Mutagenetix > Incidental Mutation

Incidental Mutation 'R5908:Zfp36l1'

460806

Institutional Source

Beutler Lab

Gene Symbol

Zfp36l1

Ensembl Gene

ENSMUSG00000021127

Gene Name

zinc finger protein 36, C3H type-like 1

Synonyms

Brf1, D530020L18Rik, cMG1, TIS11b

MMRRC Submission

044105-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5908 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

80154534-80159787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80156449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 311 (S311T)

Ref Sequence

ENSEMBL: ENSMUSP00000127522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021552] [ENSMUST00000165114] [ENSMUST00000218835] [ENSMUST00000219642]

AlphaFold

P23950

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021552
AA Change: S311T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021552
Gene: ENSMUSG00000021127
AA Change: S311T

Domain	Start	End	E-Value	Type
Pfam:Tis11B_N	1	107	3.2e-50	PFAM
ZnF_C3H1	114	141	1.07e-9	SMART
ZnF_C3H1	152	179	2.1e-8	SMART
low complexity region	201	218	N/A	INTRINSIC
low complexity region	222	231	N/A	INTRINSIC
low complexity region	290	318	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165114
AA Change: S311T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127522
Gene: ENSMUSG00000021127
AA Change: S311T

Domain	Start	End	E-Value	Type
Pfam:Tis11B_N	1	105	2.7e-33	PFAM
ZnF_C3H1	114	141	1.07e-9	SMART
ZnF_C3H1	152	179	2.1e-8	SMART
low complexity region	201	218	N/A	INTRINSIC
low complexity region	222	231	N/A	INTRINSIC
low complexity region	290	318	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181323

