Incidental Mutation 'R0846:Ldc1'
| ID |
77366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ldc1
|
| Ensembl Gene |
ENSMUSG00000023120 |
| Gene Name |
leucine decarboxylase 1 |
| Synonyms |
Gm853, LOC332942 |
| MMRRC Submission |
039025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R0846 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
130102902-130116194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 130115417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 44
(S44A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023884]
|
| AlphaFold |
Q3UNZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023884
AA Change: S44A
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000023884
Gene: ENSMUSG00000023120
AA Change: S44A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Orn_Arg_deC_N
|
56 |
294 |
3.6e-79 |
PFAM |
|
Pfam:Orn_DAP_Arg_deC
|
263 |
410 |
4.3e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.2%
- 20x: 90.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,071 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,627,861 (GRCm39) |
R3667* |
probably null |
Het |
| Adh5 |
T |
G |
3: 138,156,835 (GRCm39) |
C174G |
probably damaging |
Het |
| Cap1 |
A |
C |
4: 122,756,692 (GRCm39) |
|
probably null |
Het |
| Caps2 |
G |
A |
10: 112,051,490 (GRCm39) |
R587H |
probably damaging |
Het |
| Ccn1 |
T |
A |
3: 145,353,525 (GRCm39) |
M346L |
possibly damaging |
Het |
| Cdo1 |
A |
G |
18: 46,848,812 (GRCm39) |
V142A |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,467 (GRCm39) |
T345A |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,409 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
T |
C |
1: 159,147,386 (GRCm39) |
Y571H |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,214,182 (GRCm39) |
T58S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,283 (GRCm39) |
V163A |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,585 (GRCm39) |
N3548K |
probably damaging |
Het |
| Ehhadh |
G |
T |
16: 21,592,247 (GRCm39) |
S152* |
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,734 (GRCm39) |
T160A |
probably benign |
Het |
| Fos |
C |
T |
12: 85,522,457 (GRCm39) |
T162I |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,190,145 (GRCm39) |
I546V |
probably benign |
Het |
| Gal3st2c |
T |
C |
1: 93,934,669 (GRCm39) |
V19A |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,521,298 (GRCm39) |
S443T |
probably benign |
Het |
| Klf4 |
G |
A |
4: 55,530,191 (GRCm39) |
H307Y |
probably damaging |
Het |
| Mark3 |
A |
G |
12: 111,593,658 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mnat1 |
T |
G |
12: 73,170,706 (GRCm39) |
|
probably null |
Het |
| Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
| Otogl |
T |
G |
10: 107,608,157 (GRCm39) |
T2073P |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,672,257 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,358,993 (GRCm39) |
S401P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,901,627 (GRCm39) |
Y262H |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,447 (GRCm39) |
K139N |
probably benign |
Het |
| Scamp4 |
T |
C |
10: 80,450,537 (GRCm39) |
F205L |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,155,099 (GRCm39) |
S620N |
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,442,596 (GRCm39) |
D79G |
possibly damaging |
Het |
| Sync |
A |
G |
4: 129,187,897 (GRCm39) |
S310G |
probably benign |
Het |
| Tbc1d9b |
A |
C |
11: 50,062,148 (GRCm39) |
I1219L |
probably benign |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,657 (GRCm39) |
M263K |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,691 (GRCm39) |
C302S |
probably damaging |
Het |
|
| Other mutations in Ldc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:Ldc1
|
APN |
4 |
130,115,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01485:Ldc1
|
APN |
4 |
130,109,218 (GRCm39) |
missense |
probably benign |
0.02 |
|
1mM(1):Ldc1
|
UTSW |
4 |
130,110,374 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4382001:Ldc1
|
UTSW |
4 |
130,112,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0762:Ldc1
|
UTSW |
4 |
130,115,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1070:Ldc1
|
UTSW |
4 |
130,112,949 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1918:Ldc1
|
UTSW |
4 |
130,105,186 (GRCm39) |
missense |
probably benign |
|
|
R2117:Ldc1
|
UTSW |
4 |
130,109,156 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2566:Ldc1
|
UTSW |
4 |
130,103,681 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4110:Ldc1
|
UTSW |
4 |
130,112,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5033:Ldc1
|
UTSW |
4 |
130,115,408 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5658:Ldc1
|
UTSW |
4 |
130,114,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5751:Ldc1
|
UTSW |
4 |
130,114,234 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6283:Ldc1
|
UTSW |
4 |
130,115,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6993:Ldc1
|
UTSW |
4 |
130,112,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Ldc1
|
UTSW |
4 |
130,112,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7773:Ldc1
|
UTSW |
4 |
130,114,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8254:Ldc1
|
UTSW |
4 |
130,114,136 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8329:Ldc1
|
UTSW |
4 |
130,109,156 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8888:Ldc1
|
UTSW |
4 |
130,105,223 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8895:Ldc1
|
UTSW |
4 |
130,105,223 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9262:Ldc1
|
UTSW |
4 |
130,114,153 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9680:Ldc1
|
UTSW |
4 |
130,115,527 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ldc1
|
UTSW |
4 |
130,115,497 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATGACTTCAGCCCCAGATGATG -3'
(R):5'- TAATGGGACCCAGGCTTCAGTGAC -3'
Sequencing Primer
(F):5'- AGCCCCAGATGATGGCTTG -3'
(R):5'- CAGGCTTCAGTGACTTGGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation