Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Zfp217'

632150

Institutional Source

Beutler Lab

Gene Symbol

Zfp217

Ensembl Gene

ENSMUSG00000052056

Gene Name

zinc finger protein 217

Synonyms

4933431C08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R8134 (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: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	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
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'- TTTCTCTGAGCATGAGTCGTC -3'
(R):5'- TCAATGAAGTGGTCCAGCCG -3'

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

Posted On

2020-06-30