Incidental Mutation 'R4304:Lsm14a'
| ID |
500523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lsm14a
|
| Ensembl Gene |
ENSMUSG00000066568 |
| Gene Name |
LSM14A mRNA processing body assembly factor |
| Synonyms |
2700023B17Rik, Tral |
| MMRRC Submission |
040865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.854)
|
| Stock # |
R4304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
34043569-34089134 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 34056858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085585]
[ENSMUST00000133046]
[ENSMUST00000133046]
[ENSMUST00000155256]
[ENSMUST00000206388]
|
| AlphaFold |
Q8K2F8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085585
|
| SMART Domains |
Protein: ENSMUSP00000082723
Gene: ENSMUSG00000066568
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119461
Gene: ENSMUSG00000066568
| 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: ENSMUST00000133046
|
| SMART Domains |
Protein: ENSMUSP00000119461
Gene: ENSMUSG00000066568
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118766
Gene: ENSMUSG00000066568
| 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 |
probably benign
Transcript: ENSMUST00000205519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206830
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,391,545 (GRCm39) |
M323K |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,006,489 (GRCm39) |
S636P |
probably benign |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,405,643 (GRCm39) |
Q1630* |
probably null |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Cfap47 |
C |
G |
X: 78,541,635 (GRCm39) |
K469N |
probably damaging |
Het |
| Csgalnact1 |
A |
T |
8: 68,825,294 (GRCm39) |
V400D |
possibly damaging |
Het |
| Fam3d |
G |
A |
14: 8,349,324 (GRCm38) |
P209S |
probably damaging |
Het |
| Fig4 |
T |
A |
10: 41,132,423 (GRCm39) |
D461V |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gcfc2 |
G |
A |
6: 81,919,988 (GRCm39) |
R397Q |
probably damaging |
Het |
| Gm20939 |
A |
C |
17: 95,184,709 (GRCm39) |
Q452H |
probably benign |
Het |
| Gm5592 |
A |
T |
7: 40,935,686 (GRCm39) |
M63L |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,583,295 (GRCm39) |
M252T |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,343,584 (GRCm39) |
A470T |
possibly damaging |
Het |
| Or4a68 |
A |
T |
2: 89,270,542 (GRCm39) |
V27D |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,227,736 (GRCm39) |
Q261* |
probably null |
Het |
| Rptn |
C |
A |
3: 93,304,238 (GRCm39) |
H524N |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,530,058 (GRCm39) |
M240K |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,738,741 (GRCm39) |
I3503V |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,172,941 (GRCm39) |
K625E |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,560,634 (GRCm39) |
V663A |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tpp1 |
T |
A |
7: 105,399,516 (GRCm39) |
D84V |
possibly damaging |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,040 (GRCm39) |
R125* |
probably null |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Wfdc15b |
A |
C |
2: 164,057,388 (GRCm39) |
M1R |
probably null |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
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 |
|
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 |
|
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'- ATATGGCATTCAGATCCAGGTAGC -3'
(R):5'- GCTAGCAGGTTGAAGCTGAAC -3'
Sequencing Primer
(F):5'- CATTCAGATCCAGGTAGCTGCTG -3'
(R):5'- CAAATTTGATTCTAAGTGGTGTGTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation