Incidental Mutation 'R5849:Oplah'
| ID |
453805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oplah
|
| Ensembl Gene |
ENSMUSG00000022562 |
| Gene Name |
5-oxoprolinase (ATP-hydrolysing) |
| Synonyms |
|
| MMRRC Submission |
044066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5849 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76180801-76212215 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 76181547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023222]
[ENSMUST00000074173]
[ENSMUST00000163991]
[ENSMUST00000164189]
[ENSMUST00000171340]
[ENSMUST00000230221]
[ENSMUST00000171192]
|
| 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: ENSMUST00000074173
|
| SMART Domains |
Protein: ENSMUSP00000073805
Gene: ENSMUSG00000049653
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Speriolin_N
|
1 |
176 |
5.1e-67 |
PFAM |
|
Pfam:Speriolin_N
|
172 |
262 |
1.2e-25 |
PFAM |
|
Pfam:Speriolin_C
|
334 |
480 |
1.5e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000096370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163991
|
| SMART Domains |
Protein: ENSMUSP00000134687
Gene: ENSMUSG00000071724
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
176 |
471 |
4.1e-11 |
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 |
noncoding transcript
Transcript: ENSMUST00000169664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170261
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000170063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171192
|
| SMART Domains |
Protein: ENSMUSP00000133693
Gene: ENSMUSG00000071724
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
96% (72/75) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Agbl1 |
T |
C |
7: 75,974,846 (GRCm39) |
S113P |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,224,045 (GRCm39) |
D486G |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,163,312 (GRCm39) |
D111G |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,665,192 (GRCm39) |
S469G |
probably null |
Het |
| Comtd1 |
C |
T |
14: 21,898,188 (GRCm39) |
G48D |
probably damaging |
Het |
| Cyp27a1 |
T |
C |
1: 74,775,843 (GRCm39) |
S343P |
probably damaging |
Het |
| Dcun1d1 |
T |
A |
3: 35,970,333 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,744,223 (GRCm39) |
I1404T |
possibly damaging |
Het |
| Dlgap5 |
A |
G |
14: 47,626,892 (GRCm39) |
S766P |
possibly damaging |
Het |
| Ebf1 |
T |
A |
11: 44,881,331 (GRCm39) |
|
probably null |
Het |
| Flcn |
T |
A |
11: 59,695,586 (GRCm39) |
I4L |
probably damaging |
Het |
| Gm57858 |
A |
T |
3: 36,087,026 (GRCm39) |
D189E |
possibly damaging |
Het |
| Grin2c |
T |
C |
11: 115,151,817 (GRCm39) |
T48A |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,891,555 (GRCm39) |
S456R |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,781 (GRCm39) |
D696G |
probably benign |
Het |
| Iqgap1 |
A |
T |
7: 80,452,906 (GRCm39) |
V13D |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,916,492 (GRCm39) |
N728S |
probably benign |
Het |
| Kcnb1 |
T |
A |
2: 166,947,946 (GRCm39) |
I301F |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,366,111 (GRCm39) |
|
probably benign |
Het |
| Kdm4a |
C |
T |
4: 118,019,037 (GRCm39) |
R393Q |
probably benign |
Het |
| Lcn9 |
G |
A |
2: 25,713,268 (GRCm39) |
|
probably null |
Het |
| Madcam1 |
T |
A |
10: 79,500,824 (GRCm39) |
M47K |
probably benign |
Het |
| Matn3 |
A |
G |
12: 9,008,829 (GRCm39) |
Q314R |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,386,386 (GRCm39) |
D826E |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,595,213 (GRCm39) |
T3088S |
possibly damaging |
Het |
| Mup3 |
T |
G |
4: 62,005,172 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
G |
11: 115,772,759 (GRCm39) |
K1807E |
probably damaging |
Het |
| Myrip |
A |
G |
9: 120,282,759 (GRCm39) |
D688G |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,840,452 (GRCm39) |
F1052S |
probably damaging |
Het |
| Or4f14d |
A |
T |
2: 111,960,223 (GRCm39) |
I311K |
probably benign |
Het |
| Or52r1c |
T |
A |
7: 102,734,728 (GRCm39) |
M1K |
probably null |
Het |
| Or6z3 |
A |
T |
7: 6,463,993 (GRCm39) |
I162F |
possibly damaging |
Het |
| Or9g19 |
A |
T |
2: 85,600,768 (GRCm39) |
I208F |
probably benign |
Het |
| Pacsin2 |
A |
G |
15: 83,274,719 (GRCm39) |
F120L |
possibly damaging |
Het |
| Ppp1r36 |
C |
A |
12: 76,485,931 (GRCm39) |
P363Q |
probably damaging |
Het |
| Rai1 |
C |
A |
11: 60,081,347 (GRCm39) |
H1804N |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rnf214 |
G |
A |
9: 45,779,386 (GRCm39) |
P455S |
probably damaging |
Het |
| Rnf220 |
T |
C |
4: 117,134,809 (GRCm39) |
T188A |
possibly damaging |
Het |
| S1pr4 |
C |
T |
10: 81,335,157 (GRCm39) |
V106M |
possibly damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,704 (GRCm39) |
S495I |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,443,683 (GRCm39) |
E95G |
possibly damaging |
Het |
| Sema3f |
G |
A |
9: 107,559,815 (GRCm39) |
T693M |
probably damaging |
Het |
| Slfn2 |
C |
A |
11: 82,960,402 (GRCm39) |
T127K |
probably benign |
Het |
| Snrpe |
T |
A |
1: 133,536,652 (GRCm39) |
I43L |
probably benign |
Het |
| Srsf1 |
T |
C |
11: 87,938,684 (GRCm39) |
I7T |
possibly damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,453,837 (GRCm39) |
|
probably benign |
Het |
| Stbd1 |
T |
G |
5: 92,752,854 (GRCm39) |
F115V |
probably benign |
Het |
| Stk11ip |
T |
A |
1: 75,503,999 (GRCm39) |
|
probably null |
Het |
| Taf1b |
T |
A |
12: 24,550,524 (GRCm39) |
N36K |
probably damaging |
Het |
| Tanc1 |
A |
T |
2: 59,630,248 (GRCm39) |
M743L |
probably benign |
Het |
| Tnfsf12 |
C |
A |
11: 69,577,793 (GRCm39) |
R208L |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,511,534 (GRCm39) |
D428G |
probably damaging |
Het |
| Trim24 |
A |
G |
6: 37,934,664 (GRCm39) |
E793G |
probably damaging |
Het |
| Tspan32 |
T |
C |
7: 142,569,324 (GRCm39) |
C100R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,576,586 (GRCm39) |
D16442G |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,863,407 (GRCm39) |
L894Q |
probably damaging |
Het |
| Wfs1 |
C |
G |
5: 37,130,608 (GRCm39) |
G213R |
probably damaging |
Het |
| Zfp384 |
G |
A |
6: 125,001,062 (GRCm39) |
A45T |
possibly damaging |
Het |
| Zfp865 |
G |
T |
7: 5,034,086 (GRCm39) |
K690N |
probably damaging |
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 |
|
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 |
|
R7786:Oplah
|
UTSW |
15 |
76,193,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- TTCCCGAAAGACCAGCTCTC -3'
(R):5'- TCACATCTCAGCGAGTCGTG -3'
Sequencing Primer
(F):5'- AGACCAGCTCTCGGACTACG -3'
(R):5'- CAGCGAGTCGTGGATGTCATC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation