Incidental Mutation 'R5393:Aldh18a1'
| ID |
425994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh18a1
|
| Ensembl Gene |
ENSMUSG00000025007 |
| Gene Name |
aldehyde dehydrogenase 18 family, member A1 |
| Synonyms |
2810433K04Rik, Pycs |
| MMRRC Submission |
042965-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
40538701-40576907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40574011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 4
(H4R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025979]
[ENSMUST00000149476]
[ENSMUST00000175932]
[ENSMUST00000176939]
[ENSMUST00000176955]
|
| AlphaFold |
Q9Z110 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025979
AA Change: H4R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025979
Gene: ENSMUSG00000025007
AA Change: H4R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_kinase
|
71 |
329 |
1e-41 |
PFAM |
|
Pfam:Aldedh
|
350 |
659 |
3.9e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149476
AA Change: H4R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000115429
Gene: ENSMUSG00000025007
AA Change: H4R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_kinase
|
71 |
173 |
3.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176939
AA Change: H4R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135426
Gene: ENSMUSG00000025007
AA Change: H4R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_kinase
|
71 |
327 |
1.9e-39 |
PFAM |
|
Pfam:Aldedh
|
351 |
665 |
3.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176955
|
| SMART Domains |
Protein: ENSMUSP00000135759
Gene: ENSMUSG00000025007
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4Q1T|D
|
1 |
83 |
1e-5 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181109
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (72/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110025L11Rik |
A |
T |
16: 88,860,653 (GRCm39) |
Y60* |
probably null |
Het |
| Abca6 |
T |
A |
11: 110,135,121 (GRCm39) |
E221D |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adi1 |
A |
G |
12: 28,725,274 (GRCm39) |
D8G |
probably benign |
Het |
| Adnp |
T |
C |
2: 168,024,869 (GRCm39) |
K809E |
possibly damaging |
Het |
| Atp6v0a1 |
T |
C |
11: 100,929,633 (GRCm39) |
S485P |
possibly damaging |
Het |
| C1galt1 |
T |
C |
6: 7,864,143 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,216,015 (GRCm39) |
N94I |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,924 (GRCm39) |
N899S |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,067,997 (GRCm39) |
T463A |
probably benign |
Het |
| Coro2a |
A |
G |
4: 46,542,255 (GRCm39) |
S373P |
probably damaging |
Het |
| Cpsf6 |
G |
C |
10: 117,197,921 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,497,099 (GRCm39) |
N3099K |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,946 (GRCm39) |
E74D |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,391,683 (GRCm39) |
T671S |
probably benign |
Het |
| Drd5 |
T |
A |
5: 38,478,248 (GRCm39) |
S414T |
probably benign |
Het |
| Dyrk2 |
C |
T |
10: 118,695,753 (GRCm39) |
D502N |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,080,598 (GRCm39) |
L376Q |
possibly damaging |
Het |
| Efcab8 |
G |
A |
2: 153,622,903 (GRCm39) |
R24Q |
unknown |
Het |
| Eloc |
A |
C |
1: 16,718,192 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,515,819 (GRCm39) |
|
probably benign |
Het |
| Fam89b |
T |
C |
19: 5,778,733 (GRCm39) |
D152G |
probably damaging |
Het |
| Gm15455 |
G |
A |
1: 33,875,927 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
A |
G |
18: 10,458,312 (GRCm39) |
T30A |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,010,887 (GRCm39) |
Y238C |
probably damaging |
Het |
| Ighv2-5 |
T |
C |
12: 113,649,502 (GRCm39) |
T12A |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,718,007 (GRCm39) |
|
probably null |
Het |
| Irf9 |
T |
C |
14: 55,843,914 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,277,653 (GRCm39) |
C280* |
probably null |
Het |
| Kcnk18 |
T |
C |
19: 59,208,271 (GRCm39) |
C36R |
probably damaging |
Het |
| Khdc4 |
T |
A |
3: 88,603,913 (GRCm39) |
H243Q |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,785,051 (GRCm39) |
N125K |
probably benign |
Het |
| Lce1i |
T |
C |
3: 92,685,042 (GRCm39) |
S45G |
unknown |
Het |
| Lrmda |
A |
C |
14: 22,077,374 (GRCm39) |
D37A |
probably damaging |
Het |
| Marco |
A |
C |
1: 120,413,583 (GRCm39) |
D280E |
probably damaging |
Het |
| Meak7 |
T |
C |
8: 120,499,157 (GRCm39) |
I112V |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,450 (GRCm39) |
Q180* |
probably null |
Het |
| Npdc1 |
A |
T |
2: 25,298,682 (GRCm39) |
M265L |
probably damaging |
Het |
| Nudcd3 |
T |
C |
11: 6,063,274 (GRCm39) |
K205R |
probably damaging |
Het |
| Or2ak6 |
T |
A |
11: 58,593,326 (GRCm39) |
H266Q |
probably damaging |
Het |
| Or2t46 |
C |
G |
11: 58,471,825 (GRCm39) |
L52V |
possibly damaging |
Het |
| Pcdhga5 |
C |
T |
18: 37,829,720 (GRCm39) |
R723C |
probably benign |
Het |
| Pdlim5 |
T |
A |
3: 141,964,947 (GRCm39) |
E295D |
probably damaging |
Het |
| Poli |
C |
A |
18: 70,650,499 (GRCm39) |
E314* |
probably null |
Het |
| Ptpro |
A |
G |
6: 137,357,222 (GRCm39) |
N238D |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,159,084 (GRCm39) |
I920V |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,187,375 (GRCm39) |
V1338M |
probably damaging |
Het |
| Saa3 |
T |
C |
7: 46,362,085 (GRCm39) |
Y53C |
probably damaging |
Het |
| Septin14 |
T |
A |
5: 129,760,650 (GRCm39) |
E398D |
probably benign |
Het |
| Six3 |
T |
C |
17: 85,931,270 (GRCm39) |
S309P |
possibly damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,311,919 (GRCm39) |
S34P |
probably damaging |
Het |
| Smarca2 |
C |
A |
19: 26,617,829 (GRCm39) |
Q287K |
probably benign |
Het |
| Stard9 |
C |
T |
2: 120,533,387 (GRCm39) |
L522F |
possibly damaging |
Het |
| Sycp1 |
T |
C |
3: 102,748,363 (GRCm39) |
|
probably null |
Het |
| Tbc1d8 |
A |
T |
1: 39,465,169 (GRCm39) |
V73E |
probably damaging |
Het |
| Tmem120a |
T |
C |
5: 135,765,104 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,819,370 (GRCm39) |
E1251G |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnt5b |
A |
C |
6: 119,417,394 (GRCm39) |
L157R |
probably damaging |
Het |
| Zbtb24 |
T |
A |
10: 41,340,578 (GRCm39) |
V536E |
probably damaging |
Het |
| Zfp593 |
G |
A |
4: 133,972,615 (GRCm39) |
A67V |
probably benign |
Het |
| Zfp995 |
A |
T |
17: 22,099,473 (GRCm39) |
F254I |
probably benign |
Het |
|
| Other mutations in Aldh18a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01020:Aldh18a1
|
APN |
19 |
40,557,625 (GRCm39) |
splice site |
probably benign |
|
|
IGL02353:Aldh18a1
|
APN |
19 |
40,566,364 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02360:Aldh18a1
|
APN |
19 |
40,566,364 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02974:Aldh18a1
|
APN |
19 |
40,557,528 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03295:Aldh18a1
|
APN |
19 |
40,551,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4498001:Aldh18a1
|
UTSW |
19 |
40,562,800 (GRCm39) |
missense |
probably benign |
|
|
R0267:Aldh18a1
|
UTSW |
19 |
40,562,233 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0498:Aldh18a1
|
UTSW |
19 |
40,562,716 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1140:Aldh18a1
|
UTSW |
19 |
40,562,729 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1142:Aldh18a1
|
UTSW |
19 |
40,539,657 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1509:Aldh18a1
|
UTSW |
19 |
40,545,927 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1640:Aldh18a1
|
UTSW |
19 |
40,573,943 (GRCm39) |
missense |
probably benign |
|
|
R1721:Aldh18a1
|
UTSW |
19 |
40,553,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3012:Aldh18a1
|
UTSW |
19 |
40,546,135 (GRCm39) |
nonsense |
probably null |
|
|
R3085:Aldh18a1
|
UTSW |
19 |
40,562,813 (GRCm39) |
missense |
probably benign |
|
|
R3815:Aldh18a1
|
UTSW |
19 |
40,558,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3863:Aldh18a1
|
UTSW |
19 |
40,539,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4156:Aldh18a1
|
UTSW |
19 |
40,539,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5116:Aldh18a1
|
UTSW |
19 |
40,541,949 (GRCm39) |
missense |
probably benign |
|
|
R5135:Aldh18a1
|
UTSW |
19 |
40,543,261 (GRCm39) |
intron |
probably benign |
|
|
R5492:Aldh18a1
|
UTSW |
19 |
40,539,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Aldh18a1
|
UTSW |
19 |
40,539,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5494:Aldh18a1
|
UTSW |
19 |
40,539,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Aldh18a1
|
UTSW |
19 |
40,558,981 (GRCm39) |
nonsense |
probably null |
|
|
R6255:Aldh18a1
|
UTSW |
19 |
40,568,487 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6320:Aldh18a1
|
UTSW |
19 |
40,559,005 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6358:Aldh18a1
|
UTSW |
19 |
40,566,122 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6379:Aldh18a1
|
UTSW |
19 |
40,566,214 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6785:Aldh18a1
|
UTSW |
19 |
40,556,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Aldh18a1
|
UTSW |
19 |
40,539,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Aldh18a1
|
UTSW |
19 |
40,553,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Aldh18a1
|
UTSW |
19 |
40,562,226 (GRCm39) |
nonsense |
probably null |
|
|
R7960:Aldh18a1
|
UTSW |
19 |
40,546,264 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8152:Aldh18a1
|
UTSW |
19 |
40,553,456 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8179:Aldh18a1
|
UTSW |
19 |
40,545,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Aldh18a1
|
UTSW |
19 |
40,545,881 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8222:Aldh18a1
|
UTSW |
19 |
40,562,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8787:Aldh18a1
|
UTSW |
19 |
40,546,230 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAGCTTCCTATATACTTCTACC -3'
(R):5'- CCTGTGACACTGAGGAAGTAG -3'
Sequencing Primer
(F):5'- CACACTACATCTTTTTCCAAAACCTG -3'
(R):5'- GTGACACTGAGGAAGTAGTTTCTAAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation