Mutagenetix > Incidental Mutation

Incidental Mutation 'R4051:Zfp217'

314147

Institutional Source

Beutler Lab

Gene Symbol

Zfp217

Ensembl Gene

ENSMUSG00000052056

Gene Name

zinc finger protein 217

Synonyms

4933431C08Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R4051 ()

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

169950563-169990023 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 169954536 bp (GRCm39)

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	C	7: 45,635,987 (GRCm39)	L1020R	probably damaging	Het
Ahnak	A	C	19: 8,991,691 (GRCm39)	D4325A	probably damaging	Het
Chtf18	A	G	17: 25,938,168 (GRCm39)	V955A	probably damaging	Het
Dclk2	A	G	3: 86,738,129 (GRCm39)		probably null	Het
Disc1	A	G	8: 125,875,164 (GRCm39)	T547A	possibly damaging	Het
Eif4b	A	G	15: 101,995,039 (GRCm39)	Y211C	probably benign	Het
Fli1	T	G	9: 32,363,458 (GRCm39)	D176A	probably benign	Het
Hcn2	A	C	10: 79,569,521 (GRCm39)		probably null	Het
Ice1	A	G	13: 70,751,646 (GRCm39)	V1480A	probably damaging	Het
Ier5l	A	C	2: 30,363,324 (GRCm39)	S234A	probably benign	Het
Ino80b	G	C	6: 83,099,314 (GRCm39)	P178R	probably damaging	Het
Itga11	C	T	9: 62,662,933 (GRCm39)	Q550*	probably null	Het
Kdr	T	A	5: 76,129,068 (GRCm39)	M193L	probably benign	Het
Kif3b	G	A	2: 153,165,477 (GRCm39)	R628Q	probably damaging	Het
Ldlrad3	C	T	2: 101,783,507 (GRCm39)	D240N	probably damaging	Het
Met	T	C	6: 17,548,728 (GRCm39)	V924A	possibly damaging	Het
Or52m1	T	C	7: 102,290,233 (GRCm39)	V260A	possibly damaging	Het
Peg10	T	C	6: 4,754,534 (GRCm39)	L105P	probably benign	Het
Phtf1	A	G	3: 103,912,824 (GRCm39)	T717A	possibly damaging	Het
Ptafr	T	C	4: 132,307,305 (GRCm39)	W232R	probably benign	Het
Rnase4	A	G	14: 51,342,462 (GRCm39)	K62R	probably benign	Het
Slamf7	T	C	1: 171,464,951 (GRCm39)	K261E	possibly damaging	Het
Slc9c1	T	A	16: 45,363,593 (GRCm39)	Y120N	probably damaging	Het
Sstr2	A	C	11: 113,515,482 (GRCm39)	T134P	probably damaging	Het
Steap4	A	G	5: 8,030,404 (GRCm39)	Y420C	probably damaging	Het
Tbc1d9b	T	C	11: 50,062,070 (GRCm39)	C1210R	probably benign	Het
Tnfsf10	T	A	3: 27,389,503 (GRCm39)	I188N	probably damaging	Het
Trav7-3	A	G	14: 53,681,203 (GRCm39)	T82A	probably benign	Het
Usp46	T	C	5: 74,163,416 (GRCm39)	N283S	probably benign	Het
Vmn2r84	T	G	10: 130,226,767 (GRCm39)	N357T	probably damaging	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
IGL02435:Zfp217	APN	2	169,961,373 (GRCm39)	missense	possibly damaging	0.56
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
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

Predicted Primers

PCR Primer
(F):5'- GAACAGCACTGTCCGTGTAC -3'
(R):5'- TCACTTTAAGTATGTGAGTGCCAAG -3'

Sequencing Primer
(F):5'- GTGTACCCACCCACACTGAG -3'
(R):5'- CTGGGTTTAAGGGCAAATATCACC -3'

Posted On

2015-04-30