Mutagenetix > Incidental Mutation

Incidental Mutation 'R3703:Zfr2'

334578

Institutional Source

Beutler Lab

Gene Symbol

Zfr2

Ensembl Gene

ENSMUSG00000034949

Gene Name

zinc finger RNA binding protein 2

Synonyms

9130206N08Rik, 2010013I23Rik

MMRRC Submission

040696-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R3703 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

81233155-81252123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 81246079 bp (GRCm38)

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: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,987,581	C2703S	probably damaging	Het
Arhgap10	C	T	8: 77,259,056		probably null	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 136,241,241		probably benign	Het
Bcap29	T	C	12: 31,617,152	H170R	probably benign	Het
Brf1	T	C	12: 112,969,371		probably null	Het
Btnl7-ps	T	A	17: 34,533,967		noncoding transcript	Het
Cdh12	C	A	15: 21,583,826	T584K	probably damaging	Het
Col13a1	A	G	10: 61,867,829		probably null	Het
Col25a1	A	G	3: 130,550,033		probably null	Het
Csrp2	G	A	10: 110,937,874		probably benign	Het
Ctla2a	T	A	13: 60,936,007	D37V	probably damaging	Het
Cubn	T	A	2: 13,350,943	H1826L	probably damaging	Het
Dnajc19	A	G	3: 34,080,229		probably null	Het
Dxo	T	C	17: 34,838,769		probably benign	Het
Edil3	A	T	13: 89,177,298	M269L	probably benign	Het
Fbxl7	C	A	15: 26,543,755	G269C	probably damaging	Het
Gpnmb	T	A	6: 49,051,865	I439N	possibly damaging	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Gtpbp3	T	G	8: 71,492,135	S345A	probably benign	Het
Hnrnpul2	A	G	19: 8,824,409	E327G	probably damaging	Het
Ifi207	A	T	1: 173,727,463	Y884*	probably null	Het
Ifi47	T	C	11: 49,095,525	S40P	probably benign	Het
Kcnq3	A	G	15: 66,021,739		probably null	Het
Kifc3	G	A	8: 95,104,028		probably benign	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Mug1	C	T	6: 121,888,556		probably benign	Het
Myh2	A	G	11: 67,189,601	I1214V	probably benign	Het
Naa30	A	G	14: 49,187,602	N337S	probably benign	Het
Nap1l3	A	T	X: 122,395,524	I499N	possibly damaging	Het
Nfat5	T	A	8: 107,351,421		probably benign	Het
Nisch	A	G	14: 31,176,745		probably benign	Het
Nt5c3	A	G	6: 56,883,667		probably benign	Het
Pklr	C	T	3: 89,142,701	R328C	probably damaging	Het
Prrc2c	G	A	1: 162,710,691	R457C	probably damaging	Het
Rab1a	T	G	11: 20,224,506		probably benign	Het
Rasa3	A	T	8: 13,588,972	D278E	probably benign	Het
Rdh8	C	T	9: 20,823,333	P99S	probably damaging	Het
Snx9	T	A	17: 5,928,200		probably null	Het
Spns3	C	T	11: 72,499,530		probably benign	Het
Sympk	A	G	7: 19,040,561	Y421C	probably damaging	Het
Tas1r2	G	A	4: 139,667,418	C495Y	probably damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Tmprss15	T	C	16: 79,054,142		probably null	Het
Tox3	G	T	8: 90,248,905	T366K	possibly damaging	Het
Trdmt1	T	A	2: 13,521,297	Q170L	probably benign	Het
Ttn	A	T	2: 76,735,408	V28200D	probably damaging	Het
Zfp616	G	A	11: 74,083,319	W138*	probably null	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
R3704:Zfr2	UTSW	10	81246079	missense	probably benign	0.40
R3705:Zfr2	UTSW	10	81246079	missense	probably benign	0.40
R3715: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
R8953:Zfr2	UTSW	10	81248437	missense	probably damaging	0.99
R9086:Zfr2	UTSW	10	81240195	missense	probably damaging	0.96
R9189:Zfr2	UTSW	10	81244662	missense	probably damaging	1.00
R9487:Zfr2	UTSW	10	81240135	missense	probably benign	0.33
R9592:Zfr2	UTSW	10	81233746	missense	unknown
R9645:Zfr2	UTSW	10	81248418	nonsense	probably null
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

2015-09-10