Incidental Mutation 'R6784:Aass'
| ID |
531555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
044898-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6784 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23093895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 142
(S142N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
[ENSMUST00000149864]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031707
AA Change: S552N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: S552N
| 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 |
probably null
Transcript: ENSMUST00000149864
AA Change: S142N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115079
Gene: ENSMUSG00000029695
AA Change: S142N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Saccharop_dh
|
73 |
209 |
8.2e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.3963 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.2%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aida |
A |
G |
1: 183,103,346 (GRCm39) |
Y275C |
probably damaging |
Het |
| Arrdc4 |
A |
G |
7: 68,398,594 (GRCm39) |
I74T |
probably benign |
Het |
| C1ql4 |
A |
G |
15: 98,985,290 (GRCm39) |
V107A |
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,360,884 (GRCm39) |
V284A |
probably benign |
Het |
| Cd180 |
A |
G |
13: 102,839,213 (GRCm39) |
E32G |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,808,174 (GRCm39) |
D1680G |
probably damaging |
Het |
| Cog7 |
A |
T |
7: 121,563,516 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,741 (GRCm39) |
Q209L |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,319,084 (GRCm39) |
V116E |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,854,890 (GRCm39) |
K1932E |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,780,926 (GRCm39) |
S2086P |
probably damaging |
Het |
| Espl1 |
C |
G |
15: 102,207,660 (GRCm39) |
R375G |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,443,275 (GRCm39) |
S526L |
possibly damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gigyf2 |
G |
T |
1: 87,371,396 (GRCm39) |
V1170L |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,009,133 (GRCm39) |
T41K |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 27,990,086 (GRCm39) |
|
probably null |
Het |
| H2bc4 |
T |
C |
13: 23,868,483 (GRCm39) |
I90T |
probably damaging |
Het |
| Hoxc5 |
A |
G |
15: 102,922,322 (GRCm39) |
|
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,918 (GRCm39) |
Y210* |
probably null |
Het |
| Klra1 |
T |
C |
6: 130,349,817 (GRCm39) |
D207G |
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,680,240 (GRCm39) |
N57D |
probably benign |
Het |
| Map2k4 |
T |
C |
11: 65,582,577 (GRCm39) |
|
probably benign |
Het |
| Mgat3 |
G |
T |
15: 80,096,401 (GRCm39) |
Q409H |
probably damaging |
Het |
| Mpp3 |
T |
A |
11: 101,892,974 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
A |
11: 67,105,396 (GRCm39) |
L1062Q |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,439,725 (GRCm39) |
K183* |
probably null |
Het |
| Npat |
G |
C |
9: 53,469,458 (GRCm39) |
D315H |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,912,766 (GRCm39) |
V63A |
probably damaging |
Het |
| Opn1sw |
T |
A |
6: 29,379,846 (GRCm39) |
E129D |
probably damaging |
Het |
| Or10ag2 |
C |
T |
2: 87,248,796 (GRCm39) |
R135C |
probably benign |
Het |
| Or1e29 |
T |
G |
11: 73,667,676 (GRCm39) |
H159P |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,722 (GRCm39) |
T17S |
possibly damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,989 (GRCm39) |
D296V |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,407,764 (GRCm39) |
Y1153C |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,669,698 (GRCm39) |
D105E |
probably benign |
Het |
| Pwwp4c |
C |
T |
X: 73,684,021 (GRCm39) |
R355H |
probably damaging |
Homo |
| Rbm27 |
T |
C |
18: 42,434,929 (GRCm39) |
M331T |
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,505,710 (GRCm39) |
Y295H |
probably damaging |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Sla2 |
C |
T |
2: 156,725,589 (GRCm39) |
S3N |
unknown |
Het |
| Slc10a6 |
A |
G |
5: 103,776,896 (GRCm39) |
I68T |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,315,460 (GRCm39) |
F493S |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,263,845 (GRCm39) |
Y847N |
probably benign |
Het |
| Tmc1 |
A |
G |
19: 20,805,015 (GRCm39) |
|
probably null |
Het |
| Vps8 |
C |
A |
16: 21,381,957 (GRCm39) |
Q1130K |
probably benign |
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 |
|
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'- CTCAGCATTTAAGAGCACTGACTG -3'
(R):5'- GTTGTGGAGCTATGAAAATGTCTCC -3'
Sequencing Primer
(F):5'- ACTGACTGCTCTTCCAGAGG -3'
(R):5'- GCTATGAAAATGTCTCCAGTGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation