Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Zfp687'

398749

Institutional Source

Beutler Lab

Gene Symbol

Zfp687

Ensembl Gene

ENSMUSG00000019338

Gene Name

zinc finger protein 687

Synonyms

4931408L03Rik

MMRRC Submission

042820-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.654) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94913901-94922759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94916777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 783 (I783N)

Ref Sequence

ENSEMBL: ENSMUSP00000019482 (fasta)

Gene Model

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

AlphaFold

Q9D2D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019482
AA Change: I783N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: I783N

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: ENSMUST00000147022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143287

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: 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

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

probably benign
Transcript: ENSMUST00000133297

SMART Domains

Protein: ENSMUSP00000123529
Gene: ENSMUSG00000038861

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

Meta Mutation Damage Score

0.7550

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,284 (GRCm39)	H148R	probably damaging	Het
Acrbp	A	G	6: 125,037,885 (GRCm39)	D394G	probably damaging	Het
Adam18	T	C	8: 25,115,868 (GRCm39)	T609A	probably benign	Het
Adam25	T	A	8: 41,208,991 (GRCm39)	N752K	probably benign	Het
Ano6	A	C	15: 95,811,469 (GRCm39)	S176R	probably benign	Het
Ano7	T	C	1: 93,302,918 (GRCm39)	S19P	probably benign	Het
Ap1b1	A	G	11: 4,976,364 (GRCm39)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,095,982 (GRCm39)	C46*	probably null	Het
Arhgef26	T	A	3: 62,247,981 (GRCm39)	L355Q	probably damaging	Het
B4galnt4	C	T	7: 140,644,983 (GRCm39)	T219I	probably damaging	Het
Bap1	C	T	14: 30,979,243 (GRCm39)		probably benign	Het
Catip	T	G	1: 74,401,954 (GRCm39)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,805,282 (GRCm39)	R331C	unknown	Het
Cep85l	T	C	10: 53,195,690 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm39)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,800,368 (GRCm39)	C352R	probably damaging	Het
Clic6	A	T	16: 92,336,339 (GRCm39)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,270,034 (GRCm39)		probably benign	Het
Cyb5r3	A	C	15: 83,042,836 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,090,471 (GRCm39)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,890,879 (GRCm39)	R296L	probably damaging	Het
Dtwd1	C	A	2: 125,996,694 (GRCm39)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,352,443 (GRCm39)	V723L	probably benign	Het
Fbxo42	T	C	4: 140,926,335 (GRCm39)	L339P	probably damaging	Het
Furin	A	T	7: 80,043,169 (GRCm39)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,522,522 (GRCm39)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,896 (GRCm39)	D207G	probably damaging	Het
Hlf	A	G	11: 90,278,632 (GRCm39)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,648 (GRCm39)	Q174*	probably null	Het
Kcnb1	T	A	2: 166,947,103 (GRCm39)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm39)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,604,032 (GRCm39)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,096,966 (GRCm39)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,906,875 (GRCm39)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,045,196 (GRCm39)	V372L	probably benign	Het
