Mutagenetix > Incidental Mutation

Incidental Mutation 'R7936:Zfp36l2'

648776

Institutional Source

Beutler Lab

Gene Symbol

Zfp36l2

Ensembl Gene

ENSMUSG00000045817

Gene Name

zinc finger protein 36, C3H type-like 2

Synonyms

ERF2, Brf2, Tis11d

MMRRC Submission

045982-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.856) question?

Stock #

R7936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84491359-84495375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84495090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 11 (D11E)

Ref Sequence

ENSEMBL: ENSMUSP00000050820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047524] [ENSMUST00000060366]

AlphaFold

P23949

Predicted Effect

probably benign
Transcript: ENSMUST00000047524

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	457	926	3e-6	SMART
Pfam:DUF2428	938	1239	1.6e-93	PFAM
SCOP:d1gw5a_	1343	1802	7e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060366
AA Change: D11E

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050820
Gene: ENSMUSG00000045817
AA Change: D11E

Domain	Start	End	E-Value	Type
Pfam:Tis11B_N	1	144	1.5e-43	PFAM
ZnF_C3H1	155	182	9.8e-9	SMART
ZnF_C3H1	193	220	2.1e-8	SMART
low complexity region	223	235	N/A	INTRINSIC
low complexity region	286	340	N/A	INTRINSIC
low complexity region	345	364	N/A	INTRINSIC
low complexity region	401	418	N/A	INTRINSIC
low complexity region	436	470	N/A	INTRINSIC

Meta Mutation Damage Score

0.3076

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice expressing decreased levels of an amino-terminal truncated protein display female infertility whereas mice homozygous for a null allele die within two weeks as a result of hematopoietic system defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,900,445 (GRCm39)	L438*	probably null	Het
Adamts18	T	A	8: 114,493,760 (GRCm39)	I460F	probably damaging	Het
Api5	C	T	2: 94,268,392 (GRCm39)		probably benign	Het
Arap2	A	G	5: 62,888,048 (GRCm39)	S433P	probably damaging	Het
Arhgap26	T	C	18: 39,338,340 (GRCm39)	Y371H	probably damaging	Het
Asf1b	T	C	8: 84,695,848 (GRCm39)	I163T	probably benign	Het
Cacna2d2	A	G	9: 107,401,326 (GRCm39)	N696S	probably damaging	Het
Carns1	A	C	19: 4,216,152 (GRCm39)	S677A	probably benign	Het
Cd276	G	A	9: 58,448,113 (GRCm39)		probably benign	Het
Cdk8	T	A	5: 146,236,644 (GRCm39)	M353K	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chsy3	A	G	18: 59,542,418 (GRCm39)	I519V	probably damaging	Het
Chtop	T	C	3: 90,414,658 (GRCm39)		probably benign	Het
Clstn3	T	A	6: 124,408,972 (GRCm39)	D892V	possibly damaging	Het
Col16a1	A	T	4: 129,990,664 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,345,983 (GRCm39)	E2441G	possibly damaging	Het
Dpy19l2	T	G	9: 24,469,454 (GRCm39)	D734A	probably damaging	Het
Dusp2	T	A	2: 127,178,812 (GRCm39)	Y172*	probably null	Het
Efcab3	A	G	11: 104,890,524 (GRCm39)	N4202S	possibly damaging	Het
Efcab3	G	A	11: 104,937,385 (GRCm39)		probably null	Het
Eml4	G	A	17: 83,781,115 (GRCm39)	R771Q	possibly damaging	Het
Fat2	T	A	11: 55,200,993 (GRCm39)	M694L	probably benign	Het
Fat2	C	A	11: 55,201,986 (GRCm39)	E363*	probably null	Het
Gdpgp1	A	G	7: 79,888,826 (GRCm39)	I286V	probably damaging	Het
Gps1	T	A	11: 120,677,199 (GRCm39)	V166E	probably damaging	Het
H60b	T	A	10: 22,162,055 (GRCm39)	N93K	probably benign	Het
Imp4	C	T	1: 34,482,114 (GRCm39)	T79I	probably benign	Het
Kank3	A	G	17: 34,037,841 (GRCm39)	S485G	probably benign	Het
Kcnv2	A	G	19: 27,300,167 (GRCm39)	N6S	probably benign	Het
Krba1	A	T	6: 48,388,603 (GRCm39)	Q534L	probably damaging	Het
Lgr4	A	G	2: 109,836,863 (GRCm39)	N399S	probably damaging	Het
Lgr5	A	G	10: 115,288,952 (GRCm39)	V564A	probably damaging	Het
Lrtm2	A	G	6: 119,297,394 (GRCm39)	F216L	probably benign	Het
Lsm8	T	A	6: 18,849,658 (GRCm39)	M22K	probably benign	Het
Mboat2	C	T	12: 25,005,392 (GRCm39)	T389M	probably damaging	Het
Mcoln1	T	G	8: 3,555,924 (GRCm39)	I73S	probably damaging	Het
Myh7	T	A	14: 55,216,920 (GRCm39)	I1146F	possibly damaging	Het
Naa16	G	A	14: 79,578,486 (GRCm39)	T666I	possibly damaging	Het
Ncoa1	A	G	12: 4,385,873 (GRCm39)	S88P	possibly damaging	Het
Obscn	T	C	11: 58,941,334 (GRCm39)	T4496A	possibly damaging	Het
Or13a28	T	C	7: 140,217,652 (GRCm39)	F13L	probably damaging	Het
Or7a35	T	A	10: 78,853,872 (GRCm39)	F239I	probably damaging	Het
Pdxk	G	T	10: 78,277,012 (GRCm39)	A262D	possibly damaging	Het
Pebp4	T	A	14: 70,089,082 (GRCm39)	L68Q	probably damaging	Het
Pfdn5	C	T	15: 102,236,978 (GRCm39)	H77Y	possibly damaging	Het
Pld1	T	C	3: 28,130,651 (GRCm39)	Y484H	probably damaging	Het
Pou3f3	C	A	1: 42,736,560 (GRCm39)	N85K	unknown	Het
Ppm1m	C	A	9: 106,075,144 (GRCm39)	A134S	probably damaging	Het
Prdm11	A	T	2: 92,806,106 (GRCm39)	S281R	possibly damaging	Het
Prdm2	C	A	4: 142,862,434 (GRCm39)	L285F	probably damaging	Het
Ptchd3	C	T	11: 121,721,939 (GRCm39)	R271*	probably null	Het
Ptprq	A	C	10: 107,488,572 (GRCm39)	V955G	probably damaging	Het
Pygb	A	T	2: 150,657,589 (GRCm39)	M351L	probably benign	Het
Rcl1	G	A	19: 29,095,805 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,786,097 (GRCm39)	T351S	possibly damaging	Het
Slc22a5	T	C	11: 53,760,215 (GRCm39)	N367S	probably damaging	Het
Sox6	A	G	7: 115,143,830 (GRCm39)	V437A	probably benign	Het
Spata16	T	A	3: 26,721,572 (GRCm39)	M31K	possibly damaging	Het
Stab1	C	A	14: 30,879,372 (GRCm39)	V703F	possibly damaging	Het
Tbc1d4	C	T	14: 101,703,190 (GRCm39)	G752R	probably damaging	Het
Tent4b	G	A	8: 88,978,913 (GRCm39)	G505R	probably null	Het
Tes3-ps	C	T	13: 49,647,460 (GRCm39)	A112V	probably benign	Het
Tnfrsf19	T	C	14: 61,208,382 (GRCm39)	T380A	probably benign	Het
Trim75	C	T	8: 65,435,190 (GRCm39)	G420E	probably damaging	Het
Txlnb	A	G	10: 17,703,712 (GRCm39)	D290G	probably benign	Het
Unc5c	T	A	3: 141,534,238 (GRCm39)	F920I	possibly damaging	Het
Vmn1r233	T	A	17: 21,214,237 (GRCm39)	R238*	probably null	Het
Vmn2r113	A	G	17: 23,176,917 (GRCm39)	E567G	probably benign	Het
Vmn2r97	T	A	17: 19,150,662 (GRCm39)	I503K	probably damaging	Het
Wdr62	A	G	7: 29,964,584 (GRCm39)	W387R	probably damaging	Het

Other mutations in Zfp36l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1219:Zfp36l2	UTSW	17	84,495,070 (GRCm39)	critical splice donor site	probably null
R1918:Zfp36l2	UTSW	17	84,494,164 (GRCm39)	missense	probably damaging	0.98
R2126:Zfp36l2	UTSW	17	84,494,403 (GRCm39)	missense	probably damaging	0.99
R4727:Zfp36l2	UTSW	17	84,495,089 (GRCm39)	missense	probably benign	0.07
R4915:Zfp36l2	UTSW	17	84,493,690 (GRCm39)	unclassified	probably benign
R6213:Zfp36l2	UTSW	17	84,493,980 (GRCm39)	missense	probably damaging	0.98
R6814:Zfp36l2	UTSW	17	84,493,521 (GRCm39)	unclassified	probably benign
R7011:Zfp36l2	UTSW	17	84,493,861 (GRCm39)	missense	possibly damaging	0.61
R7455:Zfp36l2	UTSW	17	84,494,575 (GRCm39)	missense	probably damaging	0.99
R7706:Zfp36l2	UTSW	17	84,494,346 (GRCm39)	missense	probably benign	0.19
R7969:Zfp36l2	UTSW	17	84,493,252 (GRCm39)	missense	unknown
R8163:Zfp36l2	UTSW	17	84,494,551 (GRCm39)	missense	possibly damaging	0.91
R8296:Zfp36l2	UTSW	17	84,494,552 (GRCm39)	missense	probably damaging	0.99
R9634:Zfp36l2	UTSW	17	84,494,056 (GRCm39)	missense	probably damaging	1.00
R9700:Zfp36l2	UTSW	17	84,494,184 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTAGCCATGTGATCCTGGG -3'
(R):5'- AATTGGCGGCGACCAATGAG -3'

Sequencing Primer
(F):5'- AAACGCTGTCCGGGAAGTC -3'
(R):5'- CTGTATAAAGGGCGCACGC -3'

Posted On

2020-09-15