Mutagenetix > Incidental Mutation

Incidental Mutation 'R3715:Zfr2'

259861

Institutional Source

Beutler Lab

Gene Symbol

Zfr2

Ensembl Gene

ENSMUSG00000034949

Gene Name

zinc finger RNA binding protein 2

Synonyms

2010013I23Rik, 9130206N08Rik

MMRRC Submission

040708-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R3715 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

81068989-81087957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 81081913 bp (GRCm39)

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]

AlphaFold

E9Q5M4

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: 88,424,081 (GRCm39)	M137V	probably benign	Het
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Aaas	T	C	15: 102,248,771 (GRCm39)	I236V	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adamtsl1	T	A	4: 86,135,213 (GRCm39)	I246N	probably benign	Het
Ak9	A	G	10: 41,233,508 (GRCm39)	D582G	probably damaging	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,187 (GRCm39)	K360E	probably damaging	Het
Cacna2d3	T	C	14: 29,068,880 (GRCm39)	I282M	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dlat	A	G	9: 50,549,354 (GRCm39)	V510A	probably damaging	Het
Eaf1	T	C	14: 31,224,402 (GRCm39)	I173T	possibly damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Epm2a	A	G	10: 11,219,420 (GRCm39)	Y69C	probably benign	Het
Fam168a	A	G	7: 100,473,432 (GRCm39)	N107S	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Glt8d2	C	A	10: 82,488,571 (GRCm39)	A300S	probably benign	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Lyg1	G	T	1: 37,989,759 (GRCm39)	R43S	probably damaging	Het
Marchf6	A	G	15: 31,465,405 (GRCm39)	L833P	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Med17	G	A	9: 15,175,062 (GRCm39)		probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Or2t26	T	C	11: 49,039,642 (GRCm39)	L186P	probably damaging	Het
Or4c15	A	G	2: 88,759,757 (GRCm39)	W301R	probably benign	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Otof	T	A	5: 30,534,215 (GRCm39)	K1397*	probably null	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Rbfox2	A	G	15: 76,983,451 (GRCm39)	I270T	probably damaging	Het
Rnf217	G	T	10: 31,410,728 (GRCm39)	C322*	probably null	Het
Sbk1	A	G	7: 125,889,183 (GRCm39)	T50A	probably benign	Het
Shmt1	T	C	11: 60,688,402 (GRCm39)	T248A	probably damaging	Het
Smim29	G	A	17: 27,785,043 (GRCm39)		probably benign	Het
Sox30	C	T	11: 45,875,619 (GRCm39)	T457I	probably damaging	Het
Stox2	T	A	8: 47,866,187 (GRCm39)	I52F	possibly damaging	Het
Syncrip	A	T	9: 88,361,738 (GRCm39)		probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,204,405 (GRCm39)	E235G	probably benign	Het
Tmem82	A	T	4: 141,344,945 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,230 (GRCm39)	T476A	probably damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn2r100	A	G	17: 19,752,272 (GRCm39)	R772G	probably damaging	Het
Xkr5	T	C	8: 18,984,474 (GRCm39)	E190G	probably benign	Het
Zfp236	A	G	18: 82,651,095 (GRCm39)		probably benign	Het
Zp2	A	T	7: 119,741,057 (GRCm39)	S156T	possibly damaging	Het
Zswim5	A	G	4: 116,819,755 (GRCm39)	T387A	probably benign	Het

Other mutations in Zfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Zfr2	APN	10	81,077,919 (GRCm39)	missense	probably damaging	0.96
IGL01622:Zfr2	APN	10	81,087,193 (GRCm39)	missense	probably benign
IGL01623:Zfr2	APN	10	81,087,193 (GRCm39)	missense	probably benign
IGL02719:Zfr2	APN	10	81,080,546 (GRCm39)	missense	probably damaging	1.00
IGL03036:Zfr2	APN	10	81,077,985 (GRCm39)	missense	probably benign	0.01
R0302:Zfr2	UTSW	10	81,087,170 (GRCm39)	unclassified	probably benign
R0837:Zfr2	UTSW	10	81,081,242 (GRCm39)	missense	probably damaging	1.00
R1557:Zfr2	UTSW	10	81,083,225 (GRCm39)	missense	probably benign	0.01
R1714:Zfr2	UTSW	10	81,080,583 (GRCm39)	missense	probably damaging	1.00
R1737:Zfr2	UTSW	10	81,077,919 (GRCm39)	missense	probably damaging	0.96
R1991:Zfr2	UTSW	10	81,078,686 (GRCm39)	missense	possibly damaging	0.86
R2134:Zfr2	UTSW	10	81,078,735 (GRCm39)	missense	probably damaging	1.00
R2148:Zfr2	UTSW	10	81,077,950 (GRCm39)	missense	probably benign	0.13
R2150:Zfr2	UTSW	10	81,077,950 (GRCm39)	missense	probably benign	0.13
R3703:Zfr2	UTSW	10	81,081,913 (GRCm39)	missense	probably benign	0.40
R3704:Zfr2	UTSW	10	81,081,913 (GRCm39)	missense	probably benign	0.40
R3705:Zfr2	UTSW	10	81,081,913 (GRCm39)	missense	probably benign	0.40
R4301:Zfr2	UTSW	10	81,078,018 (GRCm39)	unclassified	probably benign
R4654:Zfr2	UTSW	10	81,087,083 (GRCm39)	splice site	probably null
R4811:Zfr2	UTSW	10	81,079,547 (GRCm39)	missense	probably benign	0.07
R5290:Zfr2	UTSW	10	81,082,544 (GRCm39)	frame shift	probably null
R5781:Zfr2	UTSW	10	81,079,547 (GRCm39)	missense	probably benign	0.07
R7114:Zfr2	UTSW	10	81,080,559 (GRCm39)	missense	probably damaging	1.00
R8192:Zfr2	UTSW	10	81,078,649 (GRCm39)	missense	possibly damaging	0.83
R8359:Zfr2	UTSW	10	81,078,653 (GRCm39)	missense	possibly damaging	0.57
R8389:Zfr2	UTSW	10	81,081,323 (GRCm39)	missense	probably benign
R8827:Zfr2	UTSW	10	81,078,619 (GRCm39)	missense	probably benign	0.00
R8953:Zfr2	UTSW	10	81,084,271 (GRCm39)	missense	probably damaging	0.99
R9086:Zfr2	UTSW	10	81,076,029 (GRCm39)	missense	probably damaging	0.96
R9189:Zfr2	UTSW	10	81,080,496 (GRCm39)	missense	probably damaging	1.00
R9487:Zfr2	UTSW	10	81,075,969 (GRCm39)	missense	probably benign	0.33
R9592:Zfr2	UTSW	10	81,069,580 (GRCm39)	missense	unknown
R9645:Zfr2	UTSW	10	81,084,252 (GRCm39)	nonsense	probably null
X0063:Zfr2	UTSW	10	81,078,791 (GRCm39)	critical splice donor site	probably null
Z1177:Zfr2	UTSW	10	81,081,918 (GRCm39)	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