Incidental Mutation 'R7750:Aass'
| ID |
597146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
045806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7750 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23075199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 816
(D816V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031707
AA Change: D816V
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: D816V
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (56/56) |
| 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 |
|---|
| Abca16 |
A |
T |
7: 120,113,928 (GRCm39) |
N933I |
probably benign |
Het |
| Acly |
A |
T |
11: 100,368,839 (GRCm39) |
|
probably null |
Het |
| Acox1 |
C |
T |
11: 116,074,406 (GRCm39) |
G105D |
possibly damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,482,628 (GRCm39) |
E939G |
possibly damaging |
Het |
| Bard1 |
T |
A |
1: 71,106,101 (GRCm39) |
|
probably null |
Het |
| Brd4 |
G |
T |
17: 32,432,521 (GRCm39) |
N579K |
unknown |
Het |
| C1qc |
T |
C |
4: 136,617,592 (GRCm39) |
Y168C |
probably damaging |
Het |
| Casp6 |
A |
G |
3: 129,705,858 (GRCm39) |
D175G |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,190 (GRCm39) |
Y388* |
probably null |
Het |
| Clasrp |
A |
T |
7: 19,318,516 (GRCm39) |
*628R |
probably null |
Het |
| Cox4i1 |
A |
G |
8: 121,400,049 (GRCm39) |
I111V |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,903,886 (GRCm39) |
D293V |
probably damaging |
Het |
| Epb41l4b |
C |
T |
4: 57,076,913 (GRCm39) |
|
probably null |
Het |
| Frem2 |
C |
A |
3: 53,431,103 (GRCm39) |
L2743F |
possibly damaging |
Het |
| Frmd4a |
A |
T |
2: 4,606,160 (GRCm39) |
H628L |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,690,184 (GRCm39) |
D809G |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 36,274,652 (GRCm39) |
M1491K |
possibly damaging |
Het |
| Gm3604 |
G |
A |
13: 62,517,810 (GRCm39) |
H183Y |
possibly damaging |
Het |
| H1f7 |
A |
G |
15: 98,154,565 (GRCm39) |
S195P |
unknown |
Het |
| Lama2 |
T |
C |
10: 26,866,920 (GRCm39) |
Y2858C |
probably damaging |
Het |
| Methig1 |
T |
C |
15: 100,251,412 (GRCm39) |
F108L |
probably benign |
Het |
| Mfsd4b5 |
A |
G |
10: 39,846,251 (GRCm39) |
V443A |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Myh9 |
C |
T |
15: 77,667,610 (GRCm39) |
V608I |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,464,849 (GRCm39) |
D475G |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,170,728 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
T |
A |
11: 71,059,665 (GRCm39) |
I769F |
probably benign |
Het |
| Nol8 |
G |
T |
13: 49,815,742 (GRCm39) |
V617F |
possibly damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,740 (GRCm39) |
C109* |
probably null |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pou3f3 |
T |
A |
1: 42,737,308 (GRCm39) |
F335I |
probably damaging |
Het |
| Ppp1r3e |
T |
C |
14: 55,114,084 (GRCm39) |
D196G |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,041,757 (GRCm39) |
T545A |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rprd1a |
T |
A |
18: 24,641,311 (GRCm39) |
K102* |
probably null |
Het |
| Sim1 |
A |
G |
10: 50,772,131 (GRCm39) |
T47A |
possibly damaging |
Het |
| Slc45a1 |
C |
T |
4: 150,728,498 (GRCm39) |
A102T |
probably damaging |
Het |
| Slc6a11 |
C |
T |
6: 114,207,098 (GRCm39) |
P361S |
possibly damaging |
Het |
| Slc9b2 |
T |
C |
3: 135,031,998 (GRCm39) |
F286S |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,113,030 (GRCm39) |
S421P |
probably benign |
Het |
| Snap91 |
A |
C |
9: 86,680,762 (GRCm39) |
|
probably null |
Het |
| Sppl2a |
A |
G |
2: 126,761,625 (GRCm39) |
L293P |
probably damaging |
Het |
| Sval3 |
T |
A |
6: 41,949,360 (GRCm39) |
I66K |
possibly damaging |
Het |
| Synj2bp |
T |
C |
12: 81,551,311 (GRCm39) |
I85V |
probably benign |
Het |
| Thop1 |
G |
T |
10: 80,916,025 (GRCm39) |
A403S |
probably benign |
Het |
| Timd4 |
T |
A |
11: 46,706,354 (GRCm39) |
M52K |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,118,609 (GRCm39) |
N111D |
probably damaging |
Het |
| Trip10 |
G |
A |
17: 57,568,667 (GRCm39) |
V419I |
possibly damaging |
Het |
| Trpv3 |
T |
C |
11: 73,176,847 (GRCm39) |
Y409H |
probably damaging |
Het |
| Tulp4 |
A |
G |
17: 6,283,399 (GRCm39) |
T1143A |
probably damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,288,108 (GRCm39) |
S20T |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,610,823 (GRCm39) |
F406L |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,040,884 (GRCm39) |
E1788G |
probably benign |
Het |
| Usp45 |
A |
G |
4: 21,780,430 (GRCm39) |
D27G |
probably damaging |
Het |
| Vmn2r100 |
G |
A |
17: 19,742,726 (GRCm39) |
V367I |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,710,185 (GRCm39) |
K849I |
probably damaging |
Het |
| Zfp119b |
A |
T |
17: 56,245,682 (GRCm39) |
H501Q |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,016,958 (GRCm39) |
H893N |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,663,525 (GRCm39) |
E88G |
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 |
|
|
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 |
|
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'- GCAGACAGACATTTGCTCCC -3'
(R):5'- AACTTGTAACATATCATCTCCGCCC -3'
Sequencing Primer
(F):5'- CCTCCCAGTAGTTCCCAAATTC -3'
(R):5'- GCCCTGCGCTAAGGAGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation