Mutagenetix > Incidental Mutations

Incidental Mutation 'R1482:Zfp687'

164429

Institutional Source

Beutler Lab

Gene Symbol

Zfp687

Ensembl Gene

ENSMUSG00000019338

Gene Name

zinc finger protein 687

Synonyms

4931408L03Rik

MMRRC Submission

039535-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.675) question?

Stock #

R1482 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95006590-95015448 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95007533 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1219 (F1219S)

Ref Sequence

ENSEMBL: ENSMUSP00000019482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019482] [ENSMUST00000072287] [ENSMUST00000107251] [ENSMUST00000125476] [ENSMUST00000128438] [ENSMUST00000132195] [ENSMUST00000133297] [ENSMUST00000137799] [ENSMUST00000149747] [ENSMUST00000167008]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019482
AA Change: F1219S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: F1219S

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	170	186	N/A	INTRINSIC
low complexity region	296	306	N/A	INTRINSIC
low complexity region	312	325	N/A	INTRINSIC
ZnF_C2H2	533	553	4.74e1	SMART
ZnF_C2H2	561	585	1.43e1	SMART
low complexity region	615	634	N/A	INTRINSIC
low complexity region	639	667	N/A	INTRINSIC
ZnF_C2H2	673	693	7.37e1	SMART
ZnF_C2H2	705	727	1.99e0	SMART
ZnF_C2H2	733	757	3.38e1	SMART
ZnF_C2H2	764	787	2.67e-1	SMART
ZnF_C2H2	792	815	4.4e-2	SMART
ZnF_C2H2	827	849	7.67e-2	SMART
ZnF_C2H2	858	881	2.36e-2	SMART
low complexity region	884	898	N/A	INTRINSIC
low complexity region	914	938	N/A	INTRINSIC
ZnF_C2H2	964	987	4.05e-1	SMART
ZnF_C2H2	994	1017	1.38e-3	SMART
ZnF_C2H2	1024	1050	4.65e-1	SMART
low complexity region	1057	1075	N/A	INTRINSIC
low complexity region	1100	1114	N/A	INTRINSIC
ZnF_C2H2	1135	1158	4.98e-1	SMART
ZnF_C2H2	1200	1222	1.82e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000072287

SMART Domains

Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
SCOP:d1e8xa1	140	231	5e-22	SMART
PI3Kc	545	799	6.47e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107251

SMART Domains

Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
SCOP:d1e8xa1	140	231	5e-22	SMART
PI3Kc	560	814	6.47e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125476

SMART Domains

Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
low complexity region	22	43	N/A	INTRINSIC
SCOP:d1e8xa1	152	243	5e-22	SMART
PI3Kc	572	826	6.47e-105	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126222

Predicted Effect

probably benign
Transcript: ENSMUST00000128438

SMART Domains

Protein: ENSMUSP00000119354
Gene: ENSMUSG00000019338

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132195

SMART Domains

Protein: ENSMUSP00000117308
Gene: ENSMUSG00000019338

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	170	186	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133166

Predicted Effect

probably benign
Transcript: ENSMUST00000133297

SMART Domains

Protein: ENSMUSP00000123529
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
PI3Kc	1	225	7.13e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133494

Predicted Effect

probably benign
Transcript: ENSMUST00000137799

SMART Domains

Protein: ENSMUSP00000123335
Gene: ENSMUSG00000019338

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	170	186	N/A	INTRINSIC
low complexity region	296	306	N/A	INTRINSIC
low complexity region	312	325	N/A	INTRINSIC
ZnF_C2H2	533	553	4.74e1	SMART
ZnF_C2H2	561	585	1.43e1	SMART
low complexity region	615	634	N/A	INTRINSIC
low complexity region	639	667	N/A	INTRINSIC
ZnF_C2H2	673	693	7.37e1	SMART
ZnF_C2H2	705	727	1.99e0	SMART
ZnF_C2H2	733	757	3.38e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147022

Predicted Effect

probably benign
Transcript: ENSMUST00000149747

SMART Domains

Protein: ENSMUSP00000116053
Gene: ENSMUSG00000019338

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167008

SMART Domains

Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
PI3Kc	228	482	6.47e-105	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183540

