Incidental Mutation 'R1906:Aass'
| ID |
214366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
039925-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1906 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23072984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 923
(T923I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031707
AA Change: T923I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: T923I
| 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: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.5%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,038,170 (GRCm39) |
C256S |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,665,573 (GRCm39) |
W576* |
probably null |
Het |
| Adnp |
A |
T |
2: 168,024,287 (GRCm39) |
S1003T |
probably benign |
Het |
| AI987944 |
C |
T |
7: 41,024,550 (GRCm39) |
R146Q |
probably benign |
Het |
| Apol6 |
G |
T |
15: 76,935,060 (GRCm39) |
V110F |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,223,751 (GRCm39) |
F651L |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,417,868 (GRCm39) |
D813G |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,641,979 (GRCm39) |
I752N |
probably damaging |
Het |
| Cdr2 |
A |
G |
7: 120,581,224 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,330,607 (GRCm39) |
F75S |
probably benign |
Het |
| Col20a1 |
G |
A |
2: 180,640,490 (GRCm39) |
R549H |
probably benign |
Het |
| Col28a1 |
A |
T |
6: 7,999,644 (GRCm39) |
N1024K |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,878,048 (GRCm39) |
V2654D |
probably damaging |
Het |
| Dnph1 |
A |
T |
17: 46,807,787 (GRCm39) |
I18F |
probably damaging |
Het |
| Dsn1 |
G |
A |
2: 156,838,163 (GRCm39) |
R334W |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,518,873 (GRCm39) |
K325N |
probably benign |
Het |
| Eps15 |
T |
G |
4: 109,181,398 (GRCm39) |
S311A |
possibly damaging |
Het |
| Fmo3 |
G |
T |
1: 162,794,475 (GRCm39) |
D198E |
probably damaging |
Het |
| Folh1 |
C |
G |
7: 86,391,374 (GRCm39) |
|
probably null |
Het |
| Foxn1 |
A |
G |
11: 78,262,636 (GRCm39) |
|
probably null |
Het |
| Gm10604 |
T |
G |
4: 11,979,989 (GRCm39) |
D105A |
unknown |
Het |
| Gpx8 |
A |
G |
13: 113,182,110 (GRCm39) |
C108R |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,764,612 (GRCm39) |
I1013L |
probably benign |
Het |
| Hyal4 |
T |
G |
6: 24,756,110 (GRCm39) |
N109K |
probably damaging |
Het |
| Il22ra1 |
T |
G |
4: 135,478,544 (GRCm39) |
C538W |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,453,868 (GRCm39) |
|
probably null |
Het |
| Krt75 |
T |
A |
15: 101,481,801 (GRCm39) |
T156S |
possibly damaging |
Het |
| Lama2 |
A |
C |
10: 26,932,523 (GRCm39) |
|
probably null |
Het |
| Lifr |
G |
T |
15: 7,217,612 (GRCm39) |
V847L |
probably damaging |
Het |
| Lmf1 |
T |
A |
17: 25,831,309 (GRCm39) |
I185N |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,642,895 (GRCm39) |
R967C |
probably damaging |
Het |
| Ms4a15 |
T |
C |
19: 10,960,644 (GRCm39) |
I94V |
probably benign |
Het |
| Mycbpap |
A |
T |
11: 94,396,447 (GRCm39) |
M131K |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,240,211 (GRCm39) |
M920K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,198,538 (GRCm39) |
Y437H |
probably damaging |
Het |
| Npy5r |
A |
T |
8: 67,134,125 (GRCm39) |
W223R |
probably damaging |
Het |
| Or10ak11 |
G |
A |
4: 118,687,467 (GRCm39) |
H56Y |
probably damaging |
Het |
| Or10x4 |
C |
A |
1: 174,218,730 (GRCm39) |
L32M |
probably damaging |
Het |
| Or4c114 |
A |
G |
2: 88,905,414 (GRCm39) |
V7A |
possibly damaging |
Het |
| Or6c6c |
T |
G |
10: 129,541,365 (GRCm39) |
V206G |
probably benign |
Het |
| Polg |
T |
C |
7: 79,110,070 (GRCm39) |
K353E |
probably damaging |
Het |
| Proz |
C |
G |
8: 13,123,686 (GRCm39) |
|
probably null |
Het |
| Pus7 |
T |
C |
5: 23,983,209 (GRCm39) |
D86G |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,673 (GRCm39) |
V386A |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,206,054 (GRCm39) |
K846R |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,090,856 (GRCm39) |
|
probably null |
Het |
| Srp68 |
A |
T |
11: 116,141,587 (GRCm39) |
I424N |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,526,908 (GRCm39) |
E1055G |
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,955,159 (GRCm39) |
I571V |
probably benign |
Het |
| Tas2r107 |
T |
C |
6: 131,636,951 (GRCm39) |
M33V |
probably benign |
Het |
| Thap12 |
T |
C |
7: 98,365,947 (GRCm39) |
L705P |
probably damaging |
Het |
| Tom1 |
T |
C |
8: 75,778,218 (GRCm39) |
V100A |
probably damaging |
Het |
| Tox3 |
A |
G |
8: 90,975,057 (GRCm39) |
|
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,344 (GRCm39) |
N781S |
probably damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,327,547 (GRCm39) |
V343E |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,979,047 (GRCm39) |
Y467H |
probably damaging |
Het |
| Zbtb46 |
G |
A |
2: 181,065,632 (GRCm39) |
R173W |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,821,720 (GRCm39) |
D20G |
probably benign |
Het |
| Zfp777 |
A |
C |
6: 48,018,995 (GRCm39) |
M313R |
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 |
|
|
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'- AGGAGACTTATTAAAGGGTTCTGTG -3'
(R):5'- TACAGTACTGTTTGGCCCTGG -3'
Sequencing Primer
(F):5'- GTCTGGATTCTTCTACTCCAAAAG -3'
(R):5'- GGGTGGGACTCTTGCCATAGAAATAG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation