Incidental Mutation 'R3710:Lsm14a'
ID |
259543 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lsm14a
|
Ensembl Gene |
ENSMUSG00000066568 |
Gene Name |
LSM14A mRNA processing body assembly factor |
Synonyms |
2700023B17Rik, Tral |
MMRRC Submission |
040703-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.854)
|
Stock # |
R3710 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
34043569-34089134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34053204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 283
(I283F)
|
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: I283F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000082723 Gene: ENSMUSG00000066568 AA Change: I283F
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 benign
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 benign
Transcript: ENSMUST00000155256
AA Change: I224F
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000118766 Gene: ENSMUSG00000066568 AA Change: I224F
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
|
Meta Mutation Damage Score |
0.0606 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (55/56) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
Agbl2 |
G |
A |
2: 90,636,152 (GRCm39) |
D563N |
probably benign |
Het |
Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
Ank1 |
A |
G |
8: 23,577,095 (GRCm39) |
D200G |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,470,808 (GRCm39) |
|
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
C |
A |
19: 57,645,546 (GRCm39) |
H469N |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bud23 |
A |
C |
5: 135,085,204 (GRCm39) |
S41A |
possibly damaging |
Het |
Car12 |
G |
T |
9: 66,658,260 (GRCm39) |
A21S |
probably damaging |
Het |
Cav3 |
T |
A |
6: 112,436,774 (GRCm39) |
M1K |
probably null |
Het |
Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
Col2a1 |
A |
G |
15: 97,888,788 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Csn3 |
C |
A |
5: 88,077,882 (GRCm39) |
N129K |
possibly damaging |
Het |
Diaph1 |
C |
A |
18: 37,978,537 (GRCm39) |
G1209W |
probably damaging |
Het |
Dsg2 |
A |
G |
18: 20,735,174 (GRCm39) |
T1051A |
probably damaging |
Het |
Gm1965 |
A |
T |
6: 89,122,407 (GRCm39) |
|
noncoding transcript |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Gsto1 |
T |
C |
19: 47,847,971 (GRCm39) |
|
probably null |
Het |
Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
Marchf6 |
A |
T |
15: 31,509,972 (GRCm39) |
|
probably benign |
Het |
Mtmr10 |
C |
A |
7: 63,976,433 (GRCm39) |
A410D |
possibly damaging |
Het |
Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
Nim1k |
A |
G |
13: 120,173,635 (GRCm39) |
S420P |
probably benign |
Het |
Nlrp4c |
T |
A |
7: 6,068,627 (GRCm39) |
V176E |
probably damaging |
Het |
Ogfod1 |
A |
T |
8: 94,784,380 (GRCm39) |
K313* |
probably null |
Het |
Or5an1 |
T |
G |
19: 12,260,450 (GRCm39) |
F13V |
probably damaging |
Het |
Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
Otof |
A |
T |
5: 30,542,610 (GRCm39) |
M661K |
probably benign |
Het |
Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
Rimbp2 |
G |
A |
5: 128,866,795 (GRCm39) |
T508I |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,037,991 (GRCm39) |
C393* |
probably null |
Het |
Rps17 |
T |
A |
7: 80,994,672 (GRCm39) |
T30S |
probably benign |
Het |
Rps3 |
T |
C |
7: 99,128,626 (GRCm39) |
K197R |
probably benign |
Het |
Samd11 |
G |
A |
4: 156,334,952 (GRCm39) |
L109F |
probably damaging |
Het |
Smarca2 |
T |
G |
19: 26,646,290 (GRCm39) |
|
probably benign |
Het |
Sprr2g |
C |
A |
3: 92,282,036 (GRCm39) |
P30Q |
unknown |
Het |
Spz1 |
G |
A |
13: 92,711,631 (GRCm39) |
Q282* |
probably null |
Het |
Syne3 |
A |
G |
12: 104,909,697 (GRCm39) |
L713P |
possibly damaging |
Het |
Tgm1 |
C |
A |
14: 55,950,052 (GRCm39) |
|
probably benign |
Het |
Tomm22 |
T |
C |
15: 79,555,419 (GRCm39) |
F55L |
probably damaging |
Het |
Tph2 |
T |
A |
10: 115,009,963 (GRCm39) |
Y199F |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,682,932 (GRCm39) |
F757L |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,055,601 (GRCm39) |
T846S |
probably benign |
Het |
Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
Zc3hav1 |
A |
C |
6: 38,309,097 (GRCm39) |
M575R |
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 |
|
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 |
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'- TTCACTGTTCTGAGTGTCGAC -3'
(R):5'- CTCTCGAGTGCTGGGATTAG -3'
Sequencing Primer
(F):5'- ACATGCAAGTTAAGACTTTACACATC -3'
(R):5'- GGATTAGAGGCGTGCGC -3'
|
Posted On |
2015-01-23 |