Mutagenetix > Incidental Mutation

Incidental Mutation 'R1579:Zfp609'

171302

Institutional Source

Beutler Lab

Gene Symbol

Zfp609

Ensembl Gene

ENSMUSG00000040524

Gene Name

zinc finger protein 609

Synonyms

MMRRC Submission

039616-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R1579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65599673-65734846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65611754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 403 (A403V)

Ref Sequence

ENSEMBL: ENSMUSP00000124089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159109]

AlphaFold

Q8BZ47

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159109
AA Change: A403V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124089
Gene: ENSMUSG00000040524
AA Change: A403V

Domain	Start	End	E-Value	Type
low complexity region	83	101	N/A	INTRINSIC
low complexity region	125	139	N/A	INTRINSIC
low complexity region	155	176	N/A	INTRINSIC
low complexity region	259	269	N/A	INTRINSIC
low complexity region	365	376	N/A	INTRINSIC
low complexity region	386	405	N/A	INTRINSIC
ZnF_C2H2	495	520	2.14e0	SMART
low complexity region	629	638	N/A	INTRINSIC
low complexity region	657	667	N/A	INTRINSIC
low complexity region	724	738	N/A	INTRINSIC
low complexity region	1000	1020	N/A	INTRINSIC
low complexity region	1210	1219	N/A	INTRINSIC
low complexity region	1257	1273	N/A	INTRINSIC
low complexity region	1329	1348	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159878

