Incidental Mutation 'R8941:Aass'
| ID |
711138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
068781-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8941 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 23075261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031707
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,679 (GRCm39) |
T103S |
probably benign |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,784,400 (GRCm39) |
Y291C |
probably damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,133,235 (GRCm39) |
C1284S |
probably damaging |
Het |
| Adora2a |
G |
A |
10: 75,169,559 (GRCm39) |
W341* |
probably null |
Het |
| Afg2a |
T |
A |
3: 37,486,142 (GRCm39) |
L288H |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
| Asic5 |
A |
T |
3: 81,913,915 (GRCm39) |
|
probably benign |
Het |
| Canx |
T |
C |
11: 50,195,270 (GRCm39) |
D266G |
possibly damaging |
Het |
| Cfap57 |
A |
T |
4: 118,426,799 (GRCm39) |
Y1080N |
probably damaging |
Het |
| Chat |
C |
T |
14: 32,130,963 (GRCm39) |
M559I |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,463,305 (GRCm39) |
S1425N |
possibly damaging |
Het |
| Cog8 |
T |
C |
8: 107,783,202 (GRCm39) |
D29G |
probably damaging |
Het |
| Cox15 |
A |
G |
19: 43,732,172 (GRCm39) |
S215P |
probably benign |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,339,698 (GRCm39) |
V362A |
probably damaging |
Het |
| Dio1 |
C |
A |
4: 107,164,147 (GRCm39) |
A57S |
probably benign |
Het |
| F5 |
C |
A |
1: 164,026,440 (GRCm39) |
H1671N |
probably benign |
Het |
| Gm6309 |
A |
G |
5: 146,107,155 (GRCm39) |
Y64H |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,660,743 (GRCm39) |
C731R |
probably damaging |
Het |
| Hmgcl |
G |
A |
4: 135,683,015 (GRCm39) |
A156T |
probably damaging |
Het |
| Il15ra |
A |
T |
2: 11,737,995 (GRCm39) |
T210S |
possibly damaging |
Het |
| Kat8 |
T |
C |
7: 127,524,400 (GRCm39) |
L426P |
probably damaging |
Het |
| Lrrc39 |
G |
T |
3: 116,359,496 (GRCm39) |
V14L |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,919,671 (GRCm39) |
H398R |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,991,606 (GRCm39) |
Q1568L |
possibly damaging |
Het |
| Myo18b |
G |
A |
5: 113,022,795 (GRCm39) |
|
probably benign |
Het |
| Nr4a3 |
C |
A |
4: 48,051,756 (GRCm39) |
P170Q |
possibly damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,208,109 (GRCm39) |
M652V |
probably damaging |
Het |
| Or10n7-ps1 |
A |
T |
9: 39,597,812 (GRCm39) |
*143K |
probably null |
Het |
| Or5b95 |
G |
A |
19: 12,657,471 (GRCm39) |
|
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,832,815 (GRCm39) |
I325V |
possibly damaging |
Het |
| Pcare |
T |
C |
17: 72,059,137 (GRCm39) |
H180R |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,114,807 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,380 (GRCm39) |
S421P |
probably damaging |
Het |
| Pou6f1 |
T |
A |
15: 100,489,742 (GRCm39) |
D74V |
probably damaging |
Het |
| Prpsap2 |
C |
A |
11: 61,627,870 (GRCm39) |
R202L |
probably damaging |
Het |
| Ptprn |
A |
T |
1: 75,228,407 (GRCm39) |
L890Q |
probably damaging |
Het |
| Ramp1 |
C |
G |
1: 91,134,137 (GRCm39) |
P97A |
probably benign |
Het |
| Rapgefl1 |
A |
G |
11: 98,731,101 (GRCm39) |
D179G |
probably damaging |
Het |
| Rbp3 |
T |
A |
14: 33,678,486 (GRCm39) |
F811L |
possibly damaging |
Het |
| Rnf213 |
C |
A |
11: 119,305,250 (GRCm39) |
L494M |
probably damaging |
Het |
| Rpl4 |
A |
G |
9: 64,082,245 (GRCm39) |
N48S |
probably benign |
Het |
| Rsbn1l |
A |
G |
5: 21,110,841 (GRCm39) |
V499A |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,430,022 (GRCm39) |
T691A |
probably benign |
Het |
| Sass6 |
T |
C |
3: 116,407,709 (GRCm39) |
V275A |
probably benign |
Het |
| Sdcbp |
T |
C |
4: 6,393,661 (GRCm39) |
S259P |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,206 (GRCm39) |
F296L |
probably benign |
Het |
| Slc12a4 |
C |
T |
8: 106,673,322 (GRCm39) |
|
probably null |
Het |
| Snrk |
G |
A |
9: 121,989,597 (GRCm39) |
V314I |
probably benign |
Het |
| Tas1r3 |
C |
T |
4: 155,947,600 (GRCm39) |
|
probably null |
Het |
| Tle3 |
T |
A |
9: 61,320,195 (GRCm39) |
V560E |
probably damaging |
Het |
| Trdmt1 |
A |
G |
2: 13,526,918 (GRCm39) |
Y144H |
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,245,100 (GRCm39) |
T567A |
probably benign |
Het |
| Tsbp1 |
A |
C |
17: 34,678,973 (GRCm39) |
R228S |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,193,945 (GRCm39) |
D74G |
probably benign |
Het |
| Ube3c |
G |
A |
5: 29,842,769 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,375,311 (GRCm39) |
D375G |
probably benign |
Het |
| Zfp729b |
A |
G |
13: 67,741,218 (GRCm39) |
M349T |
possibly 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 |
|
|
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'- ATGACTGCTGTGCTTGAAACTG -3'
(R):5'- GTCACTCTGTTTCTGGATCAAGTAG -3'
Sequencing Primer
(F):5'- TGAAACTGATTCTCTGGCCAG -3'
(R):5'- TTCTGGATCAAGTAGCTGCAGAC -3'
|
| Posted On |
2022-05-13 |
Incidental Mutation