Incidental Mutation 'R5594:Oplah'
| ID |
437732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oplah
|
| Ensembl Gene |
ENSMUSG00000022562 |
| Gene Name |
5-oxoprolinase (ATP-hydrolysing) |
| Synonyms |
|
| MMRRC Submission |
043146-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76180801-76212215 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to C
at 76180837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glycine
at position 1289
(*1289G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023222]
[ENSMUST00000074173]
[ENSMUST00000163991]
[ENSMUST00000164189]
[ENSMUST00000171340]
[ENSMUST00000230221]
[ENSMUST00000171192]
|
| AlphaFold |
Q8K010 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023222
AA Change: *1289G
|
| SMART Domains |
Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: *1289G
| 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 |
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: ENSMUST00000167433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170261
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171340
AA Change: *1289G
|
| SMART Domains |
Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: *1289G
| 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: ENSMUST00000169664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170063
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230735
|
| Meta Mutation Damage Score |
0.8846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (80/80) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
C |
T |
11: 3,888,027 (GRCm39) |
V120I |
unknown |
Het |
| 4931414P19Rik |
A |
G |
14: 54,822,441 (GRCm39) |
Y399H |
probably damaging |
Het |
| Abca9 |
G |
T |
11: 110,035,688 (GRCm39) |
P644Q |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,412,946 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,062,880 (GRCm39) |
|
probably null |
Het |
| Ankdd1a |
T |
C |
9: 65,409,523 (GRCm39) |
N471S |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,076,000 (GRCm39) |
T1345A |
probably benign |
Het |
| Arhgef40 |
T |
A |
14: 52,233,614 (GRCm39) |
L820H |
probably damaging |
Het |
| Atp2b4 |
A |
G |
1: 133,658,248 (GRCm39) |
V554A |
probably damaging |
Het |
| Birc7 |
G |
A |
2: 180,575,129 (GRCm39) |
|
probably null |
Het |
| Ccdc80 |
C |
T |
16: 44,936,626 (GRCm39) |
R684C |
probably benign |
Het |
| Cdc25b |
C |
A |
2: 131,033,538 (GRCm39) |
P159Q |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,841,252 (GRCm39) |
D647E |
probably benign |
Het |
| Chek2 |
G |
T |
5: 111,003,700 (GRCm39) |
|
probably null |
Het |
| Chil6 |
C |
T |
3: 106,301,745 (GRCm39) |
|
probably null |
Het |
| Cr2 |
A |
G |
1: 194,839,498 (GRCm39) |
I643T |
probably damaging |
Het |
| Cwf19l2 |
C |
A |
9: 3,418,773 (GRCm39) |
Q187K |
probably benign |
Het |
| Cyth4 |
A |
G |
15: 78,491,275 (GRCm39) |
|
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,058,834 (GRCm39) |
T268A |
possibly damaging |
Het |
| Dnah17 |
G |
T |
11: 117,934,055 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,570,844 (GRCm39) |
Y2210C |
possibly damaging |
Het |
| Elmod3 |
G |
A |
6: 72,571,799 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
A |
6: 97,092,996 (GRCm39) |
T394S |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,968,317 (GRCm39) |
V182A |
possibly damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,223 (GRCm39) |
I315T |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,728,629 (GRCm39) |
N76S |
probably damaging |
Het |
| Gcc2 |
G |
T |
10: 58,123,064 (GRCm39) |
R1190M |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,301,546 (GRCm39) |
S450P |
probably damaging |
Het |
| Glg1 |
G |
A |
8: 111,914,513 (GRCm39) |
R424C |
probably damaging |
Het |
| Gm11543 |
T |
A |
11: 94,719,380 (GRCm39) |
|
noncoding transcript |
Het |
| Hhip |
G |
T |
8: 80,723,492 (GRCm39) |
D387E |
probably damaging |
Het |
| Hif1a |
T |
A |
12: 73,984,566 (GRCm39) |
Y46* |
probably null |
Het |
| Hivep3 |
G |
T |
4: 119,980,245 (GRCm39) |
|
probably null |
Het |
| Kif13a |
T |
A |
13: 46,906,338 (GRCm39) |
E535V |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,734,554 (GRCm39) |
Y15H |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,933,982 (GRCm39) |
V3560E |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,593,755 (GRCm39) |
F613L |
probably damaging |
Het |
| Misp |
G |
A |
10: 79,662,977 (GRCm39) |
V465M |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Ms4a6c |
T |
A |
19: 11,455,537 (GRCm39) |
D115E |
probably benign |
Het |
| Msh6 |
A |
G |
17: 88,293,497 (GRCm39) |
T751A |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,101,647 (GRCm39) |
T429S |
probably benign |
Het |
| Or14j7 |
T |
A |
17: 38,234,502 (GRCm39) |
M15K |
probably benign |
Het |
| Or7e166 |
T |
C |
9: 19,624,302 (GRCm39) |
Y60H |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhga6 |
A |
T |
18: 37,841,581 (GRCm39) |
T434S |
probably benign |
Het |
| Pign |
A |
G |
1: 105,574,594 (GRCm39) |
|
probably benign |
Het |
| Poteg |
A |
T |
8: 27,937,996 (GRCm39) |
I51F |
probably benign |
Het |
| Prrc2c |
C |
A |
1: 162,526,600 (GRCm39) |
V204F |
unknown |
Het |
| Rhbdd3 |
T |
C |
11: 5,055,710 (GRCm39) |
S325P |
probably damaging |
Het |
| Rit1 |
T |
A |
3: 88,636,444 (GRCm39) |
L116Q |
probably damaging |
Het |
| Rpl22 |
T |
A |
4: 152,410,259 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,108,560 (GRCm39) |
E1588G |
possibly damaging |
Het |
| Sardh |
A |
G |
2: 27,110,735 (GRCm39) |
F577S |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,933,258 (GRCm39) |
D105E |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,489,240 (GRCm39) |
D215V |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,693,768 (GRCm39) |
P438T |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Stk19 |
C |
T |
17: 35,039,538 (GRCm39) |
|
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,725,829 (GRCm39) |
I143T |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,067,339 (GRCm39) |
H2232R |
possibly damaging |
Het |
| Trmt9b |
A |
G |
8: 36,979,452 (GRCm39) |
T352A |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,066,579 (GRCm39) |
I358T |
probably benign |
Het |
| Tuba8 |
A |
G |
6: 121,202,863 (GRCm39) |
D392G |
possibly damaging |
Het |
| Vmn1r1 |
G |
A |
1: 181,984,972 (GRCm39) |
P231L |
probably damaging |
Het |
| Zfp330 |
A |
G |
8: 83,493,941 (GRCm39) |
W107R |
probably damaging |
Het |
| Zfp715 |
T |
A |
7: 42,949,116 (GRCm39) |
Q281H |
possibly damaging |
Het |
| Zfp9 |
T |
C |
6: 118,442,000 (GRCm39) |
T221A |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,007,420 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- ACCTCTCAACTTGACACCTG -3'
(R):5'- GGACGCAACCTGTGTTAAAAC -3'
Sequencing Primer
(F):5'- AGGTGACATTCAGTACTGCC -3'
(R):5'- ACGCAACCTGTGTTAAAACTTGCTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation