Incidental Mutation 'IGL02940:Lsm14a'
| ID |
364476 |
| 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 # |
IGL02940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
34043569-34089134 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 34070596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 100
(S100*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085585]
[ENSMUST00000133046]
[ENSMUST00000155256]
[ENSMUST00000206388]
|
| AlphaFold |
Q8K2F8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085585
AA Change: S100*
|
| SMART Domains |
Protein: ENSMUSP00000082723
Gene: ENSMUSG00000066568
AA Change: S100*
| 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 |
probably null
Transcript: ENSMUST00000133046
AA Change: S64*
|
| SMART Domains |
Protein: ENSMUSP00000119461
Gene: ENSMUSG00000066568
AA Change: S64*
| Domain | Start | End | E-Value | Type |
|---|
|
LSM14
|
1 |
62 |
1.33e-12 |
SMART |
|
low complexity region
|
93 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155256
AA Change: S100*
|
| SMART Domains |
Protein: ENSMUSP00000118766
Gene: ENSMUSG00000066568
AA Change: S100*
| 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 |
probably benign
Transcript: ENSMUST00000205519
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
T |
A |
8: 95,760,084 (GRCm39) |
V101D |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,380,738 (GRCm39) |
D1765G |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,496,808 (GRCm39) |
K450R |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,885,636 (GRCm39) |
|
probably null |
Het |
| Dbh |
A |
G |
2: 27,058,321 (GRCm39) |
Y163C |
probably damaging |
Het |
| Drc7 |
T |
A |
8: 95,800,925 (GRCm39) |
I649N |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,328,668 (GRCm39) |
A7097T |
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,869,537 (GRCm39) |
H52R |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,709 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
C |
T |
11: 105,231,997 (GRCm39) |
R850C |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,373,364 (GRCm39) |
D763G |
probably damaging |
Het |
| Ncan |
C |
T |
8: 70,562,735 (GRCm39) |
V508I |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,073 (GRCm39) |
L213Q |
probably damaging |
Het |
| Pgls |
C |
T |
8: 72,046,741 (GRCm39) |
S18L |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,467,000 (GRCm39) |
T98A |
probably damaging |
Het |
| Ppp1r36dn |
A |
C |
12: 76,497,944 (GRCm39) |
|
noncoding transcript |
Het |
| Prdm13 |
T |
A |
4: 21,683,421 (GRCm39) |
K180* |
probably null |
Het |
| Rai1 |
T |
C |
11: 60,077,844 (GRCm39) |
V636A |
probably benign |
Het |
| Setd5 |
T |
C |
6: 113,091,899 (GRCm39) |
F240S |
possibly damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,187,731 (GRCm39) |
L536P |
probably damaging |
Het |
| Stk39 |
C |
T |
2: 68,051,243 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,932,471 (GRCm39) |
T1707A |
probably damaging |
Het |
| Tlr2 |
A |
T |
3: 83,743,781 (GRCm39) |
D767E |
probably benign |
Het |
| Tlr7 |
C |
T |
X: 166,090,830 (GRCm39) |
V219I |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,476,818 (GRCm39) |
S815P |
probably damaging |
Het |
| Trav12-1 |
T |
A |
14: 53,776,017 (GRCm39) |
W57R |
probably damaging |
Het |
| Uxt |
T |
C |
X: 20,826,025 (GRCm39) |
E66G |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,475,369 (GRCm39) |
M553K |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,951 (GRCm39) |
W685R |
probably benign |
Het |
| Vstm5 |
A |
C |
9: 15,168,962 (GRCm39) |
D144A |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,575 (GRCm39) |
H513R |
probably damaging |
Het |
| Zfp830 |
T |
A |
11: 82,656,295 (GRCm39) |
|
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,261,492 (GRCm39) |
|
probably null |
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 |
|
|
IGL02259:Lsm14a
|
APN |
7 |
34,070,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation