Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01623:Zfr2'

278700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfr2

Ensembl Gene

ENSMUSG00000034949

Gene Name

zinc finger RNA binding protein 2

Synonyms

9130206N08Rik, 2010013I23Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01623

Quality Score

Status

Chromosome

Chromosomal Location

81233155-81252123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81251359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 850 (M850I)

Ref Sequence

ENSEMBL: ENSMUSP00000113913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117798] [ENSMUST00000119547]

AlphaFold

E9Q5M4

Predicted Effect

probably benign
Transcript: ENSMUST00000117798
AA Change: M850I

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

SMART Domains

Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: M850I

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: ENSMUST00000119547

SMART Domains

Protein: ENSMUSP00000113576
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	9	67	1.37e-5	SMART
SH2	78	160	4.87e-31	SMART
TyrKc	193	436	2.88e-129	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132174

Predicted Effect

unknown
Transcript: ENSMUST00000137999
AA Change: E175K

SMART Domains

Protein: ENSMUSP00000120853
Gene: ENSMUSG00000034949
AA Change: E175K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	G	A	14: 35,810,067	Q184*	probably null	Het
A1bg	A	C	15: 60,917,893	I502S	possibly damaging	Het
Actl11	T	C	9: 107,928,576	S33P	probably benign	Het
Aftph	G	T	11: 20,709,632	D730E	probably damaging	Het
Arhgap29	A	G	3: 121,974,124		probably benign	Het
Brf1	T	G	12: 112,961,175	E643A	probably benign	Het
Caskin1	G	T	17: 24,503,940		probably null	Het
Ccnjl	T	C	11: 43,585,327	V259A	probably benign	Het
Ccser2	G	T	14: 36,940,963	T88K	probably benign	Het
Cdk17	T	C	10: 93,238,962		probably benign	Het
Clec16a	G	A	16: 10,577,910	S309N	possibly damaging	Het
Cpxm1	C	A	2: 130,391,271	A633S	probably benign	Het
Ctnnbl1	A	T	2: 157,819,548	N326I	probably damaging	Het
Cyp46a1	T	C	12: 108,351,975	V215A	possibly damaging	Het
Dnah6	T	C	6: 73,144,718	Y1427C	probably damaging	Het
Dpy19l3	G	A	7: 35,722,744	T228I	probably damaging	Het
Fam131c	C	T	4: 141,382,450	A131V	possibly damaging	Het
Fam71e2	A	G	7: 4,758,723	V330A	probably benign	Het
Fat1	A	G	8: 45,029,555	T3061A	possibly damaging	Het
Fgl2	T	A	5: 21,373,177	L154H	possibly damaging	Het
Fhod3	T	A	18: 25,022,867	I514K	probably benign	Het
Frem3	A	G	8: 80,613,915	T946A	probably benign	Het
Gan	T	A	8: 117,187,178	V105D	probably damaging	Het
Gm28043	T	C	17: 29,676,248	F134L	probably benign	Het
Gramd1c	A	G	16: 43,990,698	V221A	probably damaging	Het
Hacd1	A	G	2: 14,035,856	V196A	probably benign	Het
Kcna6	C	A	6: 126,738,613	V438L	probably damaging	Het
Klhl41	T	C	2: 69,678,238	V512A	probably benign	Het
Lrfn1	A	G	7: 28,466,686	T502A	probably damaging	Het
Notch3	A	T	17: 32,158,870	F105I	possibly damaging	Het
Olfr1023	A	T	2: 85,886,962	H54L	probably benign	Het
Olfr142	T	G	2: 90,252,609	K126N	probably damaging	Het
P3h1	C	T	4: 119,235,283	T171I	probably damaging	Het
Pcdhb1	A	G	18: 37,266,313	E439G	possibly damaging	Het
Pik3c3	A	T	18: 30,290,525	K225*	probably null	Het
Pik3c3	A	G	18: 30,293,049		probably benign	Het
Pik3r5	T	A	11: 68,486,626		probably null	Het
Pnpt1	A	C	11: 29,148,272		probably benign	Het
Ppp2r1b	T	A	9: 50,878,122	V495D	probably damaging	Het
Rbfox3	C	A	11: 118,505,614		probably benign	Het
Sec14l2	G	A	11: 4,103,966	P234S	possibly damaging	Het
Sec16a	A	C	2: 26,438,903	D1033E	probably benign	Het
Sept14	A	G	5: 129,685,955	V357A	probably damaging	Het
Setx	T	C	2: 29,163,009	V2095A	possibly damaging	Het
Sf3a3	C	T	4: 124,718,343	T131I	possibly damaging	Het
Snrpa	A	T	7: 27,192,970	M55K	probably benign	Het
Swt1	G	T	1: 151,411,009	T244N	probably benign	Het
Tbl1xr1	A	G	3: 22,192,074	T253A	probably benign	Het
Tst	G	T	15: 78,399,764	R288S	probably benign	Het
Vmn2r60	A	G	7: 42,136,486	I238V	probably benign	Het
Zbtb14	A	G	17: 69,388,189	K294R	probably benign	Het
Zfp710	T	A	7: 80,081,123	V16E	probably damaging	Het
Zfpm2	A	G	15: 41,101,924	T602A	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
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
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

Posted On

2015-04-16