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	C	16: 3,724,039 (GRCm39)	R162G	probably benign	Het
Adamtsl4	T	A	3: 95,592,807 (GRCm39)		probably benign	Het
Adgrv1	A	T	13: 81,711,898 (GRCm39)	L306H	probably damaging	Het
Aknad1	T	A	3: 108,659,452 (GRCm39)	Y155*	probably null	Het
Aldh6a1	C	T	12: 84,488,622 (GRCm39)	R88H	possibly damaging	Het
Apc2	G	C	10: 80,147,179 (GRCm39)	K715N	probably damaging	Het
Arhgap45	G	A	10: 79,864,811 (GRCm39)	V798M	probably damaging	Het
Calcrl	T	C	2: 84,163,881 (GRCm39)	T437A	probably benign	Het
Cdan1	A	G	2: 120,561,220 (GRCm39)	F183L	probably damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cntnap4	A	G	8: 113,608,462 (GRCm39)	E1294G	possibly damaging	Het
Crybg3	C	A	16: 59,350,561 (GRCm39)	G2607V	probably damaging	Het
Dhx29	G	T	13: 113,072,132 (GRCm39)		probably null	Het
Dmrtb1	T	A	4: 107,541,322 (GRCm39)	H13L	probably damaging	Het
Echdc2	A	G	4: 108,031,006 (GRCm39)	M162V	probably benign	Het
Entpd8	A	G	2: 24,974,986 (GRCm39)	D439G	possibly damaging	Het
Fastkd2	C	G	1: 63,785,046 (GRCm39)	H477Q	probably null	Het
Fbrs	A	G	7: 127,084,529 (GRCm39)	E517G	probably damaging	Het
Gchfr	A	G	2: 119,002,502 (GRCm39)	T71A	possibly damaging	Het
Hecw1	A	T	13: 14,552,492 (GRCm39)	C35S	probably damaging	Het
Izumo1r	C	T	9: 14,813,098 (GRCm39)	R58H	probably benign	Het
Kif13a	T	C	13: 46,906,332 (GRCm39)	E537G	possibly damaging	Het
Kif13b	G	A	14: 65,019,790 (GRCm39)		probably null	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lnpk	A	T	2: 74,378,340 (GRCm39)	D140E	probably damaging	Het
Ltbp1	A	G	17: 75,559,362 (GRCm39)	M284V	probably benign	Het
Me3	A	T	7: 89,495,050 (GRCm39)	T323S	possibly damaging	Het
Mtus1	A	G	8: 41,535,895 (GRCm39)	V607A	probably damaging	Het
Myh14	A	T	7: 44,305,118 (GRCm39)		probably null	Het
Myo1h	T	A	5: 114,485,496 (GRCm39)	C545*	probably null	Het
Nbn	T	A	4: 15,964,289 (GRCm39)	D121E	probably damaging	Het
Nox4	A	G	7: 87,019,231 (GRCm39)	Y408C	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or10q1b	A	G	19: 13,682,566 (GRCm39)	D125G	probably damaging	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or5w20	G	A	2: 87,727,286 (GRCm39)	A248T	probably benign	Het
Osbpl5	T	C	7: 143,262,939 (GRCm39)	T150A	possibly damaging	Het
Pgap3	C	A	11: 98,280,879 (GRCm39)	M265I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkd2l2	A	T	18: 34,560,446 (GRCm39)	N351I	possibly damaging	Het
Prkdc	T	A	16: 15,493,192 (GRCm39)	Y700N	probably benign	Het
Pzp	A	G	6: 128,500,931 (GRCm39)		probably null	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rptor	A	T	11: 119,786,827 (GRCm39)	Q1264L	probably benign	Het
Scnn1a	T	C	6: 125,299,103 (GRCm39)	F61S	probably damaging	Het
Tenm2	C	A	11: 35,997,610 (GRCm39)	W825C	probably damaging	Het
Tex264	A	T	9: 106,559,116 (GRCm39)	I70N	possibly damaging	Het
Tns2	G	T	15: 102,019,645 (GRCm39)	D504Y	probably damaging	Het
Trappc14	T	C	5: 138,260,128 (GRCm39)	I338V	probably benign	Het
Trpc2	T	A	7: 101,733,447 (GRCm39)	F132Y	probably damaging	Het
Trpm4	A	G	7: 44,958,021 (GRCm39)	F816S	probably damaging	Het
Uqcc1	G	A	2: 155,763,641 (GRCm39)	Q5*	probably null	Het
Usp36	G	T	11: 118,175,771 (GRCm39)	T130N	probably damaging	Het
Vav1	A	G	17: 57,604,252 (GRCm39)	M165V	probably benign	Het
Vmn1r64	A	T	7: 5,886,803 (GRCm39)	F247I	probably damaging	Het
Vmn2r26	G	C	6: 124,016,706 (GRCm39)	R390P	probably benign	Het
Vmn2r57	G	T	7: 41,049,548 (GRCm39)	H734N	probably benign	Het
Wfdc16	G	T	2: 164,477,843 (GRCm39)	H69N	possibly damaging	Het
Zfp316	C	T	5: 143,239,317 (GRCm39)	E901K	probably damaging	Het
Zfp334	T	C	2: 165,223,719 (GRCm39)	E108G	probably damaging	Het
Zfp407	T	C	18: 84,227,763 (GRCm39)	S1949G	probably benign	Het
Zfp408	A	G	2: 91,476,473 (GRCm39)	L227P	probably benign	Het
Zfp560	T	C	9: 20,259,287 (GRCm39)	H525R	possibly damaging	Het