Lig1	C	T	7: 13,042,432 (GRCm39)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,111,988 (GRCm39)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,582,275 (GRCm39)	H10Y	probably benign	Het
Med1	A	T	11: 98,048,066 (GRCm39)	M910K	probably benign	Het
Mia2	A	T	12: 59,154,911 (GRCm39)	D209V	probably damaging	Het
Mpp4	C	T	1: 59,184,017 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,225 (GRCm39)	V229E	possibly damaging	Het
Mtor	T	A	4: 148,548,189 (GRCm39)	C485S	probably damaging	Het
Mx1	T	C	16: 97,258,628 (GRCm39)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,619,138 (GRCm39)	D740G	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nav2	G	A	7: 49,185,661 (GRCm39)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,110,914 (GRCm39)	N262K	possibly damaging	Het
Opa1	A	T	16: 29,437,077 (GRCm39)	D699V	probably damaging	Het
Or10u4	C	T	10: 129,802,078 (GRCm39)	A164T	probably benign	Het
Or8b51	A	G	9: 38,569,374 (GRCm39)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,407,181 (GRCm39)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,320,950 (GRCm39)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,346,421 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,058,822 (GRCm39)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,777,406 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,535,496 (GRCm39)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,490,125 (GRCm39)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,241,841 (GRCm39)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,413,943 (GRCm39)	E23G	probably benign	Het
Rpia	G	T	6: 70,760,563 (GRCm39)	C121*	probably null	Het
Sanbr	A	G	11: 23,525,483 (GRCm39)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,926,427 (GRCm39)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,065,456 (GRCm39)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,055,858 (GRCm39)		probably benign	Het
Slamf6	A	C	1: 171,764,249 (GRCm39)	N214T	probably damaging	Het
Slc7a2	T	C	8: 41,361,130 (GRCm39)	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,312,971 (GRCm39)		probably null	Het
Spink7	A	T	18: 62,725,507 (GRCm39)	F79I	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Sspo	A	T	6: 48,470,244 (GRCm39)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,653,793 (GRCm39)	K700R	probably benign	Het
Tcf25	G	T	8: 124,115,372 (GRCm39)	R203L	probably damaging	Het
Tcp11	T	C	17: 28,290,757 (GRCm39)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,437,615 (GRCm39)	D685G	unknown	Het
Themis	G	T	10: 28,637,195 (GRCm39)	E100*	probably null	Het
Tmem52b	G	A	6: 129,491,221 (GRCm39)		probably null	Het
Tnr	C	T	1: 159,512,226 (GRCm39)		probably benign	Het
Tox3	T	C	8: 90,975,444 (GRCm39)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm39)	E269V	probably benign	Het
Tulp1	C	T	17: 28,581,651 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ube2j2	A	C	4: 156,033,515 (GRCm39)	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,369,807 (GRCm39)	M1K	probably null	Het
Vmn2r52	C	A	7: 9,910,197 (GRCm39)	R6L	probably benign	Het
Zbed4	G	A	15: 88,665,290 (GRCm39)	V453M	probably benign	Het
Zfp319	T	C	8: 96,055,099 (GRCm39)	E368G	probably benign	Het
Zfp366	A	C	13: 99,366,117 (GRCm39)	E426A	probably damaging	Het

Other mutations in Zfp687

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Zfp687	APN	3	94,919,727 (GRCm39)	missense	probably damaging	1.00
IGL00510:Zfp687	APN	3	94,915,758 (GRCm39)	missense	probably damaging	1.00
IGL00824:Zfp687	APN	3	94,916,496 (GRCm39)	missense	probably damaging	1.00
IGL01861:Zfp687	APN	3	94,919,171 (GRCm39)	missense	probably damaging	1.00
IGL02167:Zfp687	APN	3	94,917,841 (GRCm39)	missense	probably benign
IGL02169:Zfp687	APN	3	94,918,743 (GRCm39)	missense	probably damaging	1.00
IGL02260:Zfp687	APN	3	94,918,575 (GRCm39)	missense	possibly damaging	0.92
IGL02539:Zfp687	APN	3	94,918,373 (GRCm39)	missense	probably damaging	0.99
IGL02710:Zfp687	APN	3	94,916,084 (GRCm39)	missense	probably benign	0.01
IGL02891:Zfp687	APN	3	94,919,257 (GRCm39)	missense	probably damaging	0.97
IGL03186:Zfp687	APN	3	94,918,405 (GRCm39)	missense	probably benign
R0006:Zfp687	UTSW	3	94,918,767 (GRCm39)	missense	probably damaging	0.99
R0006:Zfp687	UTSW	3	94,918,767 (GRCm39)	missense	probably damaging	0.99
R0243:Zfp687	UTSW	3	94,918,864 (GRCm39)	missense	probably damaging	0.99
R0556:Zfp687	UTSW	3	94,917,719 (GRCm39)	missense	probably damaging	1.00
R1111:Zfp687	UTSW	3	94,916,823 (GRCm39)	missense	probably damaging	1.00
R1170:Zfp687	UTSW	3	94,915,784 (GRCm39)	missense	probably damaging	1.00
R1236:Zfp687	UTSW	3	94,919,355 (GRCm39)	missense	probably benign	0.01
R1482:Zfp687	UTSW	3	94,914,844 (GRCm39)	missense	probably damaging	1.00
R1711:Zfp687	UTSW	3	94,919,200 (GRCm39)	missense	probably benign	0.00
R2255:Zfp687	UTSW	3	94,917,748 (GRCm39)	missense	probably damaging	1.00
R3763:Zfp687	UTSW	3	94,919,391 (GRCm39)	missense	probably damaging	1.00
R3848:Zfp687	UTSW	3	94,915,225 (GRCm39)	missense	probably damaging	1.00
R3850:Zfp687	UTSW	3	94,915,225 (GRCm39)	missense	probably damaging	1.00
R4424:Zfp687	UTSW	3	94,916,439 (GRCm39)	missense	probably damaging	1.00
R4630:Zfp687	UTSW	3	94,919,799 (GRCm39)	splice site	probably null
R4989:Zfp687	UTSW	3	94,917,697 (GRCm39)	missense	probably damaging	1.00
R5119:Zfp687	UTSW	3	94,918,987 (GRCm39)	missense	probably benign	0.28
R5134:Zfp687	UTSW	3	94,917,697 (GRCm39)	missense	probably damaging	1.00
R5408:Zfp687	UTSW	3	94,916,586 (GRCm39)	unclassified	probably benign
R5454:Zfp687	UTSW	3	94,916,457 (GRCm39)	missense	probably damaging	1.00
R5732:Zfp687	UTSW	3	94,918,528 (GRCm39)	missense	possibly damaging	0.50
R5883:Zfp687	UTSW	3	94,919,355 (GRCm39)	missense	probably benign	0.01
R6342:Zfp687	UTSW	3	94,919,188 (GRCm39)	missense	probably benign	0.01
R6395:Zfp687	UTSW	3	94,915,049 (GRCm39)	missense	possibly damaging	0.48
R6463:Zfp687	UTSW	3	94,918,095 (GRCm39)	missense	probably damaging	1.00
R6575:Zfp687	UTSW	3	94,915,700 (GRCm39)	missense	probably damaging	1.00
R6972:Zfp687	UTSW	3	94,916,688 (GRCm39)	missense	possibly damaging	0.65
R6973:Zfp687	UTSW	3	94,916,688 (GRCm39)	missense	possibly damaging	0.65
R7087:Zfp687	UTSW	3	94,917,524 (GRCm39)	missense	probably benign	0.08
R7407:Zfp687	UTSW	3	94,914,841 (GRCm39)	missense	probably damaging	1.00
R7408:Zfp687	UTSW	3	94,914,841 (GRCm39)	missense	probably damaging	1.00
R7483:Zfp687	UTSW	3	94,914,841 (GRCm39)	missense	probably damaging	1.00
R7492:Zfp687	UTSW	3	94,914,841 (GRCm39)	missense	probably damaging	1.00
R7514:Zfp687	UTSW	3	94,914,841 (GRCm39)	missense	probably damaging	1.00
R7849:Zfp687	UTSW	3	94,917,673 (GRCm39)	missense	possibly damaging	0.65
R8438:Zfp687	UTSW	3	94,915,433 (GRCm39)	missense	probably benign	0.10
R9542:Zfp687	UTSW	3	94,916,442 (GRCm39)	missense	probably damaging	1.00
R9786:Zfp687	UTSW	3	94,919,768 (GRCm39)	start codon destroyed	probably null	0.96
Z1176:Zfp687	UTSW	3	94,915,012 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATGGGTGATAGCAGTCCAC -3'
(R):5'- TTCTCAGACCTCTCTTGGGG -3'

Sequencing Primer
(F):5'- GGTGATAGCAGTCCACCACCC -3'
(R):5'- TCAGACCTCTCTTGGGGACTGAG -3'

Posted On

2016-07-06