Incidental Mutation 'R0841:Aass'
| ID |
77159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
039020-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0841 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23075810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 776
(C776S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031707
AA Change: C776S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: C776S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.1%
|
| Validation Efficiency |
94% (45/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
T |
A |
4: 73,860,986 (GRCm39) |
M205L |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
| Arhgap9 |
T |
A |
10: 127,165,508 (GRCm39) |
M639K |
probably damaging |
Het |
| Ctsj |
C |
T |
13: 61,150,357 (GRCm39) |
S214N |
probably damaging |
Het |
| Dnali1 |
T |
C |
4: 124,959,340 (GRCm39) |
S18G |
possibly damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
| Eml3 |
G |
A |
19: 8,915,049 (GRCm39) |
M635I |
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,050,147 (GRCm39) |
K4003T |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fgfr2 |
G |
A |
7: 129,863,635 (GRCm39) |
P4S |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 130,373,737 (GRCm39) |
|
probably benign |
Het |
| Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
| Gm9726 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9956 |
C |
A |
10: 56,621,424 (GRCm39) |
L29M |
unknown |
Het |
| Gm9956 |
T |
A |
10: 56,621,425 (GRCm39) |
L29Q |
unknown |
Het |
| Hddc3 |
T |
A |
7: 79,995,401 (GRCm39) |
S139T |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
| Inpp5k |
T |
C |
11: 75,524,285 (GRCm39) |
|
probably benign |
Het |
| Kcnq1 |
A |
G |
7: 142,661,189 (GRCm39) |
K32E |
probably benign |
Het |
| Krtdap |
A |
T |
7: 30,488,975 (GRCm39) |
|
probably benign |
Het |
| Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,752,032 (GRCm39) |
V4590A |
probably benign |
Het |
| Nip7 |
C |
A |
8: 107,784,007 (GRCm39) |
H82Q |
probably benign |
Het |
| Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
| Or52l1 |
A |
T |
7: 104,830,061 (GRCm39) |
V168E |
probably damaging |
Het |
| Otud6b |
T |
A |
4: 14,812,532 (GRCm39) |
T272S |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,309,186 (GRCm39) |
V1131A |
probably damaging |
Het |
| Prl7a1 |
T |
A |
13: 27,826,393 (GRCm39) |
|
probably benign |
Het |
| Sipa1 |
C |
A |
19: 5,704,835 (GRCm39) |
A587S |
probably benign |
Het |
| Slc17a6 |
A |
T |
7: 51,275,063 (GRCm39) |
I41F |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
| Smg1 |
A |
T |
7: 117,742,524 (GRCm39) |
L3230Q |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,780 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,121,209 (GRCm39) |
|
probably benign |
Het |
| Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
| Trp53rkb |
T |
C |
2: 166,637,430 (GRCm39) |
C129R |
probably benign |
Het |
| Ugt2a2 |
T |
C |
5: 87,622,648 (GRCm39) |
T317A |
probably benign |
Het |
| Ugt3a1 |
G |
A |
15: 9,306,214 (GRCm39) |
S121N |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,267,749 (GRCm39) |
T68A |
possibly damaging |
Het |
| Zfp7 |
G |
A |
15: 76,775,704 (GRCm39) |
C582Y |
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 |
|
|
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'- TCCAGGTCATAATCACCATCAGGGTT -3'
(R):5'- ATTGCTACAGGGTGCAGGGGTA -3'
Sequencing Primer
(F):5'- GGCCAACTAATGAGCATTAATCAG -3'
(R):5'- cacacacacacacacacac -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation