Mutagenetix > Incidental Mutations

Incidental Mutation 'R7304:Zfp329'

567162

Institutional Source

Beutler Lab

Gene Symbol

Zfp329

Ensembl Gene

ENSMUSG00000057894

Gene Name

zinc finger protein 329

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12804977-12818858 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12810899 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 233 (I233V)

Ref Sequence

ENSEMBL: ENSMUSP00000072079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072222] [ENSMUST00000108546] [ENSMUST00000121215]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072222
AA Change: I233V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072079
Gene: ENSMUSG00000057894
AA Change: I233V

Domain	Start	End	E-Value	Type
low complexity region	147	160	N/A	INTRINSIC
ZnF_C2H2	184	206	9.58e-3	SMART
ZnF_C2H2	212	234	1.12e-3	SMART
ZnF_C2H2	240	262	1.22e-4	SMART
ZnF_C2H2	268	290	1.95e-3	SMART
ZnF_C2H2	296	318	2.61e-4	SMART
ZnF_C2H2	324	346	5.14e-3	SMART
ZnF_C2H2	352	374	2.24e-3	SMART
ZnF_C2H2	380	402	5.21e-4	SMART
ZnF_C2H2	408	430	1.92e-2	SMART
ZnF_C2H2	436	458	5.21e-4	SMART
ZnF_C2H2	464	486	3.16e-3	SMART
ZnF_C2H2	492	514	2.2e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108546
AA Change: I233V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104186
Gene: ENSMUSG00000057894
AA Change: I233V

Domain	Start	End	E-Value	Type
low complexity region	147	160	N/A	INTRINSIC
ZnF_C2H2	184	206	9.58e-3	SMART
ZnF_C2H2	212	234	1.12e-3	SMART
ZnF_C2H2	240	262	1.22e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121215
AA Change: I233V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113355
Gene: ENSMUSG00000057894
AA Change: I233V

Domain	Start	End	E-Value	Type
low complexity region	147	160	N/A	INTRINSIC
ZnF_C2H2	184	206	9.58e-3	SMART
ZnF_C2H2	212	234	1.12e-3	SMART
ZnF_C2H2	240	262	1.22e-4	SMART
ZnF_C2H2	268	290	1.95e-3	SMART
ZnF_C2H2	296	318	2.61e-4	SMART
ZnF_C2H2	324	346	5.14e-3	SMART
ZnF_C2H2	352	374	2.24e-3	SMART
ZnF_C2H2	380	402	5.21e-4	SMART
ZnF_C2H2	408	430	1.92e-2	SMART
ZnF_C2H2	436	458	5.21e-4	SMART
ZnF_C2H2	464	486	3.16e-3	SMART
ZnF_C2H2	492	514	2.2e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,644	D246G	probably damaging	Het
Abca13	A	G	11: 9,297,203	S2317G	probably benign	Het
Acap2	A	C	16: 31,108,116	L502R	probably benign	Het
Amotl2	A	G	9: 102,728,350	E467G	probably damaging	Het
Apbb1ip	A	T	2: 22,853,135		probably null	Het
Armc9	C	G	1: 86,162,715	D77E	probably benign	Het
Art1	T	A	7: 102,106,324	S8T	possibly damaging	Het
Asic5	G	A	3: 82,009,565	A321T	possibly damaging	Het
Astn2	A	G	4: 66,185,375	I267T	unknown	Het
Bmp8a	T	C	4: 123,342,389	N107S	probably benign	Het
Card14	T	A	11: 119,337,747	L633Q	probably damaging	Het
Chpf	C	T	1: 75,479,054	V18M	possibly damaging	Het
Cog7	T	C	7: 121,937,139	I493V	probably benign	Het
Col3a1	A	T	1: 45,347,811	N1394I	unknown	Het
Crybg1	C	T	10: 43,997,258	D1285N	probably benign	Het
Depdc7	A	G	2: 104,723,118	V395A	possibly damaging	Het
Dido1	G	A	2: 180,687,493	L379F	probably damaging	Het
Dnajc13	G	T	9: 104,238,514	T32N	probably benign	Het
Dok2	T	A	14: 70,776,028	S133R	probably benign	Het
Ehbp1l1	C	T	19: 5,716,382	R1311H	probably damaging	Het
Gm15922	T	C	7: 3,737,494	T243A	probably damaging	Het
Gm3099	A	T	14: 4,000,520	N118I	probably damaging	Het
Gtse1	A	G	15: 85,871,547	T471A	probably benign	Het
Heg1	G	A	16: 33,760,790	A13T	possibly damaging	Het
Ifi209	A	T	1: 173,642,590	Y248F	possibly damaging	Het
Itgb3bp	C	G	4: 99,769,521	E169Q	probably damaging	Het
Kcna2	A	G	3: 107,104,750	T216A	probably benign	Het
Kcnj6	A	T	16: 94,941,183	M10K	probably benign	Het
Krt17	T	G	11: 100,257,337	Q397P	probably benign	Het
Lrtm1	T	A	14: 29,022,118	M181K	probably damaging	Het
Map3k5	A	G	10: 20,099,555	H741R	probably damaging	Het
Mier1	T	A	4: 103,139,402	Y120*	probably null	Het
Mrvi1	T	C	7: 110,899,724	T367A	possibly damaging	Het
Myh14	T	A	7: 44,629,991	T922S	probably benign	Het
Nfkbie	A	T	17: 45,560,141	I240F	possibly damaging	Het
Npas3	C	A	12: 54,069,041	H915Q	probably damaging	Het
Nrg2	A	T	18: 36,045,941	V314E	probably benign	Het
Olfr373	T	A	8: 72,100,346	Y195*	probably null	Het
Pds5a	T	C	5: 65,619,734	N28S	probably damaging	Het
Pkhd1l1	A	T	15: 44,498,482	N517I	possibly damaging	Het
Plekhb1	T	C	7: 100,645,667	Y99C	probably benign	Het
Plpp6	T	C	19: 28,964,217	S73P	probably benign	Het
Polb	T	C	8: 22,639,959	N199S	probably benign	Het
Ppp1r13b	T	C	12: 111,872,406	N13D	possibly damaging	Het
Ptprn2	T	A	12: 117,248,544	V862D	probably damaging	Het
Rassf4	T	C	6: 116,640,317	I242M	probably damaging	Het
Rnf19a	G	A	15: 36,254,452	T320I	probably damaging	Het
Sctr	A	T	1: 120,022,240	E53V	probably damaging	Het
Srcin1	T	C	11: 97,551,693	D103G	probably benign	Het
St3gal3	T	C	4: 117,957,436	Q220R		Het
Stk40	G	A	4: 126,125,690	E86K	probably benign	Het
Tas2r104	T	A	6: 131,685,042	I235F	possibly damaging	Het
Terf2ip	T	C	8: 112,011,648	V56A	possibly damaging	Het
Thsd7b	A	G	1: 130,103,153	N1075S	probably benign	Het
Trak1	A	G	9: 121,416,212	Y51C	probably benign	Het
Trav16n	T	A	14: 53,351,402	V45E	probably benign	Het
Ttc6	T	C	12: 57,576,051	S79P	probably damaging	Het
Unc79	C	T	12: 103,063,190	T484M	probably damaging	Het
Usp49	T	C	17: 47,672,871	V267A	possibly damaging	Het
Vldlr	T	A	19: 27,238,604	D305E	possibly damaging	Het
Vmn1r226	G	T	17: 20,687,749	C81F	probably damaging	Het
Vmn1r73	T	C	7: 11,756,897	V214A	probably damaging	Het
Vmn2r5	T	C	3: 64,504,250	N299S	probably damaging	Het
Vwa3b	T	C	1: 37,164,505	L55S	probably damaging	Het
Wdr90	T	C	17: 25,851,506	D1105G	probably benign	Het
Zbtb38	A	G	9: 96,687,427	S535P	probably damaging	Het
Zfp579	T	A	7: 4,994,583	T110S	probably benign	Het

Other mutations in Zfp329

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02501:Zfp329	APN	7	12811179	missense	possibly damaging	0.87
IGL02830:Zfp329	APN	7	12810116	missense	probably damaging	1.00
R0069:Zfp329	UTSW	7	12810932	missense	probably damaging	0.98
R0069:Zfp329	UTSW	7	12810932	missense	probably damaging	0.98
R0122:Zfp329	UTSW	7	12810987	missense	probably damaging	1.00
R0238:Zfp329	UTSW	7	12810829	missense	probably damaging	1.00
R0238:Zfp329	UTSW	7	12810829	missense	probably damaging	1.00
R0539:Zfp329	UTSW	7	12806593	critical splice acceptor site	probably null
R0570:Zfp329	UTSW	7	12810452	missense	probably damaging	1.00
R0682:Zfp329	UTSW	7	12810284	missense	probably damaging	1.00
R0811:Zfp329	UTSW	7	12811468	missense	probably benign
R0812:Zfp329	UTSW	7	12811468	missense	probably benign
R0944:Zfp329	UTSW	7	12811468	missense	probably benign
R0945:Zfp329	UTSW	7	12811468	missense	probably benign
R0946:Zfp329	UTSW	7	12811468	missense	probably benign
R0948:Zfp329	UTSW	7	12811468	missense	probably benign
R1632:Zfp329	UTSW	7	12810949	missense	possibly damaging	0.63
R1980:Zfp329	UTSW	7	12811468	missense	probably benign
R2172:Zfp329	UTSW	7	12810767	missense	probably damaging	1.00
R2897:Zfp329	UTSW	7	12810486	missense	probably damaging	1.00
R4256:Zfp329	UTSW	7	12807913	missense	probably benign	0.03
R4383:Zfp329	UTSW	7	12811657	start gained	probably benign
R4384:Zfp329	UTSW	7	12811657	start gained	probably benign
R4692:Zfp329	UTSW	7	12810632	missense	probably damaging	1.00
R5260:Zfp329	UTSW	7	12806526	unclassified	probably benign
R5327:Zfp329	UTSW	7	12811494	missense	probably benign	0.04
R5679:Zfp329	UTSW	7	12810031	missense	probably damaging	0.96
R6886:Zfp329	UTSW	7	12810098	missense	probably benign	0.00
R6904:Zfp329	UTSW	7	12806530	unclassified	probably benign
R7564:Zfp329	UTSW	7	12811040	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGAGTGAGGTATGAGCCATC -3'
(R):5'- GCCCTGAGCTCATCTCTTAATG -3'

Sequencing Primer
(F):5'- AATGTCAGTGAAGGGCTTCCC -3'
(R):5'- GGTTTTACACCATCGGAC -3'

Posted On

2019-06-26