Incidental Mutation 'R9067:Aass'
| ID |
689308 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R9067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23077123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 745
(R745S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031707
AA Change: R745S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: R745S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
G |
2: 19,522,493 (GRCm39) |
D202A |
probably damaging |
Het |
| Adamts14 |
C |
T |
10: 61,085,439 (GRCm39) |
R195H |
possibly damaging |
Het |
| Afm |
T |
C |
5: 90,671,674 (GRCm39) |
F119L |
probably benign |
Het |
| Alox5ap |
T |
A |
5: 149,222,190 (GRCm39) |
V93E |
probably damaging |
Het |
| Ascl3 |
G |
A |
7: 109,327,104 (GRCm39) |
P72S |
probably benign |
Het |
| Cacnb1 |
C |
A |
11: 97,896,131 (GRCm39) |
D386Y |
probably damaging |
Het |
| Ccdc121rt3 |
T |
G |
5: 112,502,706 (GRCm39) |
I333L |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,485 (GRCm39) |
E2786G |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,951,107 (GRCm39) |
K227N |
possibly damaging |
Het |
| Cyp4f13 |
C |
G |
17: 33,143,801 (GRCm39) |
E508Q |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,116,186 (GRCm39) |
L843Q |
probably damaging |
Het |
| Elk4 |
T |
G |
1: 131,942,143 (GRCm39) |
I5S |
possibly damaging |
Het |
| Erc1 |
A |
T |
6: 119,774,036 (GRCm39) |
D306E |
possibly damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
| Gdf2 |
A |
T |
14: 33,663,411 (GRCm39) |
T102S |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,302,922 (GRCm39) |
N586S |
probably damaging |
Het |
| Gm45861 |
T |
A |
8: 27,995,043 (GRCm39) |
S472T |
unknown |
Het |
| Gm5800 |
G |
A |
14: 51,951,995 (GRCm39) |
A89V |
possibly damaging |
Het |
| Gpalpp1 |
A |
G |
14: 76,344,792 (GRCm39) |
S64P |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,400 (GRCm39) |
V63A |
probably damaging |
Het |
| Htr7 |
A |
G |
19: 36,034,490 (GRCm39) |
V55A |
probably benign |
Het |
| Ica1 |
T |
A |
6: 8,667,362 (GRCm39) |
D268V |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,678,730 (GRCm39) |
E956G |
probably damaging |
Het |
| Itprid2 |
G |
A |
2: 79,475,180 (GRCm39) |
E380K |
probably benign |
Het |
| Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
| Kdr |
T |
C |
5: 76,109,428 (GRCm39) |
D983G |
probably damaging |
Het |
| Klhl23 |
C |
G |
2: 69,664,083 (GRCm39) |
I477M |
possibly damaging |
Het |
| Kpna2 |
G |
T |
11: 106,882,039 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lrrc17 |
G |
A |
5: 21,766,033 (GRCm39) |
E172K |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,606,649 (GRCm39) |
I184F |
possibly damaging |
Het |
| Med11 |
A |
G |
11: 70,342,910 (GRCm39) |
T36A |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,252,133 (GRCm39) |
D423G |
probably benign |
Het |
| Ndfip2 |
A |
G |
14: 105,525,157 (GRCm39) |
D146G |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,094,536 (GRCm39) |
I926V |
probably benign |
Het |
| Paqr6 |
T |
A |
3: 88,273,328 (GRCm39) |
S107T |
probably damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,201,291 (GRCm39) |
S459N |
probably null |
Het |
| Pld5 |
T |
A |
1: 175,917,474 (GRCm39) |
H153L |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,263,244 (GRCm39) |
R788G |
possibly damaging |
Het |
| Smok2a |
A |
C |
17: 13,445,825 (GRCm39) |
R467S |
probably damaging |
Het |
| Sncaip |
A |
C |
18: 53,039,973 (GRCm39) |
K722N |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,989,214 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 75,950,994 (GRCm39) |
W382R |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,561,407 (GRCm39) |
V1324A |
probably damaging |
Het |
| Tmem120b |
A |
T |
5: 123,236,307 (GRCm39) |
I47F |
probably damaging |
Het |
| Tubg2 |
G |
A |
11: 101,049,957 (GRCm39) |
C201Y |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,192,677 (GRCm39) |
E268G |
probably damaging |
Het |
| Zfyve26 |
T |
G |
12: 79,318,915 (GRCm39) |
D1141A |
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 |
|
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 |
|
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 |
|
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'- AGGAGATAGTCACCAGAACTCATC -3'
(R):5'- TTGATCCCATTTCACCACTGAAG -3'
Sequencing Primer
(F):5'- TCATCAACATACAGCAGCTAGAG -3'
(R):5'- CCATTTCACCACTGAAGGTTATTAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation