Mutagenetix > Incidental Mutation

Incidental Mutation 'R1711:Zfp687'

190531

Institutional Source

Beutler Lab

Gene Symbol

Zfp687

Ensembl Gene

ENSMUSG00000019338

Gene Name

zinc finger protein 687

Synonyms

4931408L03Rik

MMRRC Submission

039744-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.654) question?

Stock #

R1711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94913901-94922759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94919200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 191 (M191V)

Ref Sequence

ENSEMBL: ENSMUSP00000117308 (fasta)

Gene Model

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

AlphaFold

Q9D2D7

Predicted Effect

probably benign
Transcript: ENSMUST00000019482
AA Change: M191V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: M191V

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: M191V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000117308
Gene: ENSMUSG00000019338
AA Change: M191V

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: M191V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123335
Gene: ENSMUSG00000019338
AA Change: M191V

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: ENSMUST00000151207

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,418,039 (GRCm39)	T741I	possibly damaging	Het
Aadacl4fm2	A	T	4: 144,281,976 (GRCm39)	I272K	probably damaging	Het
Acot3	A	T	12: 84,100,347 (GRCm39)	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165 (GRCm39)	Q398*	probably null	Het
Adgrb2	C	A	4: 129,886,417 (GRCm39)	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,495,171 (GRCm39)		probably null	Het
Ap3s2	A	T	7: 79,530,238 (GRCm39)	F192L	probably damaging	Het
Apobr	T	G	7: 126,184,151 (GRCm39)		probably null	Het
Arhgap5	A	G	12: 52,566,128 (GRCm39)	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947 (GRCm39)	R219S	probably damaging	Het
Bves	C	T	10: 45,223,961 (GRCm39)	T207M	probably damaging	Het
Cacna1d	T	C	14: 29,788,013 (GRCm39)	K1619R	probably damaging	Het
Caps2	A	T	10: 112,026,883 (GRCm39)	D223V	possibly damaging	Het
Cd3g	A	C	9: 44,885,640 (GRCm39)	L35R	probably damaging	Het
Cdh23	A	T	10: 60,359,315 (GRCm39)	V261E	probably benign	Het
Cfap54	T	G	10: 92,846,882 (GRCm39)	T1028P	probably damaging	Het
Ch25h	C	A	19: 34,451,686 (GRCm39)	V281L	probably benign	Het
Cip2a	A	C	16: 48,837,849 (GRCm39)	I850L	probably benign	Het
Clu	G	T	14: 66,218,354 (GRCm39)	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,757,935 (GRCm39)	H6Q	probably damaging	Het
Cps1	G	A	1: 67,207,533 (GRCm39)		probably null	Het
Ctr9	T	C	7: 110,654,870 (GRCm39)	S1134P	unknown	Het
Cts7	C	T	13: 61,500,624 (GRCm39)	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,555,335 (GRCm39)	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,517,919 (GRCm39)	D596E	probably benign	Het
Disc1	T	A	8: 125,851,349 (GRCm39)	I413K	probably benign	Het
Dll3	C	T	7: 27,993,922 (GRCm39)	G505D	probably damaging	Het
Dnah3	A	G	7: 119,677,794 (GRCm39)	W377R	probably damaging	Het
Dop1b	A	G	16: 93,596,814 (GRCm39)	D1792G	probably damaging	Het
Dpep3	T	A	8: 106,700,325 (GRCm39)	R460S	probably benign	Het
Ebf4	A	G	2: 130,200,751 (GRCm39)	N302S	probably damaging	Het
Efcab3	A	G	11: 104,611,514 (GRCm39)	K452R	probably benign	Het
Egflam	T	C	15: 7,319,396 (GRCm39)	E194G	possibly damaging	Het
Ep400	A	T	5: 110,841,174 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,248,133 (GRCm39)	M228T	probably damaging	Het
Fbxo9	T	C	9: 77,994,529 (GRCm39)	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,364,721 (GRCm39)	P486T	possibly damaging	Het
Fyb1	T	C	15: 6,609,960 (GRCm39)	F178L	probably damaging	Het
Gaa	T	A	11: 119,171,286 (GRCm39)	I646N	probably damaging	Het
Gm5431	A	T	11: 48,785,853 (GRCm39)	V174E	possibly damaging	Het
Gnpat	T	G	8: 125,613,691 (GRCm39)		probably null	Het
Gucy1a2	G	T	9: 3,759,622 (GRCm39)	R476I	probably benign	Het
Hars1	A	G	18: 36,904,156 (GRCm39)	L241P	probably damaging	Het
Haus5	G	A	7: 30,357,328 (GRCm39)	Q399*	probably null	Het
Hephl1	T	C	9: 14,970,542 (GRCm39)	E984G	probably damaging	Het
Hmces	C	T	6: 87,898,574 (GRCm39)	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,530,389 (GRCm39)	T490K	probably damaging	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Ipo13	G	T	4: 117,761,719 (GRCm39)	H465Q	probably benign	Het
