Incidental Mutation 'R4196:Gulo'
| ID |
318576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gulo
|
| Ensembl Gene |
ENSMUSG00000034450 |
| Gene Name |
gulonolactone (L-) oxidase |
| Synonyms |
sfx, L-gulono-gamma-lactone oxidase |
| MMRRC Submission |
041027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R4196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
66224235-66246656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 66225702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 375
(P375T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059970]
|
| AlphaFold |
P58710 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059970
AA Change: P375T
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060912
Gene: ENSMUSG00000034450
AA Change: P375T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_4
|
21 |
156 |
7.6e-36 |
PFAM |
|
Pfam:ALO
|
180 |
438 |
2.8e-92 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,392,409 (GRCm39) |
K472E |
possibly damaging |
Het |
| Aup1 |
T |
C |
6: 83,032,211 (GRCm39) |
V126A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,958,200 (GRCm39) |
Y1014C |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,123,684 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,154,382 (GRCm39) |
|
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,337,209 (GRCm39) |
N221K |
possibly damaging |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,755,353 (GRCm39) |
N1295K |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,451 (GRCm39) |
L450P |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,383,014 (GRCm39) |
D328N |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Hspd1 |
T |
C |
1: 55,126,068 (GRCm39) |
M11V |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,598,671 (GRCm39) |
T243A |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,078,902 (GRCm39) |
R450H |
probably damaging |
Het |
| Lrp3 |
T |
A |
7: 34,902,835 (GRCm39) |
S504C |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,488,556 (GRCm39) |
V564A |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,138 (GRCm39) |
T110A |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,388,582 (GRCm39) |
T174A |
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,122,002 (GRCm38) |
T289S |
possibly damaging |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,213 (GRCm39) |
T222A |
probably damaging |
Het |
| Rhbdd3 |
G |
T |
11: 5,049,460 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
C |
A |
11: 87,479,598 (GRCm39) |
D239E |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,083,604 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
T |
A |
17: 85,368,306 (GRCm39) |
W525R |
probably damaging |
Het |
| Trim75 |
A |
G |
8: 65,435,416 (GRCm39) |
S345P |
probably damaging |
Het |
| Usp5 |
C |
T |
6: 124,801,901 (GRCm39) |
E72K |
possibly damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,237 (GRCm39) |
M226K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,160,457 (GRCm39) |
V697E |
probably damaging |
Het |
| Zbtb9 |
C |
T |
17: 27,192,853 (GRCm39) |
T86I |
probably benign |
Het |
|
| Other mutations in Gulo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Gulo
|
APN |
14 |
66,243,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAAGAAGCTGGGAGGATTCC -3'
(R):5'- ACAAGAGGGGACAACGTCTC -3'
Sequencing Primer
(F):5'- TTCCTCAGAGTTAATAGGGAGGAGC -3'
(R):5'- AGTGAGCAGGCATCTGTCCTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation