Mutagenetix > Incidental Mutation

Incidental Mutation 'R7492:Zfp687'

580822

Institutional Source

Beutler Lab

Gene Symbol

Zfp687

Ensembl Gene

ENSMUSG00000019338

Gene Name

zinc finger protein 687

Synonyms

4931408L03Rik

MMRRC Submission

045566-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.654) question?

Stock #

R7492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94913901-94922759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94914841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1220 (R1220H)

Ref Sequence

ENSEMBL: ENSMUSP00000019482 (fasta)

Gene Model

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

AlphaFold

Q9D2D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019482
AA Change: R1220H

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

SMART Domains

Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: R1220H

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

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

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

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,560 (GRCm39)	D819G	possibly damaging	Het
Abca13	A	T	11: 9,243,167 (GRCm39)	I1677L	probably benign	Het
Ablim2	A	G	5: 35,998,673 (GRCm39)	S367G	probably benign	Het
Afdn	G	C	17: 14,068,638 (GRCm39)		probably null	Het
Aldh6a1	A	G	12: 84,483,640 (GRCm39)	L302P	probably damaging	Het
Ank3	A	G	10: 69,718,357 (GRCm39)	D536G	unknown	Het
Ankrd17	A	G	5: 90,381,807 (GRCm39)	V2454A	possibly damaging	Het
Apol7e	G	A	15: 77,601,656 (GRCm39)	E85K	possibly damaging	Het
Atmin	A	G	8: 117,683,657 (GRCm39)	D439G	probably damaging	Het
AU040320	G	T	4: 126,741,648 (GRCm39)	C952F	possibly damaging	Het
Btbd8	G	A	5: 107,658,373 (GRCm39)	E1648K	probably benign	Het
C6	A	G	15: 4,761,196 (GRCm39)	S19G	probably benign	Het
Ccdc180	A	T	4: 45,930,009 (GRCm39)		probably null	Het
Cntn1	A	C	15: 92,212,423 (GRCm39)	T862P	probably benign	Het
Col5a1	T	C	2: 27,859,812 (GRCm39)		probably null	Het
D430041D05Rik	T	C	2: 104,031,650 (GRCm39)	K964E	probably damaging	Het
Dnajc18	T	C	18: 35,819,846 (GRCm39)	Y145C	probably damaging	Het
Dsc1	C	T	18: 20,240,737 (GRCm39)	C196Y	possibly damaging	Het
Efcab11	A	C	12: 99,844,660 (GRCm39)	I58R	possibly damaging	Het
Fam81b	T	A	13: 76,419,398 (GRCm39)	I51F	probably benign	Het
Fbln1	G	A	15: 85,111,262 (GRCm39)	V139M	probably damaging	Het
Fbxw25	A	G	9: 109,493,598 (GRCm39)		probably null	Het
Fech	C	T	18: 64,600,842 (GRCm39)	W220*	probably null	Het
Fgl1	C	T	8: 41,644,624 (GRCm39)	W293*	probably null	Het
Firrm	A	G	1: 163,786,897 (GRCm39)	I724T	probably benign	Het
Foxi2	T	C	7: 135,012,301 (GRCm39)	L63P	probably damaging	Het
Frmpd1	A	G	4: 45,285,237 (GRCm39)	R1353G	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Galnt5	T	A	2: 57,916,048 (GRCm39)		probably null	Het
Glb1	A	T	9: 114,303,017 (GRCm39)	I618F	probably damaging	Het
Hs2st1	A	T	3: 144,141,357 (GRCm39)	M237K	probably benign	Het
Ighm	T	C	12: 113,386,293 (GRCm39)	D19G		Het
Il1f10	A	G	2: 24,182,829 (GRCm39)	D35G	probably benign	Het
Itpr2	G	A	6: 146,292,436 (GRCm39)	T419I	probably damaging	Het
Khdc1a	A	T	1: 21,420,542 (GRCm39)	E54V	possibly damaging	Het
Kif19a	A	G	11: 114,681,065 (GRCm39)	D991G	probably benign	Het
Klhl18	A	C	9: 110,257,843 (GRCm39)	Y532*	probably null	Het
Lama1	T	C	17: 68,124,646 (GRCm39)	F2902S		Het
Lrba	T	C	3: 86,571,835 (GRCm39)	S2380P	probably damaging	Het
Lrp2	T	A	2: 69,367,925 (GRCm39)	I196F	probably damaging	Het
Macf1	T	C	4: 123,369,524 (GRCm39)	K1746E	possibly damaging	Het
Megf10	T	C	18: 57,424,866 (GRCm39)	Y1002H	probably benign	Het
Megf8	A	G	7: 25,053,273 (GRCm39)	T1815A	probably benign	Het
Mtg1	T	C	7: 139,724,610 (GRCm39)	L162P	probably damaging	Het
Myo6	T	A	9: 80,195,328 (GRCm39)	Y899*	probably null	Het
Nlrp9a	A	T	7: 26,257,081 (GRCm39)	D233V	probably damaging	Het
Or10al6	A	T	17: 38,082,571 (GRCm39)	Q9L	possibly damaging	Het
Or2z2	T	A	11: 58,346,715 (GRCm39)	N20I	probably benign	Het
Or4k45	C	A	2: 111,395,166 (GRCm39)	V208L	probably benign	Het
Or6c201	T	A	10: 128,969,509 (GRCm39)	I43F	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,063 (GRCm39)	N284I	unknown	Het
Parvb	A	T	15: 84,174,651 (GRCm39)	Q148L	probably damaging	Het
Pcdhb11	C	T	18: 37,556,497 (GRCm39)	T609M	probably damaging	Het
Pcdhga3	A	T	18: 37,809,178 (GRCm39)	T544S	probably benign	Het
Pkd1	C	G	17: 24,788,715 (GRCm39)	I824M	probably benign	Het
Pkd1l2	A	T	8: 117,794,849 (GRCm39)	L370Q	probably damaging	Het
Plcb1	G	T	2: 135,093,684 (GRCm39)	E166*	probably null	Het
Pnpt1	A	G	11: 29,085,522 (GRCm39)	I138V	probably benign	Het
Pou4f3	T	C	18: 42,528,996 (GRCm39)	L313P	probably damaging	Het
Pramel21	C	A	4: 143,342,744 (GRCm39)	Q284K	not run	Het
Prep	A	G	10: 44,996,910 (GRCm39)	Y396C	probably damaging	Het
Prkd3	A	T	17: 79,269,974 (GRCm39)	C562*	probably null	Het
Prss12	T	A	3: 123,276,425 (GRCm39)	C351*	probably null	Het
Rnf41	C	A	10: 128,274,283 (GRCm39)	H312N	probably damaging	Het
Ror1	C	T	4: 100,298,256 (GRCm39)	T543I	probably benign	Het
Rreb1	G	A	13: 38,115,724 (GRCm39)	V1028I	probably benign	Het
Setd2	T	A	9: 110,423,700 (GRCm39)	S474T		Het
Slc1a2	T	A	2: 102,570,275 (GRCm39)	C184*	probably null	Het
Slc2a4	G	A	11: 69,837,202 (GRCm39)	T78I	probably benign	Het
Slc4a4	T	A	5: 89,277,509 (GRCm39)	I317N	possibly damaging	Het
Smad9	G	A	3: 54,693,747 (GRCm39)		probably null	Het
Sst	T	C	16: 23,708,576 (GRCm39)	E85G	probably damaging	Het
Sting1	T	C	18: 35,871,766 (GRCm39)	Y162C	probably damaging	Het
Svep1	T	G	4: 58,066,468 (GRCm39)	E3205D	possibly damaging	Het
Tmc7	G	T	7: 118,141,189 (GRCm39)	S647R	probably benign	Het
Trnt1	T	C	6: 106,751,493 (GRCm39)	S157P	possibly damaging	Het
Ttc6	A	T	12: 57,719,922 (GRCm39)	H831L	probably benign	Het
Vmn1r121	A	G	7: 20,832,095 (GRCm39)	F115S	probably damaging	Het
Vwa7	A	G	17: 35,238,020 (GRCm39)	D207G	possibly damaging	Het
Vwde	C	A	6: 13,204,980 (GRCm39)	K300N	probably null	Het
Zfp418	A	G	7: 7,184,396 (GRCm39)	T120A	possibly 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
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
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'- GGGGTGCAAGTCACTAGAATCC -3'
(R):5'- CGGTTCATTAGCCACAAGAAG -3'

Sequencing Primer
(F):5'- GTGCAAGTCACTAGAATCCTCAAAAG -3'
(R):5'- TTCATTAGCCACAAGAAGAGACG -3'

Posted On

2019-10-17