Mutagenetix > Incidental Mutations

Incidental Mutation 'R3808:Zfp607a'

473945

Institutional Source

Beutler Lab

Gene Symbol

Zfp607a

Ensembl Gene

ENSMUSG00000020420

Gene Name

zinc finger protein 607A

Synonyms

Zfp607, 4732475C15Rik

MMRRC Submission

040765-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R3808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27857527-27880825 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27879401 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 632 (R632H)

Ref Sequence

ENSEMBL: ENSMUSP00000146006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053722] [ENSMUST00000205534] [ENSMUST00000205715]

Predicted Effect

probably benign
Transcript: ENSMUST00000053722
AA Change: R632H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000051496
Gene: ENSMUSG00000020420
AA Change: R632H

Domain	Start	End	E-Value	Type
KRAB	14	75	8.48e-36	SMART
ZnF_C2H2	173	195	2.91e-2	SMART
ZnF_C2H2	201	223	3.44e-4	SMART
ZnF_C2H2	229	251	3.83e-2	SMART
ZnF_C2H2	257	279	4.87e-4	SMART
ZnF_C2H2	285	307	1.38e-3	SMART
ZnF_C2H2	313	335	4.17e-3	SMART
ZnF_C2H2	341	363	2.86e-1	SMART
ZnF_C2H2	369	391	5.14e-3	SMART
ZnF_C2H2	397	419	1.2e-3	SMART
ZnF_C2H2	425	447	4.47e-3	SMART
ZnF_C2H2	453	475	1.1e-2	SMART
ZnF_C2H2	481	503	1.45e-2	SMART
ZnF_C2H2	509	531	1.12e-3	SMART
ZnF_C2H2	537	559	1.5e-4	SMART
ZnF_C2H2	565	587	8.34e-3	SMART
ZnF_C2H2	593	615	1.12e-3	SMART
ZnF_C2H2	621	643	6.42e-4	SMART
ZnF_C2H2	649	671	6.23e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205534
AA Change: R632H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000205715
AA Change: R632H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206136

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Aldh3a2	G	T	11: 61,258,797	L248M	probably damaging	Het
Als2	A	G	1: 59,170,450	S1458P	probably benign	Het
Arhgap5	A	G	12: 52,567,187	E192G	possibly damaging	Het
Atg2a	A	G	19: 6,252,816	K1019R	possibly damaging	Het
Atp2b1	A	G	10: 99,003,148	K613E	possibly damaging	Het
Carm1	T	C	9: 21,586,962	C421R	probably damaging	Het
Cdh17	A	T	4: 11,795,671	Y417F	probably damaging	Het
Cers1	A	G	8: 70,330,010	D10G	possibly damaging	Het
Clptm1l	A	C	13: 73,612,454	M319L	probably benign	Het
Cntnap3	A	G	13: 64,781,804	V527A	probably damaging	Het
Creb3l2	A	G	6: 37,355,690	S290P	probably damaging	Het
D3Ertd254e	T	G	3: 36,165,643		probably null	Het
Dock4	T	G	12: 40,672,810	V305G	probably damaging	Het
Dtl	A	C	1: 191,548,354	L356R	probably damaging	Het
Eftud2	A	T	11: 102,841,463		probably null	Het
Eif2b4	A	G	5: 31,191,168	S88P	possibly damaging	Het
Fat4	T	G	3: 38,982,438	V3413G	possibly damaging	Het
Fgfr2	T	C	7: 130,199,848	M218V	probably benign	Het
Grin2b	A	G	6: 135,923,271	L204P	probably damaging	Het
Kcnj12	A	G	11: 61,070,277	N467S	probably benign	Het
Klhdc3	T	A	17: 46,677,932	N111Y	possibly damaging	Het
Lin9	A	G	1: 180,659,111	I81V	probably null	Het
Lrp2	T	C	2: 69,501,548	D1621G	probably damaging	Het
Lrp4	T	A	2: 91,476,702	D389E	probably damaging	Het
Med15	C	T	16: 17,655,734		probably benign	Het
Nbea	T	C	3: 55,717,848	N2274S	probably benign	Het
Nr3c2	G	A	8: 76,908,714	G148D	probably damaging	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr127	T	C	17: 37,903,573	V9A	probably benign	Het
Olfr982	A	T	9: 40,074,309	M5L	probably benign	Het
Paxip1	A	G	5: 27,772,029		probably benign	Het
Pfas	T	C	11: 68,989,953		probably benign	Het
Plin3	C	A	17: 56,286,275	A96S	probably damaging	Het
Pnck	T	A	X: 73,656,944	I288F	probably damaging	Het
Ppp4c	C	T	7: 126,787,327	G166D	probably damaging	Het
Prss43	A	T	9: 110,827,772	R115S	probably damaging	Het
Rassf2	T	C	2: 131,998,260		probably null	Het
Rdh16f1	T	A	10: 127,788,699	D135E	probably benign	Het
Rdh16f1	G	A	10: 127,788,700	V136M	probably damaging	Het
Rgs12	A	G	5: 35,032,354	E702G	probably damaging	Het
Rnf213	A	G	11: 119,479,558	K4728E	probably damaging	Het
Ros1	T	G	10: 52,120,848	T1243P	probably benign	Het
Sall1	G	A	8: 89,031,473	Q668*	probably null	Het
Sbf2	C	A	7: 110,489,280	*45L	probably null	Het
Serpina3j	A	T	12: 104,319,827	I414F	probably benign	Het
Sh2d3c	T	C	2: 32,746,096	Y159H	probably damaging	Het
Slamf1	A	G	1: 171,798,177	D307G	probably null	Het
Slc22a13	T	C	9: 119,196,077	T178A	probably benign	Het
Smchd1	A	T	17: 71,429,541	L588H	probably damaging	Het
Svs1	C	T	6: 48,987,994	P312L	possibly damaging	Het
Trim12a	G	A	7: 104,306,994	A113V	probably benign	Het
Vil1	T	C	1: 74,427,613	V654A	probably benign	Het
Vmn1r202	T	C	13: 22,501,900	T116A	possibly damaging	Het

Other mutations in Zfp607a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Zfp607a	APN	7	27877789	missense	possibly damaging	0.55
IGL01019:Zfp607a	APN	7	27878617	missense	probably damaging	1.00
IGL01412:Zfp607a	APN	7	27878684	missense	probably damaging	0.99
IGL03206:Zfp607a	APN	7	27877823	missense	possibly damaging	0.52
R0071:Zfp607a	UTSW	7	27878269	missense	probably damaging	0.96
R0304:Zfp607a	UTSW	7	27879212	missense	possibly damaging	0.92
R0685:Zfp607a	UTSW	7	27878476	missense	probably damaging	0.97
R0726:Zfp607a	UTSW	7	27879149	missense	probably benign	0.00
R1201:Zfp607a	UTSW	7	27879311	missense	probably damaging	1.00
R1304:Zfp607a	UTSW	7	27865575	missense	probably benign	0.00
R1648:Zfp607a	UTSW	7	27879068	missense	probably benign	0.02
R1732:Zfp607a	UTSW	7	27878459	missense	probably damaging	1.00
R2194:Zfp607a	UTSW	7	27879380	missense	possibly damaging	0.73
R3793:Zfp607a	UTSW	7	27878906	missense	probably benign	0.01
R4296:Zfp607a	UTSW	7	27865648	missense	probably damaging	1.00
R4786:Zfp607a	UTSW	7	27879413	missense	probably damaging	1.00
R4792:Zfp607a	UTSW	7	27878653	missense	probably benign	0.23
R4915:Zfp607a	UTSW	7	27878560	missense	probably benign	0.00
R4950:Zfp607a	UTSW	7	27878751	missense	probably damaging	1.00
R5123:Zfp607a	UTSW	7	27879098	missense	probably damaging	1.00
R5217:Zfp607a	UTSW	7	27877844	missense	probably damaging	0.97
R5270:Zfp607a	UTSW	7	27878305	nonsense	probably null
R5403:Zfp607a	UTSW	7	27879319	missense	possibly damaging	0.54
R6010:Zfp607a	UTSW	7	27877829	nonsense	probably null
R6224:Zfp607a	UTSW	7	27878582	missense	probably damaging	1.00
R6939:Zfp607a	UTSW	7	27879048	nonsense	probably null
R6953:Zfp607a	UTSW	7	27878365	missense	possibly damaging	0.59
R7082:Zfp607a	UTSW	7	27878758	missense	probably damaging	1.00
R7781:Zfp607a	UTSW	7	27865575	missense	possibly damaging	0.90
R7909:Zfp607a	UTSW	7	27879094	missense	probably damaging	1.00
R8191:Zfp607a	UTSW	7	27879443	missense	possibly damaging	0.93
R8224:Zfp607a	UTSW	7	27878111	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14