Mutagenetix > Incidental Mutation

Incidental Mutation 'R6932:Zfp652'

540112

Institutional Source

Beutler Lab

Gene Symbol

Zfp652

Ensembl Gene

ENSMUSG00000075595

Gene Name

zinc finger protein 652

Synonyms

9530033F24Rik

MMRRC Submission

045047-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R6932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95639893-95655541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95654667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 357 (V357L)

Ref Sequence

ENSEMBL: ENSMUSP00000115393 (fasta)

Gene Model

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

AlphaFold

Q5DU09

Predicted Effect

probably benign
Transcript: ENSMUST00000091565
AA Change: V537L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000089153
Gene: ENSMUSG00000075595
AA Change: V537L

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 benign
Transcript: ENSMUST00000107717
AA Change: V537L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103345
Gene: ENSMUSG00000075595
AA Change: V537L

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 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

probably benign
Transcript: ENSMUST00000148945
AA Change: V357L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115393
Gene: ENSMUSG00000075595
AA Change: V357L

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

98% (80/82)

Allele List at MGI

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

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,331 (GRCm39)	F198I	probably damaging	Het
Acy1	A	G	9: 106,314,826 (GRCm39)		probably null	Het
Adk	A	G	14: 21,126,376 (GRCm39)	M1V	probably null	Het
Ahi1	A	G	10: 20,839,590 (GRCm39)	D167G	probably benign	Het
Ankrd16	T	C	2: 11,791,054 (GRCm39)	V290A	possibly damaging	Het
Arhgef5	T	A	6: 43,251,351 (GRCm39)	S701T	possibly damaging	Het
Atp13a5	C	A	16: 29,100,769 (GRCm39)	M673I	probably damaging	Het
BC005624	T	C	2: 30,868,940 (GRCm39)	D78G	possibly damaging	Het
Bcat2	C	T	7: 45,238,745 (GRCm39)	H347Y	probably damaging	Het
Bpifb4	A	G	2: 153,784,547 (GRCm39)	Y85C	possibly damaging	Het
Cdc42	T	A	4: 137,049,932 (GRCm39)		probably null	Het
Cep170	G	A	1: 176,589,003 (GRCm39)	L541F	possibly damaging	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Cgrrf1	T	A	14: 47,091,179 (GRCm39)	N234K	probably benign	Het
Ctrc	C	T	4: 141,568,879 (GRCm39)	C108Y	probably damaging	Het
Cyp2u1	C	T	3: 131,091,945 (GRCm39)	V192M	possibly damaging	Het
Dhx38	A	T	8: 110,279,307 (GRCm39)	L1013Q	probably damaging	Het
Dnah1	T	A	14: 31,009,733 (GRCm39)	N1945I	probably damaging	Het
Dnah10	C	G	5: 124,898,514 (GRCm39)	N3765K	possibly damaging	Het
Dnah17	C	A	11: 117,950,905 (GRCm39)	R2906L	possibly damaging	Het
Dnajc10	C	T	2: 80,161,680 (GRCm39)	T306I	probably benign	Het
Efemp2	T	A	19: 5,530,273 (GRCm39)	C287S	probably damaging	Het
Efna1	T	C	3: 89,180,091 (GRCm39)	R143G	probably benign	Het
Emilin1	A	C	5: 31,074,421 (GRCm39)	N221H	probably damaging	Het
Epg5	A	G	18: 77,991,824 (GRCm39)	T174A	probably benign	Het
Fam184b	T	A	5: 45,690,243 (GRCm39)		probably null	Het
Fchsd2	T	A	7: 100,926,621 (GRCm39)	C570*	probably null	Het
Gm4787	A	T	12: 81,425,974 (GRCm39)	D61E	probably benign	Het
Gm7356	C	T	17: 14,221,925 (GRCm39)	G35R	probably damaging	Het
Gm8220	A	G	14: 44,525,645 (GRCm39)	T20A	probably damaging	Het
Hivep2	C	T	10: 14,004,245 (GRCm39)	T281M	probably damaging	Het
Ighv2-9-1	A	G	12: 113,733,692 (GRCm39)	V43A	probably damaging	Het
Klhl33	A	T	14: 51,129,373 (GRCm39)	C619S	probably benign	Het
Kmt2a	A	T	9: 44,740,558 (GRCm39)		probably benign	Het
Lax1	A	G	1: 133,607,896 (GRCm39)	C282R	probably benign	Het
Lrrd1	A	G	5: 3,901,395 (GRCm39)	K567E	probably benign	Het
Luzp1	C	T	4: 136,268,124 (GRCm39)	R116*	probably null	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Macrod2	A	T	2: 140,261,833 (GRCm39)	N38I	probably damaging	Het
Map3k14	A	T	11: 103,132,958 (GRCm39)	I80N	probably damaging	Het
Mcm9	A	G	10: 53,496,299 (GRCm39)	S368P	probably benign	Het
Mfge8	T	C	7: 78,793,049 (GRCm39)	D139G	probably benign	Het
Mmp19	A	T	10: 128,627,523 (GRCm39)	I54F	probably benign	Het
Myo15a	G	T	11: 60,390,320 (GRCm39)	W2114L	probably damaging	Het
Myo1a	G	T	10: 127,546,327 (GRCm39)	V277L	probably benign	Het
Myoc	A	G	1: 162,466,915 (GRCm39)	D28G	probably damaging	Het
Myrf	G	T	19: 10,196,924 (GRCm39)	N487K	probably damaging	Het
Omd	T	A	13: 49,743,710 (GRCm39)	F253L	probably damaging	Het
Or2ag19	G	T	7: 106,444,009 (GRCm39)	G64*	probably null	Het
Or5t5	C	G	2: 86,616,499 (GRCm39)	L142V	probably damaging	Het
Or6n1	G	A	1: 173,917,316 (GRCm39)	A237T	probably damaging	Het
Papss1	T	G	3: 131,305,732 (GRCm39)	I238S	probably damaging	Het
Pkhd1	A	T	1: 20,632,675 (GRCm39)	F580Y	probably benign	Het
Polk	T	A	13: 96,653,189 (GRCm39)	K70N	probably damaging	Het
Ppig	T	A	2: 69,562,755 (GRCm39)	D31E	probably benign	Het
Ppp6r1	G	T	7: 4,636,291 (GRCm39)	S766R	possibly damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Reln	T	C	5: 22,190,855 (GRCm39)	I1511V	probably benign	Het
Rnh1	T	C	7: 140,743,096 (GRCm39)	N268S	probably damaging	Het
Rpia	A	G	6: 70,750,424 (GRCm39)	V236A	probably benign	Het
Rpl10a	G	T	17: 28,548,424 (GRCm39)	V80L	probably benign	Het
Sap130	T	G	18: 31,799,407 (GRCm39)	S295A	possibly damaging	Het
Sgms1	C	T	19: 32,120,193 (GRCm39)	V238I	probably benign	Het
Sh3tc1	A	G	5: 35,864,778 (GRCm39)	S470P	probably benign	Het
Slc25a32	A	G	15: 38,960,984 (GRCm39)	V233A	possibly damaging	Het
Slc2a2	T	C	3: 28,771,668 (GRCm39)	S158P	probably benign	Het
Slc6a2	A	G	8: 93,722,653 (GRCm39)	Y550C	probably benign	Het
Slc7a9	C	A	7: 35,151,936 (GRCm39)	T77K	probably benign	Het
Snd1	A	T	6: 28,626,100 (GRCm39)	D385V	probably benign	Het
Ssh3	A	T	19: 4,314,448 (GRCm39)	F369I	probably damaging	Het
Syk	A	G	13: 52,766,495 (GRCm39)		probably null	Het
Tbc1d16	A	G	11: 119,099,742 (GRCm39)	S211P	probably damaging	Het
Ttc3	A	G	16: 94,244,312 (GRCm39)	T1439A	probably benign	Het
Usp18	A	G	6: 121,229,473 (GRCm39)	M31V	probably benign	Het
Vav1	G	T	17: 57,609,330 (GRCm39)	E415D	possibly damaging	Het
Vps13a	A	T	19: 16,655,439 (GRCm39)	V1863D	probably benign	Het
Xdh	T	A	17: 74,229,557 (GRCm39)	I299F	probably damaging	Het
Zc3h14	A	G	12: 98,737,336 (GRCm39)		probably benign	Het
Zfp345	G	A	2: 150,315,331 (GRCm39)	H69Y	probably damaging	Het
Zfp712	A	T	13: 67,188,891 (GRCm39)	Y545*	probably null	Het
Zgrf1	T	C	3: 127,353,281 (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
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
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'- TTTTCCAACATGCTGAAGGCCC -3'
(R):5'- ACTGGCTAGGGCTAATGGTG -3'

Sequencing Primer
(F):5'- CCACAAGGAGAAGTGCTTCCG -3'
(R):5'- TCTCTGCCAGGTGTCTCAGAAAG -3'

Posted On

2018-11-06