Mutagenetix > Incidental Mutation

Incidental Mutation 'R6213:Zfp36l2'

503596

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

044346-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R6213 (G1)

Quality Score

99.0078

Status

Not validated

Chromosome

Chromosomal Location

84491359-84495375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84493980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 219 (N219S)

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 damaging
Transcript: ENSMUST00000060366
AA Change: N219S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050820
Gene: ENSMUSG00000045817
AA Change: N219S

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

0.2532

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,218,762 (GRCm39)	Y207H	probably damaging	Het
Adcy7	G	A	8: 89,040,765 (GRCm39)	V335M	probably damaging	Het
Apol11b	A	C	15: 77,522,200 (GRCm39)	D32E	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdkn1b	T	A	6: 134,898,206 (GRCm39)	D108E	probably benign	Het
Cep290	A	G	10: 100,359,222 (GRCm39)	D984G	probably benign	Het
Csde1	T	C	3: 102,947,830 (GRCm39)	V128A	probably damaging	Het
Csmd3	A	G	15: 47,492,656 (GRCm39)	S3162P	probably damaging	Het
D5Ertd579e	G	A	5: 36,759,978 (GRCm39)	T1394I	probably damaging	Het
Ddx6	T	A	9: 44,539,990 (GRCm39)	L306Q	probably damaging	Het
Dmxl1	T	A	18: 49,996,082 (GRCm39)	S403T	possibly damaging	Het
F11	G	T	8: 45,694,537 (GRCm39)	T608K	probably damaging	Het
Flrt3	C	T	2: 140,503,085 (GRCm39)	R181H	probably damaging	Het
Hs3st1	A	T	5: 39,771,864 (GRCm39)	C260S	probably damaging	Het
Ighv7-1	A	T	12: 113,860,141 (GRCm39)	S84T	probably damaging	Het
Inpp4b	A	G	8: 82,724,019 (GRCm39)	D332G	probably damaging	Het
Irf2bpl	T	C	12: 86,930,367 (GRCm39)	Q102R	probably benign	Het
Itpr3	T	A	17: 27,330,174 (GRCm39)	D1597E	probably benign	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Lypd8	A	G	11: 58,281,160 (GRCm39)	T241A	probably benign	Het
Map1lc3a	T	C	2: 155,118,935 (GRCm39)		probably null	Het
Mast1	G	A	8: 85,642,198 (GRCm39)	T1052I	probably damaging	Het
Muc2	T	C	7: 141,305,151 (GRCm39)	C152R	probably damaging	Het
Muc5b	A	T	7: 141,415,903 (GRCm39)	M2950L	probably benign	Het
Muc5b	A	G	7: 141,421,356 (GRCm39)	D4282G	possibly damaging	Het
Myo16	G	T	8: 10,420,963 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,734,541 (GRCm39)	F708I	probably damaging	Het
Nadsyn1	A	T	7: 143,353,549 (GRCm39)	F558Y	probably benign	Het
Nat9	A	T	11: 115,075,932 (GRCm39)	W30R	probably damaging	Het
Nipbl	A	G	15: 8,364,390 (GRCm39)	L1338S	probably damaging	Het
Nipsnap3b	A	G	4: 53,017,066 (GRCm39)	T97A	probably benign	Het
Npepps	A	T	11: 97,132,823 (GRCm39)	Y301*	probably null	Het
Nrcam	C	T	12: 44,609,215 (GRCm39)	P447S	possibly damaging	Het
Or14c41	A	G	7: 86,234,485 (GRCm39)	M1V	probably null	Het
Or1o4	T	C	17: 37,591,264 (GRCm39)	S16G	probably benign	Het
Or2a14	A	G	6: 43,130,821 (GRCm39)	N194S	possibly damaging	Het
Or52b4	T	C	7: 102,184,139 (GRCm39)	Y62H	probably damaging	Het
Pacsin3	G	T	2: 91,090,779 (GRCm39)	V29F	probably damaging	Het
Pdzrn3	A	C	6: 101,354,805 (GRCm39)	D15E	probably damaging	Het
Phf20l1	T	C	15: 66,504,752 (GRCm39)		probably null	Het
Pign	A	C	1: 105,516,991 (GRCm39)	V545G	possibly damaging	Het
Pkhd1	T	C	1: 20,593,994 (GRCm39)	N1373S	possibly damaging	Het
Ptchd4	T	A	17: 42,688,251 (GRCm39)	H264Q	probably benign	Het
Ptpn3	G	T	4: 57,265,012 (GRCm39)	Q73K	probably damaging	Het
Ptrh1	G	A	2: 32,666,757 (GRCm39)	V109I	probably benign	Het
Reg1	A	T	6: 78,404,386 (GRCm39)	I87F	possibly damaging	Het
Rrp12	C	A	19: 41,857,217 (GRCm39)	V1186L	probably benign	Het
Sall1	AGTGGTGGTGGTGGTGGTGGTGG	AGTGGTGGTGGTGGTGGTGG	8: 89,759,686 (GRCm39)		probably benign	Het
Slc23a3	A	C	1: 75,108,392 (GRCm39)	F279V	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Suds3	A	G	5: 117,244,727 (GRCm39)	L115P	probably damaging	Het
Tekt2	G	A	4: 126,216,989 (GRCm39)	A260V	probably damaging	Het
Tgfb3	T	A	12: 86,104,621 (GRCm39)	Y391F	probably damaging	Het
Topbp1	T	C	9: 103,209,950 (GRCm39)	S866P	probably benign	Het
Tspan14	A	G	14: 40,635,372 (GRCm39)	Y175H	probably benign	Het
Vars2	T	C	17: 35,971,332 (GRCm39)	T568A	probably benign	Het
Vmn1r216	T	G	13: 23,283,339 (GRCm39)	D7E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zfp281	T	C	1: 136,553,250 (GRCm39)	V76A	probably benign	Het
Zfp626	T	C	7: 27,507,717 (GRCm39)	M42T	probably benign	Het
Zscan21	C	T	5: 138,123,359 (GRCm39)	P13S	probably benign	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
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
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'- AAAGCGAAGGCGTTGTTAGC -3'
(R):5'- AATTTCGGGACCGCTCGTTC -3'

Sequencing Primer
(F):5'- CGTTGTTAGCGCCGGAG -3'
(R):5'- TACAAGACGGAGCTGTGCC -3'

Posted On

2018-02-27