Mutagenetix > Incidental Mutation

Incidental Mutation 'R8163:Zfp36l2'

633644

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

067589-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R8163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84491359-84495375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84494551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 29 (N29D)

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

possibly damaging
Transcript: ENSMUST00000060366
AA Change: N29D

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050820
Gene: ENSMUSG00000045817
AA Change: N29D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (53/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,304,883 (GRCm39)	I11V	unknown	Het
Ago3	G	T	4: 126,262,377 (GRCm39)	T391K	probably benign	Het
Asap1	A	G	15: 63,963,899 (GRCm39)	W1100R	probably damaging	Het
Bbof1	T	C	12: 84,473,536 (GRCm39)	S289P	possibly damaging	Het
Cd3d	T	C	9: 44,896,952 (GRCm39)	F109L	probably benign	Het
Cebpd	A	T	16: 15,705,841 (GRCm39)	E218V	probably damaging	Het
Cfl1	T	C	19: 5,543,528 (GRCm39)		probably benign	Het
Cpa2	A	C	6: 30,564,350 (GRCm39)	I394L	probably damaging	Het
Ddx50	C	A	10: 62,475,678 (GRCm39)	V348F	possibly damaging	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Echs1	A	G	7: 139,692,357 (GRCm39)	V130A	possibly damaging	Het
Eif2s2	A	G	2: 154,734,621 (GRCm39)	S2P	probably benign	Het
Fastk	A	G	5: 24,649,273 (GRCm39)	I38T	probably benign	Het
Fat3	G	A	9: 15,871,055 (GRCm39)	R3779C	probably damaging	Het
Fat4	A	T	3: 39,033,881 (GRCm39)	N2511I	possibly damaging	Het
Fbxw13	G	A	9: 109,012,122 (GRCm39)	T315I	probably benign	Het
Fzd5	A	T	1: 64,774,352 (GRCm39)	Y470N	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gpr25	T	C	1: 136,187,596 (GRCm39)	D339G	probably damaging	Het
Igsf9b	T	A	9: 27,233,907 (GRCm39)		probably null	Het
Il5	T	A	11: 53,614,813 (GRCm39)	M125K	possibly damaging	Het
Iqub	G	A	6: 24,449,714 (GRCm39)	T717I	probably benign	Het
Katnb1	T	C	8: 95,823,014 (GRCm39)	F403S	probably damaging	Het
Krt26	T	C	11: 99,220,498 (GRCm39)	I451V	probably benign	Het
Krt88	T	C	15: 101,351,389 (GRCm39)	L132P	probably damaging	Het
Kynu	G	T	2: 43,518,966 (GRCm39)	G245V	probably damaging	Het
Lap3	C	T	5: 45,669,389 (GRCm39)	R513*	probably null	Het
Lin9	C	T	1: 180,486,691 (GRCm39)	R126W	probably damaging	Het
Lrrc37	A	T	11: 103,506,688 (GRCm39)	I1760K	unknown	Het
Lrrtm2	C	T	18: 35,346,777 (GRCm39)	R175H	probably damaging	Het
N4bp2l2	A	G	5: 150,584,774 (GRCm39)	L60P	probably damaging	Het
Ncr1	T	C	7: 4,343,828 (GRCm39)	F142S	probably damaging	Het
Nktr	TAGAAG	TAG	9: 121,579,929 (GRCm39)		probably benign	Het
Or5b95	A	G	19: 12,657,552 (GRCm39)	I27V	probably benign	Het
Parp16	T	A	9: 65,137,231 (GRCm39)	H152Q	probably damaging	Het
Plaa	C	G	4: 94,457,640 (GRCm39)	V777L	probably benign	Het
Prnp	A	G	2: 131,778,908 (GRCm39)	T187A	probably benign	Het
Pzp	T	G	6: 128,489,157 (GRCm39)	I485L	probably benign	Het
Rc3h1	T	A	1: 160,782,629 (GRCm39)	Y703N	probably damaging	Het
Rngtt	G	A	4: 33,325,109 (GRCm39)	C110Y	probably damaging	Het
Rps10	G	A	17: 27,853,085 (GRCm39)	R95C	probably benign	Het
Scn9a	T	A	2: 66,314,745 (GRCm39)	I1658F	probably damaging	Het
Sec16a	A	T	2: 26,306,433 (GRCm39)	W702R		Het
Taf6	G	T	5: 138,180,238 (GRCm39)	Q339K	possibly damaging	Het
Tbcd	C	T	11: 121,384,711 (GRCm39)	T315M	probably benign	Het
Tmem198	C	T	1: 75,459,671 (GRCm39)	P209S	possibly damaging	Het
Vmn2r78	G	A	7: 86,603,660 (GRCm39)	A613T	probably damaging	Het
Vps13c	G	A	9: 67,857,720 (GRCm39)	E2651K	probably benign	Het
Wdfy4	C	T	14: 32,873,545 (GRCm39)	V255I		Het
Zfhx3	A	G	8: 109,675,925 (GRCm39)	D2325G	probably damaging	Het
Zfp692	T	A	11: 58,201,199 (GRCm39)		probably null	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
R7936:Zfp36l2	UTSW	17	84,495,090 (GRCm39)	missense	probably benign	0.16
R7969:Zfp36l2	UTSW	17	84,493,252 (GRCm39)	missense	unknown
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'- ATTTGCTCTCCTTGGTGACCAG -3'
(R):5'- CAGGATCACATGGCTAGACC -3'

Sequencing Primer
(F):5'- TCCTTGAGCTGGCCGTAG -3'
(R):5'- ATCACATGGCTAGACCCGGAG -3'

Posted On

2020-07-13