Predicted Effect

unknown
Transcript: ENSMUST00000218835
AA Change: S30T

Predicted Effect

probably benign
Transcript: ENSMUST00000219642

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

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, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. This gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display embryonic lethality with failure of chorioallantoic fusion. [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
Abcc10	A	T	17: 46,624,730 (GRCm39)	L198H	probably damaging	Het
Anks1	C	T	17: 28,214,993 (GRCm39)	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,503,165 (GRCm39)	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,132,297 (GRCm39)		noncoding transcript	Het
B9d2	T	A	7: 25,382,724 (GRCm39)	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,159,572 (GRCm39)	T117A	probably benign	Het
Btbd8	T	G	5: 107,655,460 (GRCm39)	D574E	probably damaging	Het
Cabin1	A	G	10: 75,557,366 (GRCm39)	S1091P	probably damaging	Het
Clip3	C	A	7: 29,996,298 (GRCm39)	D64E	probably damaging	Het
Col6a5	C	G	9: 105,740,000 (GRCm39)	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,785,136 (GRCm39)	M178L	probably benign	Het
Crtc3	T	A	7: 80,245,542 (GRCm39)	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,049,065 (GRCm39)	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,926,817 (GRCm39)	V189D	probably damaging	Het
Etl4	C	T	2: 20,748,718 (GRCm39)	A483V	probably damaging	Het
Foxo3	T	C	10: 42,072,583 (GRCm39)	I645V	probably benign	Het
Gm4841	A	G	18: 60,403,506 (GRCm39)	S196P	possibly damaging	Het
Hip1	A	G	5: 135,453,717 (GRCm39)		probably null	Het
Il36rn	G	T	2: 24,167,502 (GRCm39)		probably benign	Het
Ints2	A	G	11: 86,106,371 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,124,523 (GRCm39)	D259G	probably benign	Het
Lyst	T	A	13: 13,871,346 (GRCm39)	Y2694*	probably null	Het
Map4k2	T	C	19: 6,401,346 (GRCm39)		probably benign	Het
Marchf10	C	T	11: 105,281,065 (GRCm39)	V407I	probably benign	Het
Mast4	C	A	13: 102,874,764 (GRCm39)	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,293,366 (GRCm39)	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,039,392 (GRCm39)	F801S	probably damaging	Het
Nhsl3	A	G	4: 129,115,941 (GRCm39)	S908P	probably damaging	Het
Notch2	T	C	3: 98,031,239 (GRCm39)		probably benign	Het
Nr2e1	T	C	10: 42,448,765 (GRCm39)	S158G	probably benign	Het
Nup214	A	G	2: 31,881,353 (GRCm39)	I404V	probably benign	Het
Or13n4	T	C	7: 106,423,404 (GRCm39)	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pik3r3	A	T	4: 116,129,955 (GRCm39)	D213V	probably benign	Het
Pip5k1b	A	T	19: 24,374,501 (GRCm39)	S27T	possibly damaging	Het
Pkp1	G	A	1: 135,846,621 (GRCm39)	Q44*	probably null	Het
Pnma8b	C	T	7: 16,680,968 (GRCm39)	R651C	unknown	Het
Pnpt1	T	A	11: 29,080,887 (GRCm39)	S44T	probably benign	Het
Polb	A	T	8: 23,132,319 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,165,984 (GRCm39)	N85S	probably damaging	Het
Prim1	A	G	10: 127,853,893 (GRCm39)	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,758,040 (GRCm39)	Y223F	probably benign	Het
Rbak	T	G	5: 143,159,391 (GRCm39)	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,117,970 (GRCm39)	R123G	probably benign	Het
Sh3bp4	T	G	1: 89,073,605 (GRCm39)	S818A	probably damaging	Het
Sh3rf3	C	G	10: 58,885,270 (GRCm39)	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,293,090 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,103,678 (GRCm39)	E1181G	probably benign	Het
Taf2	G	A	15: 54,935,402 (GRCm39)		probably benign	Het
Taf7l2	A	T	10: 115,949,133 (GRCm39)	I131N	probably benign	Het
Tbc1d9	A	T	8: 83,976,174 (GRCm39)	M578L	probably benign	Het
Tinagl1	G	T	4: 130,066,763 (GRCm39)	Y111*	probably null	Het
Tor2a	T	C	2: 32,651,697 (GRCm39)	L304P	probably damaging	Het
Trp53bp1	A	G	2: 121,067,304 (GRCm39)	V474A	probably benign	Het
Trrap	C	A	5: 144,723,518 (GRCm39)	A325E	probably damaging	Het
Ube4a	A	G	9: 44,859,322 (GRCm39)		probably null	Het
Use1	G	C	8: 71,822,257 (GRCm39)	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,973,563 (GRCm39)	Q407K	probably benign	Het
Zfp729b	T	C	13: 67,739,374 (GRCm39)	K964E	probably benign	Het
Zfp974	T	A	7: 27,610,382 (GRCm39)	M448L	probably benign	Het
Zfyve28	A	T	5: 34,374,214 (GRCm39)	V600E	possibly damaging	Het

Other mutations in Zfp36l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Zfp36l1	APN	12	80,157,238 (GRCm39)	missense	probably damaging	0.97
brontosouris	UTSW	12	80,159,596 (GRCm39)	nonsense	probably null
R4714:Zfp36l1	UTSW	12	80,157,270 (GRCm39)	missense	possibly damaging	0.92
R4898:Zfp36l1	UTSW	12	80,157,298 (GRCm39)	missense	probably benign	0.37
R6173:Zfp36l1	UTSW	12	80,156,320 (GRCm39)	splice site	probably null
R6235:Zfp36l1	UTSW	12	80,159,596 (GRCm39)	nonsense	probably null
RF014:Zfp36l1	UTSW	12	80,156,518 (GRCm39)	missense	probably benign	0.08
Z1177:Zfp36l1	UTSW	12	80,156,431 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCTGAGCTTAAATGTATCAATGTG -3'
(R):5'- TGGCACCAATAACCCCTTCG -3'

Sequencing Primer
(F):5'- AAATGTATCAATGTGGGGTTTGAG -3'
(R):5'- CGCCTTTTCCAGCCAGG -3'

Posted On

2017-02-28