Mutagenetix > Incidental Mutation

Incidental Mutation 'R7212:Zfp217'

561121

Institutional Source

Beutler Lab

Gene Symbol

Zfp217

Ensembl Gene

ENSMUSG00000052056

Gene Name

zinc finger protein 217

Synonyms

4933431C08Rik

MMRRC Submission

045340-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R7212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

169950563-169990023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 169956072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 975 (S975R)

Ref Sequence

ENSEMBL: ENSMUSP00000067334 (fasta)

Gene Model

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

AlphaFold

Q3U0X6

Predicted Effect

probably benign
Transcript: ENSMUST00000063710
AA Change: S975R

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056
AA Change: S975R

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 benign
Transcript: ENSMUST00000109155
AA Change: S975R

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056
AA Change: S975R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	C	T	6: 83,138,654 (GRCm39)	A193V	probably benign	Het
Aatf	C	T	11: 84,340,006 (GRCm39)	R435Q	probably damaging	Het
Abca13	A	G	11: 9,248,854 (GRCm39)	H2867R	probably benign	Het
Abcd2	C	T	15: 91,043,326 (GRCm39)	A621T	possibly damaging	Het
Actl11	T	A	9: 107,805,856 (GRCm39)	S60T	probably damaging	Het
Adam28	T	A	14: 68,874,846 (GRCm39)	N277I	probably damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Arhgap27	C	T	11: 103,251,581 (GRCm39)	R49Q	probably damaging	Het
Armc10	T	C	5: 21,865,581 (GRCm39)	S209P	probably damaging	Het
Atp6v0a1	T	C	11: 100,934,783 (GRCm39)	F617L	probably benign	Het
Bap1	T	A	14: 30,973,580 (GRCm39)	N2K	probably damaging	Het
Bltp1	C	A	3: 37,102,158 (GRCm39)	N1363K		Het
Cass4	T	A	2: 172,269,106 (GRCm39)	L396*	probably null	Het
Ccdc40	A	G	11: 119,155,270 (GRCm39)	Q1170R	probably damaging	Het
Cdhr5	C	T	7: 140,852,572 (GRCm39)	R348H	probably damaging	Het
Cenpj	A	G	14: 56,790,109 (GRCm39)	S647P	probably benign	Het
Chordc1	T	A	9: 18,206,647 (GRCm39)		probably null	Het
Chordc1	T	C	9: 18,212,308 (GRCm39)	S41P	probably damaging	Het
Ckm	T	C	7: 19,148,978 (GRCm39)		probably null	Het
Clca3a1	A	C	3: 144,711,727 (GRCm39)	I756S	probably damaging	Het
Clcn1	T	C	6: 42,268,323 (GRCm39)	V165A	possibly damaging	Het
Clec4a4	T	A	6: 122,968,704 (GRCm39)		probably null	Het
Cog7	T	C	7: 121,576,537 (GRCm39)	K130E	probably damaging	Het
Coq7	A	G	7: 118,109,271 (GRCm39)	I259T	unknown	Het
Cp	T	C	3: 20,029,130 (GRCm39)	S536P	probably damaging	Het
Cyp2d10	T	A	15: 82,288,447 (GRCm39)		probably null	Het
Dcst2	A	G	3: 89,273,607 (GRCm39)	I162V	probably benign	Het
Dennd4c	A	G	4: 86,721,228 (GRCm39)	E630G	probably damaging	Het
Dpt	A	T	1: 164,624,484 (GRCm39)	I62F	probably benign	Het
Ednrb	T	A	14: 104,080,444 (GRCm39)	I157F	probably damaging	Het
Ext1	A	T	15: 53,208,558 (GRCm39)	W68R	probably benign	Het
Fgf4	A	G	7: 144,416,523 (GRCm39)	K152E	probably benign	Het
G530012D18Rik	A	T	1: 85,504,864 (GRCm39)	T90S	unknown	Het
Galnt17	T	C	5: 130,992,949 (GRCm39)	T322A	possibly damaging	Het
Gcm1	A	T	9: 77,966,925 (GRCm39)	D48V	possibly damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm49358	G	T	10: 86,661,071 (GRCm39)	R353L	probably damaging	Het
Golga4	A	G	9: 118,365,908 (GRCm39)	E320G	possibly damaging	Het
Herc3	T	C	6: 58,895,758 (GRCm39)	I1002T	probably damaging	Het
Hip1r	T	A	5: 124,111,845 (GRCm39)	V7E	possibly damaging	Het
Hipk1	G	A	3: 103,684,926 (GRCm39)	Q230*	probably null	Het
Igsf9b	C	T	9: 27,242,992 (GRCm39)	P726L	probably damaging	Het
Itgb6	T	C	2: 60,464,998 (GRCm39)	I345V	probably damaging	Het
Lhx4	G	T	1: 155,600,699 (GRCm39)	Q29K	probably benign	Het
Manba	A	G	3: 135,273,396 (GRCm39)	T777A	probably benign	Het
Mcm3ap	A	G	10: 76,337,145 (GRCm39)	D1360G	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mmp14	T	G	14: 54,673,336 (GRCm39)	D81E	probably damaging	Het
Naalad2	T	C	9: 18,275,337 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Or7a38	A	T	10: 78,753,339 (GRCm39)	I222L	possibly damaging	Het
Or8b35	T	A	9: 37,904,253 (GRCm39)	M150K	possibly damaging	Het
Pacs2	A	G	12: 113,025,312 (GRCm39)	D488G	possibly damaging	Het
Prr5	T	G	15: 84,629,993 (GRCm39)	L108R	probably null	Het
Psg23	A	G	7: 18,341,064 (GRCm39)	S397P	probably benign	Het
Rfpl4	C	A	7: 5,113,659 (GRCm39)	R174L	probably damaging	Het
Runx3	T	A	4: 134,880,090 (GRCm39)	I3N	probably damaging	Het
Scn5a	A	T	9: 119,372,451 (GRCm39)	N214K	possibly damaging	Het
Slc27a1	T	C	8: 72,037,092 (GRCm39)	I412T	probably damaging	Het
Sptbn4	T	G	7: 27,116,210 (GRCm39)	T530P	probably benign	Het
Tex15	A	T	8: 34,060,854 (GRCm39)	R95*	probably null	Het
Tex15	T	C	8: 34,063,023 (GRCm39)	S818P	probably damaging	Het
Tmod1	A	T	4: 46,093,951 (GRCm39)	K221*	probably null	Het
Tpm3	G	A	3: 89,998,361 (GRCm39)	D272N	probably benign	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Ugt2b5	A	T	5: 87,273,131 (GRCm39)	C512S	probably benign	Het
Vmn2r82	A	T	10: 79,215,268 (GRCm39)	E417V	probably benign	Het
Wfdc11	T	C	2: 164,506,366 (GRCm39)	N60S	probably benign	Het
Zfr	C	T	15: 12,146,309 (GRCm39)	Q287*	probably null	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
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
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'- GATGGCCCATAATCCATTGCTTTG -3'
(R):5'- AGTACAGTGAGCCACATCCC -3'

Sequencing Primer
(F):5'- GCCCATAATCCATTGCTTTGTACTAG -3'
(R):5'- AGACTCAAGTCCAGTGCGGTG -3'

Posted On

2019-06-26