Incidental Mutation 'IGL02167:Aass'
| ID |
282754 |
| 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 # |
IGL02167
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 23122721 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: M1L
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: M1L
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1f |
T |
C |
X: 7,482,258 (GRCm39) |
Y581H |
probably damaging |
Het |
| Camsap1 |
C |
T |
2: 25,824,312 (GRCm39) |
R1416H |
probably damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,481,333 (GRCm39) |
E266G |
possibly damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,018,284 (GRCm39) |
L8* |
probably null |
Het |
| Cited2 |
T |
C |
10: 17,600,018 (GRCm39) |
S109P |
probably benign |
Het |
| Cnot4 |
T |
C |
6: 35,033,159 (GRCm39) |
D286G |
possibly damaging |
Het |
| Col5a1 |
T |
C |
2: 27,908,568 (GRCm39) |
I52T |
probably benign |
Het |
| Cry2 |
T |
C |
2: 92,264,166 (GRCm39) |
N68S |
possibly damaging |
Het |
| Cul4a |
T |
C |
8: 13,172,826 (GRCm39) |
F153S |
probably damaging |
Het |
| Ddr1 |
T |
C |
17: 36,000,963 (GRCm39) |
S261G |
possibly damaging |
Het |
| Depdc5 |
G |
A |
5: 33,061,145 (GRCm39) |
R324Q |
probably damaging |
Het |
| Dmgdh |
A |
G |
13: 93,857,135 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,658,405 (GRCm39) |
M990K |
probably damaging |
Het |
| Gpr137c |
G |
T |
14: 45,517,412 (GRCm39) |
G383C |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,145,055 (GRCm39) |
I802N |
possibly damaging |
Het |
| Ifne |
A |
G |
4: 88,798,065 (GRCm39) |
Y118H |
possibly damaging |
Het |
| Kansl2 |
T |
C |
15: 98,431,396 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
T |
A |
8: 10,021,821 (GRCm39) |
N653I |
probably benign |
Het |
| Nagk |
A |
G |
6: 83,778,088 (GRCm39) |
D246G |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,398,699 (GRCm39) |
S628P |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,912,056 (GRCm39) |
Y1401C |
probably damaging |
Het |
| Ndufa9 |
A |
G |
6: 126,821,748 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
G |
T |
14: 56,100,792 (GRCm39) |
R194L |
probably damaging |
Het |
| Or10a4 |
A |
T |
7: 106,696,868 (GRCm39) |
R65S |
probably benign |
Het |
| Or10ag53 |
G |
A |
2: 87,082,542 (GRCm39) |
C87Y |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,271,664 (GRCm39) |
V282D |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,522,798 (GRCm39) |
|
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,259,342 (GRCm39) |
R288S |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,338,045 (GRCm39) |
S450P |
probably damaging |
Het |
| Prkcg |
T |
C |
7: 3,371,097 (GRCm39) |
|
probably null |
Het |
| Prox1 |
T |
C |
1: 189,893,477 (GRCm39) |
N323D |
probably benign |
Het |
| Prrt1 |
A |
C |
17: 34,850,829 (GRCm39) |
E215A |
possibly damaging |
Het |
| Rab2b |
T |
C |
14: 52,506,153 (GRCm39) |
D103G |
probably damaging |
Het |
| Sardh |
G |
T |
2: 27,081,987 (GRCm39) |
N846K |
probably damaging |
Het |
| Slc38a8 |
T |
A |
8: 120,214,099 (GRCm39) |
T248S |
probably benign |
Het |
| Slc6a18 |
T |
C |
13: 73,814,591 (GRCm39) |
|
probably null |
Het |
| Smcp |
T |
C |
3: 92,491,506 (GRCm39) |
T114A |
unknown |
Het |
| Trpv1 |
A |
G |
11: 73,145,623 (GRCm39) |
N754D |
probably damaging |
Het |
| Txnrd1 |
A |
T |
10: 82,717,745 (GRCm39) |
H243L |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,109,023 (GRCm39) |
M125V |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,224,601 (GRCm39) |
|
probably null |
Het |
| Wrn |
T |
C |
8: 33,807,583 (GRCm39) |
M292V |
probably damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,189,140 (GRCm39) |
L20P |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,121,296 (GRCm39) |
H97R |
probably damaging |
Het |
| Zfp68 |
T |
A |
5: 138,604,629 (GRCm39) |
M565L |
probably benign |
Het |
| Zfp687 |
T |
C |
3: 94,917,841 (GRCm39) |
T644A |
probably benign |
Het |
| Zfp777 |
C |
T |
6: 48,021,460 (GRCm39) |
G54D |
probably damaging |
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 |
|
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 |
|
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