Incidental Mutation 'R0152:Aass'
| ID |
22776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
038435-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0152 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23074688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 834
(D834G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031707
AA Change: D834G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: D834G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
AlaDh_PNT_N
|
27 |
157 |
2.76e-22 |
SMART |
|
AlaDh_PNT_C
|
197 |
399 |
7.94e-23 |
SMART |
|
Pfam:Sacchrp_dh_NADP
|
483 |
598 |
2.8e-26 |
PFAM |
|
Pfam:Sacchrp_dh_C
|
602 |
916 |
1.2e-88 |
PFAM |
|
| Meta Mutation Damage Score |
0.9483 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
87% (40/46) |
| MGI Phenotype |
FUNCTION: This gene encodes a bifunctional mitochondrial protein that catalyzes the first two steps in the lysine degradation pathway. The N-terminus contains lysine-ketoglutarate reductase activity and converts lysine to saccharopine, whereas the C-terminus contains saccharopine dehydrogenase activity and converts saccharopine to alpha-aminoadipate semialdehyde. Mutations in a human gene encoding a highly similar protein are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(10) : Targeted(2) Gene trapped(8)
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,531,724 (GRCm39) |
H4650Q |
probably damaging |
Het |
| Aqr |
T |
A |
2: 113,989,491 (GRCm39) |
T111S |
probably benign |
Het |
| Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
| Arhgap44 |
G |
T |
11: 64,902,745 (GRCm39) |
A574E |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
| Car5a |
T |
A |
8: 122,643,185 (GRCm39) |
N273I |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,844,709 (GRCm39) |
Q359* |
probably null |
Het |
| Cgrrf1 |
G |
A |
14: 47,091,370 (GRCm39) |
C298Y |
probably damaging |
Het |
| Clip3 |
G |
A |
7: 30,002,857 (GRCm39) |
A416T |
probably benign |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eif3e |
G |
A |
15: 43,115,632 (GRCm39) |
A378V |
possibly damaging |
Het |
| Ercc6 |
C |
G |
14: 32,268,862 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
A |
G |
7: 119,389,606 (GRCm39) |
V104A |
probably damaging |
Het |
| Exph5 |
T |
A |
9: 53,264,504 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,539,630 (GRCm39) |
Y2954N |
probably benign |
Het |
| Itga2 |
C |
T |
13: 115,002,850 (GRCm39) |
G547R |
probably benign |
Het |
| Kbtbd11 |
T |
C |
8: 15,077,428 (GRCm39) |
V9A |
probably damaging |
Het |
| Ldb2 |
T |
C |
5: 44,699,141 (GRCm39) |
D99G |
possibly damaging |
Het |
| Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
| Mgarp |
T |
C |
3: 51,296,384 (GRCm39) |
D228G |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,272,605 (GRCm39) |
L1441Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,943,402 (GRCm39) |
D4810G |
probably benign |
Het |
| Or10ak9 |
T |
A |
4: 118,726,083 (GRCm39) |
I34N |
possibly damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,719 (GRCm39) |
Y283F |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,472 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
| Pdpk1 |
C |
T |
17: 24,325,920 (GRCm39) |
R92H |
possibly damaging |
Het |
| Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
| Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,579,497 (GRCm39) |
I588M |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,781,964 (GRCm39) |
T398A |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Tub |
A |
T |
7: 108,620,134 (GRCm39) |
N93Y |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,447,432 (GRCm39) |
T181A |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,970,919 (GRCm39) |
L637P |
probably damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,568,333 (GRCm39) |
Y917C |
probably damaging |
Het |
| Zfp68 |
T |
C |
5: 138,604,875 (GRCm39) |
K445E |
probably damaging |
Het |
| Zmynd10 |
A |
G |
9: 107,428,144 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Aass |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Aass
|
APN |
6 |
23,075,851 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01465:Aass
|
APN |
6 |
23,114,838 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01617:Aass
|
APN |
6 |
23,115,149 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01810:Aass
|
APN |
6 |
23,107,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02024:Aass
|
APN |
6 |
23,113,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02167:Aass
|
APN |
6 |
23,122,721 (GRCm39) |
intron |
probably benign |
|
|
IGL02339:Aass
|
APN |
6 |
23,093,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02720:Aass
|
APN |
6 |
23,122,702 (GRCm39) |
intron |
probably benign |
|
|
IGL02877:Aass
|
APN |
6 |
23,078,875 (GRCm39) |
nonsense |
probably null |
|
|
IGL02948:Aass
|
APN |
6 |
23,094,318 (GRCm39) |
splice site |
probably benign |
|
|
PIT4651001:Aass
|
UTSW |
6 |
23,118,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0196:Aass
|
UTSW |
6 |
23,109,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Aass
|
UTSW |
6 |
23,077,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0841:Aass
|
UTSW |
6 |
23,075,810 (GRCm39) |
missense |
probably benign |
|
|
R0848:Aass
|
UTSW |
6 |
23,114,984 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0942:Aass
|
UTSW |
6 |
23,075,151 (GRCm39) |
splice site |
probably benign |
|
|
R1082:Aass
|
UTSW |
6 |
23,093,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1159:Aass
|
UTSW |
6 |
23,115,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1730:Aass
|
UTSW |
6 |
23,121,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Aass
|
UTSW |
6 |
23,075,857 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1906:Aass
|
UTSW |
6 |
23,072,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2004:Aass
|
UTSW |
6 |
23,092,561 (GRCm39) |
nonsense |
probably null |
|
|
R2191:Aass
|
UTSW |
6 |
23,078,865 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3690:Aass
|
UTSW |
6 |
23,091,328 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3843:Aass
|
UTSW |
6 |
23,092,495 (GRCm39) |
nonsense |
probably null |
|
|
R3879:Aass
|
UTSW |
6 |
23,122,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Aass
|
UTSW |
6 |
23,109,497 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4081:Aass
|
UTSW |
6 |
23,109,497 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4082:Aass
|
UTSW |
6 |
23,109,497 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4348:Aass
|
UTSW |
6 |
23,113,738 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4622:Aass
|
UTSW |
6 |
23,092,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Aass
|
UTSW |
6 |
23,075,855 (GRCm39) |
nonsense |
probably null |
|
|
R4823:Aass
|
UTSW |
6 |
23,107,690 (GRCm39) |
missense |
probably benign |
|
|
R5108:Aass
|
UTSW |
6 |
23,094,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5248:Aass
|
UTSW |
6 |
23,109,437 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5481:Aass
|
UTSW |
6 |
23,113,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5776:Aass
|
UTSW |
6 |
23,107,649 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5883:Aass
|
UTSW |
6 |
23,072,993 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6356:Aass
|
UTSW |
6 |
23,093,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Aass
|
UTSW |
6 |
23,113,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6784:Aass
|
UTSW |
6 |
23,093,895 (GRCm39) |
missense |
probably null |
1.00 |
|
R6855:Aass
|
UTSW |
6 |
23,114,844 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7184:Aass
|
UTSW |
6 |
23,094,219 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7208:Aass
|
UTSW |
6 |
23,074,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7464:Aass
|
UTSW |
6 |
23,077,152 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7750:Aass
|
UTSW |
6 |
23,075,199 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7821:Aass
|
UTSW |
6 |
23,120,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8262:Aass
|
UTSW |
6 |
23,107,709 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8303:Aass
|
UTSW |
6 |
23,092,367 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8430:Aass
|
UTSW |
6 |
23,078,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8817:Aass
|
UTSW |
6 |
23,097,195 (GRCm39) |
nonsense |
probably null |
|
|
R8941:Aass
|
UTSW |
6 |
23,075,261 (GRCm39) |
splice site |
probably benign |
|
|
R9065:Aass
|
UTSW |
6 |
23,075,746 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9067:Aass
|
UTSW |
6 |
23,077,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9068:Aass
|
UTSW |
6 |
23,075,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9119:Aass
|
UTSW |
6 |
23,094,000 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9210:Aass
|
UTSW |
6 |
23,075,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9212:Aass
|
UTSW |
6 |
23,075,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9372:Aass
|
UTSW |
6 |
23,078,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Aass
|
UTSW |
6 |
23,113,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Aass
|
UTSW |
6 |
23,127,502 (GRCm39) |
missense |
unknown |
|
|
R9704:Aass
|
UTSW |
6 |
23,120,887 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Z1176:Aass
|
UTSW |
6 |
23,078,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCTGATGCGAATGGAACTTAC -3'
(R):5'- GTCTGCCAGAATAGCTTGTCACACC -3'
Sequencing Primer
(F):5'- TGCGAATGGAACTTACCATCAAG -3'
(R):5'- CCAAGCAGACTTTTCGATTCTGAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation