Mutagenetix > Incidental Mutation

Incidental Mutation 'R7972:Lin28a'

650650

Institutional Source

Beutler Lab

Gene Symbol

Lin28a

Ensembl Gene

ENSMUSG00000050966

Gene Name

lin-28 homolog A

Synonyms

Tex17, Lin28, Lin-28, Lin28a

MMRRC Submission

046015-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133730641-133746152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133733574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 158 (P158S)

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

probably damaging
Transcript: ENSMUST00000051674
AA Change: P158S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966
AA Change: P158S

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 damaging
Transcript: ENSMUST00000176113
AA Change: P78S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135254
Gene: ENSMUSG00000050966
AA Change: P78S

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 damaging
Transcript: ENSMUST00000176292
AA Change: P78S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135608
Gene: ENSMUSG00000050966
AA Change: P78S

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

Meta Mutation Damage Score

0.1100

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (48/49)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,287 (GRCm39)	V384E	probably damaging	Het
Acacb	C	T	5: 114,364,918 (GRCm39)	R1533*	probably null	Het
Alox12	T	A	11: 70,133,513 (GRCm39)	M604L	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Brdt	A	T	5: 107,496,415 (GRCm39)	I176F	possibly damaging	Het
Cdk5	G	T	5: 24,624,656 (GRCm39)	T245K	probably benign	Het
Chd9	A	T	8: 91,732,395 (GRCm39)	R1304S	unknown	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cyp2j11	T	A	4: 96,185,871 (GRCm39)	E438V	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnah10	T	C	5: 124,803,949 (GRCm39)	V92A	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fam184a	A	T	10: 53,514,355 (GRCm39)	L1022Q	probably damaging	Het
Foxd4	T	C	19: 24,877,594 (GRCm39)	H202R	probably damaging	Het
Fry	T	C	5: 150,233,861 (GRCm39)	V16A	probably benign	Het
Gstcd	A	T	3: 132,777,894 (GRCm39)	F306I	probably benign	Het
H2bc13	A	G	13: 21,899,977 (GRCm39)	S113P	possibly damaging	Het
Hivep3	T	C	4: 119,954,711 (GRCm39)	V1009A	possibly damaging	Het
Hoxd12	G	T	2: 74,506,269 (GRCm39)	R227L	probably damaging	Het
Ifi208	T	A	1: 173,506,556 (GRCm39)	M113K	possibly damaging	Het
Ift70a1	A	T	2: 75,810,802 (GRCm39)	M427K	probably damaging	Het
Kcnh4	T	G	11: 100,643,278 (GRCm39)	T330P	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Muc16	C	A	9: 18,557,060 (GRCm39)	E3078*	probably null	Het
Naaladl1	A	G	19: 6,156,274 (GRCm39)	N120S	probably damaging	Het
Nol10	G	A	12: 17,402,648 (GRCm39)	R40H	probably benign	Het
Ntng1	G	A	3: 110,042,802 (GRCm39)	S8L	probably benign	Het
Or4a71	T	G	2: 89,357,948 (GRCm39)	I269L	probably benign	Het
Or4c107	T	A	2: 88,789,177 (GRCm39)	Y122*	probably null	Het
Pacsin1	T	A	17: 27,927,613 (GRCm39)	F319I	unknown	Het
Pla2g4d	G	A	2: 120,109,413 (GRCm39)	T212I	probably benign	Het
Ppp4r1	T	A	17: 66,140,093 (GRCm39)	C664S	possibly damaging	Het
Prodh2	T	C	7: 30,210,580 (GRCm39)	I377T	probably damaging	Het
Prss57	A	T	10: 79,619,230 (GRCm39)	L243H	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Ros1	G	A	10: 52,030,926 (GRCm39)	R581*	probably null	Het
Rps6kc1	C	T	1: 190,531,321 (GRCm39)	G894S	probably benign	Het
Sirt7	A	G	11: 120,510,016 (GRCm39)	S183P	unknown	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Styxl2	T	A	1: 165,926,708 (GRCm39)	E968V	probably damaging	Het
Tbc1d8	A	G	1: 39,431,250 (GRCm39)	F374S	probably damaging	Het
Tdrd1	T	A	19: 56,837,134 (GRCm39)	D489E	probably damaging	Het
Tiprl	T	A	1: 165,064,543 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,085,539 (GRCm39)	*173Q	probably null	Het
Trim17	A	G	11: 58,859,394 (GRCm39)	I203V	probably benign	Het
Trim43b	T	A	9: 88,973,361 (GRCm39)	H124L	probably damaging	Het
Triobp	T	C	15: 78,852,186 (GRCm39)	I780T	probably damaging	Het
Tyrobp	G	A	7: 30,114,063 (GRCm39)	G101R		Het
Vmn1r181	A	T	7: 23,683,871 (GRCm39)	H112L	probably benign	Het
Wdr19	A	G	5: 65,381,193 (GRCm39)	N406D	probably damaging	Het
Zc3h12a	T	C	4: 125,013,728 (GRCm39)	K379E	probably benign	Het
Zcwpw1	T	C	5: 137,799,323 (GRCm39)	I230T	probably benign	Het
Zfhx4	A	G	3: 5,477,533 (GRCm39)	T3383A	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
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
R8072:Lin28a	UTSW	4	133,745,453 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TCCACTCTGCAGATTGATGCC -3'
(R):5'- TTCAAAAGCAGGAAATAGGTCACC -3'

Sequencing Primer
(F):5'- GCAGATTGATGCCTCTTTCCTTAAAC -3'
(R):5'- TAGGTCACCAGGGAGGCG -3'

Posted On

2020-09-15