Incidental Mutation 'R2331:Lsm14a'
| ID |
245873 |
| Institutional Source |
Beutler Lab
|
| 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: 0.834)
|
| Stock # |
R2331 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
34043569-34089134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34056915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 241
(V241A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085585]
[ENSMUST00000133046]
[ENSMUST00000155256]
[ENSMUST00000206388]
|
| AlphaFold |
Q8K2F8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085585
AA Change: V241A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082723
Gene: ENSMUSG00000066568
AA Change: V241A
| 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: V146A
|
| SMART Domains |
Protein: ENSMUSP00000119461
Gene: ENSMUSG00000066568
AA Change: V146A
| 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: V182A
|
| SMART Domains |
Protein: ENSMUSP00000118766
Gene: ENSMUSG00000066568
AA Change: V182A
| 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 |
noncoding transcript
Transcript: ENSMUST00000205455
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205519
AA Change: V131A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206830
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
C |
T |
1: 38,243,971 (GRCm39) |
|
probably null |
Het |
| Cadps |
A |
G |
14: 12,603,692 (GRCm38) |
I376T |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gm10295 |
A |
C |
7: 71,000,437 (GRCm39) |
S48A |
unknown |
Het |
| Gstcd |
A |
G |
3: 132,704,641 (GRCm39) |
C538R |
probably damaging |
Het |
| Hcn3 |
A |
T |
3: 89,055,397 (GRCm39) |
S617T |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,458,089 (GRCm39) |
I752V |
probably benign |
Het |
| Itgb7 |
G |
T |
15: 102,131,983 (GRCm39) |
T200K |
probably damaging |
Het |
| Lcn11 |
C |
A |
2: 25,670,188 (GRCm39) |
T177K |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,662,543 (GRCm39) |
K1075E |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,265 (GRCm39) |
I48V |
probably benign |
Het |
| Or4d10c |
C |
A |
19: 12,065,522 (GRCm39) |
L211F |
probably benign |
Het |
| P4hb |
T |
C |
11: 120,459,106 (GRCm39) |
N129S |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,214,005 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
T |
C |
3: 136,503,580 (GRCm39) |
M51T |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,499,983 (GRCm39) |
V353A |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,186,928 (GRCm39) |
F16L |
probably benign |
Het |
| Sparcl1 |
A |
G |
5: 104,233,660 (GRCm39) |
L563P |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,858,224 (GRCm39) |
|
probably null |
Het |
| Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
| Trpv5 |
A |
G |
6: 41,636,902 (GRCm39) |
S399P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,264,011 (GRCm39) |
F1006L |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Wdr72 |
A |
G |
9: 74,055,608 (GRCm39) |
Y279C |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCATTCAGATCCAGGTAGC -3'
(R):5'- TGCTAGCAGGTTGAAGCTG -3'
Sequencing Primer
(F):5'- CATTCAGATCCAGGTAGCTGCTG -3'
(R):5'- GGATATTGCAGGTGTTCTCAT -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation