Mutagenetix > Incidental Mutation

Incidental Mutation 'R8389:Zfr2'

647290

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

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8389 (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 A at 81245489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 458 (W458R)

Ref Sequence

ENSEMBL: ENSMUSP00000113913 (fasta)

Gene Model

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

AlphaFold

E9Q5M4

Predicted Effect

probably benign
Transcript: ENSMUST00000117798
AA Change: W458R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: W458R

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: 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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	C	T	1: 66,854,747	G83E	probably damaging	Het
Adamtsl2	A	G	2: 27,103,124	D722G	possibly damaging	Het
Akap11	A	T	14: 78,518,882	D25E		Het
Akr1c21	C	T	13: 4,576,279	R101W	probably damaging	Het
Ano2	T	C	6: 125,980,169	Y634H	probably damaging	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
C87414	A	T	5: 93,637,728	F231Y	probably benign	Het
Cfap221	T	C	1: 119,923,571	E820G	probably damaging	Het
Chad	A	G	11: 94,567,892	D289G	probably benign	Het
Col4a2	C	A	8: 11,448,132	A1647E	probably damaging	Het
Dhx32	G	T	7: 133,725,206	T522K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Eloa	A	G	4: 136,006,311	V707A	probably benign	Het
Fam219a	A	G	4: 41,520,935	S109P	probably damaging	Het
Ftl1	A	T	7: 45,459,227	F36I	probably benign	Het
Furin	C	T	7: 80,390,879	R737Q	probably benign	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gpt	C	T	15: 76,699,042	T393M	probably damaging	Het
Greb1l	A	T	18: 10,529,613	D865V	probably benign	Het
Ifi207	GTT	GT	1: 173,729,450		probably null	Het
Klk1b11	G	A	7: 43,999,696	C219Y	probably damaging	Het
Lcn11	A	T	2: 25,779,031	D117V	probably damaging	Het
Lrpprc	A	T	17: 84,773,314	V161D	possibly damaging	Het
Lrrk2	T	C	15: 91,699,991	L318S	probably damaging	Het
Muc5b	A	G	7: 141,861,779	T2821A	possibly damaging	Het
Mysm1	A	G	4: 94,965,612	M250T	probably benign	Het
Nol12	A	G	15: 78,935,068	K27E	probably damaging	Het
Olfr1186	G	A	2: 88,525,587	M1I	probably null	Het
Olfr951	A	G	9: 39,394,616	K272R	probably damaging	Het
Omg	T	A	11: 79,502,175	M286L	probably benign	Het
Pdyn	A	G	2: 129,688,437	L104P	probably benign	Het
Pira2	A	C	7: 3,843,889	L218R	probably damaging	Het
Pnpt1	A	T	11: 29,130,758	M1L	unknown	Het
Pofut2	C	T	10: 77,265,951	T274M	probably benign	Het
Rbm12b1	C	A	4: 12,146,363	D778E	probably damaging	Het
Srsf12	C	G	4: 33,226,070	P111R	probably damaging	Het
Tbc1d14	G	A	5: 36,530,448		probably benign	Het
Tcf23	A	G	5: 30,970,120	K89E	probably benign	Het
Tmem74	C	T	15: 43,866,919	G243R	probably damaging	Het
Ufd1	T	C	16: 18,821,103	V119A	possibly damaging	Het
Vmn2r72	A	T	7: 85,751,960	Y84N	probably damaging	Het
Zfp120	A	T	2: 150,117,407	C354S	probably damaging	Het
Zfp69	G	A	4: 120,949,352	T28I	possibly damaging	Het
Zfp959	T	C	17: 55,897,299	V112A	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
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
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'- TGGGGCCCATGAATCTGTAAG -3'
(R):5'- TGGTATCAGATGTCAGGGGAC -3'

Sequencing Primer
(F):5'- GGATCCTACACTTCCAGT -3'
(R):5'- ACATCAGGAACATGGGGATATC -3'

Posted On

2020-09-02