Incidental Mutation 'R8262:Aass'
| ID |
639852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
067687-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8262 (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 C
at 23107709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 358
(D358G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
[ENSMUST00000149864]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031707
AA Change: D358G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: D358G
| 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 benign
Transcript: ENSMUST00000149864
|
| SMART Domains |
Protein: ENSMUSP00000115079
Gene: ENSMUSG00000029695
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Saccharop_dh
|
73 |
209 |
8.2e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.9401 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
98% (58/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,022,178 (GRCm39) |
C437* |
probably null |
Het |
| Arhgap10 |
A |
T |
8: 78,037,468 (GRCm39) |
C587S |
probably benign |
Het |
| Bank1 |
G |
A |
3: 135,948,721 (GRCm39) |
T285I |
probably benign |
Het |
| Bhlha15 |
C |
T |
5: 144,128,257 (GRCm39) |
S123L |
probably damaging |
Het |
| Cacul1 |
T |
C |
19: 60,517,475 (GRCm39) |
*305W |
probably null |
Het |
| Cep112 |
A |
C |
11: 108,393,977 (GRCm39) |
K365T |
probably damaging |
Het |
| Chrm1 |
T |
A |
19: 8,656,453 (GRCm39) |
L386Q |
probably damaging |
Het |
| Cnbp |
C |
A |
6: 87,822,194 (GRCm39) |
R110L |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,116,140 (GRCm39) |
I541F |
possibly damaging |
Het |
| Dscaml1 |
T |
G |
9: 45,658,438 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
C |
T |
10: 24,653,824 (GRCm39) |
S711N |
probably damaging |
Het |
| Eps8 |
G |
T |
6: 137,459,252 (GRCm39) |
N750K |
probably benign |
Het |
| Fan1 |
G |
T |
7: 64,023,054 (GRCm39) |
N66K |
probably benign |
Het |
| Fbf1 |
G |
A |
11: 116,044,845 (GRCm39) |
T323I |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,127,517 (GRCm39) |
N2143I |
unknown |
Het |
| Fn3k |
A |
C |
11: 121,339,744 (GRCm39) |
T169P |
probably benign |
Het |
| Fubp1 |
T |
G |
3: 151,926,356 (GRCm39) |
I320R |
probably damaging |
Het |
| Gfpt2 |
A |
T |
11: 49,714,607 (GRCm39) |
E335D |
probably benign |
Het |
| Gm17472 |
T |
C |
6: 42,957,968 (GRCm39) |
I79T |
probably benign |
Het |
| Gpr151 |
C |
A |
18: 42,711,437 (GRCm39) |
E414* |
probably null |
Het |
| Gpr179 |
G |
A |
11: 97,226,983 (GRCm39) |
S1724L |
probably benign |
Het |
| Gtf2h3 |
C |
A |
5: 124,728,967 (GRCm39) |
Y175* |
probably null |
Het |
| Hal |
T |
A |
10: 93,328,369 (GRCm39) |
I215N |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,053,304 (GRCm39) |
T2546A |
probably benign |
Het |
| Ighv1-11 |
T |
C |
12: 114,576,077 (GRCm39) |
Y46C |
probably damaging |
Het |
| Lcn4 |
T |
C |
2: 26,558,375 (GRCm39) |
D170G |
probably benign |
Het |
| Lrch1 |
T |
A |
14: 75,055,935 (GRCm39) |
D306V |
probably damaging |
Het |
| Mtcl1 |
A |
C |
17: 66,650,653 (GRCm39) |
V1604G |
probably damaging |
Het |
| Or10g3b |
T |
C |
14: 52,586,625 (GRCm39) |
N293D |
probably damaging |
Het |
| Or3a10 |
A |
G |
11: 73,935,926 (GRCm39) |
L58P |
probably damaging |
Het |
| Or4c108 |
T |
G |
2: 88,803,552 (GRCm39) |
S228R |
probably damaging |
Het |
| Or4k49 |
T |
G |
2: 111,494,587 (GRCm39) |
N5K |
possibly damaging |
Het |
| Or9i1b |
G |
A |
19: 13,897,226 (GRCm39) |
V281I |
probably benign |
Het |
| Ormdl2 |
A |
G |
10: 128,654,837 (GRCm39) |
L125P |
possibly damaging |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Pde3a |
T |
A |
6: 141,433,527 (GRCm39) |
F803Y |
possibly damaging |
Het |
| Pnpla7 |
C |
T |
2: 24,873,635 (GRCm39) |
R214W |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,813,520 (GRCm39) |
V960A |
probably benign |
Het |
| Ptgdr |
T |
C |
14: 45,090,858 (GRCm39) |
E300G |
probably benign |
Het |
| Ptpru |
G |
T |
4: 131,522,274 (GRCm39) |
Y710* |
probably null |
Het |
| Pxdn |
T |
A |
12: 30,049,195 (GRCm39) |
Y620* |
probably null |
Het |
| Pycard |
T |
C |
7: 127,592,797 (GRCm39) |
D10G |
possibly damaging |
Het |
| Sh3d21 |
G |
T |
4: 126,055,775 (GRCm39) |
Q160K |
probably benign |
Het |
| Slc26a7 |
G |
A |
4: 14,621,269 (GRCm39) |
P39L |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,068,928 (GRCm39) |
Y936N |
probably damaging |
Het |
| Sox8 |
T |
C |
17: 25,786,617 (GRCm39) |
D362G |
possibly damaging |
Het |
| Tcp11 |
T |
G |
17: 28,286,001 (GRCm39) |
N538T |
probably damaging |
Het |
| Tent2 |
T |
C |
13: 93,310,997 (GRCm39) |
|
probably benign |
Het |
| Tmem132e |
A |
C |
11: 82,325,666 (GRCm39) |
E222A |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,937,602 (GRCm39) |
E618G |
probably benign |
Het |
| Tsc2 |
G |
T |
17: 24,833,340 (GRCm39) |
Q695K |
probably benign |
Het |
| Txlnb |
C |
A |
10: 17,718,752 (GRCm39) |
L528M |
possibly damaging |
Het |
| Vmn1r176 |
A |
G |
7: 23,534,878 (GRCm39) |
Y92H |
probably benign |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,738 (GRCm39) |
I649F |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,171,272 (GRCm39) |
|
probably null |
Het |
| Wrn |
A |
T |
8: 33,814,274 (GRCm39) |
I390N |
probably benign |
Het |
| Zfp493 |
T |
A |
13: 67,934,976 (GRCm39) |
C310S |
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 |
|
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 |
|
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'- GTGTTTAAGCATATACCTCCAAGC -3'
(R):5'- GTCTTAGGTCAACACACTGTCC -3'
Sequencing Primer
(F):5'- TTAAGCATATACCTCCAAGCTTTCAC -3'
(R):5'- CACTGTCCCAAAGATTGAACTGTAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation