Mutagenetix > Incidental Mutation

Incidental Mutation 'R8359:Zfr2'

645927

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 #

R8359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81233155-81252123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81242819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 295 (T295I)

Ref Sequence

ENSEMBL: ENSMUSP00000113913 (fasta)

Gene Model

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

AlphaFold

E9Q5M4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117798
AA Change: T295I

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: T295I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 24,806,486	V315D	probably damaging	Het
Adgrf1	A	T	17: 43,310,395	I508F	probably damaging	Het
Atpaf2	T	C	11: 60,407,303	D147G	probably damaging	Het
Brwd1	T	C	16: 96,016,209	T1368A	probably damaging	Het
Cacna1s	A	T	1: 136,116,061	E1626V	probably benign	Het
Carm1	G	A	9: 21,569,469	V80I	possibly damaging	Het
Casc4	A	T	2: 121,867,151		probably benign	Het
Cenpw	T	A	10: 30,198,488	D71V	probably damaging	Het
Cit	T	A	5: 115,984,544		probably null	Het
Ckmt1	A	T	2: 121,363,050	T364S	probably benign	Het
Col6a4	T	C	9: 106,068,384	S844G	probably benign	Het
Crybg1	T	C	10: 43,992,542	E1380G	probably benign	Het
Cyp21a1	A	G	17: 34,802,131		probably null	Het
D430042O09Rik	T	C	7: 125,868,851		probably null	Het
Dhodh	A	C	8: 109,606,406	D12E	probably benign	Het
Dnali1	T	A	4: 125,063,667	T95S	probably damaging	Het
Dynlrb1	A	G	2: 155,249,950	N93D	probably benign	Het
Edem1	C	T	6: 108,846,813	A390V	probably benign	Het
Enthd1	T	C	15: 80,474,155	D388G	probably benign	Het
Fam170a	A	G	18: 50,281,610	T108A	probably damaging	Het
Fryl	A	G	5: 73,075,933	S1531P	probably benign	Het
Hspbap1	C	A	16: 35,824,996	N350K	probably benign	Het
Htr3b	A	C	9: 48,947,296	S94R	probably damaging	Het
Ide	A	T	19: 37,330,487	V42E		Het
Igf2r	A	G	17: 12,683,861	V2434A	probably benign	Het
Kif16b	G	A	2: 142,711,857	A1007V	probably benign	Het
Mccc1	C	T	3: 35,964,344	V614I	probably benign	Het
Mos	A	G	4: 3,871,097	Y240H	probably damaging	Het
Myh11	C	T	16: 14,208,231		probably null	Het
Nexn	T	A	3: 152,248,361	D166V	probably damaging	Het
Olfr1192-ps1	A	T	2: 88,652,988	M279L	probably benign	Het
Olfr328	G	T	11: 58,552,203	T12N	probably benign	Het
Olfr510	T	A	7: 108,668,311	N298K	probably benign	Het
Olfr55	G	A	17: 33,176,921	C173Y	probably damaging	Het
Pkp4	A	G	2: 59,350,551	Y1061C	probably damaging	Het
Pla2g6	T	C	15: 79,287,170	D740G	probably damaging	Het
Pla2r1	T	A	2: 60,443,283	I920L	probably benign	Het
Plekha2	A	G	8: 25,088,391	I31T	probably damaging	Het
Ppp1r16b	G	T	2: 158,761,375	V407L	probably benign	Het
Prss50	A	G	9: 110,862,302	I225V	probably damaging	Het
Rmdn2	A	T	17: 79,628,151	E231V		Het
Sema3c	T	C	5: 17,653,728	S42P	possibly damaging	Het
Sh2d1b1	T	A	1: 170,283,124		probably null	Het
Slc22a20	T	C	19: 5,971,526	I483V	probably benign	Het
Slc30a2	T	C	4: 134,349,379	V275A	probably damaging	Het
Slc6a3	T	A	13: 73,544,883	F207L	probably benign	Het
Slc9a1	A	T	4: 133,420,616	Q648H	probably damaging	Het
Slpi	A	T	2: 164,356,055	M1K	probably null	Het
Smc5	A	C	19: 23,234,079	S564A	possibly damaging	Het
Smchd1	A	T	17: 71,431,243	F542L	probably damaging	Het
Sycp1	T	A	3: 102,820,593	K901N	probably damaging	Het
Synpo2l	T	A	14: 20,666,140	T126S	probably benign	Het
Upp2	A	G	2: 58,777,943	N216S	probably benign	Het
Wnk1	T	C	6: 119,992,447	D349G	probably damaging	Het
Zfp180	C	T	7: 24,104,912	A252V	probably benign	Het
Zkscan16	C	T	4: 58,957,230	T504I	possibly 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
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'- TCAAATCTGAGAAATGGGGCC -3'
(R):5'- CAGTCATCTGTTCACATGTACAG -3'

Sequencing Primer
(F):5'- AGGAGGTGGCTCCAGGAC -3'
(R):5'- GAACTGTAGAGACCTGTACCCTTG -3'

Posted On

2020-09-02