Mutagenetix > Incidental Mutation

Incidental Mutation 'R7114:Zfr2'

551689

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 #

R7114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81233155-81252123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81244725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 411 (D411G)

Ref Sequence

ENSEMBL: ENSMUSP00000113913 (fasta)

Gene Model

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

AlphaFold

E9Q5M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000117798
AA Change: D411G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: D411G

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: 99.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,009,619	A1291T	probably benign	Het
Anks1b	G	A	10: 90,307,698	R523Q	probably damaging	Het
Arhgap12	T	A	18: 6,028,056	I690F	probably damaging	Het
Caln1	T	C	5: 130,839,283	V220A	possibly damaging	Het
Cd79b	T	A	11: 106,311,887	T263S	probably damaging	Het
Cep290	A	T	10: 100,543,358	K67N	probably damaging	Het
Col19a1	T	C	1: 24,337,936	T443A	possibly damaging	Het
Col25a1	A	G	3: 130,595,675	I636V	probably benign	Het
Col9a3	C	T	2: 180,603,797	P154S	unknown	Het
Cyp3a11	T	A	5: 145,858,783	M453L	probably benign	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Eno1b	T	C	18: 48,047,493	V246A	possibly damaging	Het
Eogt	T	C	6: 97,116,004	Y404C	probably damaging	Het
Ephx3	T	A	17: 32,185,032	E380V	possibly damaging	Het
Fancl	T	C	11: 26,407,615	L114P	probably damaging	Het
Flad1	C	T	3: 89,407,530	G287S	probably benign	Het
Gcm1	G	T	9: 78,059,779	K93N	probably damaging	Het
Golga3	T	A	5: 110,202,712	D704E	probably benign	Het
Grb14	A	C	2: 64,916,853	I451S	probably damaging	Het
Gtf3c3	T	C	1: 54,423,507	N366D	probably benign	Het
Hecw1	A	T	13: 14,311,771	H376Q	probably benign	Het
Helb	A	T	10: 120,105,256	V509E	probably benign	Het
Hephl1	C	T	9: 15,069,815	E774K	probably damaging	Het
Hkdc1	T	C	10: 62,393,843	E685G	probably damaging	Het
Igfn1	T	C	1: 135,966,781	T2016A	probably benign	Het
Igkv5-43	T	G	6: 69,823,531	Q57H	probably damaging	Het
Lamc3	T	A	2: 31,930,645	V1224E	probably damaging	Het
Lgals3bp	C	T	11: 118,393,483	W423*	probably null	Het
Mcm9	G	A	10: 53,538,573	T137I	possibly damaging	Het
Mdga1	C	A	17: 29,842,842		probably null	Het
Mocos	C	T	18: 24,666,515	P269S	probably damaging	Het
Naa40	A	G	19: 7,229,957	V134A	probably damaging	Het
Neb	G	A	2: 52,192,559	L5680F	probably damaging	Het
Nedd9	A	G	13: 41,338,623	V137A	probably benign	Het
Nup133	T	C	8: 123,915,373	I784V	probably benign	Het
Nup214	T	C	2: 32,025,244	S1147P	possibly damaging	Het
Olfr248	A	T	1: 174,391,239	M57L	probably damaging	Het
Olfr945	G	T	9: 39,258,601	Q24K	possibly damaging	Het
Plcb4	T	A	2: 135,982,123		probably null	Het
Pomt1	C	T	2: 32,253,836	T671I	probably benign	Het
Pomt2	G	T	12: 87,110,376	P723H	probably damaging	Het
Prpf8	T	A	11: 75,503,355	Y1741*	probably null	Het
Ptprs	C	G	17: 56,451,697	V175L	probably benign	Het
Slc36a4	T	C	9: 15,721,954	F95L	probably benign	Het
Smn1	C	T	13: 100,131,140	P225S	probably benign	Het
Snrpa	A	T	7: 27,191,749	I99N	probably benign	Het
Tgm5	G	T	2: 121,048,496	Y588*	probably null	Het
Tmeff2	T	A	1: 51,185,245		probably null	Het
Tmem120b	T	C	5: 123,116,678	F314S	probably damaging	Het
Trim43b	C	T	9: 89,085,608	R325H	probably benign	Het
Vmn1r26	C	T	6: 58,008,770	A145T	probably benign	Het
Wdfy4	T	C	14: 32,971,574		probably null	Het
Wnt5a	C	A	14: 28,522,756	T320K	probably damaging	Het
Wrn	AGCAGGTAATACATACCG	AG	8: 33,285,121		probably null	Het
Zfp398	T	C	6: 47,865,976	S321P	probably benign	Het
Zfp959	T	A	17: 55,898,501	C513S	possibly damaging	Het
Zkscan5	T	A	5: 145,211,178		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
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'- ATGACACACCCCTGCTAGTG -3'
(R):5'- ACGAATAATGTCTGCCCGC -3'

Sequencing Primer
(F):5'- ACACCCCTGCTAGTGCCATG -3'
(R):5'- GAATAATGTCTGCCCGCTCACC -3'

Posted On

2019-05-15