Mutagenetix > Incidental Mutations

Incidental Mutation 'R6305:Zfp647'

509621

Institutional Source

Beutler Lab

Gene Symbol

Zfp647

Ensembl Gene

ENSMUSG00000054967

Gene Name

zinc finger protein 647

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6305 (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

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]

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,980	S977P	probably damaging	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
Adcy6	T	A	15: 98,598,645	I550L	probably benign	Het
Agbl3	G	A	6: 34,782,210	D19N	unknown	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arhgap39	T	A	15: 76,737,702	D233V	probably benign	Het
Bcl9	G	A	3: 97,205,938	P1067L	possibly damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Casd1	C	T	6: 4,641,892	T723I	probably damaging	Het
Cd209g	T	A	8: 4,136,809	I118N	probably benign	Het
Cdh24	A	T	14: 54,632,356	D701E	possibly damaging	Het
Chd9	C	T	8: 91,030,546	P1858S	possibly damaging	Het
Csnk1g3	T	A	18: 53,932,312	Y322*	probably null	Het
Cyp2f2	G	A	7: 27,129,224	R173H	probably damaging	Het
D130043K22Rik	T	C	13: 24,885,685	F909S	probably damaging	Het
Dll4	T	A	2: 119,330,657	S299T	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsg4	T	A	18: 20,449,790	Y162N	probably damaging	Het
Enpp1	T	C	10: 24,641,882	Y882C	probably damaging	Het
Fam129a	T	C	1: 151,695,718	L248P	probably damaging	Het
Fbxw7	T	A	3: 84,976,323	N520K	probably damaging	Het
Galc	C	T	12: 98,259,290	A14T	possibly damaging	Het
Gm11492	C	T	11: 87,567,319	T173M	probably benign	Het
Grm7	G	A	6: 111,358,665	R679Q	probably damaging	Het
Hnrnpdl	T	C	5: 100,038,658		probably benign	Het
Il12a	A	T	3: 68,694,178	K77N	possibly damaging	Het
Il17rd	C	T	14: 27,095,942	S196L	possibly damaging	Het
Kcnv2	T	C	19: 27,323,837	F363L	probably benign	Het
Lair1	A	G	7: 4,010,728		probably null	Het
Lrit3	G	A	3: 129,800,460	T156I	probably damaging	Het
Me2	T	A	18: 73,791,844	R267S	probably benign	Het
Mga	T	C	2: 119,947,698	V1908A	probably benign	Het
Mylk3	T	A	8: 85,350,419	I463F	probably damaging	Het
Neb	G	A	2: 52,251,763	R75*	probably null	Het
Olfr1080	A	G	2: 86,553,495	S210P	possibly damaging	Het
Olfr339	T	A	2: 36,421,622	S75T	probably damaging	Het
Olfr469	T	G	7: 107,822,657	T271P	probably benign	Het
Olfr516	C	T	7: 108,845,554	G152D	possibly damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr883	TG	TGGTGTTGG	9: 38,026,542		probably null	Het
Pfas	A	G	11: 69,001,197	S162P	possibly damaging	Het
Pip5k1c	T	A	10: 81,315,934	V654E	probably benign	Het
Plxdc1	C	A	11: 97,938,590	C318F	probably damaging	Het
Rbm8a2	T	C	1: 175,978,746	D55G	probably benign	Het
Rexo5	A	T	7: 119,828,125	K419N	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc24a4	C	A	12: 102,222,101	T151K	possibly damaging	Het
Slc6a15	A	T	10: 103,389,170	I40F	probably benign	Het
Slc6a21	T	C	7: 45,280,604	V172A	possibly damaging	Het
Thrap3	A	G	4: 126,180,807		probably benign	Het
Tm9sf3	A	G	19: 41,245,442		probably null	Het
Trp53	A	T	11: 69,588,707	H211L	probably damaging	Het
Ttc21b	A	T	2: 66,188,270	N1264K	probably damaging	Het
Vmn1r120	A	T	7: 21,053,606	V60E	possibly damaging	Het
Ylpm1	A	G	12: 85,030,545	E890G	probably damaging	Het
Zfp934	T	C	13: 62,518,556	Y102C	probably 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	unclassified	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
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
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

Predicted Primers

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

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

Posted On

2018-04-02