Mutagenetix > Incidental Mutations

Incidental Mutation 'R3715:Zfr2'

259861

Institutional Source

Beutler Lab

Gene Symbol

Zfr2

Ensembl Gene

ENSMUSG00000034949

Gene Name

zinc finger RNA binding protein 2

Synonyms

9130206N08Rik, 2010013I23Rik

MMRRC Submission

040708-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3715 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

81233155-81252123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 81246079 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 493 (V493G)

Ref Sequence

ENSEMBL: ENSMUSP00000113913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117798]

Predicted Effect

probably benign
Transcript: ENSMUST00000117798
AA Change: V493G

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: V493G

Domain	Start	End	E-Value	Type
low complexity region	16	23	N/A	INTRINSIC
low complexity region	44	62	N/A	INTRINSIC
low complexity region	123	163	N/A	INTRINSIC
ZnF_U1	202	236	3.58e-5	SMART
ZnF_C2H2	205	229	7.68e0	SMART
ZnF_U1	249	283	3.78e-4	SMART
ZnF_C2H2	252	276	4.12e0	SMART
ZnF_U1	397	431	3.78e-4	SMART
ZnF_C2H2	400	424	1.99e0	SMART
low complexity region	484	508	N/A	INTRINSIC
DZF	585	837	2.06e-129	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132174

Predicted Effect

probably benign
Transcript: ENSMUST00000137999

SMART Domains

Protein: ENSMUSP00000120853
Gene: ENSMUSG00000034949

Domain	Start	End	E-Value	Type
Pfam:DZF	2	162	1.3e-32	PFAM
low complexity region	166	178	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148029

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,627,193	M137V	probably benign	Het
9930111J21Rik1	T	C	11: 48,947,976	T595A	possibly damaging	Het
Aaas	T	C	15: 102,340,336	I236V	probably benign	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adamtsl1	T	A	4: 86,216,976	I246N	probably benign	Het
AI413582	G	A	17: 27,566,069		probably benign	Het
Ak9	A	G	10: 41,357,512	D582G	probably damaging	Het
Aqr	A	G	2: 114,118,669		probably benign	Het
Arntl2	A	G	6: 146,822,689	K360E	probably damaging	Het
Cacna2d3	T	C	14: 29,346,923	I282M	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Dexi	A	T	16: 10,542,689	M1K	probably null	Het
Dlat	A	G	9: 50,638,054	V510A	probably damaging	Het
Eaf1	T	C	14: 31,502,445	I173T	possibly damaging	Het
Elavl3	G	T	9: 22,018,599	D336E	probably benign	Het
Epm2a	A	G	10: 11,343,676	Y69C	probably benign	Het
Fam168a	A	G	7: 100,824,225	N107S	probably damaging	Het
Fam43b	G	C	4: 138,395,098	R304G	probably benign	Het
Fras1	T	C	5: 96,645,970		probably null	Het
Fscn3	C	T	6: 28,428,092	T26I	possibly damaging	Het
Glt8d2	C	A	10: 82,652,737	A300S	probably benign	Het
Hcn4	G	A	9: 58,844,036	R315H	unknown	Het
Lipk	A	G	19: 34,040,429	N289S	probably damaging	Het
Lyg1	G	T	1: 37,950,678	R43S	probably damaging	Het
March6	A	G	15: 31,465,259	L833P	probably benign	Het
Mc4r	T	A	18: 66,859,821	N74Y	probably damaging	Het
Med17	G	A	9: 15,263,766		probably benign	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Ndst4	A	T	3: 125,561,505	H354L	possibly damaging	Het
Olfr1184	C	A	2: 88,487,443	T237N	probably damaging	Het
Olfr1211	A	G	2: 88,929,413	W301R	probably benign	Het
Olfr1395	T	C	11: 49,148,815	L186P	probably damaging	Het
Otof	T	A	5: 30,376,871	K1397*	probably null	Het
Rangap1	C	A	15: 81,710,460	E389D	probably benign	Het
Rbfox2	A	G	15: 77,099,251	I270T	probably damaging	Het
Rnf217	G	T	10: 31,534,732	C322*	probably null	Het
Sbk1	A	G	7: 126,290,011	T50A	probably benign	Het
Shmt1	T	C	11: 60,797,576	T248A	probably damaging	Het
Sox30	C	T	11: 45,984,792	T457I	probably damaging	Het
Stox2	T	A	8: 47,413,152	I52F	possibly damaging	Het
Syncrip	A	T	9: 88,479,685		probably benign	Het
Tarsl2	G	A	7: 65,688,952		probably null	Het
Tdrd12	T	C	7: 35,504,980	E235G	probably benign	Het
Tmem82	A	T	4: 141,617,634		probably null	Het
Tro	T	C	X: 150,654,234	T476A	probably damaging	Het
Ttn	G	A	2: 76,731,019	P27302S	probably damaging	Het
Ttn	C	T	2: 76,741,266	V26428I	probably damaging	Het
Usp53	T	C	3: 122,949,319	E656G	probably benign	Het
Vmn2r100	A	G	17: 19,532,010	R772G	probably damaging	Het
Xkr5	T	C	8: 18,934,458	E190G	probably benign	Het
Zfp236	A	G	18: 82,632,970		probably benign	Het
Zp2	A	T	7: 120,141,834	S156T	possibly damaging	Het
Zswim5	A	G	4: 116,962,558	T387A	probably benign	Het

Other mutations in Zfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Zfr2	APN	10	81242085	missense	probably damaging	0.96
IGL01622:Zfr2	APN	10	81251359	missense	probably benign
IGL01623:Zfr2	APN	10	81251359	missense	probably benign
IGL02719:Zfr2	APN	10	81244712	missense	probably damaging	1.00
IGL03036:Zfr2	APN	10	81242151	missense	probably benign	0.01
R0302:Zfr2	UTSW	10	81251336	unclassified	probably benign
R0837:Zfr2	UTSW	10	81245408	missense	probably damaging	1.00
R1557:Zfr2	UTSW	10	81247391	missense	probably benign	0.01
R1714:Zfr2	UTSW	10	81244749	missense	probably damaging	1.00
R1737:Zfr2	UTSW	10	81242085	missense	probably damaging	0.96
R1991:Zfr2	UTSW	10	81242852	missense	possibly damaging	0.86
R2134:Zfr2	UTSW	10	81242901	missense	probably damaging	1.00
R2148:Zfr2	UTSW	10	81242116	missense	probably benign	0.13
R2150:Zfr2	UTSW	10	81242116	missense	probably benign	0.13
R3703:Zfr2	UTSW	10	81246079	missense	probably benign	0.40
R3704:Zfr2	UTSW	10	81246079	missense	probably benign	0.40
R3705:Zfr2	UTSW	10	81246079	missense	probably benign	0.40
R4301:Zfr2	UTSW	10	81242184	unclassified	probably benign
R4654:Zfr2	UTSW	10	81251249	splice site	probably null
R4811:Zfr2	UTSW	10	81243713	missense	probably benign	0.07
R5290:Zfr2	UTSW	10	81246710	frame shift	probably null
R5781:Zfr2	UTSW	10	81243713	missense	probably benign	0.07
R7114:Zfr2	UTSW	10	81244725	missense	probably damaging	1.00
R8192:Zfr2	UTSW	10	81242815	missense	possibly damaging	0.83
R8359:Zfr2	UTSW	10	81242819	missense	possibly damaging	0.57
R8389:Zfr2	UTSW	10	81245489	missense	probably benign
R8827:Zfr2	UTSW	10	81242785	missense	probably benign	0.00
X0063:Zfr2	UTSW	10	81242957	critical splice donor site	probably null
Z1177:Zfr2	UTSW	10	81246084	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTCTGATGCCCCATGATC -3'
(R):5'- ACAGACATGCTATGCTGGACC -3'

Sequencing Primer
(F):5'- GATGCCCCATGATCCCTGAC -3'
(R):5'- ATGCTATGCTGGACCCACAG -3'

Posted On

2015-01-23