Mutagenetix > Incidental Mutation

Incidental Mutation 'R6594:Zfp658'

524773

Institutional Source

Beutler Lab

Gene Symbol

Zfp658

Ensembl Gene

ENSMUSG00000056592

Gene Name

zinc finger protein 658

Synonyms

MMRRC Submission

044718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6594 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43211680-43224885 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43216701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 24 (S24P)

Ref Sequence

ENSEMBL: ENSMUSP00000103606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005597] [ENSMUST00000107972]

AlphaFold

Q5PPQ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005597
AA Change: S24P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000005597
Gene: ENSMUSG00000056592
AA Change: S24P

Domain	Start	End	E-Value	Type
KRAB	23	83	3.7e-27	SMART
ZnF_C2H2	276	295	8.84e1	SMART
ZnF_C2H2	301	323	5.81e-2	SMART
ZnF_C2H2	328	350	1.5e-4	SMART
ZnF_C2H2	356	378	1.84e-4	SMART
ZnF_C2H2	384	406	3.16e-3	SMART
ZnF_C2H2	412	434	1.45e-2	SMART
ZnF_C2H2	440	462	4.87e-4	SMART
ZnF_C2H2	468	490	4.87e-4	SMART
ZnF_C2H2	496	518	6.88e-4	SMART
ZnF_C2H2	524	546	1.69e-3	SMART
ZnF_C2H2	552	574	9.73e-4	SMART
ZnF_C2H2	580	602	1.82e-3	SMART
ZnF_C2H2	608	630	3.16e-3	SMART
ZnF_C2H2	636	658	8.94e-3	SMART
ZnF_C2H2	664	686	3.74e-5	SMART
ZnF_C2H2	692	714	2.99e-4	SMART
ZnF_C2H2	720	742	5.21e-4	SMART
ZnF_C2H2	748	770	2.79e-4	SMART
ZnF_C2H2	776	798	1.58e-3	SMART
ZnF_C2H2	804	826	3.44e-4	SMART
ZnF_C2H2	832	854	5.59e-4	SMART
ZnF_C2H2	860	882	5.81e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107972
AA Change: S24P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103606
Gene: ENSMUSG00000056592
AA Change: S24P

Domain	Start	End	E-Value	Type
KRAB	23	83	3.7e-27	SMART
ZnF_C2H2	276	295	8.84e1	SMART
ZnF_C2H2	301	323	5.81e-2	SMART
ZnF_C2H2	328	350	1.5e-4	SMART
ZnF_C2H2	356	378	1.84e-4	SMART
ZnF_C2H2	384	406	3.16e-3	SMART
ZnF_C2H2	412	434	1.45e-2	SMART
ZnF_C2H2	440	462	4.87e-4	SMART
ZnF_C2H2	468	490	4.87e-4	SMART
ZnF_C2H2	496	518	6.88e-4	SMART
ZnF_C2H2	524	546	1.69e-3	SMART
ZnF_C2H2	552	574	9.73e-4	SMART
ZnF_C2H2	580	602	1.82e-3	SMART
ZnF_C2H2	608	630	3.16e-3	SMART
ZnF_C2H2	636	658	8.94e-3	SMART
ZnF_C2H2	664	686	3.74e-5	SMART
ZnF_C2H2	692	714	2.99e-4	SMART
ZnF_C2H2	720	742	5.21e-4	SMART
ZnF_C2H2	748	770	2.79e-4	SMART
ZnF_C2H2	776	798	1.58e-3	SMART
ZnF_C2H2	804	826	3.44e-4	SMART
ZnF_C2H2	832	854	5.59e-4	SMART
ZnF_C2H2	860	882	5.81e-2	SMART

Meta Mutation Damage Score

0.3121

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,113,432 (GRCm39)	N296S	probably benign	Het
Abca13	A	T	11: 9,244,632 (GRCm39)	N2165I	possibly damaging	Het
Anpep	T	A	7: 79,491,109 (GRCm39)		probably null	Het
Bcl2a1b	A	C	9: 89,089,647 (GRCm39)	I145L	probably benign	Het
Ccar2	G	A	14: 70,377,925 (GRCm39)	L687F	probably damaging	Het
Cd69	A	G	6: 129,246,537 (GRCm39)		probably null	Het
Chchd10	A	C	10: 75,772,158 (GRCm39)	Q43P	probably damaging	Het
Ddx55	A	G	5: 124,704,988 (GRCm39)	E415G	probably damaging	Het
Defa41	A	G	8: 21,692,471 (GRCm39)		probably null	Het
Dhx40	A	T	11: 86,676,599 (GRCm39)	C172S	possibly damaging	Het
Epha1	G	A	6: 42,341,625 (GRCm39)	T475I	probably benign	Het
Eri1	T	C	8: 35,949,687 (GRCm39)	T91A	probably damaging	Het
Fscn1	C	T	5: 142,955,783 (GRCm39)	A158V	probably benign	Het
Gm11437	C	T	11: 84,055,386 (GRCm39)	G77R	probably null	Het
Golm1	T	C	13: 59,812,041 (GRCm39)	N94D	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Haus4	C	A	14: 54,781,268 (GRCm39)	E269D	possibly damaging	Het
Hyou1	T	C	9: 44,300,619 (GRCm39)	M896T	probably benign	Het
Itpr2	T	A	6: 146,091,978 (GRCm39)	M2174L	possibly damaging	Het
Kars1	T	C	8: 112,720,299 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 92,949,035 (GRCm39)	M1488V	probably benign	Het
Lrp2	T	C	2: 69,270,267 (GRCm39)	T4106A	possibly damaging	Het
Lrrc20	G	A	10: 61,318,225 (GRCm39)	V16I	possibly damaging	Het
Mecr	T	A	4: 131,582,004 (GRCm39)	V162E	probably damaging	Het
Ms4a4a	C	A	19: 11,363,778 (GRCm39)	A102E	probably damaging	Het
Mycn	T	C	12: 12,990,051 (GRCm39)	D115G	probably damaging	Het
Ninj2	A	T	6: 120,175,750 (GRCm39)	T138S	possibly damaging	Het
Oasl2	G	A	5: 115,044,836 (GRCm39)	V121I	probably benign	Het
Or10s1	T	C	9: 39,986,239 (GRCm39)	L216P	probably damaging	Het
Or2r11	A	T	6: 42,437,309 (GRCm39)	S215T	probably benign	Het
Or7g19	T	C	9: 18,856,127 (GRCm39)	F61S	probably damaging	Het
Pcdha11	A	C	18: 37,144,235 (GRCm39)	I109L	probably benign	Het
Pira1	T	A	7: 3,739,498 (GRCm39)	K457*	probably null	Het
Pon1	A	G	6: 5,185,314 (GRCm39)	L62P	probably damaging	Het
Rp1l1	A	T	14: 64,269,126 (GRCm39)	K1571*	probably null	Het
Sec24d	G	T	3: 123,087,412 (GRCm39)	G193C	probably damaging	Het
Sema3b	A	T	9: 107,476,025 (GRCm39)	M732K	probably benign	Het
Serpinb8	T	C	1: 107,525,201 (GRCm39)	M1T	probably null	Het
Sgip1	T	A	4: 102,819,676 (GRCm39)	V594E	probably damaging	Het
Slc3a2	T	C	19: 8,685,410 (GRCm39)	S197G	probably damaging	Het
Slc44a5	T	C	3: 153,964,660 (GRCm39)	V520A	possibly damaging	Het
Surf6	G	T	2: 26,792,761 (GRCm39)	D13E	possibly damaging	Het
Tmem94	G	A	11: 115,689,112 (GRCm39)	R1341H	probably damaging	Het
Tns2	G	A	15: 102,018,994 (GRCm39)	R395Q	probably benign	Het
Traf7	A	G	17: 24,728,813 (GRCm39)	V591A	possibly damaging	Het
Trim72	T	C	7: 127,609,220 (GRCm39)	S341P	probably damaging	Het
Trps1	A	G	15: 50,694,351 (GRCm39)	V398A	probably damaging	Het
Ube2m	C	A	7: 12,771,617 (GRCm39)	E14*	probably null	Het
Unc119	T	A	11: 78,238,046 (GRCm39)	Y10N	probably damaging	Het
Ush2a	T	C	1: 188,642,995 (GRCm39)	L4119P	possibly damaging	Het
Vcp	A	T	4: 42,993,826 (GRCm39)	I102N	probably damaging	Het
Vmn2r4	A	G	3: 64,296,731 (GRCm39)	S685P	probably damaging	Het
Vmn2r58	T	C	7: 41,486,535 (GRCm39)	M787V	possibly damaging	Het
Vmn2r72	T	C	7: 85,398,892 (GRCm39)	H487R	probably benign	Het
Xcr1	A	G	9: 123,685,309 (GRCm39)	I151T	probably benign	Het
Zfyve16	T	C	13: 92,650,326 (GRCm39)	D886G	probably benign	Het

Other mutations in Zfp658

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Zfp658	APN	7	43,216,780 (GRCm39)	missense	probably benign	0.03
IGL00475:Zfp658	APN	7	43,223,500 (GRCm39)	missense	possibly damaging	0.68
IGL01972:Zfp658	APN	7	43,222,134 (GRCm39)	nonsense	probably null
IGL03223:Zfp658	APN	7	43,216,735 (GRCm39)	missense	possibly damaging	0.85
R0135:Zfp658	UTSW	7	43,223,019 (GRCm39)	nonsense	probably null
R1863:Zfp658	UTSW	7	43,223,323 (GRCm39)	missense	possibly damaging	0.78
R1962:Zfp658	UTSW	7	43,223,245 (GRCm39)	missense	possibly damaging	0.93
R2698:Zfp658	UTSW	7	43,222,969 (GRCm39)	missense	possibly damaging	0.53
R3781:Zfp658	UTSW	7	43,223,270 (GRCm39)	missense	probably benign
R4791:Zfp658	UTSW	7	43,223,890 (GRCm39)	missense	possibly damaging	0.93
R5392:Zfp658	UTSW	7	43,222,355 (GRCm39)	missense	probably benign	0.07
R6092:Zfp658	UTSW	7	43,223,951 (GRCm39)	missense	possibly damaging	0.73
R7003:Zfp658	UTSW	7	43,224,172 (GRCm39)	missense	possibly damaging	0.85
R7008:Zfp658	UTSW	7	43,223,336 (GRCm39)	missense	possibly damaging	0.95
R7077:Zfp658	UTSW	7	43,223,413 (GRCm39)	missense	probably benign	0.32
R7689:Zfp658	UTSW	7	43,224,102 (GRCm39)	missense	probably benign	0.00
R7793:Zfp658	UTSW	7	43,224,108 (GRCm39)	missense	possibly damaging	0.74
R7939:Zfp658	UTSW	7	43,224,301 (GRCm39)	missense	possibly damaging	0.73
R8672:Zfp658	UTSW	7	43,222,919 (GRCm39)	missense	possibly damaging	0.52
R8828:Zfp658	UTSW	7	43,222,240 (GRCm39)	missense	probably benign
R8995:Zfp658	UTSW	7	43,222,798 (GRCm39)	missense	possibly damaging	0.93
R9021:Zfp658	UTSW	7	43,223,381 (GRCm39)	missense	possibly damaging	0.71
R9259:Zfp658	UTSW	7	43,224,280 (GRCm39)	missense	probably benign	0.02
R9551:Zfp658	UTSW	7	43,222,567 (GRCm39)	missense	probably benign	0.00
R9552:Zfp658	UTSW	7	43,222,567 (GRCm39)	missense	probably benign	0.00
R9571:Zfp658	UTSW	7	43,222,139 (GRCm39)	missense	possibly damaging	0.85
Z1176:Zfp658	UTSW	7	43,222,641 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CTGCTTTGGGGATGAAAATCTGAG -3'
(R):5'- AGGAGGAAATATTTTCAACGAAGCC -3'

Sequencing Primer
(F):5'- CTTTGGGGATGAAAATCTGAGTGTAC -3'
(R):5'- ATATTTTCAACGAAGCCCATCCTG -3'

Posted On

2018-06-22