Mutagenetix > Incidental Mutation

Incidental Mutation 'R5209:Zfp652'

403056

Institutional Source

Beutler Lab

Gene Symbol

Zfp652

Ensembl Gene

ENSMUSG00000075595

Gene Name

zinc finger protein 652

Synonyms

9530033F24Rik

MMRRC Submission

042784-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.796) question?

Stock #

R5209 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95639893-95655541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 95654491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 478 (R478P)

Ref Sequence

ENSEMBL: ENSMUSP00000103345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091565] [ENSMUST00000107717] [ENSMUST00000133070] [ENSMUST00000148945]

AlphaFold

Q5DU09

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091565
AA Change: R478P

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000089153
Gene: ENSMUSG00000075595
AA Change: R478P

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
low complexity region	173	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
ZnF_C2H2	244	267	7.9e-4	SMART
ZnF_C2H2	271	291	6.15e1	SMART
ZnF_C2H2	298	321	1.76e-1	SMART
ZnF_C2H2	328	350	2.53e-2	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.95e-3	SMART
ZnF_C2H2	412	434	1.95e-3	SMART
ZnF_C2H2	440	462	1.15e-5	SMART
ZnF_C2H2	468	488	6.15e1	SMART
low complexity region	508	529	N/A	INTRINSIC
low complexity region	544	576	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107717
AA Change: R478P

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103345
Gene: ENSMUSG00000075595
AA Change: R478P

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
low complexity region	173	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
ZnF_C2H2	244	267	7.9e-4	SMART
ZnF_C2H2	271	291	6.15e1	SMART
ZnF_C2H2	298	321	1.76e-1	SMART
ZnF_C2H2	328	350	2.53e-2	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.95e-3	SMART
ZnF_C2H2	412	434	1.95e-3	SMART
ZnF_C2H2	440	462	1.15e-5	SMART
ZnF_C2H2	468	488	6.15e1	SMART
low complexity region	508	529	N/A	INTRINSIC
low complexity region	544	576	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120170

Predicted Effect

probably benign
Transcript: ENSMUST00000133070

SMART Domains

Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
low complexity region	173	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
ZnF_C2H2	244	267	7.9e-4	SMART
ZnF_C2H2	271	291	6.15e1	SMART
ZnF_C2H2	298	321	1.76e-1	SMART
ZnF_C2H2	328	350	2.53e-2	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.95e-3	SMART
ZnF_C2H2	412	434	1.95e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148945
AA Change: R298P

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115393
Gene: ENSMUSG00000075595
AA Change: R298P

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC
ZnF_C2H2	118	141	4.34e-1	SMART
ZnF_C2H2	148	170	2.53e-2	SMART
ZnF_C2H2	176	198	6.78e-3	SMART
ZnF_C2H2	204	226	2.95e-3	SMART
ZnF_C2H2	232	254	1.95e-3	SMART
ZnF_C2H2	260	282	1.15e-5	SMART
ZnF_C2H2	288	308	6.15e1	SMART
low complexity region	328	349	N/A	INTRINSIC
low complexity region	364	396	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (57/57)

Allele List at MGI

All alleles(23) : Targeted(1) Gene trapped(22)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,832,130 (GRCm39)	V500A	probably benign	Het
Abcg4	A	G	9: 44,186,672 (GRCm39)	Y491H	probably damaging	Het
Adgb	C	A	10: 10,274,681 (GRCm39)	V759L	possibly damaging	Het
Adprhl1	T	A	8: 13,292,563 (GRCm39)	K243*	probably null	Het
Arhgap24	T	A	5: 103,040,015 (GRCm39)	D317E	probably benign	Het
Arhgef5	A	T	6: 43,250,634 (GRCm39)	I462F	probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Btbd18	A	G	2: 84,498,443 (GRCm39)	T694A	possibly damaging	Het
Ces1d	A	T	8: 93,901,816 (GRCm39)		probably benign	Het
Chmp2a	C	A	7: 12,766,601 (GRCm39)	V106F	probably damaging	Het
Cinp	T	C	12: 110,840,494 (GRCm39)	E219G	probably benign	Het
Col5a3	C	T	9: 20,689,939 (GRCm39)		probably benign	Het
Dnhd1	T	G	7: 105,345,667 (GRCm39)	S2271A	probably benign	Het
Epg5	T	A	18: 77,994,497 (GRCm39)	L376H	probably damaging	Het
Fam81a	T	C	9: 70,032,442 (GRCm39)	T17A	probably benign	Het
Fgd2	T	A	17: 29,587,350 (GRCm39)		probably null	Het
Gjc3	C	T	5: 137,955,533 (GRCm39)	V251I	probably benign	Het
Gnaz	T	G	10: 74,827,823 (GRCm39)	F192V	probably benign	Het
Hmgcr	T	C	13: 96,803,020 (GRCm39)		probably benign	Het
Mamdc4	G	T	2: 25,456,935 (GRCm39)	A614E	probably damaging	Het
Mapk8ip2	A	T	15: 89,343,490 (GRCm39)	Q713L	probably damaging	Het
Mettl1	T	C	10: 126,881,203 (GRCm39)	V238A	possibly damaging	Het
Ms4a4c	G	A	19: 11,393,802 (GRCm39)	G74E	probably damaging	Het
Msh3	A	G	13: 92,481,462 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,230,736 (GRCm39)	Y113*	probably null	Het
Mylk	T	C	16: 34,742,995 (GRCm39)	L1169P	possibly damaging	Het
Npr3	A	G	15: 11,848,689 (GRCm39)	V426A	possibly damaging	Het
Or12d15	T	C	17: 37,693,721 (GRCm39)	S88P	probably damaging	Het
Or5au1	T	C	14: 52,273,410 (GRCm39)	T53A	probably benign	Het
Or6c202	A	C	10: 128,996,801 (GRCm39)	D17E	possibly damaging	Het
Or8b1c	T	A	9: 38,384,817 (GRCm39)	M258K	possibly damaging	Het
Pcdhb17	T	C	18: 37,620,514 (GRCm39)	F768S	probably damaging	Het
Piezo2	T	C	18: 63,166,000 (GRCm39)	N2077S	probably damaging	Het
Pkd1l2	G	A	8: 117,783,181 (GRCm39)	P713L	probably benign	Het
Primpol	T	C	8: 47,043,295 (GRCm39)	T333A	probably benign	Het
Pth2r	A	T	1: 65,427,856 (GRCm39)	T510S	probably benign	Het
Ptprr	A	T	10: 115,998,514 (GRCm39)	E208V	probably damaging	Het
Rag1	T	C	2: 101,474,560 (GRCm39)	Y194C	probably benign	Het
Reep5	A	T	18: 34,490,293 (GRCm39)		probably null	Het
Rexo5	T	A	7: 119,433,522 (GRCm39)	Y493*	probably null	Het
Rgs9	T	C	11: 109,130,420 (GRCm39)		probably null	Het
Rps6ka1	A	T	4: 133,593,129 (GRCm39)	V218D	probably damaging	Het
Satb1	A	T	17: 52,116,235 (GRCm39)	M16K	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slfn14	A	G	11: 83,170,459 (GRCm39)	F395S	possibly damaging	Het
Spata31h1	T	C	10: 82,119,652 (GRCm39)	T4453A	possibly damaging	Het
Sptbn5	T	A	2: 119,902,483 (GRCm39)	I82F	probably benign	Het
Stam	T	A	2: 14,151,158 (GRCm39)	I505K	probably benign	Het
Tesk2	G	A	4: 116,581,895 (GRCm39)		probably benign	Het
Trappc12	T	C	12: 28,787,793 (GRCm39)	K430R	probably benign	Het
Trmo	T	C	4: 46,387,740 (GRCm39)	N34D	probably damaging	Het
Ubr2	C	A	17: 47,279,350 (GRCm39)	C686F	probably damaging	Het
Vdac1	C	T	11: 52,267,279 (GRCm39)	T60I	probably damaging	Het

Other mutations in Zfp652

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0023:Zfp652	UTSW	11	95,644,295 (GRCm39)	nonsense	probably null
R0023:Zfp652	UTSW	11	95,644,295 (GRCm39)	nonsense	probably null
R0432:Zfp652	UTSW	11	95,654,565 (GRCm39)	missense	possibly damaging	0.50
R0464:Zfp652	UTSW	11	95,654,475 (GRCm39)	missense	probably damaging	0.99
R1146:Zfp652	UTSW	11	95,640,608 (GRCm39)	missense	possibly damaging	0.86
R1146:Zfp652	UTSW	11	95,640,608 (GRCm39)	missense	possibly damaging	0.86
R1920:Zfp652	UTSW	11	95,654,851 (GRCm39)	missense	possibly damaging	0.73
R1922:Zfp652	UTSW	11	95,654,851 (GRCm39)	missense	possibly damaging	0.73
R2090:Zfp652	UTSW	11	95,644,834 (GRCm39)	missense	probably benign	0.14
R2290:Zfp652	UTSW	11	95,640,849 (GRCm39)	missense	possibly damaging	0.58
R2656:Zfp652	UTSW	11	95,640,155 (GRCm39)	missense	probably damaging	0.98
R4790:Zfp652	UTSW	11	95,640,435 (GRCm39)	missense	probably damaging	0.99
R5073:Zfp652	UTSW	11	95,640,890 (GRCm39)	missense	possibly damaging	0.65
R5098:Zfp652	UTSW	11	95,643,762 (GRCm39)	missense	probably damaging	1.00
R5569:Zfp652	UTSW	11	95,640,116 (GRCm39)	missense	probably benign
R5905:Zfp652	UTSW	11	95,640,689 (GRCm39)	missense	probably benign
R6026:Zfp652	UTSW	11	95,640,788 (GRCm39)	missense	possibly damaging	0.95
R6054:Zfp652	UTSW	11	95,640,689 (GRCm39)	missense	probably benign
R6629:Zfp652	UTSW	11	95,654,616 (GRCm39)	missense	probably damaging	0.96
R6815:Zfp652	UTSW	11	95,640,230 (GRCm39)	nonsense	probably null
R6932:Zfp652	UTSW	11	95,654,667 (GRCm39)	missense	probably benign
R7384:Zfp652	UTSW	11	95,643,830 (GRCm39)	missense	probably damaging	1.00
R7644:Zfp652	UTSW	11	95,640,914 (GRCm39)	missense	probably damaging	1.00
R7667:Zfp652	UTSW	11	95,640,544 (GRCm39)	missense	probably benign	0.00
R7881:Zfp652	UTSW	11	95,640,935 (GRCm39)	missense	possibly damaging	0.83
R8045:Zfp652	UTSW	11	95,640,483 (GRCm39)	missense	possibly damaging	0.94
R8093:Zfp652	UTSW	11	95,640,288 (GRCm39)	missense	probably damaging	0.99
R8482:Zfp652	UTSW	11	95,643,719 (GRCm39)	missense	probably damaging	1.00
R8876:Zfp652	UTSW	11	95,639,921 (GRCm39)	start gained	probably benign
R9366:Zfp652	UTSW	11	95,643,833 (GRCm39)	nonsense	probably null
Z1177:Zfp652	UTSW	11	95,640,761 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGGTGCCTGTCTTTACAC -3'
(R):5'- AGAAAGGTGTCCTCGCTCTG -3'

Sequencing Primer
(F):5'- TGTCTTTACACCGGGGCAC -3'
(R):5'- TCTCGAGGGAAGCACAGCAC -3'

Posted On

2016-07-22