Mutagenetix > Incidental Mutation

Incidental Mutation 'R9086:Zfr2'

690609

Institutional Source

Beutler Lab

Gene Symbol

Zfr2

Ensembl Gene

ENSMUSG00000034949

Gene Name

zinc finger RNA binding protein 2

Synonyms

9130206N08Rik, 2010013I23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R9086 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81233155-81252123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81240195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 212 (V212A)

Ref Sequence

ENSEMBL: ENSMUSP00000113913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117798] [ENSMUST00000144087]

AlphaFold

E9Q5M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000117798
AA Change: V212A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: V212A

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

probably benign
Transcript: ENSMUST00000144087

SMART Domains

Protein: ENSMUSP00000115001
Gene: ENSMUSG00000034949

Domain	Start	End	E-Value	Type
low complexity region	33	51	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	C	T	10: 82,288,743	S2811N	probably benign	Het
Abca9	T	C	11: 110,102,053	E1595G	probably damaging	Het
Ank1	T	C	8: 23,099,620	V608A	probably damaging	Het
Arl14epl	T	C	18: 46,932,594	V142A	possibly damaging	Het
Atp8a1	T	C	5: 67,774,816	D210G		Het
Baz1b	T	C	5: 135,231,684	F1112L	probably damaging	Het
Cage1	T	A	13: 38,022,922	I316F	probably damaging	Het
Car2	A	C	3: 14,887,908	T37P	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Cntnap3	T	A	13: 64,781,759	D542V	probably damaging	Het
Coro1b	T	C	19: 4,152,526	Y338H	probably damaging	Het
Ctdspl2	G	A	2: 122,007,817		probably null	Het
Cyp2a12	T	C	7: 27,036,519	F451S	probably damaging	Het
Dpm2	T	C	2: 32,572,379	L59P	probably damaging	Het
Duoxa2	A	G	2: 122,301,340	Y170C	probably damaging	Het
Dus2	T	A	8: 106,015,941	Y34*	probably null	Het
Dzip3	A	G	16: 48,961,130	I266T	possibly damaging	Het
Ebf3	T	C	7: 137,199,265	T455A	possibly damaging	Het
Echdc2	C	T	4: 108,169,879	Q74*	probably null	Het
Efhc1	T	C	1: 20,955,368	Y33H	probably damaging	Het
Fam20a	A	T	11: 109,675,928	C378*	probably null	Het
Fbxo25	C	A	8: 13,939,621	P356Q	probably damaging	Het
Fig4	G	T	10: 41,285,403	T59K	possibly damaging	Het
Gbp10	T	A	5: 105,218,503	M512L	probably benign	Het
Gdf10	T	A	14: 33,932,264	Y243N	probably damaging	Het
Golga5	T	A	12: 102,492,217	S640T	probably benign	Het
Hils1	A	T	11: 94,968,257	K126M	possibly damaging	Het
Ints1	A	T	5: 139,758,192	H1540Q	probably benign	Het
Lipo3	A	T	19: 33,557,129	L310Q	probably benign	Het
Lrrk2	A	G	15: 91,755,848	K1532R	probably benign	Het
Ltc4s	T	C	11: 50,237,247	Y59C	probably damaging	Het
Macf1	T	A	4: 123,484,151	H1427L	probably damaging	Het
Mroh2b	A	G	15: 4,953,272		probably null	Het
Mthfd1l	A	T	10: 3,973,412	D53V	probably benign	Het
Muc4	C	A	16: 32,757,468	P303Q		Het
Nrxn1	A	G	17: 90,162,364	F1293S	probably damaging	Het
Nrxn2	G	A	19: 6,490,078	E803K	probably damaging	Het
Nup155	A	G	15: 8,148,346	D1071G	possibly damaging	Het
Olfr319	T	A	11: 58,702,129	S143T	possibly damaging	Het
Olfr364-ps1	T	A	2: 37,146,414	D67E	probably damaging	Het
Olfr700	A	T	7: 106,805,919	I181N	probably benign	Het
Papln	A	G	12: 83,774,859	E287G	probably damaging	Het
Pex13	C	A	11: 23,665,760	G29C	probably damaging	Het
Phrf1	C	A	7: 141,259,499	T869K	unknown	Het
Pitrm1	A	G	13: 6,577,481	T912A	probably benign	Het
Pla2g4c	A	G	7: 13,337,767	K171E	probably benign	Het
Pnpla7	A	T	2: 25,039,697	T833S	probably damaging	Het
Por	G	T	5: 135,716,064		probably null	Het
Rab3ip	G	A	10: 116,939,405	S16L	probably damaging	Het
Rabgef1	A	T	5: 130,211,951	I304F	probably benign	Het
Rbbp8	T	C	18: 11,742,679	V883A	possibly damaging	Het
Rnase4	A	G	14: 51,104,972	D51G	possibly damaging	Het
Rnf13	A	C	3: 57,833,576	D291A	probably benign	Het
Rps6kb2	A	T	19: 4,159,271	I191N	probably damaging	Het
Scn1a	A	G	2: 66,351,014	L55S	probably benign	Het
Son	T	A	16: 91,670,530	F2260I	unknown	Het
Ssr1	A	G	13: 37,983,473	I238T	probably benign	Het
Stk11ip	A	G	1: 75,530,174	E633G	possibly damaging	Het
Svs3a	A	G	2: 164,290,142	Y211C	probably benign	Het
Sytl1	T	A	4: 133,260,864	E60D	possibly damaging	Het
Tlr1	T	C	5: 64,925,855	I460V	probably damaging	Het
Tmem136	C	T	9: 43,111,369	R230Q	probably benign	Het
Tmem64	T	C	4: 15,266,718	I256T	probably damaging	Het
Ttll5	G	A	12: 85,917,742	A553T	possibly damaging	Het
Ttll5	A	T	12: 86,024,333	T1327S	probably benign	Het
Upp2	T	A	2: 58,790,165	C334*	probably null	Het
Wdr74	C	A	19: 8,735,994	N24K	possibly damaging	Het
Zbtb42	G	A	12: 112,679,414	V8I	probably benign	Het
Zfp541	T	A	7: 16,090,404	L1078Q	probably damaging	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
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
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'- TTCTCCCTCCTAGGACCAAG -3'
(R):5'- CATGGGCCTGGGAAACAAAC -3'

Sequencing Primer
(F):5'- CCTGACTCGGACTCAGTGTC -3'
(R):5'- AAACCAGGGTCCCGTAGC -3'

Posted On

2021-12-30