Mutagenetix > Incidental Mutation

Incidental Mutation 'R0241:Zfp36'

59483

Institutional Source

Beutler Lab

Gene Symbol

Zfp36

Ensembl Gene

ENSMUSG00000044786

Gene Name

zinc finger protein 36

Synonyms

Tis11, Nup475, Zfp-36, Tristetraprolin, Ttp

MMRRC Submission

038479-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R0241 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

28076208-28078680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28077759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 50 (V50I)

Ref Sequence

ENSEMBL: ENSMUSP00000146830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051241] [ENSMUST00000209061]

AlphaFold

P22893

Predicted Effect

probably damaging
Transcript: ENSMUST00000051241
AA Change: V62I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057815
Gene: ENSMUSG00000044786
AA Change: V62I

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
ZnF_C3H1	95	122	7.54e-10	SMART
ZnF_C3H1	133	160	7.31e-8	SMART
low complexity region	178	222	N/A	INTRINSIC
low complexity region	279	289	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208885

Predicted Effect

probably damaging
Transcript: ENSMUST00000209061
AA Change: V50I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

99% (72/73)

MGI Phenotype

PHENOTYPE: Homozygotes are normal at birth but soon develop myeloid hyperplasia, cachexia, patchy alopecia, dermatitis, arthritis, loss of adiposity, conjunctivitis, glomerular mesangial thickening and autoimmunity, with variable severity. All aspects of the syndrome are normalized by TNF antibody treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Anapc1	A	T	2: 128,470,549 (GRCm39)	M1527K	possibly damaging	Het
Arfgef3	T	A	10: 18,474,962 (GRCm39)	I1575F	probably damaging	Het
Atp4a	G	T	7: 30,416,560 (GRCm39)	G446C	probably benign	Het
Bicra	A	T	7: 15,709,070 (GRCm39)	M1188K	probably damaging	Het
Brd7	G	A	8: 89,072,478 (GRCm39)	R331W	probably benign	Het
Cactin	A	G	10: 81,158,486 (GRCm39)	T151A	probably benign	Het
Cadps	G	A	14: 12,376,675 (GRCm38)	T1274M	probably damaging	Het
Catsper3	T	C	13: 55,952,667 (GRCm39)	M175T	probably damaging	Het
Chd5	A	G	4: 152,450,589 (GRCm39)	D605G	probably damaging	Het
Chst12	G	A	5: 140,510,054 (GRCm39)	R227H	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cimap1d	C	T	10: 79,480,564 (GRCm39)		probably null	Het
Cobl	A	T	11: 12,204,524 (GRCm39)	V644E	probably benign	Het
Ddx31	A	G	2: 28,738,303 (GRCm39)	T155A	probably damaging	Het
Dnah3	T	C	7: 119,521,953 (GRCm39)	Q4069R	probably damaging	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Doc2b	A	G	11: 75,663,387 (GRCm39)	V355A	probably damaging	Het
Dock10	A	T	1: 80,556,340 (GRCm39)	S578T	probably benign	Het
Duox1	T	C	2: 122,163,878 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,495,509 (GRCm39)		probably null	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcer2a	A	G	8: 3,738,796 (GRCm39)		probably null	Het
Fmnl1	G	A	11: 103,072,996 (GRCm39)		probably null	Het
Fry	A	T	5: 150,183,811 (GRCm39)		probably benign	Het
Git2	T	C	5: 114,871,290 (GRCm39)	E208G	probably damaging	Het
Hs6st3	T	C	14: 119,376,232 (GRCm39)	F136L	probably benign	Het
Hydin	G	A	8: 111,124,655 (GRCm39)	V555I	probably benign	Het
Kcns1	A	T	2: 164,010,300 (GRCm39)	I153N	probably damaging	Het
Kmt2b	A	G	7: 30,276,494 (GRCm39)	L1726S	probably damaging	Het
Loxl3	A	G	6: 83,027,114 (GRCm39)	D615G	probably damaging	Het
Negr1	T	A	3: 156,914,036 (GRCm39)		probably benign	Het
Nfasc	C	A	1: 132,564,731 (GRCm39)	A70S	probably benign	Het
Or4d1	T	A	11: 87,804,860 (GRCm39)	N291Y	probably damaging	Het
Or4p21	A	T	2: 88,276,889 (GRCm39)	M131K	possibly damaging	Het
Or52n4	A	G	7: 104,294,450 (GRCm39)	M41T	probably benign	Het
Or5g29	A	G	2: 85,421,154 (GRCm39)	K90R	probably benign	Het
Otud7a	T	C	7: 63,346,992 (GRCm39)		probably benign	Het
Pacs2	T	C	12: 113,032,890 (GRCm39)		probably benign	Het
Pde7b	A	G	10: 20,311,962 (GRCm39)	C239R	probably damaging	Het
Pdzd2	A	T	15: 12,368,027 (GRCm39)	L2654Q	probably damaging	Het
Pgap1	T	C	1: 54,575,110 (GRCm39)		probably null	Het
Proz	T	A	8: 13,115,356 (GRCm39)	M124K	probably benign	Het
Raet1d	A	G	10: 22,247,328 (GRCm39)	T135A	probably benign	Het
Rapgef1	A	G	2: 29,592,682 (GRCm39)	N558S	possibly damaging	Het
Rpl7	C	G	1: 16,173,446 (GRCm39)	G101A	possibly damaging	Het
Sec14l1	G	A	11: 117,037,924 (GRCm39)		probably benign	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Simc1	G	T	13: 54,698,338 (GRCm39)	L1319F	probably damaging	Het
Sspo	A	G	6: 48,438,429 (GRCm39)	E1499G	possibly damaging	Het
Tango6	C	T	8: 107,473,993 (GRCm39)		probably benign	Het
Tas2r118	T	C	6: 23,969,338 (GRCm39)	Y241C	probably damaging	Het
Tbck	A	G	3: 132,430,636 (GRCm39)	E344G	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Thop1	T	A	10: 80,916,079 (GRCm39)		probably benign	Het
Tmbim7	A	T	5: 3,716,866 (GRCm39)	Y66F	probably benign	Het
Tmc8	C	T	11: 117,677,207 (GRCm39)		probably benign	Het
Tnfrsf19	A	G	14: 61,211,041 (GRCm39)	S216P	possibly damaging	Het
Trappc2l	A	G	8: 123,341,132 (GRCm39)		probably benign	Het
Trim67	A	G	8: 125,549,929 (GRCm39)	R520G	probably damaging	Het
Ubp1	T	A	9: 113,795,655 (GRCm39)		probably null	Het
Vil1	T	C	1: 74,465,853 (GRCm39)	L548P	probably damaging	Het
Wdr3	A	G	3: 100,052,973 (GRCm39)	V593A	probably damaging	Het
Wdr5	A	G	2: 27,423,025 (GRCm39)	Y243C	probably damaging	Het
Zan	T	C	5: 137,420,084 (GRCm39)	T2858A	unknown	Het
Zbtb37	A	T	1: 160,847,939 (GRCm39)	V356E	probably benign	Het
Zfp563	A	T	17: 33,323,659 (GRCm39)	S85C	possibly damaging	Het

Other mutations in Zfp36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01729:Zfp36	APN	7	28,077,888 (GRCm39)	missense	probably damaging	0.99
IGL02094:Zfp36	APN	7	28,077,188 (GRCm39)	missense	probably benign
R0241:Zfp36	UTSW	7	28,077,759 (GRCm39)	missense	probably damaging	0.96
R0288:Zfp36	UTSW	7	28,077,666 (GRCm39)	missense	probably benign
R1941:Zfp36	UTSW	7	28,077,071 (GRCm39)	missense	probably damaging	0.98
R3625:Zfp36	UTSW	7	28,077,681 (GRCm39)	missense	probably benign	0.00
R3744:Zfp36	UTSW	7	28,077,201 (GRCm39)	missense	probably benign	0.21
R4385:Zfp36	UTSW	7	28,077,116 (GRCm39)	missense	probably benign	0.11
R5387:Zfp36	UTSW	7	28,077,293 (GRCm39)	missense	possibly damaging	0.72
R9787:Zfp36	UTSW	7	28,077,344 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCTGATGCTTTGTCGCAGCAC -3'
(R):5'- TCGATGAGCCATGACCTGTCATCC -3'

Sequencing Primer
(F):5'- AGAACTTGTGGCAGAGTTCC -3'
(R):5'- TGTCATCCGACCACGGAG -3'

Posted On

2013-07-11