Mutagenetix > Incidental Mutation

Incidental Mutation 'R6074:Zfp647'

482668

Institutional Source

Beutler Lab

Gene Symbol

Zfp647

Ensembl Gene

ENSMUSG00000054967

Gene Name

zinc finger protein 647

Synonyms

MMRRC Submission

044235-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6074 (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: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo1	T	A	3: 108,191,693	C189*	probably null	Het
Auts2	G	T	5: 131,476,989		probably benign	Het
Cadps2	C	A	6: 23,626,671	W177L	probably damaging	Het
Camk2b	G	T	11: 5,989,635	P223Q	probably damaging	Het
Ccdc74a	C	A	16: 17,646,727	S9*	probably null	Het
Ccnt1	A	C	15: 98,543,324	Y688D	probably damaging	Het
Cdhr1	T	C	14: 37,079,643	N781S	probably benign	Het
Ceacam3	C	T	7: 17,151,559	T29I	probably benign	Het
Cep170b	T	C	12: 112,744,155	S1473P	probably damaging	Het
Col19a1	T	A	1: 24,526,483	T256S	unknown	Het
Eif2d	T	A	1: 131,166,342	D423E	probably damaging	Het
Fam13a	A	G	6: 58,989,738		probably null	Het
Fam84a	G	A	12: 14,150,511	H72Y	probably benign	Het
Gaa	G	A	11: 119,284,186	R871H	probably benign	Het
Galnt12	T	A	4: 47,112,405	V37D	probably damaging	Het
Glp2r	A	G	11: 67,746,814	S13P	unknown	Het
Gnptab	C	T	10: 88,433,078	L548F	probably damaging	Het
Heg1	C	T	16: 33,727,203	P787S	possibly damaging	Het
Hivep2	T	A	10: 14,131,741	M1361K	probably benign	Het
Hivep3	T	C	4: 120,097,694	I1069T	possibly damaging	Het
Hspg2	A	G	4: 137,540,735	D2121G	probably benign	Het
Htatip2	A	G	7: 49,772,574		probably null	Het
Ighv1-75	T	C	12: 115,834,387	S4G	probably benign	Het
Ip6k1	A	G	9: 108,024,109		probably benign	Het
Kcna6	A	G	6: 126,739,279	S216P	probably benign	Het
Kif21a	T	A	15: 90,980,892	T526S	probably benign	Het
Kng2	C	T	16: 23,000,596	G230D	probably benign	Het
Lgi2	A	T	5: 52,546,642	F216I	probably benign	Het
Lss	T	A	10: 76,543,859	N383K	probably damaging	Het
Mical1	T	C	10: 41,486,065	M929T	probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Nat8f4	A	G	6: 85,901,187	V118A	probably damaging	Het
Olfr1198	A	C	2: 88,746,222	L222R	probably damaging	Het
Olfr1416	G	A	1: 92,479,775	T282M	probably benign	Het
Olfr16	T	A	1: 172,957,378	N194K	probably benign	Het
Osbpl11	T	A	16: 33,209,965	S188T	probably benign	Het
Pea15a	C	T	1: 172,199,185	R85H	possibly damaging	Het
Ppp1r13b	A	G	12: 111,832,402	I919T	probably damaging	Het
Rasgrf1	A	G	9: 89,953,915	D232G	probably benign	Het
Rp1	A	G	1: 4,345,379	S1837P	probably benign	Het
Samd5	T	A	10: 9,674,590	Y125F	possibly damaging	Het
Skint5	T	C	4: 113,805,200	T597A	unknown	Het
Slc25a12	A	G	2: 71,276,454	F605L	probably benign	Het
Slc39a12	C	T	2: 14,407,479	Q321*	probably null	Het
Slc6a19	T	C	13: 73,689,763	S206G	probably benign	Het
Tacc2	T	A	7: 130,625,435	H1283Q	possibly damaging	Het
Thumpd3	A	G	6: 113,060,010	E290G	possibly damaging	Het
Timd2	C	T	11: 46,687,172	G44D	possibly damaging	Het
Tmem74	A	G	15: 43,866,738	V303A	possibly damaging	Het
Tpo	A	G	12: 30,078,187	V785A	probably benign	Het
Tpra1	T	A	6: 88,911,937	I367N	possibly damaging	Het
Txnrd2	T	C	16: 18,437,547	I95T	probably damaging	Het
Usp32	A	G	11: 84,994,573	V1216A	probably benign	Het
Usp54	C	A	14: 20,552,099	M1394I	probably benign	Het
Vmn2r13	A	G	5: 109,174,301	F177L	probably benign	Het
Vmn2r82	T	A	10: 79,396,543	V792E	probably damaging	Het
Wdfy4	C	T	14: 33,083,639		probably null	Het
Wnk2	A	T	13: 49,051,399	C458S	probably damaging	Het
Xkr6	T	G	14: 63,607,070	F181V	possibly damaging	Het
Zfp212	T	A	6: 47,927,052	C149*	probably null	Het
Zfp661	A	G	2: 127,577,873	S116P	probably benign	Het
Zfp770	A	G	2: 114,196,389	Y400H	possibly damaging	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
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
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'- GCTCCGACCAAAGCACTTTC -3'
(R):5'- CCAGCATTAAGATTGTACTCAGCAG -3'

Posted On

2017-07-14