Incidental Mutation 'IGL00693:Lsm14b'
| ID |
11864 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lsm14b
|
| Ensembl Gene |
ENSMUSG00000039108 |
| Gene Name |
LSM family member 14B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
179666780-179677258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 179674419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 241
(N241D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029082]
[ENSMUST00000055485]
[ENSMUST00000058764]
[ENSMUST00000129529]
|
| AlphaFold |
Q8CGC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029082
|
| SMART Domains |
Protein: ENSMUSP00000029082
Gene: ENSMUSG00000027566
| Domain | Start | End | E-Value | Type |
|---|
|
Proteasome_A_N
|
3 |
25 |
1.84e-9 |
SMART |
|
Pfam:Proteasome
|
26 |
211 |
1.5e-65 |
PFAM |
|
low complexity region
|
223 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055485
AA Change: N321D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055036
Gene: ENSMUSG00000039108
AA Change: N321D
| Domain | Start | End | E-Value | Type |
|---|
|
LSM14
|
3 |
100 |
4.33e-53 |
SMART |
|
low complexity region
|
123 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
238 |
N/A |
INTRINSIC |
|
FDF
|
247 |
350 |
3.37e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058764
AA Change: N241D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062519
Gene: ENSMUSG00000039108
AA Change: N241D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
158 |
N/A |
INTRINSIC |
|
FDF
|
167 |
270 |
3.37e-32 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126021
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140257
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
G |
A |
19: 20,677,410 (GRCm39) |
P404S |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,696 (GRCm39) |
|
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,675,475 (GRCm39) |
Y1176H |
unknown |
Het |
| Dyrk3 |
T |
C |
1: 131,064,074 (GRCm39) |
I3V |
possibly damaging |
Het |
| Gpsm3 |
A |
G |
17: 34,810,247 (GRCm39) |
E149G |
probably damaging |
Het |
| Hsd3b6 |
A |
C |
3: 98,713,594 (GRCm39) |
L235R |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 107,033,768 (GRCm39) |
F238Y |
probably damaging |
Het |
| Kcnh7 |
C |
T |
2: 62,564,598 (GRCm39) |
R887K |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,327 (GRCm39) |
V47A |
probably benign |
Het |
| Mtss1 |
T |
A |
15: 58,815,973 (GRCm39) |
D529V |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,475,969 (GRCm39) |
S283T |
probably benign |
Het |
| Odad2 |
C |
T |
18: 7,211,504 (GRCm39) |
G790D |
probably damaging |
Het |
| Pno1 |
A |
G |
11: 17,161,317 (GRCm39) |
L64P |
probably benign |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Proc |
A |
G |
18: 32,256,566 (GRCm39) |
V367A |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,569,879 (GRCm39) |
I964N |
probably damaging |
Het |
| Speer2 |
A |
T |
16: 69,657,406 (GRCm39) |
M79K |
probably benign |
Het |
| Tef |
T |
C |
15: 81,699,384 (GRCm39) |
S131P |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,283,907 (GRCm39) |
T581A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,665,884 (GRCm39) |
D1045E |
probably benign |
Het |
| Vsig8 |
T |
C |
1: 172,389,156 (GRCm39) |
V136A |
probably damaging |
Het |
| Wee1 |
A |
T |
7: 109,734,060 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Lsm14b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Lsm14b
|
APN |
2 |
179,674,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03078:Lsm14b
|
APN |
2 |
179,668,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Lsm14b
|
UTSW |
2 |
179,674,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1166:Lsm14b
|
UTSW |
2 |
179,673,334 (GRCm39) |
unclassified |
probably benign |
|
|
R1777:Lsm14b
|
UTSW |
2 |
179,673,588 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1840:Lsm14b
|
UTSW |
2 |
179,668,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2095:Lsm14b
|
UTSW |
2 |
179,673,580 (GRCm39) |
unclassified |
probably benign |
|
|
R4033:Lsm14b
|
UTSW |
2 |
179,673,309 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4720:Lsm14b
|
UTSW |
2 |
179,669,774 (GRCm39) |
nonsense |
probably null |
|
|
R4967:Lsm14b
|
UTSW |
2 |
179,675,692 (GRCm39) |
unclassified |
probably benign |
|
|
R5964:Lsm14b
|
UTSW |
2 |
179,673,218 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8269:Lsm14b
|
UTSW |
2 |
179,674,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Lsm14b
|
UTSW |
2 |
179,667,107 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation