Mutagenetix > Incidental Mutation

Incidental Mutation 'R1557:Zfr2'

256142

Institutional Source

Beutler Lab

Gene Symbol

Zfr2

Ensembl Gene

ENSMUSG00000034949

Gene Name

zinc finger RNA binding protein 2

Synonyms

9130206N08Rik, 2010013I23Rik

MMRRC Submission

039596-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1557 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

81233155-81252123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81247391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 634 (S634P)

Ref Sequence

ENSEMBL: ENSMUSP00000113913 (fasta)

Gene Model

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

AlphaFold

E9Q5M4

Predicted Effect

probably benign
Transcript: ENSMUST00000117798
AA Change: S634P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: S634P

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: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (75/78)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	C	1: 53,181,866	D68E	possibly damaging	Het
Abca3	T	C	17: 24,399,980	V870A	possibly damaging	Het
Aldh3a2	A	T	11: 61,249,059	F416I	probably damaging	Het
Armc6	A	T	8: 70,225,448	L77Q	possibly damaging	Het
Asb17	A	G	3: 153,850,933	I226V	probably benign	Het
Aspm	A	G	1: 139,468,668	I862V	probably benign	Het
Atr	T	A	9: 95,871,449	D701E	probably damaging	Het
Baz1b	C	T	5: 135,218,243	L849F	possibly damaging	Het
Cbr1	T	C	16: 93,608,789	V97A	probably benign	Het
Cep295	G	A	9: 15,332,010	Q1669*	probably null	Het
Cfap54	T	C	10: 92,984,227	T1242A	possibly damaging	Het
Chrm3	T	A	13: 9,878,314	T229S	possibly damaging	Het
Cnga3	A	G	1: 37,260,985	Y300C	probably damaging	Het
Col14a1	A	C	15: 55,388,579	I544L	unknown	Het
Crocc	T	C	4: 141,025,465	E1208G	probably damaging	Het
Cyp2j8	A	T	4: 96,470,476		probably benign	Het
Dcbld2	T	C	16: 58,465,350	I624T	possibly damaging	Het
Ddah1	A	C	3: 145,891,472	I258L	probably benign	Het
Dnah6	G	A	6: 73,049,131	Q3460*	probably null	Het
Dync2h1	T	A	9: 7,140,911	D1372V	probably damaging	Het
Egln1	G	A	8: 124,948,241	R272*	probably null	Het
Elf1	A	G	14: 79,567,180	D95G	possibly damaging	Het
Fkbp5	A	G	17: 28,402,755	F374L	probably damaging	Het
Fli1	T	C	9: 32,461,244		probably benign	Het
Gabbr2	T	C	4: 46,846,436	T158A	probably damaging	Het
Gp2	A	C	7: 119,450,079	Y412D	probably damaging	Het
Hmcn1	A	G	1: 150,734,532	V1462A	possibly damaging	Het
Ide	T	C	19: 37,280,761		probably null	Het
Kalrn	T	C	16: 34,314,278	K372R	possibly damaging	Het
Kcnj16	A	G	11: 111,025,241	D243G	possibly damaging	Het
Kif7	A	G	7: 79,714,157	M1T	probably null	Het
Klri2	A	T	6: 129,732,211	L226Q	probably damaging	Het
Kremen1	T	C	11: 5,215,373		probably null	Het
Lama3	T	C	18: 12,513,731		probably benign	Het
Lmln	C	A	16: 33,088,211	R336S	probably benign	Het
Lrch4	T	A	5: 137,637,556	D266E	probably benign	Het
Lrrc28	C	T	7: 67,559,929	R174H	probably damaging	Het
Mib1	T	A	18: 10,798,474	D778E	probably damaging	Het
Msra	T	C	14: 64,123,326	I125V	possibly damaging	Het
Olfr1180	A	T	2: 88,412,211	V149E	possibly damaging	Het
Olfr1281	T	A	2: 111,328,619	S67T	probably damaging	Het
Olfr670	A	G	7: 104,960,540	F64S	probably damaging	Het
Olfr790	C	A	10: 129,501,622	T246N	probably damaging	Het
Olfr930	A	G	9: 38,930,659	M163V	possibly damaging	Het
Olfr95	A	G	17: 37,211,353	F167L	probably damaging	Het
Pes1	T	A	11: 3,976,824	Y369N	probably damaging	Het
Pgam2	T	C	11: 5,801,773	D221G	possibly damaging	Het
Prl2c5	T	C	13: 13,190,680	V137A	possibly damaging	Het
Rasal1	T	A	5: 120,676,849	D721E	possibly damaging	Het
Sass6	G	T	3: 116,618,732	E385D	possibly damaging	Het
Sema5a	A	G	15: 32,460,272	R60G	probably benign	Het
Sesn1	T	C	10: 41,903,766	S399P	probably damaging	Het
Skiv2l	G	A	17: 34,848,422	L47F	probably damaging	Het
Slc10a2	C	T	8: 5,091,755	V210M	probably damaging	Het
Slc8a3	C	T	12: 81,315,557	G163S	probably damaging	Het
Sorbs2	T	C	8: 45,759,197		probably benign	Het
Speer4f1	T	C	5: 17,479,492	W173R	probably damaging	Het
Spon2	C	A	5: 33,216,764	G92W	probably damaging	Het
Sycp2	A	T	2: 178,395,216		probably benign	Het
Tex33	C	A	15: 78,386,274	R98M	probably damaging	Het
Tfb1m	A	G	17: 3,554,966	V84A	probably damaging	Het
Tmem18	G	T	12: 30,587,199		probably null	Het
Tom1l1	A	G	11: 90,656,384	L290S	possibly damaging	Het
Tube1	T	G	10: 39,145,715		probably null	Het
Ugt2b35	T	A	5: 87,007,297		probably null	Het
Unc93b1	T	A	19: 3,942,403	Y269N	probably benign	Het
Usp16	T	C	16: 87,462,142		probably null	Het
Vmn1r38	A	T	6: 66,776,386	S249T	probably benign	Het
Vmn1r42	T	A	6: 89,844,751	M279L	possibly damaging	Het
Zdhhc23	T	A	16: 43,971,466	T315S	possibly damaging	Het
Zfp472	T	C	17: 32,975,926	F12L	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
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
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'- CCTCTCAAGGATCAGGTTGCTTGTG -3'
(R):5'- GCCAGAACATGCCATTCTCTGTCTC -3'

Sequencing Primer
(F):5'- CATCTGTGTCCCCTGTAGAGG -3'
(R):5'- gtgtgtgccagggccag -3'

Posted On

2014-12-31