Mutagenetix > Incidental Mutation

Incidental Mutation 'R6129:Zfp647'

487595

Institutional Source

Beutler Lab

Gene Symbol

Zfp647

Ensembl Gene

ENSMUSG00000054967

Gene Name

zinc finger protein 647

Synonyms

MMRRC Submission

044276-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R6129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76910371-76925448 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76912085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 125 (P125L)

Ref Sequence

ENSEMBL: ENSMUSP00000155272 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048854] [ENSMUST00000229055] [ENSMUST00000229865]

AlphaFold

Q7TNU6

Predicted Effect

probably benign
Transcript: ENSMUST00000048854
AA Change: P125L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967
AA Change: P125L

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
KRAB	17	77	7.05e-33	SMART
ZnF_C2H2	174	196	3.39e-3	SMART
ZnF_C2H2	202	224	1.2e-3	SMART
ZnF_C2H2	230	252	2.95e-3	SMART
ZnF_C2H2	258	280	4.79e-3	SMART
ZnF_C2H2	286	308	1.84e-4	SMART
ZnF_C2H2	314	336	6.32e-3	SMART
ZnF_C2H2	342	364	7.37e-4	SMART
ZnF_C2H2	370	392	1.6e-4	SMART
ZnF_C2H2	398	420	2.2e-2	SMART
ZnF_C2H2	426	448	6.78e-3	SMART
ZnF_C2H2	454	476	4.87e-4	SMART
ZnF_C2H2	482	504	2.24e-3	SMART
ZnF_C2H2	510	532	9.08e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229055
AA Change: P125L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229865
AA Change: P125L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.1789

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	A	11: 69,898,311	Y354F	probably damaging	Het
Aatk	C	T	11: 120,021,533	G29S	probably damaging	Het
Acsm2	G	A	7: 119,591,247		probably null	Het
Adgrl1	A	G	8: 83,918,987	N80D	probably damaging	Het
Ankrd34a	T	A	3: 96,597,958	Y159*	probably null	Het
BC067074	T	A	13: 113,368,806	Y2156*	probably null	Het
Bcl2l2	G	A	14: 54,884,745	V122M	possibly damaging	Het
Brms1l	A	G	12: 55,868,185	H293R	probably benign	Het
Clec4b1	A	G	6: 123,068,502	T94A	possibly damaging	Het
Crim1	A	G	17: 78,281,309	D271G	probably benign	Het
Csmd2	G	A	4: 128,493,334	G2141S	possibly damaging	Het
Ctnnal1	C	A	4: 56,829,573	A419S	possibly damaging	Het
Cyp27a1	G	A	1: 74,735,692	R264H	probably benign	Het
Cyr61	T	C	3: 145,649,231	I90V	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dsc2	T	A	18: 20,045,430	T306S	possibly damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ermp1	A	T	19: 29,623,209	Y586N	possibly damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm5114	C	T	7: 39,408,600	A532T	possibly damaging	Het
Gm5431	A	G	11: 48,889,591	L168P	probably damaging	Het
Hao2	T	C	3: 98,880,526	T196A	probably benign	Het
Hdac9	A	C	12: 34,287,475	L669R	probably damaging	Het
Hps5	A	G	7: 46,771,774	V755A	probably benign	Het
Jag2	G	T	12: 112,920,349	Y203*	probably null	Het
Lrrn3	G	A	12: 41,453,788	Q177*	probably null	Het
Me1	A	T	9: 86,650,956	V151E	probably damaging	Het
Mkx	A	G	18: 6,992,888	V132A	probably damaging	Het
Mycbp2	A	G	14: 103,285,400	S643P	probably benign	Het
Mysm1	C	A	4: 94,967,955	R135L	probably damaging	Het
Nup210l	T	C	3: 90,104,176	F4L	probably benign	Het
Pappa2	A	T	1: 158,714,997	C1773*	probably null	Het
Pcbp3	T	C	10: 76,763,348	E318G	probably damaging	Het
Pcdh12	T	C	18: 38,277,859	K984E	probably damaging	Het
Pcna-ps2	A	G	19: 9,284,015	N213D	possibly damaging	Het
Pde8b	G	A	13: 95,041,959	A509V	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phf7	A	G	14: 31,240,863	Y137H	probably damaging	Het
Pkd1l1	A	G	11: 8,868,543	V1315A	probably benign	Het
Plxnd1	A	G	6: 115,978,174	C571R	probably damaging	Het
Ppp1r12b	C	T	1: 134,892,252	W251*	probably null	Het
Prps1l1	A	G	12: 34,985,330	E148G	probably damaging	Het
Robo1	A	T	16: 73,013,068	M1235L	probably benign	Het
Robo3	A	G	9: 37,423,293	Y592H	probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Rufy1	A	T	11: 50,417,248	L259Q	probably damaging	Het
Rusc2	T	C	4: 43,424,271	F1112S	probably damaging	Het
Sap130	T	C	18: 31,682,091	V622A	possibly damaging	Het
Sptbn4	C	A	7: 27,360,088	C1124F	probably damaging	Het
Stk10	T	A	11: 32,615,871	C872S	probably damaging	Het
Tex15	A	T	8: 33,574,130	N1196I	possibly damaging	Het
Tnxa	A	G	17: 34,800,288		probably benign	Het
Zscan4b	T	A	7: 10,901,888	T171S	probably benign	Het

Other mutations in Zfp647

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01565:Zfp647	APN	15	76911670	nonsense	probably null
IGL01680:Zfp647	APN	15	76917768	splice site	probably benign
IGL02647:Zfp647	APN	15	76917715	missense	probably damaging	1.00
IGL03213:Zfp647	APN	15	76911977	missense	possibly damaging	0.46
IGL03401:Zfp647	APN	15	76911368	missense	probably damaging	1.00
R0418:Zfp647	UTSW	15	76911386	missense	probably damaging	1.00
R1479:Zfp647	UTSW	15	76911203	missense	possibly damaging	0.94
R1913:Zfp647	UTSW	15	76911951	missense	probably benign	0.02
R1959:Zfp647	UTSW	15	76911114	missense	possibly damaging	0.57
R2176:Zfp647	UTSW	15	76911660	missense	probably damaging	1.00
R3076:Zfp647	UTSW	15	76918009	start codon destroyed	probably null
R3077:Zfp647	UTSW	15	76918009	start codon destroyed	probably null
R3701:Zfp647	UTSW	15	76910910	missense	probably damaging	1.00
R3702:Zfp647	UTSW	15	76910910	missense	probably damaging	1.00
R3960:Zfp647	UTSW	15	76910976	splice site	probably null
R4938:Zfp647	UTSW	15	76911044	frame shift	probably null
R4939:Zfp647	UTSW	15	76911044	frame shift	probably null
R5196:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R5197:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R5345:Zfp647	UTSW	15	76911495	missense	possibly damaging	0.48
R5415:Zfp647	UTSW	15	76911393	missense	possibly damaging	0.79
R5791:Zfp647	UTSW	15	76918006	missense	unknown
R5942:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R5944:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R5945:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R5946:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R5947:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6005:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6007:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6073:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6074:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6101:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6102:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6103:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6126:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6127:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6136:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6151:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6305:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6306:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6329:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6721:Zfp647	UTSW	15	76911876	missense	probably benign	0.00
R7158:Zfp647	UTSW	15	76917305	missense	probably benign	0.01
R7239:Zfp647	UTSW	15	76911756	missense	probably damaging	1.00
R7611:Zfp647	UTSW	15	76911788	missense	probably damaging	1.00
R8066:Zfp647	UTSW	15	76911895	missense	probably damaging	0.98
R8170:Zfp647	UTSW	15	76911371	missense	possibly damaging	0.87
R8346:Zfp647	UTSW	15	76911728	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCCGACCAAAGCACTTTC -3'
(R):5'- AGCCAGCATTAAGATTGTACTCAG -3'

Sequencing Primer
(F):5'- TTCCACACTCAATGCAGATATAGGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'

Posted On

2017-10-10