Other mutations in Zfp609

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00956:Zfp609	APN	9	65,610,045 (GRCm39)	missense	probably benign	0.18
IGL01688:Zfp609	APN	9	65,611,307 (GRCm39)	missense	probably benign
IGL01718:Zfp609	APN	9	65,609,682 (GRCm39)	nonsense	probably null
IGL01860:Zfp609	APN	9	65,610,116 (GRCm39)	missense	possibly damaging	0.82
IGL02441:Zfp609	APN	9	65,610,611 (GRCm39)	missense	possibly damaging	0.92
IGL02490:Zfp609	APN	9	65,611,250 (GRCm39)	missense	possibly damaging	0.92
IGL02614:Zfp609	APN	9	65,610,072 (GRCm39)	missense	probably damaging	0.96
IGL02794:Zfp609	APN	9	65,611,602 (GRCm39)	missense	possibly damaging	0.83
IGL02959:Zfp609	APN	9	65,610,675 (GRCm39)	missense	probably benign
IGL02967:Zfp609	APN	9	65,604,901 (GRCm39)	missense	possibly damaging	0.83
IGL03036:Zfp609	APN	9	65,609,927 (GRCm39)	missense	possibly damaging	0.89
IGL03182:Zfp609	APN	9	65,608,287 (GRCm39)	missense	probably benign	0.02
H8441:Zfp609	UTSW	9	65,702,169 (GRCm39)	missense	possibly damaging	0.82
R0304:Zfp609	UTSW	9	65,608,470 (GRCm39)	missense	possibly damaging	0.89
R0487:Zfp609	UTSW	9	65,609,916 (GRCm39)	missense	unknown
R0505:Zfp609	UTSW	9	65,610,744 (GRCm39)	missense	possibly damaging	0.92
R0684:Zfp609	UTSW	9	65,638,483 (GRCm39)	missense	probably benign	0.01
R1480:Zfp609	UTSW	9	65,610,593 (GRCm39)	missense	possibly damaging	0.82
R1507:Zfp609	UTSW	9	65,702,059 (GRCm39)	missense	possibly damaging	0.92
R1655:Zfp609	UTSW	9	65,610,836 (GRCm39)	missense	possibly damaging	0.46
R1692:Zfp609	UTSW	9	65,702,593 (GRCm39)	missense	probably damaging	0.98
R1701:Zfp609	UTSW	9	65,638,282 (GRCm39)	missense	probably benign	0.05
R1735:Zfp609	UTSW	9	65,610,374 (GRCm39)	nonsense	probably null
R1883:Zfp609	UTSW	9	65,702,040 (GRCm39)	missense	probably benign
R1970:Zfp609	UTSW	9	65,702,559 (GRCm39)	missense	probably damaging	0.96
R2059:Zfp609	UTSW	9	65,611,716 (GRCm39)	missense	possibly damaging	0.83
R2302:Zfp609	UTSW	9	65,702,179 (GRCm39)	missense	possibly damaging	0.66
R3404:Zfp609	UTSW	9	65,608,454 (GRCm39)	missense	possibly damaging	0.68
R3405:Zfp609	UTSW	9	65,608,454 (GRCm39)	missense	possibly damaging	0.68
R4514:Zfp609	UTSW	9	65,610,977 (GRCm39)	missense	possibly damaging	0.46
R4533:Zfp609	UTSW	9	65,610,890 (GRCm39)	missense	probably benign	0.00
R5043:Zfp609	UTSW	9	65,608,109 (GRCm39)	missense	probably damaging	0.97
R5499:Zfp609	UTSW	9	65,610,137 (GRCm39)	missense	probably benign	0.00
R7081:Zfp609	UTSW	9	65,609,723 (GRCm39)	missense	possibly damaging	0.46
R7514:Zfp609	UTSW	9	65,613,418 (GRCm39)	missense	probably benign	0.05
R7677:Zfp609	UTSW	9	65,604,456 (GRCm39)	missense	possibly damaging	0.61
R7684:Zfp609	UTSW	9	65,638,362 (GRCm39)	missense	possibly damaging	0.66
R8229:Zfp609	UTSW	9	65,610,782 (GRCm39)	missense	possibly damaging	0.66
R8266:Zfp609	UTSW	9	65,610,996 (GRCm39)	missense	possibly damaging	0.66
R8278:Zfp609	UTSW	9	65,604,804 (GRCm39)	missense	possibly damaging	0.90
R8934:Zfp609	UTSW	9	65,610,561 (GRCm39)	missense	possibly damaging	0.90
R8938:Zfp609	UTSW	9	65,610,561 (GRCm39)	missense	possibly damaging	0.90
R8940:Zfp609	UTSW	9	65,610,561 (GRCm39)	missense	possibly damaging	0.90
R8986:Zfp609	UTSW	9	65,610,561 (GRCm39)	missense	possibly damaging	0.90
R9267:Zfp609	UTSW	9	65,608,328 (GRCm39)	missense	possibly damaging	0.90
R9456:Zfp609	UTSW	9	65,611,125 (GRCm39)	missense
R9561:Zfp609	UTSW	9	65,604,512 (GRCm39)	nonsense	probably null
X0028:Zfp609	UTSW	9	65,604,362 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CACAAGAGTGGGTTCTACCTTGGTC -3'
(R):5'- CAGTTCCCGTGCAGGTTCCTAAAG -3'

Sequencing Primer
(F):5'- TTGTACGGACACGCTTGC -3'
(R):5'- tcaggaggcagaggcag -3'

Posted On

2014-04-13