Mutagenetix > Incidental Mutation

Incidental Mutation 'R6126:Zfp647'

487419

Institutional Source

Beutler Lab

Gene Symbol

Zfp647

Ensembl Gene

ENSMUSG00000054967

Gene Name

zinc finger protein 647

Synonyms

MMRRC Submission

044273-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6126 (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

93% (51/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 90,056,574	R111H	probably damaging	Het
Alk	G	A	17: 71,875,042	L1329F	possibly damaging	Het
Apoh	A	T	11: 108,397,373	I106F	probably damaging	Het
Atp8a2	C	T	14: 60,044,326	M126I	probably benign	Het
Cactin	G	A	10: 81,324,309	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482	S949P	probably damaging	Het
Clec11a	C	T	7: 44,304,921	A203T	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dst	T	A	1: 34,228,183	I5080K	probably damaging	Het
Ecd	T	C	14: 20,338,425		probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fan1	T	A	7: 64,364,570	K638*	probably null	Het
Fblim1	G	A	4: 141,584,722	R231C	probably damaging	Het
Fig4	A	G	10: 41,265,447	I272T	probably damaging	Het
Foxd2	C	A	4: 114,908,505	G106V	unknown	Het
Ggcx	A	T	6: 72,417,983	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,287,313	R72H	unknown	Het
Gm906	G	T	13: 50,246,290	Q667K	probably benign	Het
Hsf2	T	C	10: 57,495,917	V38A	probably damaging	Het
Ifi208	A	G	1: 173,677,708	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,530,374	L390R	probably damaging	Het
Kif1a	A	T	1: 93,019,899	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,166,876	T267K	probably benign	Het
Mfsd8	A	G	3: 40,832,011		probably null	Het
Mnx1	G	T	5: 29,478,112	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,801,232	I949F	possibly damaging	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 125,735,887		probably null	Het
Olfr530	T	G	7: 140,373,253	Y119S	probably damaging	Het
Otx1	T	C	11: 21,996,457		probably benign	Het
Panx1	T	A	9: 15,007,790	I258F	probably benign	Het
Pask	T	C	1: 93,314,359	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,170,529	K265R	probably benign	Het
Phf20l1	A	G	15: 66,636,824	H844R	probably benign	Het
Ppp6r1	T	C	7: 4,643,377	T136A	possibly damaging	Het
Rab35	A	G	5: 115,645,708	N185D	probably benign	Het
Rdh1	A	T	10: 127,763,214	D188V	probably damaging	Het
Rimbp3	A	T	16: 17,212,276	D1188V	probably benign	Het
Robo2	C	T	16: 73,920,682	G100S	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Ryr1	A	C	7: 29,076,239	D2282E	probably null	Het
Ryr3	A	G	2: 112,757,670	L2642P	probably damaging	Het
Sez6	A	T	11: 77,973,804	Y530F	probably damaging	Het
Slc12a2	A	G	18: 57,944,044	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,226,265	H49L	probably benign	Het
Smchd1	A	T	17: 71,370,285	V1503D	probably damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Tex15	A	G	8: 33,573,563	N1007S	probably benign	Het
Tpk1	A	T	6: 43,423,660	C143S	probably damaging	Het
Wdr20	A	T	12: 110,794,102	H474L	probably benign	Het
Wnk4	A	G	11: 101,276,348		probably benign	Het
Zfp292	T	C	4: 34,808,497	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573	A2121T	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
R6127:Zfp647	UTSW	15	76912085	missense	probably damaging	0.96
R6129: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'- GCACTTTCCACACTCAATGCAG -3'
(R):5'- ACTGTGAAGCAAAGCCAGC -3'

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

Posted On

2017-10-10