Mutagenetix > Incidental Mutation

Incidental Mutation 'R5113:Zfp217'

394002

Institutional Source

Beutler Lab

Gene Symbol

Zfp217

Ensembl Gene

ENSMUSG00000052056

Gene Name

zinc finger protein 217

Synonyms

4933431C08Rik

MMRRC Submission

042701-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R5113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170108643-170148103 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 170114058 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104783 (fasta)

Gene Model

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

AlphaFold

Q3U0X6

Predicted Effect

probably null
Transcript: ENSMUST00000063710

SMART Domains

Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056

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 null
Transcript: ENSMUST00000109155

SMART Domains

Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,315,995	V622A	possibly damaging	Het
Ankef1	A	G	2: 136,552,441	N590S	probably benign	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ano3	A	T	2: 110,661,480	N867K	possibly damaging	Het
Ash1l	T	C	3: 89,066,275	V2547A	probably damaging	Het
Ccpg1os	T	A	9: 72,979,893	R111*	probably null	Het
Chil5	A	T	3: 106,017,978	V209E	possibly damaging	Het
Cltc	A	T	11: 86,722,321	C459S	probably damaging	Het
Col6a4	T	A	9: 106,066,960	D1105V	possibly damaging	Het
Cyp2c66	A	G	19: 39,163,438	D199G	probably benign	Het
Cyp4f18	A	G	8: 71,989,058		probably null	Het
Cysrt1	A	T	2: 25,239,351	C50S	possibly damaging	Het
Dapk1	A	G	13: 60,721,778	K278R	probably benign	Het
Eefsec	C	A	6: 88,281,575	S512I	probably damaging	Het
Emilin1	T	C	5: 30,920,620	F908L	possibly damaging	Het
Eml1	T	C	12: 108,537,337	V731A	possibly damaging	Het
Erc2	T	C	14: 27,652,872	S16P	probably benign	Het
Gfpt2	A	G	11: 49,823,799	R342G	probably damaging	Het
Gpr142	A	T	11: 114,804,317	Q36L	probably benign	Het
Grik5	A	G	7: 25,015,527	S681P	probably damaging	Het
Hecw1	A	T	13: 14,346,029	S208T	possibly damaging	Het
Hmgcr	G	A	13: 96,656,732	A464V	probably benign	Het
Igkv2-109	A	G	6: 68,303,085	T97A	possibly damaging	Het
Ino80	G	T	2: 119,431,945	Q687K	probably damaging	Het
Kdm4d	T	C	9: 14,464,113	N150D	probably damaging	Het
Klf4	A	G	4: 55,530,481	I210T	possibly damaging	Het
Klkb1	C	A	8: 45,270,697	Q560H	probably benign	Het
Lce1a2	A	T	3: 92,669,135	V40E	unknown	Het
Maob	T	C	X: 16,716,423	T400A	probably benign	Het
Mipol1	C	T	12: 57,496,499	T393I	probably benign	Het
Mst1	A	G	9: 108,082,247	D244G	probably damaging	Het
Nexn	G	A	3: 152,243,888	R258C	probably damaging	Het
Olfr1353	A	G	10: 78,970,203	I185V	probably benign	Het
Olfr748	A	C	14: 50,710,914	I195L	probably benign	Het
Olfr777	A	G	10: 129,268,666	I219T	probably damaging	Het
Olfr975	T	C	9: 39,949,925	N282S	probably damaging	Het
Optc	T	C	1: 133,900,977		probably benign	Het
Pabpc2	C	A	18: 39,775,383	P567Q	probably benign	Het
Ppm1j	A	G	3: 104,784,674	H324R	possibly damaging	Het
Reg3g	A	T	6: 78,466,561		probably null	Het
Sipa1l1	C	T	12: 82,440,908	A1652V	probably benign	Het
Ski	T	C	4: 155,159,392	T554A	probably benign	Het
Slfn5	G	A	11: 82,961,696	V883M	probably benign	Het
Stradb	T	C	1: 58,991,174		probably benign	Het
Tex19.1	A	G	11: 121,147,799	T328A	probably benign	Het
Tpsab1	T	C	17: 25,345,399	N27S	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttn	A	T	2: 76,812,900	L13225Q	probably damaging	Het
Vmn1r28	A	G	6: 58,265,858	T229A	probably benign	Het
Wapl	A	G	14: 34,724,754	K600E	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
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
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'- CAGCACCTGGACTTCAACAG -3'
(R):5'- CATGTGGTCAGGAGCATCAC -3'

Sequencing Primer
(F):5'- CCTGGACTTCAACAGCAAGG -3'
(R):5'- CTTGCTACCACCAGAGTGTGTG -3'

Posted On

2016-06-15