Incidental Mutation 'R4080:Aass'
| ID |
316811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
040856-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23109497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 324
(D324E)
|
| 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: D324E
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: D324E
| 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 |
noncoding transcript
Transcript: ENSMUST00000138063
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152280
|
| Meta Mutation Damage Score |
0.0880 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
C |
14: 68,757,988 (GRCm39) |
T245A |
probably benign |
Het |
| Adgrf3 |
G |
A |
5: 30,402,367 (GRCm39) |
Q554* |
probably null |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
| Aspm |
C |
A |
1: 139,398,493 (GRCm39) |
Q1024K |
probably damaging |
Het |
| C7 |
T |
C |
15: 5,019,946 (GRCm39) |
S734G |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,771,255 (GRCm39) |
S987T |
probably benign |
Het |
| Chrna2 |
C |
A |
14: 66,380,873 (GRCm39) |
Y47* |
probably null |
Het |
| Chrna2 |
G |
T |
14: 66,380,866 (GRCm39) |
G45V |
probably benign |
Het |
| Clec2g |
C |
A |
6: 128,958,287 (GRCm39) |
Q117K |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,029,304 (GRCm39) |
S253G |
probably benign |
Het |
| Cttn |
T |
A |
7: 144,011,461 (GRCm39) |
D116V |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,790,973 (GRCm39) |
V286A |
probably benign |
Het |
| Dcbld2 |
T |
A |
16: 58,285,736 (GRCm39) |
S632T |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,484,972 (GRCm39) |
N1118K |
probably benign |
Het |
| Eif2a |
C |
T |
3: 58,447,050 (GRCm39) |
T92M |
possibly damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,284,382 (GRCm39) |
C1068S |
probably benign |
Het |
| Fstl1 |
G |
A |
16: 37,642,965 (GRCm39) |
V110I |
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,275,542 (GRCm39) |
I465T |
probably damaging |
Het |
| Gpr137 |
C |
T |
19: 6,917,791 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,436,371 (GRCm39) |
I561T |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,541,149 (GRCm39) |
|
probably null |
Het |
| Ilf3 |
A |
G |
9: 21,314,430 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrrc41 |
C |
A |
4: 115,937,743 (GRCm39) |
|
probably null |
Het |
| Myh11 |
C |
A |
16: 14,041,923 (GRCm39) |
R700L |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,612,240 (GRCm39) |
D1295G |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,873,559 (GRCm39) |
M1488V |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,435,815 (GRCm39) |
Y903N |
probably damaging |
Het |
| Nek6 |
A |
G |
2: 38,440,649 (GRCm39) |
H19R |
probably damaging |
Het |
| Nktr |
A |
C |
9: 121,570,192 (GRCm39) |
T127P |
probably damaging |
Het |
| Noc4l |
A |
T |
5: 110,797,738 (GRCm39) |
D335E |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,449,622 (GRCm39) |
D1993G |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,683 (GRCm39) |
D52N |
probably damaging |
Het |
| Or5h22 |
A |
T |
16: 58,894,619 (GRCm39) |
F275I |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,908,583 (GRCm39) |
Q616L |
possibly damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,818,832 (GRCm39) |
D127V |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,839,633 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
A |
5: 21,018,294 (GRCm39) |
I16F |
probably damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,624,755 (GRCm39) |
R1200L |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Prss12 |
A |
G |
3: 123,279,134 (GRCm39) |
N404D |
probably benign |
Het |
| Ptch2 |
C |
G |
4: 116,968,403 (GRCm39) |
A926G |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 30,333,317 (GRCm39) |
F6L |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,942,293 (GRCm39) |
I853T |
possibly damaging |
Het |
| Reep6 |
G |
A |
10: 80,165,996 (GRCm39) |
|
probably benign |
Het |
| Rex2 |
T |
A |
4: 147,143,154 (GRCm39) |
S547R |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,107,222 (GRCm39) |
E55K |
probably damaging |
Het |
| Rtl6 |
T |
C |
15: 84,441,202 (GRCm39) |
T65A |
possibly damaging |
Het |
| Scarb1 |
G |
T |
5: 125,354,859 (GRCm39) |
P491Q |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,478,302 (GRCm39) |
S505G |
probably benign |
Het |
| Scube1 |
T |
G |
15: 83,492,948 (GRCm39) |
Q904P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,517 (GRCm39) |
Y1186C |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Spty2d1 |
T |
C |
7: 46,648,329 (GRCm39) |
E200G |
probably damaging |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Sybu |
T |
C |
15: 44,582,339 (GRCm39) |
K95R |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 72,813,796 (GRCm39) |
D488V |
probably damaging |
Het |
| Txk |
G |
A |
5: 72,858,006 (GRCm39) |
P381S |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,299,648 (GRCm39) |
M198K |
probably benign |
Het |
| Unc5a |
A |
T |
13: 55,152,294 (GRCm39) |
T786S |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,991,959 (GRCm39) |
R231Q |
probably damaging |
Het |
| Wfdc1 |
T |
A |
8: 120,410,532 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
T |
G |
7: 6,308,105 (GRCm39) |
C258G |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
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 |
|
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'- CTTCTAAGAGACCCAGGCAG -3'
(R):5'- GCCCTTTACTCCTAGCTGTGAG -3'
Sequencing Primer
(F):5'- GACCATCTCTAAAATGAGCTTTCTGG -3'
(R):5'- CTGTGAGACAGTGTCCTCTCAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation