Incidental Mutation 'R6540:Lin28a'
| ID |
520674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin28a
|
| Ensembl Gene |
ENSMUSG00000050966 |
| Gene Name |
lin-28 homolog A |
| Synonyms |
Tex17, Lin28, Lin-28, Lin28a |
| MMRRC Submission |
044666-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6540 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133730641-133746152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 133745372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 74
(V74M)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000051674
AA Change: V74M
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966
AA Change: V74M
| 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 |
noncoding transcript
Transcript: ENSMUST00000137962
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176897
AA Change: V24M
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135736
Gene: ENSMUSG00000050966
AA Change: V24M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSD
|
1 |
62 |
5.8e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,660,779 (GRCm39) |
Y143H |
possibly damaging |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,679,567 (GRCm39) |
V849A |
possibly damaging |
Het |
| Ash1l |
A |
T |
3: 88,892,368 (GRCm39) |
T1416S |
probably damaging |
Het |
| Cdc5l |
A |
G |
17: 45,737,570 (GRCm39) |
W63R |
probably damaging |
Het |
| Cep95 |
T |
A |
11: 106,692,328 (GRCm39) |
D169E |
probably damaging |
Het |
| Col14a1 |
A |
C |
15: 55,235,977 (GRCm39) |
N297T |
unknown |
Het |
| Cp |
T |
C |
3: 20,018,693 (GRCm39) |
|
probably null |
Het |
| Fbxl19 |
G |
T |
7: 127,347,525 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
C |
6: 29,446,376 (GRCm39) |
V931A |
possibly damaging |
Het |
| Foxj2 |
A |
G |
6: 122,810,202 (GRCm39) |
H187R |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,441,634 (GRCm39) |
V1199I |
probably benign |
Het |
| Ighv7-4 |
A |
G |
12: 114,186,470 (GRCm39) |
Y101H |
possibly damaging |
Het |
| Igkv10-94 |
T |
A |
6: 68,681,507 (GRCm39) |
Y111F |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,592,335 (GRCm39) |
N53S |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,866,541 (GRCm39) |
T701P |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,515,801 (GRCm39) |
K309* |
probably null |
Het |
| Nlrp9a |
T |
C |
7: 26,256,817 (GRCm39) |
V145A |
possibly damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,571 (GRCm39) |
I272V |
probably benign |
Het |
| Ovgp1 |
A |
T |
3: 105,893,897 (GRCm39) |
K557* |
probably null |
Het |
| Pde4b |
T |
C |
4: 102,459,073 (GRCm39) |
L546P |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,794,951 (GRCm39) |
V2213M |
probably damaging |
Het |
| Plekhh1 |
A |
G |
12: 79,111,263 (GRCm39) |
I542V |
probably benign |
Het |
| Ppan |
A |
G |
9: 20,802,506 (GRCm39) |
|
probably null |
Het |
| Prdm15 |
A |
T |
16: 97,637,005 (GRCm39) |
V104E |
probably benign |
Het |
| Semp2l2a |
A |
C |
8: 13,887,573 (GRCm39) |
S173A |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,123,351 (GRCm39) |
H1050R |
probably benign |
Het |
| Slc35d3 |
A |
G |
10: 19,725,086 (GRCm39) |
F257L |
possibly damaging |
Het |
| Tfip11 |
A |
G |
5: 112,482,263 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
A |
G |
5: 128,345,596 (GRCm39) |
S309P |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,234,400 (GRCm39) |
I48V |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,056 (GRCm39) |
L174* |
probably null |
Het |
| Zfp729a |
A |
G |
13: 67,767,767 (GRCm39) |
C821R |
possibly damaging |
Het |
| Zfp970 |
C |
A |
2: 177,167,388 (GRCm39) |
H321N |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,804,055 (GRCm39) |
L2599P |
probably 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 |
|
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 |
|
|
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'- ACTACAAACTCAAAACTGGGGTG -3'
(R):5'- CTTCTTACCAGCTGCTTGGTAG -3'
Sequencing Primer
(F):5'- GTCCCGAAAAATATGGGGACGC -3'
(R):5'- TATCTCCAGGTGGCTGCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation