Mutagenetix > Incidental Mutation

Incidental Mutation 'R3943:Zfp947'

307565

Institutional Source

Beutler Lab

Gene Symbol

Zfp947

Ensembl Gene

ENSMUSG00000063383

Gene Name

zinc finger protein 947

Synonyms

Gm4769

MMRRC Submission

040924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R3943 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

22363336-22385153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22364801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 291 (G291V)

Ref Sequence

ENSEMBL: ENSMUSP00000079137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080249]

AlphaFold

Q8BIQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080249
AA Change: G291V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079137
Gene: ENSMUSG00000063383
AA Change: G291V

Domain	Start	End	E-Value	Type
KRAB	13	73	9.26e-19	SMART
ZnF_C2H2	183	205	7.05e-1	SMART
ZnF_C2H2	211	233	1.5e-4	SMART
ZnF_C2H2	239	261	7.67e-2	SMART
ZnF_C2H2	267	289	2.79e-4	SMART
ZnF_C2H2	295	317	5.59e-4	SMART
ZnF_C2H2	323	345	4.24e-4	SMART
ZnF_C2H2	351	373	3.21e-4	SMART
ZnF_C2H2	379	401	5.99e-4	SMART
ZnF_C2H2	407	429	8.02e-5	SMART

Meta Mutation Damage Score

0.4174

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	A	G	2: 168,026,980 (GRCm39)	I105T	possibly damaging	Het
Atf3	A	G	1: 190,903,713 (GRCm39)	I171T	possibly damaging	Het
Atp6v0a1	A	G	11: 100,946,343 (GRCm39)	I773V	probably benign	Het
Bltp2	T	A	11: 78,160,350 (GRCm39)	L603*	probably null	Het
Cad	T	A	5: 31,229,729 (GRCm39)		probably null	Het
Camkv	T	A	9: 107,825,182 (GRCm39)	D366E	possibly damaging	Het
Dnah8	T	A	17: 30,913,039 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,880,668 (GRCm39)	S932P	probably damaging	Het
Fam227a	C	T	15: 79,505,060 (GRCm39)		probably benign	Het
Fbp2	A	G	13: 62,989,607 (GRCm39)	F233S	possibly damaging	Het
Gnptab	G	T	10: 88,269,756 (GRCm39)	V820L	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpr158	C	A	2: 21,373,370 (GRCm39)	R102S	possibly damaging	Het
Gramd1b	A	T	9: 40,442,340 (GRCm39)	M1K	probably null	Het
H2-T23	A	G	17: 36,341,535 (GRCm39)	V312A	probably benign	Het
Hltf	A	T	3: 20,146,908 (GRCm39)	I494F	probably damaging	Het
Il16	G	A	7: 83,301,223 (GRCm39)	L300F	probably damaging	Het
Insyn1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,406,715 (GRCm39)		probably benign	Het
Kcnq1	T	C	7: 142,979,825 (GRCm39)	L657P	probably damaging	Het
Krt4	G	A	15: 101,829,685 (GRCm39)	T281M	probably benign	Het
Mia3	A	G	1: 183,140,127 (GRCm39)	F196S	possibly damaging	Het
Naip6	T	C	13: 100,431,247 (GRCm39)	T1197A	probably benign	Het
Nrxn2	T	A	19: 6,523,365 (GRCm39)	N204K	probably damaging	Het
Or7g27	T	A	9: 19,250,371 (GRCm39)	M205K	probably benign	Het
Rassf6	G	T	5: 90,752,185 (GRCm39)	Q258K	possibly damaging	Het
Rhpn1	T	C	15: 75,583,655 (GRCm39)	L380P	probably damaging	Het
Ribc2	A	G	15: 85,019,451 (GRCm39)	M78V	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint5	T	A	4: 113,799,950 (GRCm39)	H73L	probably damaging	Het
Smg6	G	A	11: 74,820,367 (GRCm39)	G213R	probably damaging	Het
Sspn	T	A	6: 145,880,083 (GRCm39)	W62R	probably damaging	Het
Stard9	A	G	2: 120,528,710 (GRCm39)	S1656G	probably benign	Het
Svep1	T	A	4: 58,084,807 (GRCm39)		probably null	Het
Tab1	T	C	15: 80,037,941 (GRCm39)	L258P	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Trf	T	A	9: 103,100,151 (GRCm39)	I271F	probably benign	Het
Trpm7	A	T	2: 126,673,138 (GRCm39)	N538K	possibly damaging	Het
Usp28	T	A	9: 48,911,666 (GRCm39)	L25I	probably benign	Het
Vmn2r14	A	T	5: 109,363,930 (GRCm39)	I662N	probably damaging	Het
Vmn2r42	A	T	7: 8,197,779 (GRCm39)	F280Y	possibly damaging	Het
Vps8	A	T	16: 21,288,873 (GRCm39)	N411Y	probably damaging	Het
Vwa2	T	G	19: 56,897,747 (GRCm39)	L684R	probably damaging	Het
Zfp712	T	C	13: 67,189,396 (GRCm39)	Q377R	probably benign	Het
Zpld2	T	C	4: 133,927,656 (GRCm39)	T366A	probably benign	Het

Other mutations in Zfp947

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02092:Zfp947	APN	17	22,366,477 (GRCm39)	missense	probably damaging	1.00
IGL02592:Zfp947	APN	17	22,365,233 (GRCm39)	missense	possibly damaging	0.95
deformity	UTSW	17	22,364,594 (GRCm39)	missense	probably damaging	1.00
Gnarled	UTSW	17	22,365,165 (GRCm39)	missense	probably benign	0.00
R0070:Zfp947	UTSW	17	22,365,165 (GRCm39)	missense	probably benign	0.00
R1519:Zfp947	UTSW	17	22,365,273 (GRCm39)	missense	probably benign	0.02
R1521:Zfp947	UTSW	17	22,364,813 (GRCm39)	missense	probably benign	0.00
R1639:Zfp947	UTSW	17	22,365,074 (GRCm39)	missense	probably benign
R1721:Zfp947	UTSW	17	22,365,184 (GRCm39)	missense	probably benign
R1801:Zfp947	UTSW	17	22,365,443 (GRCm39)	missense	probably benign
R2264:Zfp947	UTSW	17	22,364,919 (GRCm39)	missense	probably benign
R4561:Zfp947	UTSW	17	22,365,124 (GRCm39)	nonsense	probably null
R4562:Zfp947	UTSW	17	22,365,124 (GRCm39)	nonsense	probably null
R4943:Zfp947	UTSW	17	22,364,813 (GRCm39)	missense	probably benign
R5688:Zfp947	UTSW	17	22,365,066 (GRCm39)	missense	probably benign	0.00
R6037:Zfp947	UTSW	17	22,366,415 (GRCm39)	missense	probably damaging	0.99
R6037:Zfp947	UTSW	17	22,366,415 (GRCm39)	missense	probably damaging	0.99
R6414:Zfp947	UTSW	17	22,365,395 (GRCm39)	missense	probably damaging	0.98
R6786:Zfp947	UTSW	17	22,364,750 (GRCm39)	missense	probably benign	0.01
R6993:Zfp947	UTSW	17	22,364,961 (GRCm39)	missense	probably benign	0.11
R7556:Zfp947	UTSW	17	22,364,597 (GRCm39)	missense	probably benign
R8224:Zfp947	UTSW	17	22,364,363 (GRCm39)	missense	probably benign
R8398:Zfp947	UTSW	17	22,365,102 (GRCm39)	missense	probably benign	0.03
R8670:Zfp947	UTSW	17	22,364,687 (GRCm39)	missense	probably benign	0.09
R8871:Zfp947	UTSW	17	22,364,695 (GRCm39)	missense	probably benign	0.13
R9000:Zfp947	UTSW	17	22,365,161 (GRCm39)	missense	probably benign	0.12
R9099:Zfp947	UTSW	17	22,364,855 (GRCm39)	missense	probably benign	0.00
R9180:Zfp947	UTSW	17	22,364,386 (GRCm39)	missense	probably damaging	1.00
R9287:Zfp947	UTSW	17	22,364,594 (GRCm39)	missense	probably damaging	1.00
R9371:Zfp947	UTSW	17	22,364,384 (GRCm39)	missense	possibly damaging	0.63
R9507:Zfp947	UTSW	17	22,364,582 (GRCm39)	missense	probably benign	0.00
R9738:Zfp947	UTSW	17	22,365,341 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTAAGACTGCCTTTGTGGGAAA -3'
(R):5'- AAAGAAACCCTCATGTTGAAACA -3'

Sequencing Primer
(F):5'- CCTTTGTGGGAAAAGTATTTGTCAC -3'
(R):5'- ATCAGATGCGTCATTCAGGC -3'

Posted On

2015-04-17