Incidental Mutation 'IGL01694:Mdh1b'
| ID |
104226 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mdh1b
|
| Ensembl Gene |
ENSMUSG00000025963 |
| Gene Name |
malate dehydrogenase 1B, NAD (soluble) |
| Synonyms |
1700124B08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL01694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
63737978-63769477 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 63750265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114094]
|
| AlphaFold |
Q5F204 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114094
|
| SMART Domains |
Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
SCOP:d1b8pa1
|
131 |
282 |
1e-16 |
SMART |
|
PDB:5MDH|B
|
131 |
457 |
3e-32 |
PDB |
|
SCOP:d7mdha2
|
290 |
454 |
7e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,818,659 (GRCm39) |
*219W |
probably null |
Het |
| Abi1 |
G |
A |
2: 22,850,725 (GRCm39) |
T238M |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,631,418 (GRCm39) |
L259F |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,319,938 (GRCm39) |
I1413F |
probably damaging |
Het |
| Ddx21 |
T |
A |
10: 62,434,430 (GRCm39) |
K110* |
probably null |
Het |
| Dnm1l |
A |
T |
16: 16,134,515 (GRCm39) |
I463N |
probably benign |
Het |
| Dst |
C |
A |
1: 34,227,241 (GRCm39) |
H1286Q |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,693 (GRCm39) |
N67K |
probably benign |
Het |
| Eps8l3 |
G |
A |
3: 107,799,624 (GRCm39) |
C578Y |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,398,272 (GRCm39) |
I944F |
probably benign |
Het |
| Itga10 |
A |
T |
3: 96,559,833 (GRCm39) |
D496V |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,882,738 (GRCm39) |
K2608N |
possibly damaging |
Het |
| Lap3 |
T |
A |
5: 45,655,937 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 90,988,320 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,370,850 (GRCm39) |
|
probably benign |
Het |
| Opalin |
A |
G |
19: 41,052,239 (GRCm39) |
|
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,688,041 (GRCm39) |
N57S |
probably benign |
Het |
| Plxna3 |
T |
A |
X: 73,382,114 (GRCm39) |
D1291E |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,595,178 (GRCm39) |
I101F |
probably benign |
Het |
| Rpl5 |
T |
C |
5: 108,055,106 (GRCm39) |
Y253H |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,259 (GRCm39) |
I278T |
probably benign |
Het |
| Slc25a34 |
G |
A |
4: 141,349,564 (GRCm39) |
A197V |
probably benign |
Het |
| Slco6d1 |
C |
T |
1: 98,427,570 (GRCm39) |
R634W |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,577,166 (GRCm39) |
A871D |
probably damaging |
Het |
| Speer2 |
C |
T |
16: 69,655,000 (GRCm39) |
S155N |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,001 (GRCm39) |
S155C |
probably damaging |
Het |
| Spink12 |
T |
A |
18: 44,240,827 (GRCm39) |
V71E |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,475 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,210,624 (GRCm39) |
T78I |
possibly damaging |
Het |
| Tub |
T |
C |
7: 108,620,243 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,802,631 (GRCm39) |
V644D |
probably damaging |
Het |
| Zfp7 |
C |
T |
15: 76,774,995 (GRCm39) |
Q346* |
probably null |
Het |
|
| Other mutations in Mdh1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02314:Mdh1b
|
APN |
1 |
63,750,273 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02390:Mdh1b
|
APN |
1 |
63,760,716 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02582:Mdh1b
|
APN |
1 |
63,758,756 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02864:Mdh1b
|
APN |
1 |
63,760,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02887:Mdh1b
|
APN |
1 |
63,754,523 (GRCm39) |
splice site |
probably benign |
|
|
IGL03073:Mdh1b
|
APN |
1 |
63,760,646 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03372:Mdh1b
|
APN |
1 |
63,759,154 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02835:Mdh1b
|
UTSW |
1 |
63,757,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Mdh1b
|
UTSW |
1 |
63,760,959 (GRCm39) |
splice site |
probably benign |
|
|
R0015:Mdh1b
|
UTSW |
1 |
63,760,959 (GRCm39) |
splice site |
probably benign |
|
|
R0255:Mdh1b
|
UTSW |
1 |
63,758,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Mdh1b
|
UTSW |
1 |
63,758,681 (GRCm39) |
missense |
probably benign |
|
|
R2057:Mdh1b
|
UTSW |
1 |
63,760,741 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3177:Mdh1b
|
UTSW |
1 |
63,750,690 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3277:Mdh1b
|
UTSW |
1 |
63,750,690 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3522:Mdh1b
|
UTSW |
1 |
63,758,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4938:Mdh1b
|
UTSW |
1 |
63,750,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4967:Mdh1b
|
UTSW |
1 |
63,759,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Mdh1b
|
UTSW |
1 |
63,750,620 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5160:Mdh1b
|
UTSW |
1 |
63,764,804 (GRCm39) |
missense |
probably null |
0.01 |
|
R5311:Mdh1b
|
UTSW |
1 |
63,759,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6345:Mdh1b
|
UTSW |
1 |
63,754,398 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6974:Mdh1b
|
UTSW |
1 |
63,760,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7073:Mdh1b
|
UTSW |
1 |
63,760,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Mdh1b
|
UTSW |
1 |
63,754,429 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7780:Mdh1b
|
UTSW |
1 |
63,759,133 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8271:Mdh1b
|
UTSW |
1 |
63,759,164 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8556:Mdh1b
|
UTSW |
1 |
63,750,141 (GRCm39) |
splice site |
probably null |
|
|
R8681:Mdh1b
|
UTSW |
1 |
63,754,360 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Mdh1b
|
UTSW |
1 |
63,750,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation