Mutagenetix > Incidental Mutation

Incidental Mutation 'R7881:Zfp652'

608775

Institutional Source

Beutler Lab

Gene Symbol

Zfp652

Ensembl Gene

ENSMUSG00000075595

Gene Name

zinc finger protein 652

Synonyms

9530033F24Rik

MMRRC Submission

045933-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R7881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95639893-95655541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95640935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 287 (S287T)

Ref Sequence

ENSEMBL: ENSMUSP00000089153 (fasta)

Gene Model

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

AlphaFold

Q5DU09

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091565
AA Change: S287T

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089153
Gene: ENSMUSG00000075595
AA Change: S287T

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: S287T

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103345
Gene: ENSMUSG00000075595
AA Change: S287T

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: S287T

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595
AA Change: S287T

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

SMART Domains

Protein: ENSMUSP00000115393
Gene: ENSMUSG00000075595

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

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

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,685 (GRCm39)	N1030S	possibly damaging	Het
4930507D05Rik	A	G	10: 62,285,303 (GRCm39)	H9R	unknown	Het
Anks1b	T	A	10: 90,802,880 (GRCm39)	S398T	probably benign	Het
Bbox1	T	A	2: 110,122,871 (GRCm39)	K139N	probably benign	Het
Birc6	C	A	17: 74,948,666 (GRCm39)	H3047N	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camta1	G	A	4: 151,920,333 (GRCm39)	S18F	probably damaging	Het
Ccnb1ip1	T	C	14: 51,031,277 (GRCm39)	Y12C	possibly damaging	Het
Celsr3	G	A	9: 108,705,271 (GRCm39)	A585T	probably benign	Het
Col6a4	T	C	9: 105,957,497 (GRCm39)	N109S	probably benign	Het
Crisp4	A	T	1: 18,198,893 (GRCm39)	D180E	probably benign	Het
Dmxl1	T	A	18: 49,997,450 (GRCm39)	M546K	probably damaging	Het
Dnah11	C	T	12: 117,951,237 (GRCm39)	V3024I	probably benign	Het
Dnah2	T	C	11: 69,322,064 (GRCm39)	D3752G	probably damaging	Het
Dram1	G	T	10: 88,160,609 (GRCm39)	D237E	probably benign	Het
Ehbp1l1	T	C	19: 5,769,426 (GRCm39)	N626D	probably benign	Het
Elavl1	T	G	8: 4,361,763 (GRCm39)	N3T	probably damaging	Het
Fam184a	A	G	10: 53,574,589 (GRCm39)	V340A	probably benign	Het
Fer1l5	C	T	1: 36,446,117 (GRCm39)	T876M	not run	Het
Foxp2	T	A	6: 15,409,888 (GRCm39)	V471E	unknown	Het
Fstl5	G	A	3: 76,443,605 (GRCm39)	G317R	probably damaging	Het
Gm32742	T	C	9: 51,060,414 (GRCm39)	E963G	possibly damaging	Het
Gpbp1	A	T	13: 111,575,733 (GRCm39)	S257T	possibly damaging	Het
Gsdmc4	C	T	15: 63,769,568 (GRCm39)	C218Y	possibly damaging	Het
Hmg20b	T	C	10: 81,182,442 (GRCm39)	H298R	probably damaging	Het