Isca2	C	A	12: 84,820,393 (GRCm39)	T31K	probably damaging	Het
Itga9	T	C	9: 118,527,529 (GRCm39)	V560A	probably benign	Het
Jhy	G	A	9: 40,822,453 (GRCm39)	Q562*	probably null	Het
Kcnj5	A	G	9: 32,233,865 (GRCm39)	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,752,918 (GRCm39)	I1419T	unknown	Het
Lix1	T	C	17: 17,666,320 (GRCm39)	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Map4k1	A	T	7: 28,688,777 (GRCm39)	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,791,342 (GRCm39)	G171S	probably damaging	Het
Mvp	C	A	7: 126,594,907 (GRCm39)		probably null	Het
Mylk3	T	A	8: 86,091,460 (GRCm39)	E115V	probably damaging	Het
Nebl	T	A	2: 17,393,565 (GRCm39)	T603S	probably damaging	Het
Nudt15	T	C	14: 73,760,776 (GRCm39)	D105G	probably benign	Het
Or12j2	A	C	7: 139,915,912 (GRCm39)	T46P	possibly damaging	Het
Or2w1b	G	A	13: 21,300,476 (GRCm39)	V205I	probably benign	Het
Or51b6	T	A	7: 103,555,906 (GRCm39)	W87R	probably damaging	Het
Or52i2	G	T	7: 102,319,369 (GRCm39)	V81L	probably damaging	Het
Or52l1	A	T	7: 104,829,967 (GRCm39)	H199Q	probably damaging	Het
Or8g2b	A	G	9: 39,751,581 (GRCm39)	M284V	probably benign	Het
Osbpl9	A	T	4: 108,923,415 (GRCm39)	C495S	probably damaging	Het
Pamr1	A	G	2: 102,471,197 (GRCm39)	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,536,380 (GRCm39)	C791*	probably null	Het
Pcgf6	T	C	19: 47,038,957 (GRCm39)	E101G	probably damaging	Het
Pdgfrl	A	T	8: 41,438,831 (GRCm39)	I256F	probably benign	Het
Pdzd7	T	C	19: 45,033,950 (GRCm39)	R45G	possibly damaging	Het
Pecr	C	T	1: 72,316,568 (GRCm39)	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,715 (GRCm39)		probably null	Het
Pik3c2a	A	T	7: 116,017,162 (GRCm39)	Y198*	probably null	Het
Pp2d1	T	A	17: 53,822,338 (GRCm39)	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,441,919 (GRCm39)	I50L	possibly damaging	Het
Proc	T	C	18: 32,260,459 (GRCm39)	D222G	probably benign	Het
Ptprq	T	A	10: 107,370,560 (GRCm39)	R2044*	probably null	Het
Ranbp2	T	C	10: 58,296,341 (GRCm39)	V326A	probably benign	Het
Reep6	T	A	10: 80,169,815 (GRCm39)	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,663,471 (GRCm39)	R388S	probably damaging	Het
Rusc1	A	G	3: 88,996,600 (GRCm39)	L62P	probably damaging	Het
Satb2	T	C	1: 56,889,448 (GRCm39)	N423S	probably damaging	Het
Scart1	G	T	7: 139,800,522 (GRCm39)	C101F	probably damaging	Het
Serpinb9d	A	G	13: 33,384,731 (GRCm39)	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709 (GRCm38)	R680G	probably benign	Het
Slitrk1	T	A	14: 109,150,528 (GRCm39)	Y61F	probably benign	Het
Son	A	G	16: 91,457,114 (GRCm39)		probably benign	Het
Sparc	T	A	11: 55,286,602 (GRCm39)		probably null	Het
Spon2	A	G	5: 33,373,729 (GRCm39)	F194S	probably damaging	Het
Spta1	A	G	1: 174,068,608 (GRCm39)	E2136G	probably damaging	Het
Stat4	T	C	1: 52,146,084 (GRCm39)	S746P	probably damaging	Het
Stk31	T	A	6: 49,446,238 (GRCm39)	S958R	probably benign	Het
Stom	T	A	2: 35,205,929 (GRCm39)	I267F	probably damaging	Het
Stx12	A	T	4: 132,585,788 (GRCm39)	D197E	probably damaging	Het
Taok3	A	T	5: 117,393,991 (GRCm39)	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658 (GRCm39)	D657G	probably damaging	Het
Trim6	A	G	7: 103,882,044 (GRCm39)	T432A	probably damaging	Het
Trim72	C	G	7: 127,603,757 (GRCm39)	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,499,664 (GRCm39)	I286N	probably benign	Het
Ttn	A	G	2: 76,693,905 (GRCm39)	V321A	possibly damaging	Het
Utp4	T	A	8: 107,645,352 (GRCm39)	I583N	probably damaging	Het
Wdfy2	G	T	14: 63,181,546 (GRCm39)	M225I	probably benign	Het
Wfdc1	A	G	8: 120,407,776 (GRCm39)	T134A	probably benign	Het
Wnt9b	A	G	11: 103,622,954 (GRCm39)	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,053,477 (GRCm39)	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,491,492 (GRCm39)	R240H	probably benign	Het
Zfp11	A	T	5: 129,733,737 (GRCm39)	Y575N	probably benign	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
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
R5249:Zfp687	UTSW	3	94,916,777 (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'- TCCTGGAGACTGCTTGAAGGACAC -3'
(R):5'- TGAGAATGACCCTGAGAGTCCAGC -3'

Sequencing Primer
(F):5'- TGCTTGAAGGACACCCCAG -3'
(R):5'- CAGTCAGCGTCATTGTCAAG -3'

Posted On

2014-05-14