Incidental Mutation 'R3709:Lsm14a'
| ID |
259487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lsm14a
|
| Ensembl Gene |
ENSMUSG00000066568 |
| Gene Name |
LSM14A mRNA processing body assembly factor |
| Synonyms |
2700023B17Rik, Tral |
| MMRRC Submission |
040702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.834)
|
| Stock # |
R3709 (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: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
98% (50/51) |
| 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 |
|---|
| 9930111J21Rik2 |
T |
G |
11: 48,910,480 (GRCm39) |
D651A |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,788,738 (GRCm39) |
N1039S |
probably benign |
Het |
| Abcc2 |
G |
T |
19: 43,786,885 (GRCm39) |
V169F |
possibly damaging |
Het |
| Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
| Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
| Armc8 |
A |
G |
9: 99,402,550 (GRCm39) |
I333T |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Ccdc92b |
C |
A |
11: 74,528,933 (GRCm39) |
R146S |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,381,009 (GRCm39) |
S2804P |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
| Cldn19 |
T |
C |
4: 119,114,094 (GRCm39) |
S79P |
possibly damaging |
Het |
| Ctdp1 |
G |
A |
18: 80,493,428 (GRCm39) |
Q356* |
probably null |
Het |
| Cyp2c69 |
A |
G |
19: 39,839,667 (GRCm39) |
|
probably benign |
Het |
| Dhrs3 |
T |
C |
4: 144,620,281 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,223,815 (GRCm39) |
W1054R |
probably damaging |
Het |
| Gfral |
G |
A |
9: 76,100,725 (GRCm39) |
R238* |
probably null |
Het |
| Gm10322 |
C |
A |
10: 59,451,941 (GRCm39) |
D19E |
possibly damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
C |
9: 54,493,810 (GRCm39) |
S4P |
possibly damaging |
Het |
| Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
| Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
G |
A |
7: 80,366,835 (GRCm39) |
T1595I |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,212,400 (GRCm39) |
|
probably null |
Het |
| Klrb1a |
T |
C |
6: 128,595,466 (GRCm39) |
D96G |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
| Lrp4 |
A |
C |
2: 91,320,811 (GRCm39) |
T975P |
possibly damaging |
Het |
| Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,455,015 (GRCm39) |
Q1302* |
probably null |
Het |
| Mctp1 |
T |
C |
13: 76,972,999 (GRCm39) |
|
probably null |
Het |
| Mlxip |
T |
C |
5: 123,585,537 (GRCm39) |
V642A |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
| Naa35 |
T |
A |
13: 59,765,846 (GRCm39) |
|
probably benign |
Het |
| Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,963,645 (GRCm39) |
N499K |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,655,004 (GRCm39) |
M272V |
possibly damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,654,800 (GRCm39) |
S722R |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,358,843 (GRCm39) |
P344S |
probably benign |
Het |
| Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,709,002 (GRCm39) |
Y32H |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,229,275 (GRCm39) |
I105V |
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,032,652 (GRCm39) |
D130G |
possibly damaging |
Het |
| Trib1 |
A |
G |
15: 59,526,210 (GRCm39) |
Y260C |
probably damaging |
Het |
| Tsks |
G |
T |
7: 44,601,309 (GRCm39) |
R208L |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,577,585 (GRCm39) |
S22690* |
probably null |
Het |
| Ttyh2 |
T |
G |
11: 114,609,958 (GRCm39) |
S510A |
possibly damaging |
Het |
| Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,213,725 (GRCm39) |
C20S |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,685 (GRCm39) |
Y253* |
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 |
|
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 |
|
|
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'- TCACTGTTCTGAGTGTCGAC -3'
(R):5'- CTCGAGTGCTGGGATTAGAG -3'
Sequencing Primer
(F):5'- ACATGCAAGTTAAGACTTTACACATC -3'
(R):5'- GGATTAGAGGCGTGCGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation