Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Zfp647'

460575

Institutional Source

Beutler Lab

Gene Symbol

Zfp647

Ensembl Gene

ENSMUSG00000054967

Gene Name

zinc finger protein 647

Synonyms

MMRRC Submission

044137-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R5945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76794571-76809648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76796285 bp (GRCm39)

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: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,601 (GRCm39)		noncoding transcript	Het
Abca13	C	T	11: 9,243,398 (GRCm39)	H1754Y	probably benign	Het
Abi1	T	C	2: 22,929,977 (GRCm39)	E34G	probably damaging	Het
Apobec3	C	T	15: 79,782,047 (GRCm39)	T19I	probably damaging	Het
Arel1	C	A	12: 84,973,121 (GRCm39)	V559L	probably benign	Het
Arhgef10	T	C	8: 15,030,028 (GRCm39)		probably null	Het
Asb6	T	C	2: 30,718,215 (GRCm39)		probably benign	Het
Asxl2	T	C	12: 3,550,439 (GRCm39)	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,055,995 (GRCm39)	R1100L	probably benign	Het
Atp6v1a	A	G	16: 43,920,309 (GRCm39)	V429A	probably damaging	Het
Caml	A	G	13: 55,776,445 (GRCm39)	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,543,958 (GRCm39)	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,643,194 (GRCm39)	E400G	probably damaging	Het
Ces1h	T	A	8: 94,090,254 (GRCm39)	E266V	probably benign	Het
Chd5	G	T	4: 152,464,408 (GRCm39)	Q1522H	probably benign	Het
CN725425	T	A	15: 91,129,980 (GRCm39)	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579 (GRCm39)	E62V	probably null	Het
Cops5	T	A	1: 10,108,235 (GRCm39)		probably benign	Het
Crhr2	T	A	6: 55,077,667 (GRCm39)	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Ddx31	T	A	2: 28,749,902 (GRCm39)	I308N	probably damaging	Het
Efcab14	T	A	4: 115,613,664 (GRCm39)	V204D	probably damaging	Het
Emsy	T	C	7: 98,268,590 (GRCm39)	T484A	probably damaging	Het
Ep400	A	T	5: 110,830,732 (GRCm39)	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,961,783 (GRCm39)	Q420L	possibly damaging	Het
Fat4	A	G	3: 39,037,355 (GRCm39)	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,004,211 (GRCm39)	T607K	probably damaging	Het
Glod4	T	C	11: 76,125,297 (GRCm39)	Y135C	probably damaging	Het
Gm10912	A	G	2: 103,896,961 (GRCm39)	I33M	possibly damaging	Het
Gm5592	T	C	7: 40,865,036 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,456,122 (GRCm39)	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,771,518 (GRCm39)	E220G	probably benign	Het
Itga1	T	G	13: 115,103,126 (GRCm39)	N1102H	probably benign	Het
Itpk1	A	G	12: 102,554,812 (GRCm39)	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,636,148 (GRCm39)	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,296,012 (GRCm39)		probably null	Het
Kif24	G	A	4: 41,428,670 (GRCm39)	Q97*	probably null	Het
Klhl2	T	C	8: 65,202,762 (GRCm39)	I479V	probably benign	Het
Large1	T	C	8: 73,578,828 (GRCm39)	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,545,509 (GRCm39)	L169R	probably damaging	Het
Loxl3	T	G	6: 83,014,492 (GRCm39)	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,413,529 (GRCm39)	Y4H	unknown	Het
Marchf7	A	G	2: 60,071,331 (GRCm39)	K612E	probably damaging	Het
Mreg	C	T	1: 72,231,359 (GRCm39)	G33D	probably benign	Het
Ms4a6c	A	C	19: 11,457,863 (GRCm39)		probably benign	Het
Nrbf2	G	A	10: 67,103,299 (GRCm39)	S268F	possibly damaging	Het
Oog4	T	A	4: 143,164,293 (GRCm39)	I341F	probably benign	Het
Or4k5	A	G	14: 50,386,220 (GRCm39)	V37A	probably benign	Het
Or5h26	A	G	16: 58,988,482 (GRCm39)	L8P	probably benign	Het
Or5h27	C	T	16: 59,006,091 (GRCm39)	V252I	unknown	Het
Or5l14	A	T	2: 87,792,946 (GRCm39)	C97S	probably damaging	Het
Pcdhb5	G	A	18: 37,454,523 (GRCm39)	R301Q	probably benign	Het
Podn	T	C	4: 107,878,910 (GRCm39)	K174R	possibly damaging	Het
Pphln1	T	C	15: 93,353,413 (GRCm39)		probably null	Het
Ppp2r1a	C	G	17: 21,179,675 (GRCm39)	H112D	possibly damaging	Het
Prmt5	A	G	14: 54,752,344 (GRCm39)	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,721,233 (GRCm39)		probably benign	Het
Rgl2	A	G	17: 34,151,012 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,675,008 (GRCm39)	I3373N	probably damaging	Het
Scap	A	G	9: 110,213,664 (GRCm39)	N1209S	probably benign	Het
Sin3b	T	C	8: 73,457,793 (GRCm39)	S170P	probably damaging	Het
Slc22a4	A	T	11: 53,886,854 (GRCm39)	I296N	probably damaging	Het
Slco1a8	T	A	6: 141,940,008 (GRCm39)	N145I	probably damaging	Het
Slco2a1	T	C	9: 102,923,989 (GRCm39)	S68P	probably damaging	Het
Snx8	A	G	5: 140,339,235 (GRCm39)	C161R	probably benign	Het
Spryd3	C	T	15: 102,026,630 (GRCm39)	C347Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Strn3	T	C	12: 51,676,279 (GRCm39)	T333A	probably benign	Het
Swt1	T	A	1: 151,286,921 (GRCm39)	E190D	probably benign	Het
Tchh	A	T	3: 93,352,644 (GRCm39)	I695F	unknown	Het
Tfap4	G	A	16: 4,363,493 (GRCm39)	S314L	possibly damaging	Het
Tigd3	G	T	19: 5,941,894 (GRCm39)	T412K	probably benign	Het
Tmem184b	T	A	15: 79,249,681 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,968,359 (GRCm39)	D469G	probably benign	Het
Tssk1	T	C	16: 17,712,565 (GRCm39)	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,565,471 (GRCm39)	M313K	probably damaging	Het
Tubgcp6	T	C	15: 88,993,420 (GRCm39)		probably null	Het
Vav1	A	G	17: 57,608,870 (GRCm39)	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,310,641 (GRCm39)	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,269,614 (GRCm39)	L892*	probably null	Het
Zfp46	T	A	4: 136,014,528 (GRCm39)	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,401,841 (GRCm39)	P99Q	probably benign	Het
Zfp990	T	A	4: 145,264,613 (GRCm39)	I537N	probably damaging	Het

