Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02435:Zfp217'

293238

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp217

Ensembl Gene

ENSMUSG00000052056

Gene Name

zinc finger protein 217

Synonyms

4933431C08Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

IGL02435

Quality Score

Status

Chromosome

Chromosomal Location

169950563-169990023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 169961373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 318 (D318G)

Ref Sequence

ENSEMBL: ENSMUSP00000104783 (fasta)

Gene Model

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

AlphaFold

Q3U0X6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063710
AA Change: D318G

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056
AA Change: D318G

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: D318G

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056
AA Change: D318G

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: ENSMUST00000125162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149318

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	A	G	13: 19,323,333 (GRCm39)		probably benign	Het
Ankrd12	G	T	17: 66,294,151 (GRCm39)	S427R	probably damaging	Het
Atp4a	A	G	7: 30,416,482 (GRCm39)	T420A	probably benign	Het
Braf	C	T	6: 39,623,700 (GRCm39)	S414N	probably benign	Het
C1rl	T	C	6: 124,485,832 (GRCm39)	L401P	probably damaging	Het
Ecpas	A	G	4: 58,830,325 (GRCm39)		probably benign	Het
Elmo1	A	T	13: 20,773,826 (GRCm39)	D612V	probably damaging	Het
Fbxo15	T	C	18: 84,977,351 (GRCm39)	S88P	probably damaging	Het
Glrx3	A	G	7: 137,063,125 (GRCm39)	N132S	possibly damaging	Het
Hamp	G	T	7: 30,643,324 (GRCm39)	Q29K	probably benign	Het
Igfbp2	G	A	1: 72,891,245 (GRCm39)	R281Q	probably damaging	Het
Itih3	C	T	14: 30,637,711 (GRCm39)	A483T	probably damaging	Het
Mrc1	C	T	2: 14,253,671 (GRCm39)	Q231*	probably null	Het
Nif3l1	A	G	1: 58,487,020 (GRCm39)	T69A	possibly damaging	Het
Ntrk1	A	G	3: 87,696,039 (GRCm39)	F157S	probably benign	Het
Or2ag1b	A	G	7: 106,288,710 (GRCm39)	V76A	probably benign	Het
Or4a72	A	G	2: 89,405,890 (GRCm39)	F60S	probably damaging	Het
Or5b97	A	T	19: 12,878,391 (GRCm39)	I251N	probably damaging	Het
Pck2	T	C	14: 55,781,847 (GRCm39)		probably benign	Het
Pdgfrb	T	C	18: 61,197,998 (GRCm39)		probably null	Het
Ric8b	A	G	10: 84,815,940 (GRCm39)	N194S	probably benign	Het
Rlbp1	A	G	7: 79,031,414 (GRCm39)	F105L	probably damaging	Het
Sde2	G	T	1: 180,693,717 (GRCm39)	K402N	probably damaging	Het
Slc13a3	T	C	2: 165,250,860 (GRCm39)	H461R	possibly damaging	Het
Spag17	A	T	3: 99,889,760 (GRCm39)	I210F	possibly damaging	Het
Szt2	G	A	4: 118,248,020 (GRCm39)	R735W	probably damaging	Het
Tspan6	T	C	X: 132,793,493 (GRCm39)	Y186C	probably benign	Het
Ugt8a	A	G	3: 125,660,969 (GRCm39)	S508P	probably benign	Het

Other mutations in Zfp217

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Zfp217	APN	2	169,957,069 (GRCm39)	missense	probably benign
IGL02412:Zfp217	APN	2	169,954,422 (GRCm39)	utr 3 prime	probably benign
IGL03152:Zfp217	APN	2	169,960,972 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Zfp217	UTSW	2	169,956,503 (GRCm39)	missense	probably benign	0.01
R0107:Zfp217	UTSW	2	169,956,794 (GRCm39)	nonsense	probably null
R0109:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R0109:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R0110:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R0180:Zfp217	UTSW	2	169,962,057 (GRCm39)	missense	probably damaging	1.00
R0200:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R0279:Zfp217	UTSW	2	169,961,700 (GRCm39)	missense	probably benign	0.28
R0395:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R0396:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R0453:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R0510:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R0512:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R0513:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R0653:Zfp217	UTSW	2	169,957,382 (GRCm39)	missense	probably benign	0.31
R1549:Zfp217	UTSW	2	169,956,390 (GRCm39)	missense	probably benign	0.00
R3420:Zfp217	UTSW	2	169,961,937 (GRCm39)	missense	possibly damaging	0.90
R3421:Zfp217	UTSW	2	169,961,937 (GRCm39)	missense	possibly damaging	0.90
R3422:Zfp217	UTSW	2	169,961,937 (GRCm39)	missense	possibly damaging	0.90
R3726:Zfp217	UTSW	2	169,961,130 (GRCm39)	missense	probably damaging	0.96
R3731:Zfp217	UTSW	2	169,956,308 (GRCm39)	missense	probably benign	0.31
R3926:Zfp217	UTSW	2	169,954,438 (GRCm39)	missense	probably damaging	1.00
R4051:Zfp217	UTSW	2	169,954,536 (GRCm39)	critical splice acceptor site	probably null
R4289:Zfp217	UTSW	2	169,956,707 (GRCm39)	missense	probably benign	0.01
R4606:Zfp217	UTSW	2	169,961,670 (GRCm39)	missense	possibly damaging	0.67
R4948:Zfp217	UTSW	2	169,961,130 (GRCm39)	missense	probably damaging	0.96
R5113:Zfp217	UTSW	2	169,955,978 (GRCm39)	splice site	probably null
R5734:Zfp217	UTSW	2	169,961,064 (GRCm39)	missense	possibly damaging	0.57
R6228:Zfp217	UTSW	2	169,961,497 (GRCm39)	missense	probably benign	0.01
R6452:Zfp217	UTSW	2	169,961,214 (GRCm39)	missense	probably benign
R6782:Zfp217	UTSW	2	169,958,178 (GRCm39)	missense	probably damaging	1.00
R7212:Zfp217	UTSW	2	169,956,072 (GRCm39)	missense	probably benign	0.41
R8094:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8095:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8119:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8120:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8134:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8136:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8150:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8151:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8152:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8343:Zfp217	UTSW	2	169,962,024 (GRCm39)	missense	probably damaging	1.00
R8394:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8395:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8396:Zfp217	UTSW	2	169,961,571 (GRCm39)	missense	possibly damaging	0.82
R8885:Zfp217	UTSW	2	169,956,391 (GRCm39)	missense	probably benign	0.00
R8970:Zfp217	UTSW	2	169,956,997 (GRCm39)	missense	possibly damaging	0.61
R9631:Zfp217	UTSW	2	169,956,790 (GRCm39)	missense	possibly damaging	0.91

Posted On

2015-04-16