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 83.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	G	A	19: 3,717,192	D260N	probably benign	Het
AI314180	T	C	4: 58,820,163	K1217E	possibly damaging	Het
Ankef1	A	T	2: 136,550,158	K422N	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Aqp6	A	T	15: 99,604,307	*294C	probably null	Het
Baz2a	T	A	10: 128,109,008	M38K	possibly damaging	Het
Bcl2l14	A	G	6: 134,427,302	D151G	probably damaging	Het
Cabp5	T	A	7: 13,398,342	L12*	probably null	Het
Cachd1	T	C	4: 100,988,598	V993A	possibly damaging	Het
Cd44	G	A	2: 102,831,383	T306I	probably damaging	Het
Cdc20	A	T	4: 118,437,056	N22K	probably benign	Het
Cdc6	T	A	11: 98,916,981	D433E	possibly damaging	Het
Clhc1	A	G	11: 29,553,725	D47G	probably damaging	Het
Csf2	T	C	11: 54,248,563	K65E	probably benign	Het
Cul9	T	C	17: 46,508,547	E2005G	probably damaging	Het
Dclk3	G	T	9: 111,467,820	R144L	possibly damaging	Het
Dcpp2	C	T	17: 23,900,542	T110I	probably damaging	Het
Disp1	A	T	1: 183,086,474	F1461I	possibly damaging	Het
Dnah1	C	T	14: 31,294,874	G1562D	probably damaging	Het
Exoc3l2	C	A	7: 19,495,359	P234Q	probably damaging	Het
F2rl2	T	C	13: 95,701,539	V364A	probably benign	Het
Fam151a	T	C	4: 106,745,679	L265P	probably damaging	Het
Fam151b	T	A	13: 92,450,166	Q253L	probably benign	Het
Fat1	G	A	8: 44,953,244	V1011M	probably benign	Het
Fbxo6	G	A	4: 148,145,984	R274*	probably null	Het
Fgd4	G	T	16: 16,484,473	Q73K	probably benign	Het
Fth1	A	G	19: 9,984,853	T154A	probably benign	Het
Hgs	C	A	11: 120,480,040	H572Q	probably benign	Het
Kcnk10	G	A	12: 98,489,948	T208I	probably damaging	Het
Kdm5b	G	A	1: 134,624,897	V1204M	probably damaging	Het
Keg1	A	C	19: 12,718,821	H166P	probably damaging	Het
Kifap3	A	T	1: 163,825,859	N338I	possibly damaging	Het
Llcfc1	A	T	6: 41,685,284	D74V	probably damaging	Het
Lman2	A	G	13: 55,351,405	V219A	possibly damaging	Het
Mettl25	A	G	10: 105,826,590	I173T	possibly damaging	Het
Mov10	G	T	3: 104,804,546	P170Q	probably damaging	Het
Mtif2	G	T	11: 29,536,847	A286S	probably damaging	Het
Mtmr10	A	G	7: 64,314,249	Y244C	probably damaging	Het
Nbea	A	T	3: 56,079,993	C359S	probably damaging	Het
Nbr1	C	T	11: 101,572,841	T633I	probably benign	Het
Nepn	A	T	10: 52,400,416	T22S	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Oacyl	T	A	18: 65,737,972	L342M	probably damaging	Het
Olfr691	T	A	7: 105,337,256	R153S	probably damaging	Het
Olfr699	A	G	7: 106,790,333	F223L	probably benign	Het
Olfr775	T	A	10: 129,251,143	I203N	possibly damaging	Het
Olfr872	G	A	9: 20,260,724	V295I	possibly damaging	Het
Oxnad1	T	C	14: 32,099,633		probably null	Het
Pard3b	A	T	1: 62,166,367	D440V	probably damaging	Het
Pou3f2	T	G	4: 22,486,960	D391A	possibly damaging	Het
Ptprk	T	C	10: 28,263,516	V79A	probably benign	Het
Rwdd2a	A	G	9: 86,574,278	D169G	probably damaging	Het
Scn3b	A	C	9: 40,279,496	D74A	probably damaging	Het
Setbp1	C	T	18: 79,086,835	D61N	probably damaging	Het
Setx	T	A	2: 29,162,992	D2089E	probably damaging	Het
Vmn2r69	C	G	7: 85,406,874	W685C	probably damaging	Het
Vps8	A	G	16: 21,581,598	Q1272R	probably benign	Het
Wnk4	T	C	11: 101,269,636	F699L	probably damaging	Het
Zfp616	T	A	11: 74,083,977	N448K	possibly damaging	Het
Zfp618	C	A	4: 63,115,448	D307E	possibly damaging	Het
Zfpm2	T	A	15: 41,099,291	D248E	probably damaging	Het

Other mutations in Zfp687

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Zfp687	APN	3	95012416	missense	probably damaging	1.00
IGL00510:Zfp687	APN	3	95008447	missense	probably damaging	1.00
IGL00824:Zfp687	APN	3	95009185	missense	probably damaging	1.00
IGL01861:Zfp687	APN	3	95011860	missense	probably damaging	1.00
IGL02167:Zfp687	APN	3	95010530	missense	probably benign
IGL02169:Zfp687	APN	3	95011432	missense	probably damaging	1.00
IGL02260:Zfp687	APN	3	95011264	missense	possibly damaging	0.92
IGL02539:Zfp687	APN	3	95011062	missense	probably damaging	0.99
IGL02710:Zfp687	APN	3	95008773	missense	probably benign	0.01
IGL02891:Zfp687	APN	3	95011946	missense	probably damaging	0.97
IGL03186:Zfp687	APN	3	95011094	missense	probably benign
R0006:Zfp687	UTSW	3	95011456	missense	probably damaging	0.99
R0006:Zfp687	UTSW	3	95011456	missense	probably damaging	0.99
R0243:Zfp687	UTSW	3	95011553	missense	probably damaging	0.99
R0556:Zfp687	UTSW	3	95010408	missense	probably damaging	1.00
R1111:Zfp687	UTSW	3	95009512	missense	probably damaging	1.00
R1170:Zfp687	UTSW	3	95008473	missense	probably damaging	1.00
R1236:Zfp687	UTSW	3	95012044	missense	probably benign	0.01
R1711:Zfp687	UTSW	3	95011889	missense	probably benign	0.00
R2255:Zfp687	UTSW	3	95010437	missense	probably damaging	1.00
R3763:Zfp687	UTSW	3	95012080	missense	probably damaging	1.00
R3848:Zfp687	UTSW	3	95007914	missense	probably damaging	1.00
R3850:Zfp687	UTSW	3	95007914	missense	probably damaging	1.00
R4424:Zfp687	UTSW	3	95009128	missense	probably damaging	1.00
R4630:Zfp687	UTSW	3	95012488	splice site	probably null
R4989:Zfp687	UTSW	3	95010386	missense	probably damaging	1.00
R5119:Zfp687	UTSW	3	95011676	missense	probably benign	0.28
R5134:Zfp687	UTSW	3	95010386	missense	probably damaging	1.00
R5249:Zfp687	UTSW	3	95009466	missense	probably damaging	1.00
R5408:Zfp687	UTSW	3	95009275	unclassified	probably benign
R5454:Zfp687	UTSW	3	95009146	missense	probably damaging	1.00
R5732:Zfp687	UTSW	3	95011217	missense	possibly damaging	0.50
R5883:Zfp687	UTSW	3	95012044	missense	probably benign	0.01
R6342:Zfp687	UTSW	3	95011877	missense	probably benign	0.01
R6395:Zfp687	UTSW	3	95007738	missense	possibly damaging	0.48
R6463:Zfp687	UTSW	3	95010784	missense	probably damaging	1.00
R6575:Zfp687	UTSW	3	95008389	missense	probably damaging	1.00
R6972:Zfp687	UTSW	3	95009377	missense	possibly damaging	0.65
R6973:Zfp687	UTSW	3	95009377	missense	possibly damaging	0.65
R7087:Zfp687	UTSW	3	95010213	missense	probably benign	0.08
R7407:Zfp687	UTSW	3	95007530	missense	probably damaging	1.00
R7408:Zfp687	UTSW	3	95007530	missense	probably damaging	1.00
R7483:Zfp687	UTSW	3	95007530	missense	probably damaging	1.00
R7492:Zfp687	UTSW	3	95007530	missense	probably damaging	1.00
R7514:Zfp687	UTSW	3	95007530	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAATCCTCAAAAGCCTGTCCCTCAG -3'
(R):5'- ACTCAGCAGTGCCTTGACTGTG -3'

Sequencing Primer
(F):5'- TCCCTCAGGGATAGAGAAAGAAG -3'
(R):5'- CGGTTCATTAGCCACAAGAAG -3'

Posted On

2014-03-28