Mutagenetix > Incidental Mutations

Incidental Mutation 'R6342:Zfp687'

513910

Institutional Source

Beutler Lab

Gene Symbol

Zfp687

Ensembl Gene

ENSMUSG00000019338

Gene Name

zinc finger protein 687

Synonyms

4931408L03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

R6342 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95006590-95015448 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 95011877 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 195 (P195A)

Ref Sequence

ENSEMBL: ENSMUSP00000117308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019482] [ENSMUST00000128438] [ENSMUST00000132195] [ENSMUST00000137799] [ENSMUST00000149747]

Predicted Effect

probably benign
Transcript: ENSMUST00000019482
AA Change: P195A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: P195A

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

noncoding transcript
Transcript: ENSMUST00000126222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128160

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
AA Change: P195A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117308
Gene: ENSMUSG00000019338
AA Change: P195A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137799
AA Change: P195A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123335
Gene: ENSMUSG00000019338
AA Change: P195A

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: 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

noncoding transcript
Transcript: ENSMUST00000151207

Meta Mutation Damage Score

0.0760

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

97% (31/32)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa9	T	C	3: 95,296,790	*346W	probably null	Het
Ap4b1	T	C	3: 103,813,368	V118A	possibly damaging	Het
Atrnl1	T	C	19: 57,638,510	S183P	probably damaging	Het
Cadm3	T	C	1: 173,341,108	T298A	possibly damaging	Het
Crtc1	A	C	8: 70,439,557	M1R	probably null	Het
Dalrd3	A	T	9: 108,571,123	K291*	probably null	Het
Dhrs9	C	T	2: 69,393,187	T93M	probably benign	Het
Dnmt1	G	T	9: 20,909,793	S1267*	probably null	Het
Dsg1b	T	C	18: 20,390,243	I109T	probably damaging	Het
Epha3	C	A	16: 63,583,500	R745L	probably damaging	Het
Evi2	A	G	11: 79,515,958	S264P	probably benign	Het
Grin2a	A	T	16: 9,579,334	L963Q	probably damaging	Het
Klhdc7a	T	A	4: 139,967,059	R192S	probably benign	Het
Kynu	G	T	2: 43,681,451	D460Y	probably benign	Het
Lrfn2	G	A	17: 49,097,000	G717D	probably benign	Het
Lrp3	C	T	7: 35,202,306	D696N	probably benign	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr586	T	C	7: 103,122,356	T143A	probably damaging	Het
Rad17	A	T	13: 100,619,136	I579N	probably damaging	Het
Rif1	T	A	2: 52,119,156	Y2316N	probably damaging	Het
Ros1	T	A	10: 52,155,255	D430V	probably damaging	Het
Rp9	A	T	9: 22,449,858	H44Q	probably damaging	Het
Rtl1	T	C	12: 109,592,301	T1035A	possibly damaging	Het
Slc2a5	A	C	4: 150,139,526	D225A	possibly damaging	Het
Tlx3	A	T	11: 33,202,567	V176E	possibly damaging	Het
Trpv3	G	A	11: 73,283,863	G352D	probably damaging	Het
Ubr4	C	A	4: 139,429,539	H2292N	possibly damaging	Het
Wee2	A	G	6: 40,444,255	H93R	probably benign	Het
Xirp2	T	G	2: 67,511,650	L1412V	possibly damaging	Het
Zfat	T	C	15: 68,180,982	H321R	probably damaging	Het
Zfp623	C	A	15: 75,947,988	C264*	probably null	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
R1482:Zfp687	UTSW	3	95007533	missense	probably damaging	1.00
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
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'- AGACTGCTTGAAGGACACCC -3'
(R):5'- ACACAGTGTGTCCAGAGCAG -3'

Sequencing Primer
(F):5'- TTGAAGGACACCCCAGCC -3'
(R):5'- AGCCTGACTGGGGATTCAG -3'

Posted On

2018-04-27