Incidental Mutation 'IGL02259:Lsm14a'
| ID |
286665 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lsm14a
|
| Ensembl Gene |
ENSMUSG00000066568 |
| Gene Name |
LSM14A mRNA processing body assembly factor |
| Synonyms |
2700023B17Rik, Tral |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.854)
|
| Stock # |
IGL02259
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
34043569-34089134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34070558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 113
(P113T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085585]
[ENSMUST00000133046]
[ENSMUST00000155256]
[ENSMUST00000206388]
|
| AlphaFold |
Q8K2F8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085585
AA Change: P113T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082723
Gene: ENSMUSG00000066568
AA Change: P113T
| Domain | Start | End | E-Value | Type |
|---|
|
LSM14
|
1 |
98 |
1.15e-57 |
SMART |
|
low complexity region
|
129 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
287 |
N/A |
INTRINSIC |
|
FDF
|
289 |
399 |
6.14e-35 |
SMART |
|
low complexity region
|
403 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
450 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133046
AA Change: P77T
|
| SMART Domains |
Protein: ENSMUSP00000119461
Gene: ENSMUSG00000066568
AA Change: P77T
| Domain | Start | End | E-Value | Type |
|---|
|
LSM14
|
1 |
62 |
1.33e-12 |
SMART |
|
low complexity region
|
93 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155256
AA Change: P113T
|
| SMART Domains |
Protein: ENSMUSP00000118766
Gene: ENSMUSG00000066568
AA Change: P113T
| Domain | Start | End | E-Value | Type |
|---|
|
LSM14
|
1 |
98 |
1.15e-57 |
SMART |
|
low complexity region
|
129 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
228 |
N/A |
INTRINSIC |
|
Pfam:FDF
|
230 |
287 |
7.5e-13 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205519
AA Change: P3T
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206388
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
A |
G |
14: 44,239,363 (GRCm39) |
F122L |
probably benign |
Het |
| Atm |
A |
T |
9: 53,429,794 (GRCm39) |
|
probably benign |
Het |
| Ccsap |
G |
A |
8: 124,572,166 (GRCm39) |
T112M |
possibly damaging |
Het |
| Cd63 |
T |
C |
10: 128,747,843 (GRCm39) |
S113P |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,341,857 (GRCm39) |
F183L |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,355,687 (GRCm39) |
S321C |
probably damaging |
Het |
| Cyp2ab1 |
G |
A |
16: 20,131,897 (GRCm39) |
T281I |
probably damaging |
Het |
| Cyp2c40 |
A |
C |
19: 39,792,246 (GRCm39) |
C233G |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,978,588 (GRCm39) |
I2955T |
probably benign |
Het |
| Drc7 |
A |
G |
8: 95,782,733 (GRCm39) |
T33A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,339,559 (GRCm39) |
Y481N |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,391,398 (GRCm39) |
E13V |
probably benign |
Het |
| Ifna4 |
A |
G |
4: 88,760,293 (GRCm39) |
K66E |
probably damaging |
Het |
| Kif14 |
T |
A |
1: 136,427,840 (GRCm39) |
M1103K |
probably benign |
Het |
| Kif6 |
A |
T |
17: 50,202,919 (GRCm39) |
|
probably benign |
Het |
| Med12l |
T |
A |
3: 59,153,264 (GRCm39) |
N1096K |
probably damaging |
Het |
| Med13 |
C |
A |
11: 86,248,327 (GRCm39) |
G9W |
possibly damaging |
Het |
| Minar1 |
A |
T |
9: 89,484,412 (GRCm39) |
H328Q |
possibly damaging |
Het |
| Nbr1 |
G |
A |
11: 101,468,816 (GRCm39) |
A639T |
probably damaging |
Het |
| Nid2 |
G |
T |
14: 19,818,277 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,636,955 (GRCm39) |
D22G |
possibly damaging |
Het |
| Or13p10 |
G |
A |
4: 118,523,634 (GRCm39) |
V307I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Phkg2 |
A |
G |
7: 127,181,458 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,166 (GRCm39) |
|
probably null |
Het |
| Plch1 |
C |
T |
3: 63,630,170 (GRCm39) |
|
probably null |
Het |
| Prb1b |
A |
T |
6: 132,289,637 (GRCm39) |
D62E |
unknown |
Het |
| Prl8a1 |
A |
C |
13: 27,766,089 (GRCm39) |
V2G |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,069,297 (GRCm39) |
S482P |
possibly damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,703,166 (GRCm39) |
C760R |
probably damaging |
Het |
| Tgs1 |
A |
G |
4: 3,604,743 (GRCm39) |
N722D |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,898 (GRCm39) |
D28G |
probably benign |
Het |
| Zfp457 |
C |
T |
13: 67,444,471 (GRCm39) |
A11T |
possibly damaging |
Het |
| Zfp879 |
T |
C |
11: 50,729,255 (GRCm39) |
S48G |
probably benign |
Het |
|
| Other mutations in Lsm14a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01564:Lsm14a
|
APN |
7 |
34,088,780 (GRCm39) |
intron |
probably benign |
|
|
IGL02940:Lsm14a
|
APN |
7 |
34,070,596 (GRCm39) |
nonsense |
probably null |
|
|
baluchistan
|
UTSW |
7 |
34,052,826 (GRCm39) |
nonsense |
probably null |
|
|
beast
|
UTSW |
7 |
34,074,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Lsm14a
|
UTSW |
7 |
34,065,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Lsm14a
|
UTSW |
7 |
34,065,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Lsm14a
|
UTSW |
7 |
34,070,470 (GRCm39) |
splice site |
probably benign |
|
|
R1344:Lsm14a
|
UTSW |
7 |
34,052,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:Lsm14a
|
UTSW |
7 |
34,050,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1667:Lsm14a
|
UTSW |
7 |
34,065,079 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2135:Lsm14a
|
UTSW |
7 |
34,070,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2331:Lsm14a
|
UTSW |
7 |
34,056,915 (GRCm39) |
missense |
probably benign |
|
|
R3709:Lsm14a
|
UTSW |
7 |
34,053,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3710:Lsm14a
|
UTSW |
7 |
34,053,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4304:Lsm14a
|
UTSW |
7 |
34,056,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4998:Lsm14a
|
UTSW |
7 |
34,074,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Lsm14a
|
UTSW |
7 |
34,053,154 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5383:Lsm14a
|
UTSW |
7 |
34,088,789 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5639:Lsm14a
|
UTSW |
7 |
34,052,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Lsm14a
|
UTSW |
7 |
34,056,906 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7443:Lsm14a
|
UTSW |
7 |
34,053,263 (GRCm39) |
missense |
probably benign |
|
|
R7559:Lsm14a
|
UTSW |
7 |
34,052,826 (GRCm39) |
nonsense |
probably null |
|
|
R7812:Lsm14a
|
UTSW |
7 |
34,088,301 (GRCm39) |
intron |
probably benign |
|
|
R8115:Lsm14a
|
UTSW |
7 |
34,074,662 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9273:Lsm14a
|
UTSW |
7 |
34,088,225 (GRCm39) |
intron |
probably benign |
|
|
R9729:Lsm14a
|
UTSW |
7 |
34,088,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation