Incidental Mutation 'R6327:Dld'
| ID |
510484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dld
|
| Ensembl Gene |
ENSMUSG00000020664 |
| Gene Name |
dihydrolipoamide dehydrogenase |
| Synonyms |
branched chain alpha-keto acid dehydrogenase complex subunit E3, dihydrolipoyl dehydrogenase |
| MMRRC Submission |
044481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31381561-31401470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31382190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 506
(P506S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002979]
[ENSMUST00000110857]
[ENSMUST00000169088]
|
| AlphaFold |
O08749 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002979
|
| SMART Domains |
Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
45 |
N/A |
INTRINSIC |
|
LamNT
|
77 |
317 |
3.24e-96 |
SMART |
|
EGF_Lam
|
319 |
380 |
1.34e-6 |
SMART |
|
EGF_Lam
|
383 |
443 |
1.33e-10 |
SMART |
|
EGF_Lam
|
446 |
503 |
2.89e-11 |
SMART |
|
EGF_Lam
|
506 |
555 |
2.89e-11 |
SMART |
|
EGF_Lam
|
558 |
602 |
3.4e-8 |
SMART |
|
EGF_Lam
|
821 |
866 |
4.99e-15 |
SMART |
|
EGF_Lam
|
869 |
912 |
2.38e-12 |
SMART |
|
EGF_Lam
|
915 |
962 |
2.4e-8 |
SMART |
|
EGF_Lam
|
965 |
1021 |
1.41e-5 |
SMART |
|
EGF_Lam
|
1024 |
1073 |
4.81e-8 |
SMART |
|
EGF_Lam
|
1076 |
1129 |
3.81e-11 |
SMART |
|
EGF_Lam
|
1132 |
1177 |
5.61e-9 |
SMART |
|
EGF_Lam
|
1180 |
1224 |
2.89e-11 |
SMART |
|
coiled coil region
|
1329 |
1360 |
N/A |
INTRINSIC |
|
low complexity region
|
1468 |
1480 |
N/A |
INTRINSIC |
|
coiled coil region
|
1497 |
1551 |
N/A |
INTRINSIC |
|
coiled coil region
|
1600 |
1826 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110857
AA Change: P506S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106481
Gene: ENSMUSG00000020664
AA Change: P506S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
42 |
370 |
2.3e-71 |
PFAM |
|
Pfam:FAD_binding_2
|
43 |
83 |
2.5e-7 |
PFAM |
|
Pfam:GIDA
|
43 |
111 |
1.7e-8 |
PFAM |
|
Pfam:FAD_oxidored
|
43 |
135 |
4.3e-10 |
PFAM |
|
Pfam:NAD_binding_8
|
46 |
100 |
1.4e-6 |
PFAM |
|
Pfam:Pyr_redox
|
215 |
298 |
4.9e-17 |
PFAM |
|
Pfam:Pyr_redox_dim
|
389 |
498 |
1.6e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169088
|
| SMART Domains |
Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
29 |
269 |
3.24e-96 |
SMART |
|
EGF_Lam
|
271 |
332 |
1.34e-6 |
SMART |
|
EGF_Lam
|
335 |
395 |
1.33e-10 |
SMART |
|
EGF_Lam
|
398 |
455 |
2.89e-11 |
SMART |
|
EGF_Lam
|
458 |
507 |
2.89e-11 |
SMART |
|
EGF_Lam
|
510 |
554 |
3.4e-8 |
SMART |
|
EGF_Lam
|
773 |
818 |
4.99e-15 |
SMART |
|
EGF_Lam
|
821 |
864 |
2.38e-12 |
SMART |
|
EGF_Lam
|
867 |
914 |
2.4e-8 |
SMART |
|
EGF_Lam
|
917 |
973 |
1.41e-5 |
SMART |
|
EGF_Lam
|
976 |
1025 |
4.81e-8 |
SMART |
|
EGF_Lam
|
1028 |
1081 |
3.81e-11 |
SMART |
|
EGF_Lam
|
1084 |
1129 |
5.61e-9 |
SMART |
|
EGF_Lam
|
1132 |
1176 |
2.89e-11 |
SMART |
|
coiled coil region
|
1281 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1432 |
N/A |
INTRINSIC |
|
coiled coil region
|
1449 |
1503 |
N/A |
INTRINSIC |
|
coiled coil region
|
1552 |
1778 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218624
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. [provided by RefSeq, Jan 2014]
PHENOTYPE: Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,535,655 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,969,774 (GRCm39) |
H383Q |
probably damaging |
Het |
| C2 |
C |
A |
17: 35,083,079 (GRCm39) |
A431S |
probably benign |
Het |
| C3ar1 |
C |
T |
6: 122,827,105 (GRCm39) |
V371M |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Ckap2l |
A |
G |
2: 129,127,414 (GRCm39) |
S255P |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,436,558 (GRCm39) |
I842F |
probably benign |
Het |
| Cmc2 |
G |
T |
8: 117,620,896 (GRCm39) |
H28Q |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,262,291 (GRCm39) |
P176L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,744,783 (GRCm39) |
D1404G |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,672,927 (GRCm39) |
M866T |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,348,375 (GRCm39) |
I451T |
possibly damaging |
Het |
| Fosb |
T |
C |
7: 19,041,152 (GRCm39) |
T114A |
probably benign |
Het |
| Foxd4 |
T |
A |
19: 24,878,198 (GRCm39) |
M1L |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,108 (GRCm39) |
