Incidental Mutation 'IGL02720:Aass'
| ID |
304950 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02720
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 23122702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
[ENSMUST00000149864]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000031707
AA Change: P7L
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: P7L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138063
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149864
|
| SMART Domains |
Protein: ENSMUSP00000115079
Gene: ENSMUSG00000029695
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Saccharop_dh
|
73 |
209 |
8.2e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152280
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,726,991 (GRCm39) |
S454P |
probably damaging |
Het |
| Adh4 |
A |
T |
3: 138,124,981 (GRCm39) |
I51F |
possibly damaging |
Het |
| Amigo2 |
A |
T |
15: 97,143,578 (GRCm39) |
C281* |
probably null |
Het |
| Btn2a2 |
C |
T |
13: 23,664,637 (GRCm39) |
R307Q |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,090,307 (GRCm39) |
I483M |
probably damaging |
Het |
| Capn9 |
T |
C |
8: 125,327,236 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,744,867 (GRCm39) |
K1279E |
probably damaging |
Het |
| Cdadc1 |
T |
C |
14: 59,823,496 (GRCm39) |
Y332C |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cep112 |
T |
G |
11: 108,750,177 (GRCm39) |
F893L |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,133,511 (GRCm39) |
S1867G |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,762,721 (GRCm39) |
|
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,292,368 (GRCm39) |
|
probably benign |
Het |
| Dlx3 |
G |
T |
11: 95,014,470 (GRCm39) |
W251L |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,177 (GRCm39) |
V3993M |
probably damaging |
Het |
| Efs |
A |
T |
14: 55,157,172 (GRCm39) |
Y380N |
probably damaging |
Het |
| Fam53c |
T |
A |
18: 34,903,720 (GRCm39) |
W331R |
probably damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,990 (GRCm39) |
E331G |
probably damaging |
Het |
| Gstcd |
A |
G |
3: 132,777,722 (GRCm39) |
V363A |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,021,647 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
A |
G |
8: 95,834,993 (GRCm39) |
V264A |
probably benign |
Het |
| Mapk8ip2 |
A |
G |
15: 89,341,785 (GRCm39) |
D332G |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,323,146 (GRCm39) |
E2075K |
probably damaging |
Het |
| Opn5 |
T |
G |
17: 42,907,517 (GRCm39) |
S120R |
probably damaging |
Het |
| Or52m2 |
C |
T |
7: 102,264,046 (GRCm39) |
G50E |
probably damaging |
Het |
| Paqr8 |
C |
T |
1: 21,005,733 (GRCm39) |
Q296* |
probably null |
Het |
| Pcsk6 |
C |
T |
7: 65,629,995 (GRCm39) |
R374* |
probably null |
Het |
| Pld1 |
A |
G |
3: 28,141,411 (GRCm39) |
H469R |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,041,349 (GRCm39) |
S93P |
possibly damaging |
Het |
| Reln |
C |
T |
5: 22,202,939 (GRCm39) |
R1287Q |
probably damaging |
Het |
| Rev3l |
C |
T |
10: 39,698,391 (GRCm39) |
R963* |
probably null |
Het |
| Serinc4 |
C |
T |
2: 121,282,908 (GRCm39) |
S418N |
probably benign |
Het |
| Slc6a18 |
A |
G |
13: 73,818,087 (GRCm39) |
M310T |
probably benign |
Het |
| Slitrk3 |
T |
A |
3: 72,958,101 (GRCm39) |
S224C |
probably damaging |
Het |
| Slu7 |
T |
C |
11: 43,336,030 (GRCm39) |
I471T |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,665,105 (GRCm39) |
|
probably null |
Het |
| Tm7sf3 |
A |
T |
6: 146,514,872 (GRCm39) |
|
probably benign |
Het |
| Trem1 |
C |
T |
17: 48,539,869 (GRCm39) |
S16L |
probably benign |
Het |
| Trp53bp2 |
T |
A |
1: 182,281,289 (GRCm39) |
D963E |
probably benign |
Het |
| Trp63 |
A |
T |
16: 25,682,491 (GRCm39) |
D184V |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,042,899 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
G |
11: 84,897,817 (GRCm39) |
|
probably null |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,305 (GRCm39) |
N89K |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,914 (GRCm39) |
R688G |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,525,296 (GRCm39) |
H318L |
probably damaging |
Het |
| Vstm4 |
A |
G |
14: 32,585,574 (GRCm39) |
H47R |
probably damaging |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
| Ybx2 |
T |
A |
11: 69,831,157 (GRCm39) |
S56T |
probably benign |
Het |
| Ybx2 |
C |
A |
11: 69,831,158 (GRCm39) |
S251Y |
probably benign |
Het |
| Zbtb3 |
T |
C |
19: 8,781,578 (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 |
|
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 |
|
R0152:Aass
|
UTSW |
6 |
23,074,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation