probably benign	Het
Loxl4	T	A	19: 42,607,591	Y141F	probably benign	Het
Lrrn2	T	C	1: 132,939,177	V660A	probably benign	Het
Lyst	T	C	13: 13,650,350	S1517P	probably benign	Het
Mcoln2	A	G	3: 146,175,713	H208R	probably benign	Het
Mdga2	C	T	12: 66,471,001		probably benign	Het
Mpp2	T	A	11: 102,064,433	E122V	possibly damaging	Het
Mrgprb5	T	C	7: 48,168,778	N70D	probably damaging	Het
Muc5ac	A	T	7: 141,789,763	E37D	possibly damaging	Het
Nbeal1	T	A	1: 60,235,563		probably null	Het
Ncoa6	T	C	2: 155,391,161		probably benign	Het
Nfib	C	A	4: 82,504,730		probably null	Het
Nostrin	G	T	2: 69,144,812	G24*	probably null	Het
Nudc	A	G	4: 133,533,265	Y293H	probably damaging	Het
Olfr643	T	A	7: 104,058,733	N290Y	probably damaging	Het
Pcmtd1	T	A	1: 7,155,101	Y41*	probably null	Het
Pigt	T	C	2: 164,501,624	L340P	probably damaging	Het
Pomgnt1	T	C	4: 116,155,775	Y420H	probably damaging	Het
Pramel6	C	T	2: 87,510,752	T476I	probably benign	Het
Ptprn2	T	A	12: 116,824,396	H118Q	possibly damaging	Het
Rasl10a	G	A	11: 5,058,517	S71N	probably benign	Het
Rnf213	A	G	11: 119,420,067	I804V	probably benign	Het
Rps4l-ps	T	C	7: 114,927,302		noncoding transcript	Het
Sash1	T	A	10: 8,729,713	H971L	probably benign	Het
Secisbp2	T	A	13: 51,652,732	F54L	possibly damaging	Het
Senp1	A	T	15: 98,056,850	H484Q	probably benign	Het
Slc12a1	T	C	2: 125,153,993	I22T	possibly damaging	Het
Slc25a36	A	G	9: 97,090,119		probably benign	Het
Srcap	T	A	7: 127,541,559	S1443T	probably benign	Het
Sv2c	T	C	13: 95,986,811	T385A	probably benign	Het
Tas2r131	T	A	6: 132,956,973	H291L	probably damaging	Het
Thbs3	A	G	3: 89,216,840	D80G	probably damaging	Het
Tnxb	C	T	17: 34,689,420	S1349L	probably damaging	Het
Toporsl	A	G	4: 52,611,996	R630G	probably benign	Het
Vmn1r43	C	A	6: 89,869,855	M216I	probably benign	Het
Wdr17	T	A	8: 54,639,876	E1068D	probably benign	Het
Wnt10a	G	A	1: 74,803,603	V413I	probably damaging	Het
Zfp141	T	C	7: 42,476,687		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
R4444:Zfp169	UTSW	13	48490337	missense	possibly damaging	0.94
R4665:Zfp169	UTSW	13	48490863	unclassified	probably benign
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'- GGTGAGGAGCGACTTAAACTC -3'
(R):5'- TTGGCCAAAAGGGTACGCTC -3'

Sequencing Primer
(F):5'- GCGACTTAAACTCAAAGGTGCGTC -3'
(R):5'- CATACCGGGGAGAAGCCTTTTG -3'

Posted On

2015-10-21