Mutagenetix > Incidental Mutation

Incidental Mutation 'R3196:Lin28a'

267636

Institutional Source

Beutler Lab

Gene Symbol

Lin28a

Ensembl Gene

ENSMUSG00000050966

Gene Name

lin-28 homolog A

Synonyms

Tex17, Lin28, Lin-28, Lin28a

MMRRC Submission

040617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133730641-133746152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133735235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 134 (S134T)

Ref Sequence

ENSEMBL: ENSMUSP00000050488 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000051674
AA Change: S134T

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966
AA Change: S134T

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
AA Change: S54T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000135254
Gene: ENSMUSG00000050966
AA Change: S54T

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
AA Change: S54T

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135608
Gene: ENSMUSG00000050966
AA Change: S54T

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,132 (GRCm39)	N158K	probably benign	Het
Acnat1	G	C	4: 49,447,457 (GRCm39)	P357A	probably damaging	Het
Akap6	T	A	12: 53,119,240 (GRCm39)	C1102*	probably null	Het
Amelx	T	C	X: 167,964,826 (GRCm39)		probably benign	Het
Brap	G	A	5: 121,803,259 (GRCm39)	V136I	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csgalnact1	TGG	TG	8: 68,913,737 (GRCm39)		probably null	Het
Csk	A	T	9: 57,537,556 (GRCm39)	C119*	probably null	Het
Dcbld1	T	C	10: 52,195,587 (GRCm39)	L265P	probably damaging	Het
Desi1	T	A	15: 81,887,976 (GRCm39)	K31N	probably damaging	Het
Dpy19l2	C	A	9: 24,607,285 (GRCm39)	G59C	probably damaging	Het
Eif2b5	T	C	16: 20,324,272 (GRCm39)	V498A	probably benign	Het
Epdr1	A	T	13: 19,778,815 (GRCm39)	Y94N	probably damaging	Het
Fat1	T	C	8: 45,404,905 (GRCm39)	V552A	probably benign	Het
Focad	A	G	4: 88,325,588 (GRCm39)	E151G	possibly damaging	Het
Frem1	A	G	4: 82,932,351 (GRCm39)	F117L	probably damaging	Het
Frem2	A	T	3: 53,444,752 (GRCm39)	Y2460N	probably damaging	Het
Gm3604	A	T	13: 62,517,868 (GRCm39)	C163*	probably null	Het
Gpalpp1	A	C	14: 76,336,063 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,373,933 (GRCm39)	I858V	probably damaging	Het
Grin2b	ATTGTTGT	ATTGT	6: 135,709,453 (GRCm39)		probably benign	Het
Hps4	A	G	5: 112,512,429 (GRCm39)	T182A	probably damaging	Het
Impa1	A	T	3: 10,394,075 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,131,862 (GRCm39)	S606P	probably damaging	Het
Kif23	T	A	9: 61,839,193 (GRCm39)	R301*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lcp2	G	T	11: 34,040,670 (GRCm39)	A529S	probably benign	Het
Lhx8	G	A	3: 154,035,925 (GRCm39)	A22V	probably benign	Het
Med27	T	A	2: 29,236,882 (GRCm39)	V9E	possibly damaging	Het
Mmp7	C	A	9: 7,692,219 (GRCm39)	S31R	probably benign	Het
Mtcl1	T	G	17: 66,650,829 (GRCm39)	E1545D	probably benign	Het
Muc16	A	G	9: 18,409,126 (GRCm39)	Y187H	probably damaging	Het
Myo3a	G	T	2: 22,404,679 (GRCm39)	K678N	possibly damaging	Het
Nsmce1	T	C	7: 125,085,645 (GRCm39)	M15V	probably benign	Het
Nxpe3	A	T	16: 55,670,078 (GRCm39)	N342K	probably damaging	Het
Or7g25	A	G	9: 19,160,495 (GRCm39)	S67P	probably damaging	Het
Or8g2	T	A	9: 39,821,756 (GRCm39)	I219N	probably damaging	Het
Pcdhb9	A	G	18: 37,534,663 (GRCm39)	N219S	probably benign	Het
Pck2	T	A	14: 55,781,449 (GRCm39)	V190E	probably damaging	Het
Pde4b	G	A	4: 102,456,840 (GRCm39)	A429T	probably damaging	Het
Phf1	T	C	17: 27,153,429 (GRCm39)	V54A	probably damaging	Het
Pla2r1	T	C	2: 60,353,127 (GRCm39)	E278G	probably damaging	Het
Ptges3	G	T	10: 127,908,016 (GRCm39)	R122L	probably benign	Het
Rnpepl1	C	T	1: 92,844,881 (GRCm39)	T391I	probably damaging	Het
Rps6kb1	G	A	11: 86,397,633 (GRCm39)	A404V	probably benign	Het
Rrm2b	T	C	15: 37,945,391 (GRCm39)		probably null	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Skint9	T	G	4: 112,248,148 (GRCm39)	I199L	probably benign	Het
Slc9b2	G	T	3: 135,042,290 (GRCm39)	R523L	probably benign	Het
Slco1c1	T	A	6: 141,477,174 (GRCm39)		probably null	Het
Stox2	T	C	8: 47,645,865 (GRCm39)	T532A	probably damaging	Het
Tbcel	A	G	9: 42,327,248 (GRCm39)	L385P	probably damaging	Het
Tle5	A	G	10: 81,401,474 (GRCm39)	N181D	probably benign	Het
Tmem268	G	A	4: 63,496,149 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top3a	G	A	11: 60,650,182 (GRCm39)	T122M	probably damaging	Het
Trav7n-4	G	A	14: 53,329,088 (GRCm39)	V33I	probably benign	Het
Ttn	T	G	2: 76,539,551 (GRCm39)	E26151D	possibly damaging	Het
Ttn	C	T	2: 76,687,228 (GRCm39)		probably benign	Het
Tyk2	A	G	9: 21,035,328 (GRCm39)	C195R	possibly damaging	Het
Ugt2b38	T	C	5: 87,558,078 (GRCm39)	K528E	probably damaging	Het
Usp28	T	A	9: 48,937,125 (GRCm39)	D483E	probably benign	Het
Vldlr	A	G	19: 27,220,554 (GRCm39)	D598G	probably damaging	Het
Vmn1r51	T	G	6: 90,106,498 (GRCm39)	I138S	probably damaging	Het
Vps13b	G	A	15: 35,869,541 (GRCm39)	A2682T	probably damaging	Het
Wac	T	A	18: 7,917,568 (GRCm39)	V346E	probably damaging	Het
Zdbf2	T	C	1: 63,347,579 (GRCm39)	V1986A	possibly damaging	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
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'- CTCCGGTCAAGAACTGTAGATAC -3'
(R):5'- AGCTGCACATGGAAGGGTTC -3'

Sequencing Primer
(F):5'- ACAGATCCACATTCTAACCTTTCC -3'
(R):5'- GTTCCGAAGCCTCAAGGAG -3'

Posted On

2015-02-18