Mutagenetix > Incidental Mutation

Incidental Mutation 'R8482:Zfp652'

657574

Institutional Source

Beutler Lab

Gene Symbol

Zfp652

Ensembl Gene

ENSMUSG00000075595

Gene Name

zinc finger protein 652

Synonyms

9530033F24Rik

MMRRC Submission

067926-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.796) question?

Stock #

R8482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95639893-95655541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95643719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 306 (S306P)

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: S306P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089153
Gene: ENSMUSG00000075595
AA Change: S306P

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: S306P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103345
Gene: ENSMUSG00000075595
AA Change: S306P

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: ENSMUST00000133070
AA Change: S306P

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595
AA Change: S306P

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 damaging
Transcript: ENSMUST00000148945
AA Change: S126P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115393
Gene: ENSMUSG00000075595
AA Change: S126P

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

Meta Mutation Damage Score

0.2689

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (49/49)

Allele List at MGI

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

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 78,746,492 (GRCm39)	V711I	probably benign	Het
Adprh	A	T	16: 38,267,871 (GRCm39)	M138K	probably damaging	Het
Ahctf1	A	G	1: 179,591,107 (GRCm39)		probably benign	Het
Atg9a	G	A	1: 75,162,870 (GRCm39)	T410M	probably damaging	Het
Atxn1	A	T	13: 45,721,426 (GRCm39)	S156R	possibly damaging	Het
Bptf	T	C	11: 106,934,524 (GRCm39)	T2850A	probably benign	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccdc97	T	C	7: 25,414,427 (GRCm39)	D109G	probably damaging	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Clec4a2	T	C	6: 123,100,630 (GRCm39)		probably null	Het
Col13a1	A	G	10: 61,720,477 (GRCm39)	I317T	probably damaging	Het
D630003M21Rik	G	T	2: 158,058,852 (GRCm39)	S349R	probably benign	Het
Eml5	C	A	12: 98,842,560 (GRCm39)	L179F	probably damaging	Het
Entrep1	T	A	19: 23,965,866 (GRCm39)	N211I	probably damaging	Het
Ets2	A	T	16: 95,516,019 (GRCm39)	M200L	probably benign	Het
Fat3	T	C	9: 16,158,263 (GRCm39)	T1116A	probably benign	Het
Fhit	A	G	14: 10,751,616 (GRCm38)	V24A	probably benign	Het
Gm6685	T	C	11: 28,289,195 (GRCm39)	N207S	probably benign	Het
Hdc	G	A	2: 126,436,125 (GRCm39)	T582M	probably benign	Het
Hmgxb4	G	A	8: 75,756,222 (GRCm39)	C575Y	probably damaging	Het
Kidins220	T	A	12: 25,090,527 (GRCm39)	S1164T	probably benign	Het
Ldb1	C	A	19: 46,024,709 (GRCm39)	D5Y	probably null	Het
Lpcat1	G	A	13: 73,659,044 (GRCm39)	R320H	probably benign	Het
Lrfn4	T	C	19: 4,664,333 (GRCm39)	D67G	probably damaging	Het
Myo15b	C	T	11: 115,774,083 (GRCm39)	Q550*	probably null	Het
Myo18b	C	A	5: 113,019,489 (GRCm39)	E43*	probably null	Het
Neurl1a	T	C	19: 47,241,719 (GRCm39)	C271R	probably damaging	Het
Nfasc	T	C	1: 132,532,827 (GRCm39)	S690G	probably damaging	Het
Ngly1	T	C	14: 16,310,377 (GRCm38)	S501P	probably benign	Het
Nlrp1a	A	T	11: 70,999,901 (GRCm39)		probably null	Het
Npw	A	G	17: 24,876,396 (GRCm39)	W172R	probably benign	Het
Nudt8	T	C	19: 4,050,849 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,219,352 (GRCm39)	Y458F	probably damaging	Het
Or10ag56	G	A	2: 87,139,726 (GRCm39)	V198I	probably benign	Het
Osbpl5	T	A	7: 143,258,731 (GRCm39)	T280S	probably benign	Het
Pex1	A	T	5: 3,662,923 (GRCm39)	I505F	probably benign	Het
Pfkm	A	G	15: 98,029,864 (GRCm39)	E756G	probably benign	Het
Pkd2l2	A	G	18: 34,558,166 (GRCm39)	I282V	possibly damaging	Het
Pnpla8	T	C	12: 44,330,410 (GRCm39)	S321P	probably benign	Het
Prxl2a	C	T	14: 40,719,723 (GRCm39)	E164K	probably benign	Het
Qdpr	G	T	5: 45,596,688 (GRCm39)	Q159K	probably benign	Het
Rac2	T	C	15: 78,450,206 (GRCm39)	M45V	probably benign	Het
Rnaset2b	G	A	17: 7,263,908 (GRCm39)		probably null	Het
Rpl38	T	A	11: 114,563,114 (GRCm39)	*71R	probably null	Het
Sacs	G	T	14: 61,440,404 (GRCm39)	V817L	probably benign	Het
Selenot	T	C	3: 58,495,889 (GRCm39)	F133S	probably damaging	Het
Sgcg	G	A	14: 61,477,856 (GRCm39)	L78F	probably damaging	Het
Slc19a1	A	G	10: 76,885,497 (GRCm39)	R466G	probably benign	Het
Tpr	A	G	1: 150,309,451 (GRCm39)	T1736A	probably damaging	Het
Zfhx3	A	G	8: 109,674,511 (GRCm39)	I1854V	probably benign	Het
Zfp998	C	T	13: 66,579,797 (GRCm39)		probably benign	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
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
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'- CCAAGGTATCTAAAAGGTGGGTC -3'
(R):5'- TATCCTGCCCAATGTGGAGC -3'

Sequencing Primer
(F):5'- TAGAACATACAGAGGTTAGTGTTGG -3'
(R):5'- CAGAGAGCACTCCAGGAGTCTG -3'

Posted On

2021-01-18