Other mutations in Zfp647

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01565:Zfp647	APN	15	76,795,870 (GRCm39)	nonsense	probably null
IGL01680:Zfp647	APN	15	76,801,968 (GRCm39)	splice site	probably benign
IGL02647:Zfp647	APN	15	76,801,915 (GRCm39)	missense	probably damaging	1.00
IGL03213:Zfp647	APN	15	76,796,177 (GRCm39)	missense	possibly damaging	0.46
IGL03401:Zfp647	APN	15	76,795,568 (GRCm39)	missense	probably damaging	1.00
R0418:Zfp647	UTSW	15	76,795,586 (GRCm39)	missense	probably damaging	1.00
R1479:Zfp647	UTSW	15	76,795,403 (GRCm39)	missense	possibly damaging	0.94
R1913:Zfp647	UTSW	15	76,796,151 (GRCm39)	missense	probably benign	0.02
R1959:Zfp647	UTSW	15	76,795,314 (GRCm39)	missense	possibly damaging	0.57
R2176:Zfp647	UTSW	15	76,795,860 (GRCm39)	missense	probably damaging	1.00
R3076:Zfp647	UTSW	15	76,802,209 (GRCm39)	start codon destroyed	probably null
R3077:Zfp647	UTSW	15	76,802,209 (GRCm39)	start codon destroyed	probably null
R3701:Zfp647	UTSW	15	76,795,110 (GRCm39)	missense	probably damaging	1.00
R3702:Zfp647	UTSW	15	76,795,110 (GRCm39)	missense	probably damaging	1.00
R3960:Zfp647	UTSW	15	76,795,176 (GRCm39)	splice site	probably null
R4938:Zfp647	UTSW	15	76,795,244 (GRCm39)	frame shift	probably null
R4939:Zfp647	UTSW	15	76,795,244 (GRCm39)	frame shift	probably null
R5196:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5197:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5345:Zfp647	UTSW	15	76,795,695 (GRCm39)	missense	possibly damaging	0.48
R5415:Zfp647	UTSW	15	76,795,593 (GRCm39)	missense	possibly damaging	0.79
R5791:Zfp647	UTSW	15	76,802,206 (GRCm39)	missense	unknown
R5942:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5944:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5946:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5947:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6005:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6007:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6073:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6074:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6101:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6102:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6103:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6126:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6127:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6129:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6136:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6151:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6305:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6306:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6329:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6721:Zfp647	UTSW	15	76,796,076 (GRCm39)	missense	probably benign	0.00
R7158:Zfp647	UTSW	15	76,801,505 (GRCm39)	missense	probably benign	0.01
R7239:Zfp647	UTSW	15	76,795,956 (GRCm39)	missense	probably damaging	1.00
R7611:Zfp647	UTSW	15	76,795,988 (GRCm39)	missense	probably damaging	1.00
R8066:Zfp647	UTSW	15	76,796,095 (GRCm39)	missense	probably damaging	0.98
R8170:Zfp647	UTSW	15	76,795,571 (GRCm39)	missense	possibly damaging	0.87
R8346:Zfp647	UTSW	15	76,795,928 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTTTCCACACTCAATGC -3'
(R):5'- TCACATGGGAGACTGTGAAGC -3'

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

Posted On

2017-02-28