Mutagenetix > Incidental Mutation

Incidental Mutation 'R4811:Zfr2'

369444

Institutional Source

Beutler Lab

Gene Symbol

Zfr2

Ensembl Gene

ENSMUSG00000034949

Gene Name

zinc finger RNA binding protein 2

Synonyms

9130206N08Rik, 2010013I23Rik

MMRRC Submission

042430-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4811 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

81233155-81252123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81243713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 362 (V362E)

Ref Sequence

ENSEMBL: ENSMUSP00000113913 (fasta)

Gene Model

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

AlphaFold

E9Q5M4

Predicted Effect

probably benign
Transcript: ENSMUST00000117798
AA Change: V362E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: V362E

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,425,708 (GRCm38)		probably benign	Het
Adam3	C	T	8: 24,711,724 (GRCm38)	G208R	probably benign	Het
Arsg	G	T	11: 109,534,072 (GRCm38)	V290L	probably benign	Het
Cad	A	G	5: 31,074,690 (GRCm38)	T104A	probably benign	Het
Ccdc180	A	G	4: 45,928,020 (GRCm38)	N1185S	probably damaging	Het
Cdh18	A	G	15: 23,226,791 (GRCm38)	T113A	probably benign	Het
Crocc2	G	A	1: 93,205,896 (GRCm38)	A967T	probably damaging	Het
Cyp4f16	A	G	17: 32,545,106 (GRCm38)	T291A	probably benign	Het
Dcc	T	A	18: 71,299,483 (GRCm38)	H1300L	probably benign	Het
Ddx23	T	A	15: 98,647,471 (GRCm38)		probably null	Het
Dnhd1	T	G	7: 105,714,281 (GRCm38)	S4017A	probably damaging	Het
Erbb4	A	T	1: 68,254,544 (GRCm38)	F729L	probably damaging	Het
Ercc6	G	T	14: 32,574,929 (GRCm38)	R1292L	probably benign	Het
Fam186b	C	T	15: 99,280,237 (GRCm38)	V403M	probably benign	Het
Fam227a	T	C	15: 79,615,427 (GRCm38)	N576D	possibly damaging	Het
Fbln1	A	G	15: 85,226,966 (GRCm38)		probably null	Het
Fbxw17	T	C	13: 50,425,633 (GRCm38)	V162A	probably benign	Het
Gas2l1	A	C	11: 5,064,436 (GRCm38)	I8S	probably damaging	Het
Gm7030	A	G	17: 36,127,776 (GRCm38)	L241S	probably damaging	Het
Golgb1	T	C	16: 36,891,419 (GRCm38)	L195P	probably damaging	Het
Gps2	A	T	11: 69,915,928 (GRCm38)	H233L	probably damaging	Het
Guf1	T	G	5: 69,564,509 (GRCm38)		probably null	Het
Il1rap	T	A	16: 26,701,238 (GRCm38)		probably null	Het
Ints14	A	G	9: 64,964,518 (GRCm38)	Y46C	probably damaging	Het
Kalrn	T	G	16: 34,356,969 (GRCm38)	Q293H	probably damaging	Het
Kank2	A	G	9: 21,775,747 (GRCm38)	L593P	probably damaging	Het
Krt19	T	C	11: 100,141,348 (GRCm38)	T297A	possibly damaging	Het
Lcp1	T	C	14: 75,200,408 (GRCm38)	V86A	probably damaging	Het
Lins1	T	A	7: 66,708,150 (GRCm38)	I11K	probably benign	Het
Lrba	T	C	3: 86,776,141 (GRCm38)	F2757L	probably damaging	Het
Lyst	T	C	13: 13,777,100 (GRCm38)	I3762T	probably benign	Het
Lyzl6	A	G	11: 103,635,025 (GRCm38)	S90P	possibly damaging	Het
Mfsd2a	T	A	4: 122,959,382 (GRCm38)	Q38L	probably benign	Het
Mtss1	A	G	15: 58,944,073 (GRCm38)	F546S	probably damaging	Het
Myo5a	G	A	9: 75,141,543 (GRCm38)		probably null	Het
Naip6	C	A	13: 100,285,791 (GRCm38)	G1245W	probably damaging	Het
Ndfip1	C	T	18: 38,451,592 (GRCm38)	T107I	probably benign	Het
Nek8	C	T	11: 78,167,718 (GRCm38)		probably null	Het
Nphs1	T	C	7: 30,460,429 (GRCm38)	V55A	probably damaging	Het
Nrp2	C	A	1: 62,719,081 (GRCm38)	H75Q	probably damaging	Het
Oas1e	C	T	5: 120,795,383 (GRCm38)	S39N	probably damaging	Het
Or13g1	T	C	7: 86,306,958 (GRCm38)	T52A	probably benign	Het
Or2y1e	T	G	11: 49,327,748 (GRCm38)	S112R	possibly damaging	Het
Or5d37	A	G	2: 88,093,532 (GRCm38)	F135L	probably benign	Het
Or7h8	A	T	9: 20,212,753 (GRCm38)	I135F	probably damaging	Het
Pan3	T	A	5: 147,530,058 (GRCm38)	H632Q	probably damaging	Het
Paqr3	A	C	5: 97,095,983 (GRCm38)	S291A	probably benign	Het
Pcdh17	A	C	14: 84,447,935 (GRCm38)	D614A	probably damaging	Het
Pcyox1l	T	C	18: 61,697,535 (GRCm38)	E422G	possibly damaging	Het
Pgr	G	T	9: 8,900,843 (GRCm38)	E126*	probably null	Het
Pik3ap1	A	G	19: 41,302,497 (GRCm38)	V532A	possibly damaging	Het
Pla2g4c	T	C	7: 13,337,813 (GRCm38)	I186T	probably damaging	Het
Pnkd	G	A	1: 74,349,405 (GRCm38)		probably null	Het
Poc1a	A	G	9: 106,349,709 (GRCm38)	T334A	probably damaging	Het
Pou2f2	T	A	7: 25,097,686 (GRCm38)	K211*	probably null	Het
Rdh13	T	C	7: 4,442,653 (GRCm38)	E94G	probably benign	Het
Rnf186	A	G	4: 138,967,187 (GRCm38)	S13G	probably benign	Het
Ryr2	T	C	13: 11,655,698 (GRCm38)	R3471G	probably damaging	Het
Sbf2	T	C	7: 110,372,535 (GRCm38)	T831A	probably damaging	Het
Sh3gl2	A	G	4: 85,398,166 (GRCm38)		probably benign	Het
Shoc1	T	C	4: 59,082,404 (GRCm38)	N408S	probably benign	Het
Snn	T	C	16: 11,072,533 (GRCm38)	V72A	probably benign	Het
Sys1	T	A	2: 164,464,424 (GRCm38)	H99Q	possibly damaging	Het
Syt7	A	G	19: 10,435,567 (GRCm38)	K122R	probably damaging	Het
Tas1r2	T	A	4: 139,669,000 (GRCm38)	L550Q	probably damaging	Het
Tent5b	T	C	4: 133,486,370 (GRCm38)	L184P	probably benign	Het
Thoc1	T	C	18: 9,993,438 (GRCm38)	I599T	probably damaging	Het
Tle3	C	T	9: 61,373,997 (GRCm38)		probably benign	Het
Tll1	A	C	8: 64,085,473 (GRCm38)	V379G	possibly damaging	Het
Tnfrsf21	G	A	17: 43,037,730 (GRCm38)	E78K	probably benign	Het
Tpgs2	A	G	18: 25,129,840 (GRCm38)		probably benign	Het
Trpm1	T	C	7: 64,208,306 (GRCm38)	L165P	probably damaging	Het
Trpm5	T	C	7: 143,080,219 (GRCm38)	Y750C	probably damaging	Het
Ttbk2	A	C	2: 120,740,070 (GRCm38)	S1201A	possibly damaging	Het
Ust	T	A	10: 8,245,941 (GRCm38)	H301L	probably damaging	Het
Vwa5a	T	C	9: 38,735,953 (GRCm38)	F543L	probably benign	Het
Yeats2	T	A	16: 20,152,895 (GRCm38)		probably null	Het
Zfp85	T	C	13: 67,749,626 (GRCm38)	Y109C	probably damaging	Het
Znrf3	A	T	11: 5,287,420 (GRCm38)	C134S	probably benign	Het

Other mutations in Zfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Zfr2	APN	10	81,242,085 (GRCm38)	missense	probably damaging	0.96
IGL01622:Zfr2	APN	10	81,251,359 (GRCm38)	missense	probably benign
IGL01623:Zfr2	APN	10	81,251,359 (GRCm38)	missense	probably benign
IGL02719:Zfr2	APN	10	81,244,712 (GRCm38)	missense	probably damaging	1.00
IGL03036:Zfr2	APN	10	81,242,151 (GRCm38)	missense	probably benign	0.01
R0302:Zfr2	UTSW	10	81,251,336 (GRCm38)	unclassified	probably benign
R0837:Zfr2	UTSW	10	81,245,408 (GRCm38)	missense	probably damaging	1.00
R1557:Zfr2	UTSW	10	81,247,391 (GRCm38)	missense	probably benign	0.01
R1714:Zfr2	UTSW	10	81,244,749 (GRCm38)	missense	probably damaging	1.00
R1737:Zfr2	UTSW	10	81,242,085 (GRCm38)	missense	probably damaging	0.96
R1991:Zfr2	UTSW	10	81,242,852 (GRCm38)	missense	possibly damaging	0.86
R2134:Zfr2	UTSW	10	81,242,901 (GRCm38)	missense	probably damaging	1.00
R2148:Zfr2	UTSW	10	81,242,116 (GRCm38)	missense	probably benign	0.13
R2150:Zfr2	UTSW	10	81,242,116 (GRCm38)	missense	probably benign	0.13
R3703:Zfr2	UTSW	10	81,246,079 (GRCm38)	missense	probably benign	0.40
R3704:Zfr2	UTSW	10	81,246,079 (GRCm38)	missense	probably benign	0.40
R3705:Zfr2	UTSW	10	81,246,079 (GRCm38)	missense	probably benign	0.40
R3715:Zfr2	UTSW	10	81,246,079 (GRCm38)	missense	probably benign	0.40
R4301:Zfr2	UTSW	10	81,242,184 (GRCm38)	unclassified	probably benign
R4654:Zfr2	UTSW	10	81,251,249 (GRCm38)	splice site	probably null
R5290:Zfr2	UTSW	10	81,246,710 (GRCm38)	frame shift	probably null
R5781:Zfr2	UTSW	10	81,243,713 (GRCm38)	missense	probably benign	0.07
R7114:Zfr2	UTSW	10	81,244,725 (GRCm38)	missense	probably damaging	1.00
R8192:Zfr2	UTSW	10	81,242,815 (GRCm38)	missense	possibly damaging	0.83
R8359:Zfr2	UTSW	10	81,242,819 (GRCm38)	missense	possibly damaging	0.57
R8389:Zfr2	UTSW	10	81,245,489 (GRCm38)	missense	probably benign
R8827:Zfr2	UTSW	10	81,242,785 (GRCm38)	missense	probably benign	0.00
R8953:Zfr2	UTSW	10	81,248,437 (GRCm38)	missense	probably damaging	0.99
R9086:Zfr2	UTSW	10	81,240,195 (GRCm38)	missense	probably damaging	0.96
R9189:Zfr2	UTSW	10	81,244,662 (GRCm38)	missense	probably damaging	1.00
R9487:Zfr2	UTSW	10	81,240,135 (GRCm38)	missense	probably benign	0.33
R9592:Zfr2	UTSW	10	81,233,746 (GRCm38)	missense	unknown
R9645:Zfr2	UTSW	10	81,248,418 (GRCm38)	nonsense	probably null
X0063:Zfr2	UTSW	10	81,242,957 (GRCm38)	critical splice donor site	probably null
Z1177:Zfr2	UTSW	10	81,246,084 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GATATCACAGCCTGCCCTTCTG -3'
(R):5'- GACATGAGGATGGGCTACTG -3'

Sequencing Primer
(F):5'- GCAGGATACCATGGTAGTTTCCAC -3'
(R):5'- ATGGGCTACTGTGGCAGCTC -3'

Posted On

2016-02-04