Mutagenetix > Incidental Mutations

Incidental Mutation 'R8136:Zfp217'

632246

Institutional Source

Beutler Lab

Gene Symbol

Zfp217

Ensembl Gene

ENSMUSG00000052056

Gene Name

zinc finger protein 217

Synonyms

4933431C08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R8136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170108643-170148103 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 170119651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 252 (S252F)

Ref Sequence

ENSEMBL: ENSMUSP00000067334 (fasta)

Gene Model

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

AlphaFold

Q3U0X6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063710
AA Change: S252F

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056
AA Change: S252F

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

possibly damaging
Transcript: ENSMUST00000109155
AA Change: S252F

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056
AA Change: S252F

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

Meta Mutation Damage Score

0.0933

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.7%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,248,397	M2462L	probably benign	Het
Aptx	A	G	4: 40,688,107		probably null	Het
Bmpr1b	A	G	3: 141,856,382	I348T	probably damaging	Het
Btnl1	T	A	17: 34,380,040		probably null	Het
Col27a1	T	A	4: 63,283,953	D960E	probably benign	Het
Crygn	G	T	5: 24,751,092	R172S	probably benign	Het
Cyp26a1	T	C	19: 37,701,206	I450T	probably benign	Het
Emc2	A	G	15: 43,511,806	Y233C	probably benign	Het
Esyt2	C	A	12: 116,363,459	T549K	probably benign	Het
Fam71e1	T	C	7: 44,500,280	F142L	probably damaging	Het
Gatm	T	C	2: 122,595,537	D411G	probably damaging	Het
Gpr65	T	C	12: 98,275,156	Y23H	probably damaging	Het
Itpr1	A	G	6: 108,438,360	R1752G	probably benign	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Mcm9	A	G	10: 53,611,343	*543Q	probably null	Het
Mfsd2a	A	T	4: 122,951,867	C164S	probably benign	Het
Mta1	C	A	12: 113,131,678	R484S	probably damaging	Het
Nlrp9a	T	G	7: 26,557,253	F99V	probably benign	Het
Notch2	G	A	3: 98,124,221	C1137Y	probably damaging	Het
Olfr575	A	T	7: 102,955,241	M120K	probably damaging	Het
Pcnx	A	G	12: 81,918,006	T316A	probably benign	Het
Phf11a	A	G	14: 59,277,569	V221A	probably benign	Het
Pigb	A	G	9: 73,022,320	L327P	possibly damaging	Het
Rab3c	A	T	13: 110,181,020	Y110*	probably null	Het
Sdk2	G	A	11: 113,851,713	T790M	probably damaging	Het
Slc22a2	C	T	17: 12,606,030	P260S	probably damaging	Het
Sppl2a	T	C	2: 126,913,281		probably null	Het
Tmem189	A	C	2: 167,644,959	Y167D	probably benign	Het
Tnn	T	A	1: 160,107,060	Q1261L	probably damaging	Het
Treml4	C	A	17: 48,264,717	Y49*	probably null	Het
Ttc37	A	G	13: 76,113,103	K131R	probably benign	Het
Ubr3	T	C	2: 70,021,179	I1827T	probably damaging	Het
Vrtn	C	T	12: 84,650,035	R520C	probably damaging	Het
Wipf1	G	A	2: 73,437,535	P173L	possibly damaging	Het
Wls	C	A	3: 159,873,124	Q108K	probably damaging	Het
Zfp39	A	T	11: 58,891,402	V178D	probably damaging	Het
Zfp777	C	A	6: 48,044,625	R21L	probably benign	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
R0200:Zfp217	UTSW	2	170115462	missense	probably benign	0.31
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTCTGAGCATGAGTCGTC -3'
(R):5'- TCAATGAAGTGGTCCAGCCG -3'

Sequencing Primer
(F):5'- CTCTGAGCATGAGTCGTCATTGTC -3'
(R):5'- TCATTGAGCACAGCAAGG -3'

Posted On

2020-06-30