Incidental Mutation 'IGL01725:Lin28a'
| ID |
105251 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lin28a
|
| Ensembl Gene |
ENSMUSG00000050966 |
| Gene Name |
lin-28 homolog A |
| Synonyms |
Tex17, Lin28, Lin-28, Lin28a |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133730641-133746152 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 133735241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 52
(R52*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051674]
[ENSMUST00000176113]
[ENSMUST00000176292]
[ENSMUST00000176897]
|
| AlphaFold |
Q8K3Y3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051674
AA Change: R132*
|
| SMART Domains |
Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966
AA Change: R132*
| 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 null
Transcript: ENSMUST00000176113
AA Change: R52*
|
| SMART Domains |
Protein: ENSMUSP00000135254
Gene: ENSMUSG00000050966
AA Change: R52*
| 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 null
Transcript: ENSMUST00000176292
AA Change: R52*
|
| SMART Domains |
Protein: ENSMUSP00000135608
Gene: ENSMUSG00000050966
AA Change: R52*
| 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 |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,767 (GRCm39) |
I297F |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,738,241 (GRCm39) |
L1170I |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,781,206 (GRCm39) |
D2086G |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,667,897 (GRCm39) |
V368D |
probably damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,364,745 (GRCm39) |
T334A |
possibly damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,618,348 (GRCm39) |
R205G |
possibly damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,819 (GRCm39) |
M515V |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,659,747 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,065,245 (GRCm39) |
T145A |
probably benign |
Het |
| Kntc1 |
G |
A |
5: 123,902,253 (GRCm39) |
V299I |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,887,020 (GRCm39) |
|
probably null |
Het |
| Nme4 |
G |
A |
17: 26,311,040 (GRCm39) |
A175V |
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,265,982 (GRCm39) |
M136L |
probably benign |
Het |
| Or51ah3 |
T |
A |
7: 103,210,282 (GRCm39) |
Y199* |
probably null |
Het |
| Pi16 |
T |
A |
17: 29,545,294 (GRCm39) |
S186T |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,914 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,005,218 (GRCm39) |
I222L |
probably benign |
Het |
| Scap |
T |
A |
9: 110,210,622 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
A |
C |
11: 51,614,405 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,857,660 (GRCm39) |
E1176G |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,645 (GRCm39) |
D255E |
probably benign |
Het |
| Slc16a9 |
T |
C |
10: 70,119,815 (GRCm39) |
M486T |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,726,324 (GRCm39) |
F155S |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,017,508 (GRCm39) |
V435A |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,693,155 (GRCm39) |
R324G |
probably damaging |
Het |
| Tas2r120 |
C |
T |
6: 132,634,052 (GRCm39) |
R45* |
probably null |
Het |
| Tfcp2l1 |
T |
C |
1: 118,596,366 (GRCm39) |
V367A |
possibly damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,605,619 (GRCm39) |
D177V |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,594 (GRCm39) |
S628P |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation