Mutagenetix > Incidental Mutation

Incidental Mutation 'R7012:Lin28a'

545065

Institutional Source

Beutler Lab

Gene Symbol

Lin28a

Ensembl Gene

ENSMUSG00000050966

Gene Name

lin-28 homolog A

Synonyms

Tex17, Lin28, Lin-28, Lin28a

MMRRC Submission

045113-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133730641-133746152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133746040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 5 (S5P)

Ref Sequence

ENSEMBL: ENSMUSP00000050488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051674] [ENSMUST00000176897]

AlphaFold

Q8K3Y3

PDB Structure

Mouse Lin28A in complex with let-7d microRNA pre-element [X-RAY DIFFRACTION]
Mouse Lin28A in complex with let-7f-1 microRNA pre-element [X-RAY DIFFRACTION]
Mouse Lin28A in complex with let-7g microRNA pre-element [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000051674
AA Change: S5P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966
AA Change: S5P

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
CSP	41	112	5.63e-14	SMART
ZnF_C2HC	138	154	1.91e-2	SMART
ZnF_C2HC	160	176	4.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176897

SMART Domains

Protein: ENSMUSP00000135736
Gene: ENSMUSG00000050966

Domain	Start	End	E-Value	Type
Pfam:CSD	1	62	5.8e-15	PFAM

Meta Mutation Damage Score

0.1523

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a LIN-28 family RNA-binding protein that acts as a posttranscriptional regulator of genes involved in developmental timing and self-renewal in embryonic stem cells. The encoded protein functions through direct interaction with target mRNAs and by disrupting the maturation of certain miRNAs involved in embryonic development. This protein prevents the terminal processing of the LET7 family of microRNAs which are major regulators of cellular growth and differentiation. Aberrant expression of this gene is associated with cancer progression in multiple tissues. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased birth weight and postnatal lethality. In another report, mice homozygous for the same or an identical allele exhibit reduced premordial germ cells and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,769,431 (GRCm39)	F686L	probably benign	Het
Adcy4	C	T	14: 56,017,376 (GRCm39)	V266I	possibly damaging	Het
Adgrb1	A	G	15: 74,401,750 (GRCm39)	T249A	probably damaging	Het
Adss1	A	G	12: 112,600,670 (GRCm39)	D213G	probably benign	Het
Ap1b1	T	G	11: 4,980,963 (GRCm39)	V453G	probably damaging	Het
Apold1	G	A	6: 134,961,007 (GRCm39)	G154R	probably damaging	Het
Birc5	A	G	11: 117,740,262 (GRCm39)	E29G	probably benign	Het
Clcn1	G	A	6: 42,267,542 (GRCm39)	R75H	probably benign	Het
Cngb1	T	A	8: 95,984,583 (GRCm39)	I868F	possibly damaging	Het
Cntn6	T	A	6: 104,703,223 (GRCm39)	V215E	probably damaging	Het
Cntn6	A	G	6: 104,751,441 (GRCm39)	I294V	probably benign	Het
Col6a2	A	T	10: 76,450,511 (GRCm39)	I140N	possibly damaging	Het
Cops5	A	G	1: 10,100,890 (GRCm39)	*147Q	probably null	Het
Dbr1	T	A	9: 99,465,374 (GRCm39)	Y317*	probably null	Het
Dock5	A	C	14: 68,060,035 (GRCm39)	V468G	probably damaging	Het
F13b	A	G	1: 139,444,096 (GRCm39)	I477V	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Git1	T	C	11: 77,390,606 (GRCm39)	L114P	probably damaging	Het
Greb1l	G	T	18: 10,529,707 (GRCm39)		probably null	Het
Itih4	A	G	14: 30,612,706 (GRCm39)	N244S	probably benign	Het
Lipt1	T	C	1: 37,915,060 (GRCm39)	I372T	probably benign	Het
Lysmd4	A	G	7: 66,875,765 (GRCm39)	T143A	probably benign	Het
Muc16	T	C	9: 18,406,914 (GRCm39)		probably null	Het
Or13c9	A	G	4: 52,936,193 (GRCm39)	L30P	probably damaging	Het
Or2y1g	A	T	11: 49,171,823 (GRCm39)	M283L	probably benign	Het
Or5t16	A	T	2: 86,819,051 (GRCm39)	H156Q	possibly damaging	Het
Or6e1	A	G	14: 54,519,674 (GRCm39)	I226T	possibly damaging	Het
Pclo	G	A	5: 14,800,493 (GRCm39)	G4438D	unknown	Het
Phlpp2	T	A	8: 110,603,486 (GRCm39)	F51I	possibly damaging	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rxfp2	T	C	5: 150,004,659 (GRCm39)	V711A	probably benign	Het
Sbno2	A	T	10: 79,905,352 (GRCm39)		probably benign	Het
Setd2	T	A	9: 110,376,751 (GRCm39)	S189T	probably damaging	Het
Sez6	A	G	11: 77,868,621 (GRCm39)	N965S	probably benign	Het
Sh3d19	A	G	3: 85,992,320 (GRCm39)	N116S	probably benign	Het
Slc43a3	T	C	2: 84,777,313 (GRCm39)	Y221H	probably damaging	Het
Slco1a6	T	C	6: 142,032,287 (GRCm39)	I613V	probably benign	Het
Stag3	T	A	5: 138,295,871 (GRCm39)		probably null	Het
Ston1	T	C	17: 88,943,413 (GRCm39)	M273T	probably damaging	Het
Tbc1d32	A	T	10: 56,100,820 (GRCm39)	Y53N	probably damaging	Het
Tmem132b	T	A	5: 125,775,654 (GRCm39)	L376Q	probably damaging	Het
Trim60	A	G	8: 65,453,043 (GRCm39)	V402A	possibly damaging	Het
Tssk5	A	C	15: 76,257,745 (GRCm39)	N178K	probably damaging	Het
Ttll9	T	C	2: 152,844,982 (GRCm39)	I450T	possibly damaging	Het
Tyw1	T	G	5: 130,306,571 (GRCm39)		probably null	Het
Usp16	T	C	16: 87,255,632 (GRCm39)		probably null	Het
Vmn2r97	T	C	17: 19,167,756 (GRCm39)	V670A	probably damaging	Het
Vmn2r98	A	G	17: 19,286,530 (GRCm39)	N343D	probably benign	Het
Zfp472	T	G	17: 33,196,220 (GRCm39)	N98K	probably benign	Het

Other mutations in Lin28a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Lin28a	APN	4	133,735,367 (GRCm39)	missense	probably damaging	1.00
IGL01515:Lin28a	APN	4	133,746,020 (GRCm39)	critical splice donor site	probably null
IGL01725:Lin28a	APN	4	133,735,241 (GRCm39)	nonsense	probably null
R0659:Lin28a	UTSW	4	133,735,410 (GRCm39)	splice site	probably benign
R0730:Lin28a	UTSW	4	133,735,319 (GRCm39)	missense	probably damaging	1.00
R2129:Lin28a	UTSW	4	133,745,465 (GRCm39)	missense	probably benign	0.00
R3196:Lin28a	UTSW	4	133,735,235 (GRCm39)	missense	possibly damaging	0.80
R4998:Lin28a	UTSW	4	133,746,028 (GRCm39)	missense	possibly damaging	0.73
R5734:Lin28a	UTSW	4	133,735,284 (GRCm39)	nonsense	probably null
R6540:Lin28a	UTSW	4	133,745,372 (GRCm39)	missense	possibly damaging	0.85
R7226:Lin28a	UTSW	4	133,733,619 (GRCm39)	missense	probably damaging	1.00
R7972:Lin28a	UTSW	4	133,733,574 (GRCm39)	missense	probably damaging	0.96
R8072:Lin28a	UTSW	4	133,745,453 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TTCCCACAACAAGTTGCCCG -3'
(R):5'- AATTTGGGAGCCTTTGAAAAGCC -3'

Sequencing Primer
(F):5'- TCGGTGTACAAGCCACTGGAAC -3'
(R):5'- GCCTTTGAAAAGCCGTGGG -3'

Posted On

2019-05-13