I723N |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Hdlbp |
A |
G |
1: 93,357,186 (GRCm39) |
S299P |
possibly damaging |
Het |
| Mast4 |
G |
A |
13: 102,897,890 (GRCm39) |
R650C |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,819,238 (GRCm39) |
T306A |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,755,613 (GRCm39) |
Q259R |
possibly damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,642,325 (GRCm39) |
N31S |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,893,444 (GRCm39) |
|
probably benign |
Het |
| Nudt17 |
T |
C |
3: 96,615,080 (GRCm39) |
|
probably benign |
Het |
| Oprm1 |
A |
C |
10: 6,780,063 (GRCm39) |
I242L |
probably damaging |
Het |
| Or13a26 |
T |
C |
7: 140,284,616 (GRCm39) |
W151R |
probably damaging |
Het |
| Or14c39 |
T |
C |
7: 86,343,760 (GRCm39) |
V32A |
probably benign |
Het |
| Or2y1d |
A |
C |
11: 49,321,828 (GRCm39) |
H175P |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,826,496 (GRCm39) |
|
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,519 (GRCm39) |
D606V |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,308,817 (GRCm39) |
|
probably benign |
Het |
| Pom121l2 |
T |
C |
13: 22,166,502 (GRCm39) |
S258P |
probably damaging |
Het |
| Rcsd1 |
T |
A |
1: 165,483,403 (GRCm39) |
D196V |
possibly damaging |
Het |
| Sbf2 |
C |
T |
7: 110,040,759 (GRCm39) |
R356Q |
probably damaging |
Het |
| Serpinf1 |
A |
G |
11: 75,304,731 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
T |
G |
19: 8,313,086 (GRCm39) |
|
probably benign |
Het |
| Strn4 |
G |
T |
7: 16,550,384 (GRCm39) |
S36I |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,861,177 (GRCm39) |
L123P |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,943,137 (GRCm39) |
R5L |
unknown |
Het |
| Timp3 |
T |
C |
10: 86,181,650 (GRCm39) |
Y174H |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,768,061 (GRCm39) |
V813M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,852,951 (GRCm39) |
S670T |
probably damaging |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,651 (GRCm39) |
N194K |
possibly damaging |
Het |
|
| Other mutations in Dld |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Dld
|
APN |
12 |
31,385,576 (GRCm39) |
missense |
probably benign |
|
|
IGL00656:Dld
|
APN |
12 |
31,399,594 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00907:Dld
|
APN |
12 |
31,382,329 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01870:Dld
|
APN |
12 |
31,385,466 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02654:Dld
|
APN |
12 |
31,383,916 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02666:Dld
|
APN |
12 |
31,382,408 (GRCm39) |
missense |
probably null |
0.00 |
|
PIT4544001:Dld
|
UTSW |
12 |
31,385,556 (GRCm39) |
nonsense |
probably null |
|
|
R0973:Dld
|
UTSW |
12 |
31,384,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Dld
|
UTSW |
12 |
31,384,745 (GRCm39) |
missense |
probably benign |
|
|
R2225:Dld
|
UTSW |
12 |
31,391,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4614:Dld
|
UTSW |
12 |
31,383,944 (GRCm39) |
nonsense |
probably null |
|
|
R5933:Dld
|
UTSW |
12 |
31,383,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5966:Dld
|
UTSW |
12 |
31,390,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Dld
|
UTSW |
12 |
31,390,988 (GRCm39) |
missense |
probably benign |
|
|
R6190:Dld
|
UTSW |
12 |
31,394,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Dld
|
UTSW |
12 |
31,382,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7149:Dld
|
UTSW |
12 |
31,385,589 (GRCm39) |
missense |
probably benign |
|
|
R7414:Dld
|
UTSW |
12 |
31,385,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7730:Dld
|
UTSW |
12 |
31,390,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8944:Dld
|
UTSW |
12 |
31,390,868 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8989:Dld
|
UTSW |
12 |
31,383,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Dld
|
UTSW |
12 |
31,390,885 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9619:Dld
|
UTSW |
12 |
31,382,390 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Dld
|
UTSW |
12 |
31,391,388 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCACTGGAACAAGATACGTG -3'
(R):5'- CATTGGAATATGGTGCTTCCTG -3'
Sequencing Primer
(F):5'- CTGGAACAAGATACGTGAAATATAGG -3'
(R):5'- TGAAGATATAGCTCGAGTCTGCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation