Mutagenetix > Incidental Mutation

Incidental Mutation 'R2656:Zfp652'

252786

Institutional Source

Beutler Lab

Gene Symbol

Zfp652

Ensembl Gene

ENSMUSG00000075595

Gene Name

zinc finger protein 652

Synonyms

9530033F24Rik

MMRRC Submission

040431-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.796) question?

Stock #

R2656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95639893-95655541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95640155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 27 (S27G)

Ref Sequence

ENSEMBL: ENSMUSP00000103345 (fasta)

Gene Model

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

AlphaFold

Q5DU09

Predicted Effect

probably damaging
Transcript: ENSMUST00000091565
AA Change: S27G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089153
Gene: ENSMUSG00000075595
AA Change: S27G

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

probably damaging
Transcript: ENSMUST00000107717
AA Change: S27G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103345
Gene: ENSMUSG00000075595
AA Change: S27G

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: ENSMUST00000133070
AA Change: S27G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595
AA Change: S27G

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

probably benign
Transcript: ENSMUST00000148945
AA Change: S27G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115393
Gene: ENSMUSG00000075595
AA Change: S27G

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,696 (GRCm39)	C655R	probably damaging	Het
Adgrf3	A	T	5: 30,401,436 (GRCm39)	V864D	possibly damaging	Het
Angptl3	A	G	4: 98,926,201 (GRCm39)	I444V	probably benign	Het
Atp8b2	C	T	3: 89,849,065 (GRCm39)	A1090T	probably benign	Het
Bcl2l2	C	T	14: 55,122,889 (GRCm39)	R47C	probably benign	Het
Ces2a	G	A	8: 105,462,766 (GRCm39)	M118I	probably benign	Het
Cyp4a29	T	G	4: 115,106,921 (GRCm39)	L193V	possibly damaging	Het
Dpp8	A	G	9: 64,988,086 (GRCm39)	Y877C	probably damaging	Het
Enpp6	C	T	8: 47,535,453 (GRCm39)	R33*	probably null	Het
Fsip2	G	A	2: 82,809,389 (GRCm39)	D1903N	possibly damaging	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Gm14412	A	T	2: 177,006,993 (GRCm39)	C301S	unknown	Het
Gpatch2l	T	A	12: 86,335,584 (GRCm39)	D428E	probably damaging	Het
Grin2b	C	T	6: 135,710,427 (GRCm39)	G1040S	probably damaging	Het
Has2	T	C	15: 56,545,224 (GRCm39)	D126G	possibly damaging	Het
Itgam	T	G	7: 127,715,987 (GRCm39)	L1120R	probably null	Het
Kank4	T	C	4: 98,667,194 (GRCm39)	N418D	probably damaging	Het
Kcnk3	T	C	5: 30,780,015 (GRCm39)	V355A	possibly damaging	Het
Lonrf2	C	T	1: 38,855,041 (GRCm39)		probably null	Het
Lrp1b	A	T	2: 41,401,593 (GRCm39)	C240S	probably damaging	Het
Mapk8ip3	T	G	17: 25,131,781 (GRCm39)	E386A	probably damaging	Het
Mtmr14	A	G	6: 113,217,327 (GRCm39)	I80V	probably benign	Het
Nav2	A	C	7: 49,195,690 (GRCm39)	D961A	probably damaging	Het
Nmt2	A	G	2: 3,308,050 (GRCm39)	D107G	probably benign	Het
Nsd1	A	G	13: 55,394,681 (GRCm39)	K761E	probably damaging	Het
Ogdh	A	G	11: 6,298,678 (GRCm39)	T641A	probably benign	Het
Ogdhl	T	G	14: 32,054,783 (GRCm39)	F244V	possibly damaging	Het
Or2ag17	T	A	7: 106,389,720 (GRCm39)	T163S	probably damaging	Het
Or51k1	G	A	7: 103,661,072 (GRCm39)	S279L	probably damaging	Het
Or5b102	A	T	19: 13,041,348 (GRCm39)	H191L	probably benign	Het
Or5b97	A	G	19: 12,879,030 (GRCm39)	I38T	probably benign	Het
Pfpl	T	C	19: 12,407,600 (GRCm39)	I617T	probably benign	Het
Ppfia2	T	G	10: 106,701,268 (GRCm39)		probably null	Het
Prickle1	T	C	15: 93,401,251 (GRCm39)	E411G	probably benign	Het
Prpsap2	C	A	11: 61,621,051 (GRCm39)	M343I	probably benign	Het
Prpsap2	A	G	11: 61,643,717 (GRCm39)	V72A	probably benign	Het
Ranbp17	A	T	11: 33,193,122 (GRCm39)	D977E	probably benign	Het
Rin1	T	C	19: 5,102,204 (GRCm39)	S238P	probably damaging	Het
Scap	C	T	9: 110,203,087 (GRCm39)	R254W	probably damaging	Het
Scn3a	T	C	2: 65,356,862 (GRCm39)	D194G	probably damaging	Het
Shisa7	T	C	7: 4,832,818 (GRCm39)	H481R	possibly damaging	Het
Slc6a6	T	C	6: 91,718,029 (GRCm39)	Y323H	probably damaging	Het
Thoc2l	A	G	5: 104,667,181 (GRCm39)	I568V	probably benign	Het
Tlr9	T	C	9: 106,101,140 (GRCm39)	S144P	probably benign	Het
Tmem69	T	A	4: 116,410,787 (GRCm39)	K61M	probably damaging	Het
Ttc21a	A	G	9: 119,770,331 (GRCm39)	D134G	probably damaging	Het
Ttn	A	G	2: 76,724,614 (GRCm39)		probably benign	Het
Vwf	A	G	6: 125,532,324 (GRCm39)	T26A	probably benign	Het
Zbtb16	A	T	9: 48,743,988 (GRCm39)	I108N	probably damaging	Het
Zc3h7b	T	A	15: 81,664,631 (GRCm39)	Y497N	probably damaging	Het
Zfp808	A	G	13: 62,320,666 (GRCm39)	T632A	possibly damaging	Het
Znhit6	T	C	3: 145,283,924 (GRCm39)		probably null	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
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
R5209:Zfp652	UTSW	11	95,654,491 (GRCm39)	missense	possibly damaging	0.66
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'- TGCTGTGACACAGGAAGAACTG -3'
(R):5'- GCTCCCTGAAATATGGCTGC -3'

Sequencing Primer
(F):5'- CAGGCTGCAGGAGTTTCTTATTCTC -3'
(R):5'- GAAATATGGCTGCTCCTCCG -3'

Posted On

2014-12-04