Mutagenetix > Incidental Mutation

Incidental Mutation 'R7706:Zfp36l2'

594309

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

045767-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R7706 (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 84494346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 97 (L97Q)

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: L97Q

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050820
Gene: ENSMUSG00000045817
AA Change: L97Q

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	G	A	17: 46,044,583 (GRCm39)	T46I	unknown	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Atxn7l2	T	C	3: 108,114,719 (GRCm39)	D109G	probably damaging	Het
B4galnt3	C	A	6: 120,195,913 (GRCm39)	V305L	probably benign	Het
C9	T	A	15: 6,488,402 (GRCm39)	N85K	probably benign	Het
Cacna1g	T	C	11: 94,305,867 (GRCm39)	I1941V	probably benign	Het
Capn15	A	G	17: 26,183,125 (GRCm39)	V518A	probably benign	Het
Chst10	A	T	1: 38,905,106 (GRCm39)	Y200N	probably damaging	Het
Ciao3	T	C	17: 26,001,226 (GRCm39)	*493Q	probably null	Het
Cir1	A	G	2: 73,142,823 (GRCm39)	S4P	probably damaging	Het
Cish	G	A	9: 107,177,840 (GRCm39)	R172Q	probably benign	Het
Cnot10	A	T	9: 114,422,506 (GRCm39)	N693K	probably damaging	Het
Ddx6	A	G	9: 44,538,939 (GRCm39)	D249G	probably damaging	Het
Dennd6b	T	C	15: 89,069,447 (GRCm39)	D528G	probably benign	Het
Dmtf1	T	A	5: 9,174,489 (GRCm39)	T484S	possibly damaging	Het
Dnaaf5	T	C	5: 139,138,596 (GRCm39)	V259A	probably damaging	Het
Dzip1l	A	T	9: 99,519,589 (GRCm39)	S39C	probably damaging	Het
Efcab8	T	A	2: 153,623,695 (GRCm39)	M60K		Het
Eml2	T	A	7: 18,920,035 (GRCm39)	V113D	possibly damaging	Het
Fnip1	A	T	11: 54,406,325 (GRCm39)	I1141F	probably benign	Het
Gm7298	T	A	6: 121,712,570 (GRCm39)	S127R	probably damaging	Het
Hcn2	G	A	10: 79,570,017 (GRCm39)	R622Q	possibly damaging	Het
Ift172	C	T	5: 31,423,723 (GRCm39)	W746*	probably null	Het
Irs1	A	G	1: 82,265,412 (GRCm39)	Y935H	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Klhl20	T	C	1: 160,936,827 (GRCm39)	I183V	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lalba	T	C	15: 98,379,474 (GRCm39)	D103G	probably damaging	Het
Lpin3	T	C	2: 160,747,210 (GRCm39)	L822P	probably damaging	Het
Lrrc38	G	A	4: 143,076,845 (GRCm39)	C36Y	probably damaging	Het
Ly6e	T	C	15: 74,830,183 (GRCm39)	S46P	possibly damaging	Het
Nav2	T	C	7: 49,244,067 (GRCm39)	I2098T	probably benign	Het
Nipbl	T	C	15: 8,381,010 (GRCm39)	E594G	probably benign	Het
Or52k2	T	A	7: 102,253,853 (GRCm39)	H97Q	probably benign	Het
Parn	T	C	16: 13,425,117 (GRCm39)	D432G	probably damaging	Het
Pcdh20	A	G	14: 88,704,793 (GRCm39)	S836P	probably damaging	Het
Pcmtd2	C	T	2: 181,496,868 (GRCm39)	R282C	probably damaging	Het
Ppp2r3c	A	G	12: 55,328,490 (GRCm39)	I425T	probably benign	Het
Samm50	T	A	15: 84,085,081 (GRCm39)		probably null	Het
Sars1	C	T	3: 108,338,780 (GRCm39)		probably null	Het
Senp8	A	G	9: 59,645,121 (GRCm39)	Y12H	possibly damaging	Het
Slc13a4	T	C	6: 35,247,290 (GRCm39)	I577V	possibly damaging	Het
Srr	T	G	11: 74,803,961 (GRCm39)		probably null	Het
Steap2	T	A	5: 5,732,967 (GRCm39)	N19I	possibly damaging	Het
Sucla2	A	G	14: 73,806,433 (GRCm39)	Y168C	probably damaging	Het
Tha1	T	C	11: 117,760,281 (GRCm39)	Q275R	probably damaging	Het
Trim56	T	C	5: 137,143,510 (GRCm39)	N2S	probably benign	Het
Tubgcp6	T	A	15: 88,988,426 (GRCm39)	H849L	probably benign	Het
Uevld	A	G	7: 46,597,775 (GRCm39)	I72T	possibly damaging	Het
Ybx1	A	G	4: 119,136,164 (GRCm39)	*323Q	probably null	Het
Zfp354b	C	T	11: 50,819,390 (GRCm39)		probably null	Het
Zfp729a	T	A	13: 67,771,612 (GRCm39)	R78S	possibly 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
R7936:Zfp36l2	UTSW	17	84,495,090 (GRCm39)	missense	probably benign	0.16
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'- GGCACAGCTCTGTCTTGTAC -3'
(R):5'- CTGAACAACATGCTGGACAAG -3'

Sequencing Primer
(F):5'- ACAGCTCCGTCTTGTAGCG -3'
(R):5'- CAACATGCTGGACAAGAAGGC -3'

Posted On

2019-11-12