Igf2r	A	T	17: 12,967,591 (GRCm39)	C72S	probably benign	Het
Kcnip1	A	G	11: 33,583,206 (GRCm39)	M193T	probably damaging	Het
Khdc1c	G	T	1: 21,439,899 (GRCm39)	C150F	probably benign	Het
Kmt2b	A	G	7: 30,279,208 (GRCm39)	S1485P	probably damaging	Het
Lnpep	A	G	17: 17,787,001 (GRCm39)	S533P	probably benign	Het
Megf8	T	A	7: 25,040,060 (GRCm39)	V997E	possibly damaging	Het
Mob2	T	C	7: 141,563,177 (GRCm39)	Y94C	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Npepl1	A	G	2: 173,962,387 (GRCm39)	D351G	probably damaging	Het
Nrg1	G	A	8: 32,328,352 (GRCm39)	Q213*	probably null	Het
Nrp2	A	G	1: 62,810,990 (GRCm39)	D677G	probably benign	Het
Or11h7	A	G	14: 50,890,904 (GRCm39)	E70G	probably damaging	Het
Or2b4	G	T	17: 38,116,320 (GRCm39)	G95C	probably damaging	Het
Or56a3	G	T	7: 104,735,780 (GRCm39)	V286F	probably damaging	Het
Or5aq7	G	T	2: 86,938,401 (GRCm39)	T110K	probably damaging	Het
Or5m3b	C	A	2: 85,871,814 (GRCm39)	Q52K	probably benign	Het
Or8c8	T	A	9: 38,165,406 (GRCm39)	M228K	probably benign	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Phaf1	C	A	8: 105,976,084 (GRCm39)	T347N	probably benign	Het
Prune2	G	A	19: 17,100,393 (GRCm39)	V1966I	possibly damaging	Het
Ptch2	A	G	4: 116,967,585 (GRCm39)	H751R	probably benign	Het
Ptges2	T	A	2: 32,292,243 (GRCm39)	M353K	probably damaging	Het
Pum3	G	A	19: 27,373,728 (GRCm39)	Q564*	probably null	Het
Qtrt1	A	G	9: 21,330,637 (GRCm39)	D279G	probably damaging	Het
Rftn1	C	T	17: 50,354,463 (GRCm39)	V300I	probably benign	Het
Robo2	T	C	16: 73,717,585 (GRCm39)	T1172A	probably benign	Het
Sdc3	A	G	4: 130,544,244 (GRCm39)	D74G	unknown	Het
Setd1b	A	G	5: 123,290,336 (GRCm39)	M768V	unknown	Het
Shld2	A	T	14: 33,989,724 (GRCm39)	M394K	possibly damaging	Het
Siglech	A	T	7: 55,422,289 (GRCm39)	H298L	probably benign	Het
Sipa1	A	T	19: 5,701,704 (GRCm39)	L977Q	probably damaging	Het
Slc9c1	G	A	16: 45,403,332 (GRCm39)	V800I	probably benign	Het
Spata31e1	A	G	13: 49,943,547 (GRCm39)	S44P	possibly damaging	Het
Spata31f1a	C	T	4: 42,851,586 (GRCm39)	C190Y	probably benign	Het
Tbc1d8	C	T	1: 39,425,104 (GRCm39)	R582Q	probably damaging	Het
Tmem247	T	A	17: 87,229,728 (GRCm39)	F190I	probably damaging	Het
Trim42	C	A	9: 97,245,070 (GRCm39)	A577S	possibly damaging	Het
Ubiad1	G	A	4: 148,528,726 (GRCm39)	T61I	probably benign	Het
Usp40	G	A	1: 87,923,435 (GRCm39)	Q279*	probably null	Het
Usp48	A	G	4: 137,360,766 (GRCm39)	N733S	probably benign	Het
Vmn2r83	A	T	10: 79,314,261 (GRCm39)	I170F	probably benign	Het
Xkr4	G	A	1: 3,286,487 (GRCm39)	P568S	probably damaging	Het
Zc3h7b	T	C	15: 81,664,679 (GRCm39)	W513R	probably damaging	Het
Zfp40	T	C	17: 23,410,440 (GRCm39)		probably benign	Het
Znrf3	G	A	11: 5,394,533 (GRCm39)	A49V	unknown	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
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'- AGTGCAGAGCTACCCAAGAG -3'
(R):5'- TTTTGAAAAGACCCAAGCAGCAG -3'

Sequencing Primer
(F):5'- CCACCAAGGAGGCTAAAGCG -3'
(R):5'- CCCAAGCAGCAGAGTCTAAAGTG -3'

Posted On

2019-12-20