Mutagenetix > Incidental Mutations

Incidental Mutation 'R3723:Zfp30'

270628

Institutional Source

Beutler Lab

Gene Symbol

Zfp30

Ensembl Gene

ENSMUSG00000047473

Gene Name

zinc finger protein 30

Synonyms

Zfp-30, 2610306P15Rik

MMRRC Submission

040714-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29783998-29794702 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29793353 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 344 (E344G)

Ref Sequence

ENSEMBL: ENSMUSP00000113426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032803] [ENSMUST00000122387]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032803
AA Change: E425G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032803
Gene: ENSMUSG00000047473
AA Change: E425G

Domain	Start	End	E-Value	Type
KRAB	21	82	4.61e-37	SMART
ZnF_C2H2	187	209	5.9e-3	SMART
ZnF_C2H2	215	237	7.78e-3	SMART
ZnF_C2H2	243	265	5.06e-2	SMART
ZnF_C2H2	271	293	1.47e-3	SMART
ZnF_C2H2	299	319	3.72e0	SMART
ZnF_C2H2	327	349	3.24e0	SMART
ZnF_C2H2	355	377	3.89e-3	SMART
ZnF_C2H2	383	405	4.79e-3	SMART
ZnF_C2H2	411	433	1.36e-2	SMART
ZnF_C2H2	439	461	1.36e-2	SMART
ZnF_C2H2	467	489	7.26e-3	SMART
ZnF_C2H2	495	517	2.09e-3	SMART
ZnF_C2H2	523	545	6.78e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122387
AA Change: E344G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113426
Gene: ENSMUSG00000047473
AA Change: E344G

Domain	Start	End	E-Value	Type
ZnF_C2H2	106	128	5.9e-3	SMART
ZnF_C2H2	134	156	7.78e-3	SMART
ZnF_C2H2	162	184	5.06e-2	SMART
ZnF_C2H2	190	212	1.47e-3	SMART
ZnF_C2H2	218	238	3.72e0	SMART
ZnF_C2H2	246	268	3.24e0	SMART
ZnF_C2H2	274	296	3.89e-3	SMART
ZnF_C2H2	302	324	4.79e-3	SMART
ZnF_C2H2	330	352	1.36e-2	SMART
ZnF_C2H2	358	380	1.36e-2	SMART
ZnF_C2H2	386	408	7.26e-3	SMART
ZnF_C2H2	414	436	2.09e-3	SMART
ZnF_C2H2	442	464	6.78e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126504

Meta Mutation Damage Score

0.1085

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

95% (38/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 9,016,853	V5167A	possibly damaging	Het
Ano5	A	G	7: 51,576,528	Y510C	probably damaging	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Apob	A	T	12: 8,006,327	Q1570L	probably damaging	Het
Apob	A	G	12: 8,011,763	N3415S	possibly damaging	Het
Arsk	T	A	13: 76,066,653	I361F	probably damaging	Het
C9	G	A	15: 6,483,080	E228K	possibly damaging	Het
Celsr2	A	G	3: 108,397,415		probably benign	Het
Cfap53	A	G	18: 74,359,569	I455V	probably benign	Het
Ckap4	A	G	10: 84,528,392	L269P	probably damaging	Het
Dnah7a	T	A	1: 53,447,346	D3352V	probably benign	Het
Dync2h1	A	T	9: 7,041,658	M3335K	probably benign	Het
Fam171a1	A	G	2: 3,220,375		probably benign	Het
Glis3	A	T	19: 28,262,591	C97*	probably null	Het
Gm13101	T	C	4: 143,966,681	T76A	probably benign	Het
Gm14221	C	G	2: 160,568,427		noncoding transcript	Het
Gm8603	A	C	17: 13,516,813		probably null	Het
Gm9767	G	T	10: 26,078,571		probably benign	Het
Kctd16	A	G	18: 40,258,859	T167A	possibly damaging	Het
Kif18b	A	G	11: 102,916,276	F78L	probably damaging	Het
Mefv	A	G	16: 3,708,194		probably null	Het
Mipol1	C	A	12: 57,457,092	L349I	probably damaging	Het
Myo10	T	C	15: 25,803,288	V1527A	probably damaging	Het
Naip5	G	T	13: 100,223,014	Y571*	probably null	Het
Npl	A	G	1: 153,515,464	F182L	probably benign	Het
Pan3	T	A	5: 147,503,208		probably benign	Het
Pcdh15	A	T	10: 74,645,848	T342S	probably benign	Het
Pcdhga1	A	G	18: 37,662,992	T350A	possibly damaging	Het
Prdm4	A	G	10: 85,899,281	S666P	probably damaging	Het
Rere	A	G	4: 150,468,795	E148G	probably damaging	Het
Scube2	T	C	7: 109,808,406		probably benign	Het
Sptbn1	A	G	11: 30,137,335	S1035P	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Supt3	A	G	17: 44,994,387	D108G	probably damaging	Het
Tnfsf13b	A	G	8: 10,031,545	I236V	possibly damaging	Het
Tns1	T	C	1: 73,924,940	S1511G	probably damaging	Het
Tpm1	G	A	9: 67,031,945		probably benign	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Vmn1r117	T	A	7: 20,883,455	I223F	probably damaging	Het
Vmn2r91	G	A	17: 18,085,278		probably null	Het

Other mutations in Zfp30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
elo	UTSW	7	29793066	nonsense	probably null
R0022:Zfp30	UTSW	7	29792435	missense	possibly damaging	0.68
R0218:Zfp30	UTSW	7	29793638	missense	probably damaging	1.00
R0349:Zfp30	UTSW	7	29793604	missense	probably damaging	1.00
R0537:Zfp30	UTSW	7	29792735	missense	probably damaging	0.98
R0653:Zfp30	UTSW	7	29792753	missense	probably damaging	1.00
R1836:Zfp30	UTSW	7	29793380	missense	probably damaging	0.96
R1966:Zfp30	UTSW	7	29792452	missense	probably benign
R2100:Zfp30	UTSW	7	29793526	missense	probably benign	0.30
R3696:Zfp30	UTSW	7	29793390	missense	probably damaging	1.00
R4571:Zfp30	UTSW	7	29793202	missense	probably damaging	1.00
R5027:Zfp30	UTSW	7	29793066	nonsense	probably null
R5070:Zfp30	UTSW	7	29786266	utr 5 prime	probably benign
R6013:Zfp30	UTSW	7	29789421	missense	possibly damaging	0.79
R7274:Zfp30	UTSW	7	29792618	missense	probably benign
R7484:Zfp30	UTSW	7	29792806	missense	probably benign	0.01
R8181:Zfp30	UTSW	7	29793655	missense	probably benign	0.03
R8255:Zfp30	UTSW	7	29789401	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACGACTGCAAGGAGTGTGG -3'
(R):5'- TGCAAGGCAAGGATTCGTAG -3'

Sequencing Primer
(F):5'- AAGGCGTTCCGGGTGAG -3'
(R):5'- GTTGACGGAAGGCCTTCTTACAC -3'

Posted On

2015-03-18