Mutagenetix > Incidental Mutation

Incidental Mutation 'R0659:Lin28a'

61777

Institutional Source

Beutler Lab

Gene Symbol

Lin28a

Ensembl Gene

ENSMUSG00000050966

Gene Name

lin-28 homolog A

Synonyms

Tex17, Lin28, Lin-28, Lin28a

MMRRC Submission

038844-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0659 (G1)

Quality Score

127

Status

Validated

Chromosome

Chromosomal Location

133730641-133746152 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 133735410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051674] [ENSMUST00000176113] [ENSMUST00000176292] [ENSMUST00000176897]

AlphaFold

Q8K3Y3

Predicted Effect

probably benign
Transcript: ENSMUST00000051674

SMART Domains

Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966

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: ENSMUST00000176113

SMART Domains

Protein: ENSMUSP00000135254
Gene: ENSMUSG00000050966

Domain	Start	End	E-Value	Type
Pfam:CSD	1	32	1.9e-7	PFAM
ZnF_C2HC	58	74	1.91e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176292

SMART Domains

Protein: ENSMUSP00000135608
Gene: ENSMUSG00000050966

Domain	Start	End	E-Value	Type
Pfam:CSD	1	32	1.8e-7	PFAM
ZnF_C2HC	58	74	1.91e-2	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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.6%

Validation Efficiency

99% (72/73)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,140,565 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,992,366 (GRCm39)	H4550R	possibly damaging	Het
Anxa6	A	G	11: 54,874,173 (GRCm39)	V591A	probably damaging	Het
Apol7c	A	G	15: 77,410,473 (GRCm39)	S158P	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Cacna2d4	A	G	6: 119,322,067 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,587,452 (GRCm39)		probably benign	Het
Cep78	C	T	19: 15,933,554 (GRCm39)	V675M	probably damaging	Het
Ces4a	T	C	8: 105,871,554 (GRCm39)		probably benign	Het
Chpf	A	G	1: 75,454,367 (GRCm39)	V137A	probably damaging	Het
Comp	T	C	8: 70,831,751 (GRCm39)	S457P	possibly damaging	Het
Cth	A	G	3: 157,625,752 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,733,563 (GRCm39)	L314P	probably damaging	Het
Ets1	C	T	9: 32,649,589 (GRCm39)	R309C	probably damaging	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gm9875	T	G	2: 13,562,995 (GRCm39)	F108V	unknown	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Greb1	T	C	12: 16,730,213 (GRCm39)	Y1738C	probably damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Hdac5	A	T	11: 102,086,850 (GRCm39)	V70E	probably damaging	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hsd17b3	T	C	13: 64,221,750 (GRCm39)	T92A	possibly damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Mapk6	T	C	9: 75,305,244 (GRCm39)	S58G	probably damaging	Het
Mmp21	G	A	7: 133,279,396 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mroh2a	G	A	1: 88,178,064 (GRCm39)	D1053N	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Mto1	C	T	9: 78,378,072 (GRCm39)	T638M	probably damaging	Het
Mto1	T	A	9: 78,364,790 (GRCm39)	I343N	probably damaging	Het
Myo18b	T	C	5: 112,908,193 (GRCm39)	K2027E	possibly damaging	Het
Myo7a	T	C	7: 97,703,545 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,256,703 (GRCm39)	I107T	probably damaging	Het
Or5k17	C	A	16: 58,746,772 (GRCm39)	R54L	possibly damaging	Het
Or8g37	T	G	9: 39,731,112 (GRCm39)	M59R	possibly damaging	Het
Osbpl5	A	G	7: 143,258,767 (GRCm39)	S268P	probably damaging	Het
Pih1d1	T	A	7: 44,809,399 (GRCm39)	S289T	probably benign	Het
Pik3c2b	A	G	1: 132,998,938 (GRCm39)	D353G	probably damaging	Het
Ppef2	A	G	5: 92,378,368 (GRCm39)	L609P	probably damaging	Het
Prune2	A	T	19: 17,100,199 (GRCm39)	D1901V	probably damaging	Het
Rdh9	T	C	10: 127,612,444 (GRCm39)	Y31H	possibly damaging	Het
Slc5a9	T	A	4: 111,741,068 (GRCm39)	Y526F	possibly damaging	Het
Slitrk5	A	G	14: 111,918,121 (GRCm39)	K582E	probably benign	Het
Sult1c2	A	T	17: 54,138,806 (GRCm39)	M257K	probably damaging	Het
Tasor2	T	C	13: 3,624,448 (GRCm39)	D1834G	probably damaging	Het
Tmem132d	A	G	5: 128,061,351 (GRCm39)	I417T	possibly damaging	Het
Tmem229b	T	C	12: 79,011,908 (GRCm39)	T8A	probably benign	Het
Tmem237	T	C	1: 59,153,253 (GRCm39)	I89M	possibly damaging	Het
Tnfrsf17	A	T	16: 11,137,683 (GRCm39)	D140V	probably damaging	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Trio	A	G	15: 27,831,485 (GRCm39)	L194P	probably damaging	Het
Vmn2r74	T	C	7: 85,605,122 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,828,217 (GRCm39)	M1457K	probably benign	Het
Zfhx2	A	G	14: 55,311,258 (GRCm39)	C479R	possibly damaging	Het
Zfp420	T	A	7: 29,574,964 (GRCm39)	C395S	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zranb2	A	G	3: 157,247,400 (GRCm39)	S193G	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
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
R7012:Lin28a	UTSW	4	133,746,040 (GRCm39)	missense	probably damaging	1.00
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'- CAGAGGCTAAGAGGTTTTAAGCACCAC -3'
(R):5'- CTCAAACTGGGGTGACAGGTATGTG -3'

Sequencing Primer
(F):5'- CTAGGTAACCAGTTGAAGCTCCG -3'
(R):5'- gctgccatcctctgctc -3'

Posted On

2013-07-30