Mutagenetix > Incidental Mutation

Incidental Mutation 'R0200:Zfp217'

23541

Institutional Source

Beutler Lab

Gene Symbol

Zfp217

Ensembl Gene

ENSMUSG00000052056

Gene Name

zinc finger protein 217

Synonyms

4933431C08Rik

MMRRC Submission

038457-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R0200 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

170108643-170148103 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 170115462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 539 (A539T)

Ref Sequence

ENSEMBL: ENSMUSP00000104783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063710] [ENSMUST00000109155]

AlphaFold

Q3U0X6

Predicted Effect

probably benign
Transcript: ENSMUST00000063710
AA Change: A539T

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056
AA Change: A539T

Domain	Start	End	E-Value	Type
ZnF_C2H2	57	80	1.64e-1	SMART
ZnF_C2H2	121	143	9.58e-3	SMART
ZnF_C2H2	149	171	1.47e-3	SMART
ZnF_C2H2	208	230	2.91e-2	SMART
low complexity region	333	348	N/A	INTRINSIC
ZnF_C2H2	383	405	1.53e-1	SMART
low complexity region	437	455	N/A	INTRINSIC
ZnF_C2H2	478	500	1.36e-2	SMART
ZnF_C2H2	506	528	9.58e-3	SMART
ZnF_C2H2	704	727	2.29e0	SMART
low complexity region	854	874	N/A	INTRINSIC
low complexity region	947	960	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109155
AA Change: A539T

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056
AA Change: A539T

Domain	Start	End	E-Value	Type
ZnF_C2H2	57	80	1.64e-1	SMART
ZnF_C2H2	121	143	9.58e-3	SMART
ZnF_C2H2	149	171	1.47e-3	SMART
ZnF_C2H2	208	230	2.91e-2	SMART
low complexity region	333	348	N/A	INTRINSIC
ZnF_C2H2	383	405	1.53e-1	SMART
low complexity region	437	455	N/A	INTRINSIC
ZnF_C2H2	478	500	1.36e-2	SMART
ZnF_C2H2	506	528	9.58e-3	SMART
ZnF_C2H2	704	727	2.29e0	SMART
low complexity region	854	874	N/A	INTRINSIC
low complexity region	947	960	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149088

Meta Mutation Damage Score

0.1431

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Aatf	T	C	11: 84,445,676	K466E	probably damaging	Het
Abcc3	T	C	11: 94,355,074	D1245G	probably damaging	Het
Adam12	T	C	7: 133,974,416		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ank1	T	G	8: 23,096,812	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,441,966	S402G	possibly damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,979,814	Q107*	probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Cacng3	T	A	7: 122,671,785	C4*	probably null	Het
Ccdc129	T	C	6: 55,897,956	L297P	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cecr2	T	G	6: 120,761,797	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,480,720	V17A	probably benign	Het
Col20a1	T	C	2: 181,000,438	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,261,776	M156K	possibly damaging	Het
Defb25	C	A	2: 152,622,412	V71L	probably benign	Het
Dhx35	A	T	2: 158,829,623	M325L	probably benign	Het
Dhx57	A	T	17: 80,251,473	L1019H	probably damaging	Het
Dnah6	T	A	6: 73,069,420	D3195V	probably damaging	Het
Dph5	A	G	3: 115,928,703	S277G	probably benign	Het
Dpm1	C	A	2: 168,223,155		probably null	Het
Dsg1a	A	T	18: 20,340,938	M1023L	probably benign	Het
Egf	A	G	3: 129,706,233	Y252H	probably benign	Het
Egf	A	G	3: 129,737,549	S126P	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,361,040	Y455C	probably damaging	Het
Gm14085	T	A	2: 122,527,447	*661R	probably null	Het
Iars	A	T	13: 49,726,202	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,634,676	G325V	probably damaging	Het
Il1rl1	T	A	1: 40,441,303	W31R	possibly damaging	Het
Ip6k3	C	T	17: 27,145,025	D350N	probably damaging	Het
Irgc1	T	C	7: 24,432,006	D462G	probably benign	Het
Jph3	A	G	8: 121,784,833	E520G	probably benign	Het
Kcna2	T	A	3: 107,105,160	D352E	probably benign	Het
Klk4	T	A	7: 43,885,361	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,985,297	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,970,690		probably null	Het
Lhpp	C	T	7: 132,610,677		probably benign	Het
Lypd3	T	A	7: 24,640,231	V241D	probably damaging	Het
Lyz2	T	A	10: 117,280,773	N57Y	possibly damaging	Het
Man1a	A	G	10: 54,074,498	V176A	probably damaging	Het
Mcm4	G	A	16: 15,629,639	T487I	probably benign	Het
Mettl21c	T	A	1: 44,013,654	I68F	probably damaging	Het
Miip	T	A	4: 147,862,263	T313S	probably damaging	Het
Mog	A	T	17: 37,012,419	I209K	probably damaging	Het
Myo1c	C	A	11: 75,672,182	D997E	probably benign	Het
Npc1	T	C	18: 12,219,204	Y146C	probably damaging	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr231	T	C	1: 174,117,512	H168R	probably benign	Het
Olfr531	T	C	7: 140,400,875	Y57C	probably damaging	Het
Olfr56	T	A	11: 49,135,047	M285K	probably damaging	Het
Opa1	A	G	16: 29,614,129	N544S	probably benign	Het
Pam	C	T	1: 97,894,401		probably null	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Plxdc1	T	C	11: 97,934,012	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,323,593	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,197,088	V1191M	probably damaging	Het
Polk	T	A	13: 96,496,822	N238Y	probably benign	Het
Ptprq	T	C	10: 107,685,157	N718S	probably benign	Het
Rsrc1	A	T	3: 67,180,861	H176L	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,483,831	K238R	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Slc12a4	T	C	8: 105,951,617	R315G	probably benign	Het
Slc16a10	A	G	10: 40,040,616	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spata7	T	A	12: 98,663,169	S332T	probably benign	Het
Spsb1	A	G	4: 149,898,216	*274R	probably null	Het
Sspo	T	G	6: 48,486,415	V3767G	probably null	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Tgm6	T	A	2: 130,152,945		probably null	Het
Them7	A	C	2: 105,297,917	N81T	probably damaging	Het
Tinag	C	A	9: 76,951,935	A464S	probably damaging	Het
Tmem217	T	G	17: 29,526,310	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,795,683	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,432,099	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,544,380	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,883,818	M242T	probably benign	Het
Xkr4	T	C	1: 3,670,663	N229S	probably benign	Het
Zcchc2	T	A	1: 106,004,123	L352M	probably damaging	Het
Zfp638	T	C	6: 83,967,354	L1018P	probably damaging	Het

Other mutations in Zfp217

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Zfp217	APN	2	170115149	missense	probably benign
IGL02412:Zfp217	APN	2	170112502	utr 3 prime	probably benign
IGL02435:Zfp217	APN	2	170119453	missense	possibly damaging	0.56
IGL03152:Zfp217	APN	2	170119052	missense	probably damaging	1.00
PIT4581001:Zfp217	UTSW	2	170114583	missense	probably benign	0.01
R0107:Zfp217	UTSW	2	170114874	nonsense	probably null
R0109:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
R0109:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
R0110:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
R0180:Zfp217	UTSW	2	170120137	missense	probably damaging	1.00
R0279:Zfp217	UTSW	2	170119780	missense	probably benign	0.28
R0395:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
R0396:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
R0453:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
R0510:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
R0512:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
R0513:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
R0653:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
R1549:Zfp217	UTSW	2	170114470	missense	probably benign	0.00
R3420:Zfp217	UTSW	2	170120017	missense	possibly damaging	0.90
R3421:Zfp217	UTSW	2	170120017	missense	possibly damaging	0.90
R3422:Zfp217	UTSW	2	170120017	missense	possibly damaging	0.90
R3726:Zfp217	UTSW	2	170119210	missense	probably damaging	0.96
R3731:Zfp217	UTSW	2	170114388	missense	probably benign	0.31
R3926:Zfp217	UTSW	2	170112518	missense	probably damaging	1.00
R4051:Zfp217	UTSW	2	170112616	critical splice acceptor site	probably null
R4289:Zfp217	UTSW	2	170114787	missense	probably benign	0.01
R4606:Zfp217	UTSW	2	170119750	missense	possibly damaging	0.67
R4948:Zfp217	UTSW	2	170119210	missense	probably damaging	0.96
R5113:Zfp217	UTSW	2	170114058	splice site	probably null
R5734:Zfp217	UTSW	2	170119144	missense	possibly damaging	0.57
R6228:Zfp217	UTSW	2	170119577	missense	probably benign	0.01
R6452:Zfp217	UTSW	2	170119294	missense	probably benign
R6782:Zfp217	UTSW	2	170116258	missense	probably damaging	1.00
R7212:Zfp217	UTSW	2	170114152	missense	probably benign	0.41
R8094:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8095:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8119:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8120:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8134:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8136:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8150:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8151:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8152:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8343:Zfp217	UTSW	2	170120104	missense	probably damaging	1.00
R8394:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8395:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8396:Zfp217	UTSW	2	170119651	missense	possibly damaging	0.82
R8885:Zfp217	UTSW	2	170114471	missense	probably benign	0.00
R8970:Zfp217	UTSW	2	170115077	missense	possibly damaging	0.61
R9631:Zfp217	UTSW	2	170114870	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGCATGTCCAGATAAGTAGGGGCAG -3'
(R):5'- AGGGAACAGCCCATGTTTGGTG -3'

Sequencing Primer
(F):5'- ATGGAAATCCTGAGTATCGTTGC -3'
(R):5'- CATAGCTTGCTTAGCTTGCAGAG -3'

Posted On

2013-04-16