Incidental Mutation 'IGL00325:Gulo'
| ID |
4166 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gulo
|
| Ensembl Gene |
ENSMUSG00000034450 |
| Gene Name |
gulonolactone (L-) oxidase |
| Synonyms |
sfx, L-gulono-gamma-lactone oxidase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL00325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
66224235-66246656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 66243398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 40
(A40D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059970]
|
| AlphaFold |
P58710 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059970
AA Change: A40D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060912
Gene: ENSMUSG00000034450
AA Change: A40D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_4
|
21 |
156 |
7.6e-36 |
PFAM |
|
Pfam:ALO
|
180 |
438 |
2.8e-92 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for spontaneous mutations exhibit impaired growth and mobility, decreased spleen and thymus weights, reduced serum calcium, phosphate, alkaline phosphatase, IGF1, and osteocalcin levels, and small, fragile and histologically abnormal bones. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
G |
11: 69,773,517 (GRCm39) |
S431P |
possibly damaging |
Het |
| Arid1b |
C |
A |
17: 5,387,385 (GRCm39) |
R1613S |
possibly damaging |
Het |
| Atxn2l |
T |
C |
7: 126,097,460 (GRCm39) |
D196G |
possibly damaging |
Het |
| Bag3 |
C |
A |
7: 128,148,065 (GRCm39) |
T560K |
probably benign |
Het |
| BC051076 |
A |
G |
5: 88,112,354 (GRCm39) |
|
probably benign |
Het |
| Becn1 |
A |
T |
11: 101,186,448 (GRCm39) |
M18K |
probably benign |
Het |
| C130050O18Rik |
G |
A |
5: 139,400,493 (GRCm39) |
C182Y |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,811,627 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
C |
T |
8: 46,623,222 (GRCm39) |
S204L |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,165,786 (GRCm39) |
T100A |
probably benign |
Het |
| Gab2 |
C |
T |
7: 96,948,465 (GRCm39) |
P352S |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,465,111 (GRCm39) |
I360N |
possibly damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Irs1 |
T |
C |
1: 82,266,204 (GRCm39) |
I671V |
probably benign |
Het |
| Itgax |
T |
C |
7: 127,747,481 (GRCm39) |
V1028A |
possibly damaging |
Het |
| Lamb3 |
T |
C |
1: 193,002,755 (GRCm39) |
C67R |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,235,868 (GRCm39) |
V1237E |
probably damaging |
Het |
| Nat8 |
C |
T |
6: 85,807,579 (GRCm39) |
V185M |
probably benign |
Het |
| Ninj2 |
A |
C |
6: 120,175,023 (GRCm39) |
T65P |
probably benign |
Het |
| Nrg2 |
T |
C |
18: 36,154,271 (GRCm39) |
M549V |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,818 (GRCm39) |
M801V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,170,875 (GRCm39) |
D589G |
probably damaging |
Het |
| Ppp1r35 |
T |
A |
5: 137,777,799 (GRCm39) |
V155E |
probably damaging |
Het |
| Prss36 |
T |
A |
7: 127,544,099 (GRCm39) |
|
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,960,065 (GRCm39) |
K182E |
probably damaging |
Het |
| Ring1 |
T |
G |
17: 34,241,983 (GRCm39) |
E142A |
possibly damaging |
Het |
| Sidt2 |
T |
A |
9: 45,853,534 (GRCm39) |
M689L |
possibly damaging |
Het |
| Slc45a4 |
A |
G |
15: 73,459,504 (GRCm39) |
V95A |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,947,480 (GRCm39) |
V1278A |
possibly damaging |
Het |
| Stk36 |
A |
T |
1: 74,673,861 (GRCm39) |
K1251N |
possibly damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,262 (GRCm39) |
S53R |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,858 (GRCm39) |
E243V |
probably benign |
Het |
|
| Other mutations in Gulo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01736:Gulo
|
APN |
14 |
66,234,325 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0599:Gulo
|
UTSW |
14 |
66,227,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Gulo
|
UTSW |
14 |
66,246,496 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R2058:Gulo
|
UTSW |
14 |
66,228,608 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2079:Gulo
|
UTSW |
14 |
66,227,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2405:Gulo
|
UTSW |
14 |
66,228,477 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4196:Gulo
|
UTSW |
14 |
66,225,702 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4807:Gulo
|
UTSW |
14 |
66,227,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5341:Gulo
|
UTSW |
14 |
66,225,707 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5913:Gulo
|
UTSW |
14 |
66,237,470 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5915:Gulo
|
UTSW |
14 |
66,245,570 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6328:Gulo
|
UTSW |
14 |
66,240,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6628:Gulo
|
UTSW |
14 |
66,241,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7725:Gulo
|
UTSW |
14 |
66,245,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7935:Gulo
|
UTSW |
14 |
66,237,288 (GRCm39) |
missense |
probably benign |
|
|
R8720:Gulo
|
UTSW |
14 |
66,225,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8940:Gulo
|
UTSW |
14 |
66,235,040 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9458:Gulo
|
UTSW |
14 |
66,235,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9716:Gulo
|
UTSW |
14 |
66,234,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9746:Gulo
|
UTSW |
14 |
66,225,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation