Incidental Mutation 'R7786:Oplah'
ID |
599550 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oplah
|
Ensembl Gene |
ENSMUSG00000022562 |
Gene Name |
5-oxoprolinase (ATP-hydrolysing) |
Synonyms |
|
MMRRC Submission |
045842-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R7786 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76180801-76212215 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76193916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 14
(I14F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023222]
[ENSMUST00000164189]
[ENSMUST00000165279]
[ENSMUST00000171340]
[ENSMUST00000210024]
|
AlphaFold |
Q8K010 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023222
|
SMART Domains |
Protein: ENSMUSP00000023222 Gene: ENSMUSG00000022562
Domain | Start | End | E-Value | Type |
Pfam:Hydant_A_N
|
9 |
212 |
1.5e-63 |
PFAM |
Pfam:Hydantoinase_A
|
231 |
531 |
6.4e-109 |
PFAM |
low complexity region
|
629 |
637 |
N/A |
INTRINSIC |
Pfam:Hydantoinase_B
|
734 |
1256 |
5.2e-225 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164189
|
SMART Domains |
Protein: ENSMUSP00000131967 Gene: ENSMUSG00000022562
Domain | Start | End | E-Value | Type |
Pfam:Hydant_A_N
|
9 |
212 |
9.8e-61 |
PFAM |
Pfam:Hydantoinase_A
|
231 |
531 |
6.9e-103 |
PFAM |
low complexity region
|
629 |
637 |
N/A |
INTRINSIC |
Pfam:Hydantoinase_B
|
733 |
853 |
2.3e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165279
|
SMART Domains |
Protein: ENSMUSP00000127955 Gene: ENSMUSG00000022562
Domain | Start | End | E-Value | Type |
Pfam:Hydant_A_N
|
9 |
53 |
8.2e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171340
|
SMART Domains |
Protein: ENSMUSP00000129100 Gene: ENSMUSG00000022562
Domain | Start | End | E-Value | Type |
Pfam:Hydant_A_N
|
9 |
212 |
2.8e-60 |
PFAM |
Pfam:Hydantoinase_A
|
231 |
531 |
6.6e-102 |
PFAM |
low complexity region
|
629 |
637 |
N/A |
INTRINSIC |
Pfam:Hydantoinase_B
|
733 |
1260 |
8.2e-190 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210024
AA Change: I14F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
95% (42/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa2 |
T |
C |
18: 74,925,518 (GRCm39) |
S94P |
probably damaging |
Het |
Adam18 |
C |
T |
8: 25,101,134 (GRCm39) |
R676H |
probably benign |
Het |
Akna |
A |
G |
4: 63,313,199 (GRCm39) |
L308P |
probably benign |
Het |
Ambra1 |
G |
C |
2: 91,598,141 (GRCm39) |
V101L |
possibly damaging |
Het |
Arnt |
A |
G |
3: 95,392,267 (GRCm39) |
D377G |
probably damaging |
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
Cfap210 |
A |
T |
2: 69,612,092 (GRCm39) |
W179R |
probably damaging |
Het |
Cit |
C |
A |
5: 116,001,077 (GRCm39) |
Q159K |
probably benign |
Het |
Dnah1 |
A |
T |
14: 30,984,478 (GRCm39) |
H3935Q |
probably damaging |
Het |
Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
Fcrla |
G |
T |
1: 170,748,426 (GRCm39) |
P265Q |
possibly damaging |
Het |
Gabbr1 |
A |
T |
17: 37,380,955 (GRCm39) |
N766I |
probably damaging |
Het |
Galnt14 |
T |
A |
17: 74,016,976 (GRCm39) |
T27S |
probably benign |
Het |
Garin2 |
T |
A |
12: 78,766,403 (GRCm39) |
S391T |
probably benign |
Het |
Gatad2b |
T |
C |
3: 90,262,986 (GRCm39) |
I476T |
probably damaging |
Het |
Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
Gtf2ird1 |
C |
A |
5: 134,419,753 (GRCm39) |
G71* |
probably null |
Het |
Hdac11 |
T |
A |
6: 91,150,158 (GRCm39) |
L319* |
probably null |
Het |
Hsd11b2 |
T |
A |
8: 106,245,506 (GRCm39) |
W4R |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,464,466 (GRCm39) |
I1278V |
probably benign |
Het |
Krt76 |
T |
A |
15: 101,798,965 (GRCm39) |
E240V |
probably damaging |
Het |
Man2b1 |
C |
T |
8: 85,812,085 (GRCm39) |
Q180* |
probably null |
Het |
Megf8 |
T |
C |
7: 25,017,120 (GRCm39) |
|
probably null |
Het |
Mlh3 |
T |
C |
12: 85,313,511 (GRCm39) |
T892A |
probably benign |
Het |
Mmp21 |
C |
T |
7: 133,276,764 (GRCm39) |
S413N |
probably benign |
Het |
Nav1 |
T |
C |
1: 135,397,733 (GRCm39) |
D812G |
probably damaging |
Het |
Nox4 |
T |
A |
7: 86,945,050 (GRCm39) |
I71N |
probably damaging |
Het |
Or51i2 |
G |
A |
7: 103,689,930 (GRCm39) |
R309H |
unknown |
Het |
Or52p1 |
T |
A |
7: 104,266,925 (GRCm39) |
I13N |
probably benign |
Het |
Or5w16 |
A |
T |
2: 87,576,645 (GRCm39) |
Y35F |
probably damaging |
Het |
Pik3ap1 |
A |
G |
19: 41,310,024 (GRCm39) |
M432T |
probably damaging |
Het |
Plin3 |
G |
A |
17: 56,586,757 (GRCm39) |
T430I |
probably benign |
Het |
Poc5 |
C |
A |
13: 96,541,027 (GRCm39) |
Q399K |
possibly damaging |
Het |
Ptprz1 |
G |
A |
6: 23,036,992 (GRCm39) |
G2013R |
probably damaging |
Het |
Rgs7bp |
T |
C |
13: 105,190,568 (GRCm39) |
D52G |
probably benign |
Het |
Tenm2 |
A |
C |
11: 35,901,276 (GRCm39) |
F2488V |
probably damaging |
Het |
Tnfaip8 |
G |
C |
18: 50,180,178 (GRCm39) |
A110P |
unknown |
Het |
Tnfaip8 |
C |
T |
18: 50,180,179 (GRCm39) |
A110V |
unknown |
Het |
Top3a |
C |
T |
11: 60,667,792 (GRCm39) |
A46T |
probably damaging |
Het |
Try10 |
T |
A |
6: 41,332,463 (GRCm39) |
S40T |
possibly damaging |
Het |
Vav2 |
C |
A |
2: 27,276,613 (GRCm39) |
L70F |
probably damaging |
Het |
Xylt1 |
C |
A |
7: 117,242,702 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Oplah |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01074:Oplah
|
APN |
15 |
76,189,948 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01132:Oplah
|
APN |
15 |
76,185,157 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02252:Oplah
|
APN |
15 |
76,188,964 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02493:Oplah
|
APN |
15 |
76,185,155 (GRCm39) |
nonsense |
probably null |
|
R0033:Oplah
|
UTSW |
15 |
76,181,334 (GRCm39) |
missense |
probably benign |
0.03 |
R0418:Oplah
|
UTSW |
15 |
76,182,687 (GRCm39) |
missense |
probably benign |
0.06 |
R0609:Oplah
|
UTSW |
15 |
76,187,192 (GRCm39) |
missense |
probably benign |
0.00 |
R1374:Oplah
|
UTSW |
15 |
76,190,755 (GRCm39) |
missense |
probably damaging |
0.99 |
R1419:Oplah
|
UTSW |
15 |
76,182,120 (GRCm39) |
missense |
probably benign |
0.41 |
R1703:Oplah
|
UTSW |
15 |
76,180,867 (GRCm39) |
missense |
probably benign |
0.02 |
R1733:Oplah
|
UTSW |
15 |
76,186,683 (GRCm39) |
nonsense |
probably null |
|
R1959:Oplah
|
UTSW |
15 |
76,181,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R1960:Oplah
|
UTSW |
15 |
76,181,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R1961:Oplah
|
UTSW |
15 |
76,181,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R2290:Oplah
|
UTSW |
15 |
76,186,925 (GRCm39) |
missense |
probably benign |
0.00 |
R3552:Oplah
|
UTSW |
15 |
76,186,294 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4019:Oplah
|
UTSW |
15 |
76,181,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R4020:Oplah
|
UTSW |
15 |
76,181,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R4207:Oplah
|
UTSW |
15 |
76,186,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R4512:Oplah
|
UTSW |
15 |
76,182,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R4514:Oplah
|
UTSW |
15 |
76,182,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R4525:Oplah
|
UTSW |
15 |
76,189,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R4803:Oplah
|
UTSW |
15 |
76,186,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5042:Oplah
|
UTSW |
15 |
76,189,909 (GRCm39) |
nonsense |
probably null |
|
R5259:Oplah
|
UTSW |
15 |
76,185,410 (GRCm39) |
splice site |
probably null |
|
R5284:Oplah
|
UTSW |
15 |
76,190,759 (GRCm39) |
missense |
probably benign |
0.00 |
R5503:Oplah
|
UTSW |
15 |
76,189,646 (GRCm39) |
critical splice donor site |
probably null |
|
R5511:Oplah
|
UTSW |
15 |
76,189,944 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5549:Oplah
|
UTSW |
15 |
76,182,466 (GRCm39) |
missense |
probably damaging |
0.98 |
R5594:Oplah
|
UTSW |
15 |
76,180,837 (GRCm39) |
makesense |
probably null |
|
R5631:Oplah
|
UTSW |
15 |
76,189,441 (GRCm39) |
missense |
probably benign |
0.01 |
R5849:Oplah
|
UTSW |
15 |
76,181,547 (GRCm39) |
unclassified |
probably benign |
|
R6776:Oplah
|
UTSW |
15 |
76,185,053 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7105:Oplah
|
UTSW |
15 |
76,181,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R7146:Oplah
|
UTSW |
15 |
76,186,860 (GRCm39) |
missense |
probably benign |
|
R7267:Oplah
|
UTSW |
15 |
76,189,209 (GRCm39) |
missense |
probably benign |
0.00 |
R7403:Oplah
|
UTSW |
15 |
76,189,209 (GRCm39) |
missense |
probably benign |
0.00 |
R8029:Oplah
|
UTSW |
15 |
76,189,896 (GRCm39) |
missense |
probably benign |
|
R8054:Oplah
|
UTSW |
15 |
76,190,457 (GRCm39) |
missense |
probably benign |
0.00 |
R8202:Oplah
|
UTSW |
15 |
76,186,669 (GRCm39) |
missense |
probably benign |
0.22 |
R8913:Oplah
|
UTSW |
15 |
76,181,680 (GRCm39) |
missense |
|
|
R9025:Oplah
|
UTSW |
15 |
76,187,417 (GRCm39) |
missense |
probably benign |
0.01 |
R9106:Oplah
|
UTSW |
15 |
76,189,876 (GRCm39) |
missense |
probably benign |
0.13 |
R9130:Oplah
|
UTSW |
15 |
76,185,098 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9364:Oplah
|
UTSW |
15 |
76,193,787 (GRCm39) |
missense |
probably benign |
0.16 |
R9554:Oplah
|
UTSW |
15 |
76,193,787 (GRCm39) |
missense |
probably benign |
0.16 |
R9780:Oplah
|
UTSW |
15 |
76,181,940 (GRCm39) |
missense |
probably damaging |
0.99 |
X0065:Oplah
|
UTSW |
15 |
76,189,363 (GRCm39) |
nonsense |
probably null |
|
Z1177:Oplah
|
UTSW |
15 |
76,182,687 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCGACATCCTTGAATCTGATCG -3'
(R):5'- TCTGATGGTCCTTCAGAGCC -3'
Sequencing Primer
(F):5'- GACATCCTTGAATCTGATCGTTTTC -3'
(R):5'- TGAAACCTGCTCCAGTCAGG -3'
|
Posted On |
2019-11-26 |