Mutagenetix > Incidental Mutations

Incidental Mutation 'R5837:Zfp677'

449677

Institutional Source

Beutler Lab

Gene Symbol

Zfp677

Ensembl Gene

ENSMUSG00000062743

Gene Name

zinc finger protein 677

Synonyms

A830058L05Rik

MMRRC Submission

044057-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R5837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21383748-21399265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21397386 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 235 (H235L)

Ref Sequence

ENSEMBL: ENSMUSP00000125295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056107] [ENSMUST00000162659]

Predicted Effect

probably damaging
Transcript: ENSMUST00000056107
AA Change: H235L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052667
Gene: ENSMUSG00000062743
AA Change: H235L

Domain	Start	End	E-Value	Type
KRAB	13	75	1.11e-21	SMART
ZnF_C2H2	185	207	2.95e-3	SMART
ZnF_C2H2	213	235	3.95e-4	SMART
ZnF_C2H2	241	263	2.09e-3	SMART
ZnF_C2H2	269	291	6.42e-4	SMART
ZnF_C2H2	297	319	5.5e-3	SMART
ZnF_C2H2	325	347	1.98e-4	SMART
ZnF_C2H2	353	375	1.98e-4	SMART
ZnF_C2H2	381	403	1.47e-3	SMART
ZnF_C2H2	409	431	1.28e-3	SMART
ZnF_C2H2	437	459	3.95e-4	SMART
ZnF_C2H2	465	487	1.04e-3	SMART
ZnF_C2H2	493	515	8.47e-4	SMART
ZnF_C2H2	521	543	7.49e-5	SMART
ZnF_C2H2	549	571	1.18e-2	SMART
ZnF_C2H2	577	599	6.08e-5	SMART
ZnF_C2H2	610	632	4.17e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162659
AA Change: H235L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125295
Gene: ENSMUSG00000062743
AA Change: H235L

Domain	Start	End	E-Value	Type
KRAB	13	75	1.11e-21	SMART
Pfam:zf-H2C2_2	118	140	2.9e-5	PFAM
ZnF_C2H2	185	207	2.95e-3	SMART
ZnF_C2H2	213	235	3.95e-4	SMART
ZnF_C2H2	241	263	2.09e-3	SMART
ZnF_C2H2	269	291	6.42e-4	SMART
ZnF_C2H2	297	319	5.5e-3	SMART
ZnF_C2H2	325	347	1.98e-4	SMART
ZnF_C2H2	353	375	1.98e-4	SMART
ZnF_C2H2	381	403	1.47e-3	SMART
ZnF_C2H2	409	431	1.28e-3	SMART
ZnF_C2H2	437	459	3.95e-4	SMART
ZnF_C2H2	465	487	1.04e-3	SMART
ZnF_C2H2	493	515	8.47e-4	SMART
ZnF_C2H2	521	543	7.49e-5	SMART
ZnF_C2H2	549	571	1.18e-2	SMART
ZnF_C2H2	577	599	6.08e-5	SMART
ZnF_C2H2	610	632	4.17e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232365

Meta Mutation Damage Score

0.6210

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,433,359	R113Q	probably benign	Het
Ank1	A	G	8: 23,104,790	N605D	probably damaging	Het
Apob	A	G	12: 8,003,277	M1240V	probably benign	Het
Atf1	T	A	15: 100,254,384	I86N	probably damaging	Het
Best1	T	A	19: 9,989,119		probably null	Het
Bet1l	C	A	7: 140,854,781	R51L	probably benign	Het
Bpifa5	A	G	2: 154,163,678	Y60C	probably damaging	Het
Ccdc141	G	T	2: 77,108,437	Q275K	possibly damaging	Het
Cep295	T	A	9: 15,346,984	H241L	probably damaging	Het
Commd7	A	G	2: 153,629,224	V36A	possibly damaging	Het
Cyld	G	A	8: 88,741,404	S555N	probably damaging	Het
Cyp2j13	A	T	4: 96,071,682	I79N	probably damaging	Het
Dact2	A	G	17: 14,196,253	S562P	probably damaging	Het
Diexf	A	T	1: 193,118,393	F373Y	probably damaging	Het
Dnajc13	T	A	9: 104,176,666	I1664F	possibly damaging	Het
Ehmt1	A	G	2: 24,863,914	V277A	probably damaging	Het
Fbn1	A	T	2: 125,379,134		probably null	Het
Galnt6	G	A	15: 100,694,646	T560M	possibly damaging	Het
Glra1	G	T	11: 55,536,507		probably null	Het
Gm10762	C	T	2: 128,967,157		probably benign	Het
Greb1	C	T	12: 16,688,585	R1459H	probably damaging	Het
Ift140	A	G	17: 25,089,540	K1048E	probably damaging	Het
Ilk	T	C	7: 105,741,171		probably null	Het
Lgi4	C	T	7: 31,070,783		probably benign	Het
Loxhd1	A	G	18: 77,286,409	T59A	possibly damaging	Het
Lzic	G	T	4: 149,486,000		probably null	Het
Mef2d	A	G	3: 88,161,781	T286A	probably benign	Het
Mycbp2	C	A	14: 103,124,403	C4447F	probably damaging	Het
Ncoa2	A	G	1: 13,224,706		probably benign	Het
Nolc1	T	C	19: 46,083,183		probably benign	Het
Npl	T	C	1: 153,503,525	T271A	probably benign	Het
Nudt1	A	G	5: 140,334,540	R25G	probably damaging	Het
Nudt19	T	C	7: 35,551,636	E226G	possibly damaging	Het
Oc90	T	C	15: 65,876,446	D405G	probably benign	Het
Olfr1111	A	T	2: 87,150,355	F102Y	probably benign	Het
Olfr1491	T	A	19: 13,704,960	C44*	probably null	Het
Olfr376	A	G	11: 73,375,648	M300V	probably benign	Het
Olfr826	A	T	10: 130,180,397	L161H	probably damaging	Het
Pcdhb1	T	C	18: 37,265,827	I277T	possibly damaging	Het
Pcdhb9	C	A	18: 37,402,798	A615E	probably damaging	Het
Phrf1	C	G	7: 141,260,061	D1056E	probably benign	Het
Phyhip	C	A	14: 70,467,010	A223E	probably damaging	Het
Polr2h	T	A	16: 20,717,932	I4N	probably damaging	Het
Ppp1r12c	C	A	7: 4,497,404		probably benign	Het
Pramef6	A	G	4: 143,896,920	V228A	probably benign	Het
Psg17	T	A	7: 18,820,215	T37S	possibly damaging	Het
Ptprz1	T	C	6: 23,001,418	V1169A	probably benign	Het
Rabgap1l	T	C	1: 160,307,222		probably benign	Het
Rapgef3	C	T	15: 97,757,342		probably benign	Het
Rbp3	C	A	14: 33,954,273	H59Q	probably benign	Het
Robo3	T	A	9: 37,429,816		probably null	Het
Slco4c1	C	T	1: 96,818,982	E712K	probably benign	Het
Ssh3	T	C	19: 4,266,400	T168A	probably benign	Het
Stoml2	G	T	4: 43,028,989	N248K	probably damaging	Het
Tmigd1	A	G	11: 76,916,085		probably benign	Het
Tnc	T	A	4: 64,013,214	D753V	probably damaging	Het
Tnik	A	T	3: 28,668,053		probably benign	Het
Treml1	A	G	17: 48,360,152	S22G	possibly damaging	Het
Trmt2a	C	T	16: 18,249,462		probably benign	Het
Ttn	T	C	2: 76,717,374	T32151A	probably damaging	Het
Vmn1r67	T	C	7: 10,447,022	I10T	probably benign	Het
Vmn2r116	T	C	17: 23,387,080	F322S	probably damaging	Het
Wdr19	A	G	5: 65,202,957	D35G	probably benign	Het
Zfp365	A	T	10: 67,889,040	H339Q	probably damaging	Het
Zpbp2	G	A	11: 98,551,271		probably benign	Het

Other mutations in Zfp677

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Zfp677	APN	17	21397668	missense	probably benign	0.33
IGL01973:Zfp677	APN	17	21396907	missense	probably damaging	1.00
IGL02206:Zfp677	APN	17	21393237	missense	probably damaging	1.00
IGL03240:Zfp677	APN	17	21396873	missense	probably damaging	0.99
IGL03409:Zfp677	APN	17	21396845	missense	probably damaging	1.00
R0622:Zfp677	UTSW	17	21397700	missense	probably benign	0.04
R0972:Zfp677	UTSW	17	21398310	missense	probably damaging	1.00
R1519:Zfp677	UTSW	17	21397237	missense	possibly damaging	0.91
R2155:Zfp677	UTSW	17	21397708	missense	probably benign	0.01
R2316:Zfp677	UTSW	17	21397320	missense	probably benign	0.38
R2866:Zfp677	UTSW	17	21397256	nonsense	probably null
R2989:Zfp677	UTSW	17	21396852	missense	probably benign	0.11
R3955:Zfp677	UTSW	17	21397817	missense	possibly damaging	0.95
R4075:Zfp677	UTSW	17	21398159	missense	probably damaging	1.00
R4134:Zfp677	UTSW	17	21397781	missense	probably benign	0.01
R4229:Zfp677	UTSW	17	21398282	missense	probably damaging	1.00
R4729:Zfp677	UTSW	17	21397418	missense	possibly damaging	0.51
R4843:Zfp677	UTSW	17	21392526	missense	probably benign	0.23
R5023:Zfp677	UTSW	17	21397794	missense	probably damaging	1.00
R5316:Zfp677	UTSW	17	21397148	missense	probably damaging	0.99
R5420:Zfp677	UTSW	17	21397913	missense	probably damaging	1.00
R5694:Zfp677	UTSW	17	21397759	missense	probably damaging	0.99
R5888:Zfp677	UTSW	17	21398258	missense	probably damaging	1.00
R6007:Zfp677	UTSW	17	21397656	missense	probably damaging	1.00
R6119:Zfp677	UTSW	17	21397808	missense	possibly damaging	0.55
R6190:Zfp677	UTSW	17	21397268	missense	possibly damaging	0.91
R6518:Zfp677	UTSW	17	21398130	missense	probably damaging	1.00
R7198:Zfp677	UTSW	17	21398417	missense	probably damaging	1.00
R7391:Zfp677	UTSW	17	21398391	missense	possibly damaging	0.56
R7801:Zfp677	UTSW	17	21398015	missense	probably damaging	1.00
R7808:Zfp677	UTSW	17	21397385	missense	probably damaging	1.00
R8202:Zfp677	UTSW	17	21393273	missense	probably damaging	1.00
R8206:Zfp677	UTSW	17	21392455	splice site	probably null
RF003:Zfp677	UTSW	17	21397442	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCTACACACAGACTGATGC -3'
(R):5'- CATTGCACGTGTAGGGTTTCTCTC -3'

Sequencing Primer
(F):5'- CTGATGCAACAAATAAACTACATTGG -3'
(R):5'- CACGTGTAGGGTTTCTCTCCAGTATG -3'

Posted On

2016-12-20