Incidental Mutation 'R1334:Ldah'
| ID |
156821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ldah
|
| Ensembl Gene |
ENSMUSG00000037669 |
| Gene Name |
lipid droplet associated hydrolase |
| Synonyms |
1110057K04Rik |
| MMRRC Submission |
039399-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
8258107-8335759 bp(+) (GRCm39) |
| Type of Mutation |
splice site (10 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 8334089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037383]
[ENSMUST00000169104]
[ENSMUST00000218305]
[ENSMUST00000219058]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037383
AA Change: *327Q
|
| SMART Domains |
Protein: ENSMUSP00000042285
Gene: ENSMUSG00000037669
AA Change: *327Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2305
|
43 |
304 |
5.2e-86 |
PFAM |
|
Pfam:Abhydrolase_5
|
46 |
302 |
1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169104
|
| SMART Domains |
Protein: ENSMUSP00000129424
Gene: ENSMUSG00000037669
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2305
|
43 |
236 |
2.2e-59 |
PFAM |
|
Pfam:Abhydrolase_6
|
47 |
209 |
2.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218305
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219058
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219532
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal with no major alterations in energy balance, glucose homeostasis, cholesterol ester or triacylglycerol metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,526 (GRCm39) |
E933G |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,805 (GRCm39) |
H75Q |
probably damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,276,387 (GRCm39) |
E282G |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,235,483 (GRCm39) |
P503L |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,617,642 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,517,658 (GRCm39) |
S297P |
probably damaging |
Het |
| Enpp4 |
C |
A |
17: 44,413,259 (GRCm39) |
V92L |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,513,000 (GRCm39) |
Y709N |
probably damaging |
Het |
| H2-Eb2 |
T |
G |
17: 34,553,324 (GRCm39) |
V170G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
| Micu1 |
T |
C |
10: 59,624,798 (GRCm39) |
L280P |
probably damaging |
Het |
| Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,024 (GRCm39) |
I290T |
probably benign |
Het |
| Or1q1 |
A |
T |
2: 36,886,872 (GRCm39) |
I17F |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,212,899 (GRCm39) |
Y119C |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
| Primpol |
T |
C |
8: 47,039,426 (GRCm39) |
Y398C |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
| St14 |
T |
C |
9: 31,019,506 (GRCm39) |
Y105C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,646,037 (GRCm39) |
N468K |
probably benign |
Het |
|
| Other mutations in Ldah |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:Ldah
|
APN |
12 |
8,277,337 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01532:Ldah
|
APN |
12 |
8,270,596 (GRCm39) |
splice site |
probably benign |
|
|
IGL02554:Ldah
|
APN |
12 |
8,333,935 (GRCm39) |
nonsense |
probably null |
|
|
IGL02866:Ldah
|
APN |
12 |
8,288,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0057:Ldah
|
UTSW |
12 |
8,288,432 (GRCm39) |
intron |
probably benign |
|
|
R4976:Ldah
|
UTSW |
12 |
8,277,237 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5119:Ldah
|
UTSW |
12 |
8,277,237 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5866:Ldah
|
UTSW |
12 |
8,270,614 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6254:Ldah
|
UTSW |
12 |
8,325,912 (GRCm39) |
unclassified |
probably benign |
|
|
R6271:Ldah
|
UTSW |
12 |
8,318,599 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8114:Ldah
|
UTSW |
12 |
8,334,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8460:Ldah
|
UTSW |
12 |
8,318,548 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9788:Ldah
|
UTSW |
12 |
8,333,946 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9794:Ldah
|
UTSW |
12 |
8,318,430 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAAAACTGATGGCTGGTGTCC -3'
(R):5'- TATCACGGCGATGGTCTCAGCAAG -3'
Sequencing Primer
(F):5'- CTGGTGTCCAGTAAAGTACTATGAAG -3'
(R):5'- GAAGTGATTTCCCCTCAACTAGG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation