Incidental Mutation 'R9065:Aass'
ID |
689198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aass
|
Ensembl Gene |
ENSMUSG00000029695 |
Gene Name |
aminoadipate-semialdehyde synthase |
Synonyms |
LOR/SDH, Lorsdh |
MMRRC Submission |
068890-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9065 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 23075746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 797
(A797E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
|
AlphaFold |
Q99K67 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031707
AA Change: A797E
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000031707 Gene: ENSMUSG00000029695 AA Change: A797E
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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,323,084 (GRCm39) |
N1472S |
probably benign |
Het |
4930447C04Rik |
C |
A |
12: 72,939,604 (GRCm39) |
Q435H |
possibly damaging |
Het |
Ap3b1 |
T |
A |
13: 94,608,223 (GRCm39) |
Y565N |
probably damaging |
Het |
Arid2 |
A |
G |
15: 96,269,372 (GRCm39) |
T1162A |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,887,131 (GRCm39) |
|
probably null |
Het |
Card11 |
G |
A |
5: 140,894,297 (GRCm39) |
P111S |
probably damaging |
Het |
Ccdc66 |
T |
A |
14: 27,213,850 (GRCm39) |
E328D |
probably damaging |
Het |
Cldn8 |
T |
A |
16: 88,359,902 (GRCm39) |
M8L |
probably benign |
Het |
Cnot9 |
T |
A |
1: 74,558,142 (GRCm39) |
L96* |
probably null |
Het |
Cntnap5c |
T |
A |
17: 58,445,642 (GRCm39) |
C561S |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,293,936 (GRCm39) |
D1347G |
probably benign |
Het |
Epb41 |
A |
G |
4: 131,682,888 (GRCm39) |
V390A |
|
Het |
Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
Eps15l1 |
G |
T |
8: 73,145,762 (GRCm39) |
S157* |
probably null |
Het |
Ercc6l2 |
A |
G |
13: 63,967,866 (GRCm39) |
I155M |
possibly damaging |
Het |
Esco1 |
G |
T |
18: 10,594,005 (GRCm39) |
T427K |
probably benign |
Het |
Fignl1 |
C |
T |
11: 11,752,692 (GRCm39) |
C121Y |
possibly damaging |
Het |
Flrt2 |
A |
G |
12: 95,746,177 (GRCm39) |
S172G |
probably damaging |
Het |
Frmd3 |
A |
T |
4: 74,063,269 (GRCm39) |
|
probably null |
Het |
Fuz |
C |
T |
7: 44,546,721 (GRCm39) |
R119W |
probably damaging |
Het |
Gtf2ird2 |
T |
G |
5: 134,225,407 (GRCm39) |
I165S |
probably damaging |
Het |
Itih1 |
T |
A |
14: 30,657,833 (GRCm39) |
I417F |
probably damaging |
Het |
Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
Lpp |
T |
A |
16: 24,580,889 (GRCm39) |
W327R |
probably benign |
Het |
Msrb2 |
T |
A |
2: 19,383,041 (GRCm39) |
F56I |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,554,305 (GRCm39) |
I3996T |
unknown |
Het |
Myh4 |
C |
A |
11: 67,139,573 (GRCm39) |
A630E |
probably benign |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Oacyl |
T |
A |
18: 65,840,484 (GRCm39) |
F85Y |
probably damaging |
Het |
Or5ac24 |
C |
T |
16: 59,165,530 (GRCm39) |
C178Y |
probably damaging |
Het |
Or5b118 |
T |
A |
19: 13,448,670 (GRCm39) |
I70N |
probably damaging |
Het |
Or6c69b |
T |
A |
10: 129,626,727 (GRCm39) |
I244F |
possibly damaging |
Het |
Pcdha11 |
A |
C |
18: 37,139,877 (GRCm39) |
E502A |
possibly damaging |
Het |
Pcnx3 |
T |
C |
19: 5,717,582 (GRCm39) |
E1509G |
possibly damaging |
Het |
Pfkm |
A |
T |
15: 98,021,680 (GRCm39) |
S314C |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,674,924 (GRCm39) |
H230R |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,251,893 (GRCm39) |
V427E |
possibly damaging |
Het |
Ppox |
TCTTATACCTGGAC |
TC |
1: 171,105,447 (GRCm39) |
|
probably benign |
Het |
Prr11 |
G |
A |
11: 86,992,249 (GRCm39) |
P209S |
probably damaging |
Het |
Prrc2b |
C |
A |
2: 32,109,304 (GRCm39) |
Q1690K |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,620,465 (GRCm39) |
M564L |
probably benign |
Het |
Sec24d |
T |
C |
3: 123,149,452 (GRCm39) |
Y820H |
probably damaging |
Het |
Six4 |
A |
C |
12: 73,159,498 (GRCm39) |
I154S |
possibly damaging |
Het |
Spata31e4 |
A |
T |
13: 50,856,276 (GRCm39) |
H638L |
probably benign |
Het |
Spock3 |
A |
G |
8: 63,801,989 (GRCm39) |
K323E |
probably damaging |
Het |
Stmn4 |
A |
T |
14: 66,596,126 (GRCm39) |
|
probably null |
Het |
Tafa2 |
A |
G |
10: 123,429,421 (GRCm39) |
K12E |
probably benign |
Het |
Tanc2 |
C |
T |
11: 105,689,518 (GRCm39) |
R227* |
probably null |
Het |
Tcp1 |
T |
A |
17: 13,139,210 (GRCm39) |
V179D |
probably damaging |
Het |
Trmt5 |
A |
T |
12: 73,328,038 (GRCm39) |
F388L |
probably damaging |
Het |
Tsc2 |
G |
T |
17: 24,822,164 (GRCm39) |
P1126H |
probably benign |
Het |
Ttn |
T |
A |
2: 76,612,720 (GRCm39) |
I17120F |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,778,270 (GRCm39) |
K1372N |
unknown |
Het |
U2surp |
T |
C |
9: 95,359,563 (GRCm39) |
T652A |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,592,972 (GRCm39) |
V2239A |
probably benign |
Het |
Vps33b |
A |
G |
7: 79,935,339 (GRCm39) |
T356A |
probably damaging |
Het |
Vwf |
C |
A |
6: 125,623,262 (GRCm39) |
H1786Q |
|
Het |
Wwox |
A |
G |
8: 115,215,682 (GRCm39) |
I152V |
probably benign |
Het |
Ythdc2 |
A |
G |
18: 44,977,418 (GRCm39) |
T405A |
probably benign |
Het |
Zfpm2 |
A |
T |
15: 40,962,712 (GRCm39) |
I257F |
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 |
|
R8941:Aass
|
UTSW |
6 |
23,075,261 (GRCm39) |
splice site |
probably benign |
|
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'- CCAGGTCATAATCACCATCAGG -3'
(R):5'- CCCAATGTCTAGGTTGGTTTATTTC -3'
Sequencing Primer
(F):5'- CCATCAGGGTTCTTCACTATCTAC -3'
(R):5'- AGTTGGAATTTCCCGCTC -3'
|
Posted On |
2021-11-19 |