Incidental Mutation 'R5481:Aass'
| ID |
434323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
043042-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5481 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23113475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 282
(V282L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
[ENSMUST00000149864]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031707
AA Change: V282L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: V282L
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 95.1%
- 20x: 90.0%
|
| 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 |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,759 (GRCm39) |
S187P |
probably damaging |
Het |
| Adh6a |
G |
T |
3: 138,031,719 (GRCm39) |
V204F |
probably damaging |
Het |
| Adrm1b |
A |
G |
3: 92,336,658 (GRCm39) |
S15P |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,384,799 (GRCm39) |
K148E |
possibly damaging |
Het |
| Atp12a |
A |
T |
14: 56,610,846 (GRCm39) |
D330V |
possibly damaging |
Het |
| Barhl1 |
A |
G |
2: 28,805,352 (GRCm39) |
Y114H |
probably damaging |
Het |
| BC106179 |
T |
A |
16: 23,042,918 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,570,900 (GRCm39) |
L792P |
probably benign |
Het |
| Calcoco2 |
A |
G |
11: 95,998,369 (GRCm39) |
V18A |
probably damaging |
Het |
| Chpf2 |
A |
T |
5: 24,794,340 (GRCm39) |
H170L |
probably damaging |
Het |
| Chrna1 |
T |
A |
2: 73,397,270 (GRCm39) |
I340F |
possibly damaging |
Het |
| Ckap5 |
A |
T |
2: 91,402,792 (GRCm39) |
I690F |
possibly damaging |
Het |
| Col10a1 |
A |
G |
10: 34,271,660 (GRCm39) |
H544R |
probably benign |
Het |
| Cyp2b19 |
A |
C |
7: 26,466,246 (GRCm39) |
T350P |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,796,676 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
G |
14: 31,030,828 (GRCm39) |
V443A |
possibly damaging |
Het |
| Erbb3 |
T |
C |
10: 128,408,349 (GRCm39) |
D855G |
probably damaging |
Het |
| Fam3c |
T |
C |
6: 22,321,357 (GRCm39) |
D138G |
probably benign |
Het |
| Fen1 |
A |
G |
19: 10,178,022 (GRCm39) |
C141R |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,441,216 (GRCm39) |
G390D |
probably damaging |
Het |
| Fnip1 |
C |
A |
11: 54,393,470 (GRCm39) |
D635E |
probably benign |
Het |
| Fry |
A |
T |
5: 150,183,784 (GRCm39) |
L17F |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,810,230 (GRCm39) |
I2183T |
probably benign |
Het |
| Gfpt1 |
T |
A |
6: 87,027,951 (GRCm39) |
I19N |
probably damaging |
Het |
| Hus1b |
T |
C |
13: 31,130,942 (GRCm39) |
D239G |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,987,966 (GRCm39) |
K546R |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,759,886 (GRCm39) |
V1124A |
unknown |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,153 (GRCm39) |
I417T |
probably damaging |
Het |
| Manba |
A |
T |
3: 135,230,317 (GRCm39) |
N297Y |
possibly damaging |
Het |
| Mblac1 |
A |
G |
5: 138,193,078 (GRCm39) |
D140G |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,058,905 (GRCm39) |
|
probably null |
Het |
| Morc1 |
T |
A |
16: 48,381,848 (GRCm39) |
|
probably null |
Het |
| Morc3 |
C |
A |
16: 93,659,543 (GRCm39) |
P449Q |
probably damaging |
Het |
| Mtr |
T |
C |
13: 12,203,041 (GRCm39) |
|
probably null |
Het |
| Mylk |
T |
A |
16: 34,741,974 (GRCm39) |
C829S |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,553,921 (GRCm39) |
I520T |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nos1 |
A |
T |
5: 118,005,819 (GRCm39) |
I180F |
probably benign |
Het |
| Ntsr1 |
C |
T |
2: 180,183,313 (GRCm39) |
T341M |
possibly damaging |
Het |
| Or8b51 |
A |
T |
9: 38,568,916 (GRCm39) |
F257L |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,818,883 (GRCm39) |
D435G |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,490,090 (GRCm39) |
N136K |
probably damaging |
Het |
| Pigt |
C |
A |
2: 164,348,342 (GRCm39) |
P429H |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,222,408 (GRCm39) |
I515V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,422,042 (GRCm39) |
Y3104C |
probably damaging |
Het |
| Ppp1r16a |
A |
C |
15: 76,575,221 (GRCm39) |
E43A |
probably damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,510,744 (GRCm39) |
L260P |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,318,498 (GRCm39) |
S355R |
probably damaging |
Het |
| Sema4a |
A |
T |
3: 88,360,347 (GRCm39) |
Y77* |
probably null |
Het |
| Serpinb9b |
T |
C |
13: 33,222,076 (GRCm39) |
V230A |
possibly damaging |
Het |
| Sfswap |
T |
A |
5: 129,591,882 (GRCm39) |
S300T |
probably damaging |
Het |
| Slc22a30 |
T |
C |
19: 8,314,201 (GRCm39) |
N495S |
probably benign |
Het |
| Srcap |
G |
A |
7: 127,131,369 (GRCm39) |
G836D |
probably damaging |
Het |
| Stard4 |
A |
C |
18: 33,338,298 (GRCm39) |
C137W |
probably benign |
Het |
| Stat6 |
A |
G |
10: 127,483,695 (GRCm39) |
|
probably null |
Het |
| Steap3 |
T |
C |
1: 120,169,454 (GRCm39) |
D243G |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,325,979 (GRCm39) |
S628P |
probably damaging |
Het |
| Unkl |
C |
T |
17: 25,420,146 (GRCm39) |
Q13* |
probably null |
Het |
| Usp38 |
A |
G |
8: 81,719,952 (GRCm39) |
S426P |
possibly damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,949,636 (GRCm39) |
T404A |
probably benign |
Het |
| Washc1 |
T |
C |
17: 66,425,860 (GRCm39) |
V425A |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,501,546 (GRCm39) |
I590T |
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 |
|
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'- CCGAGGACCTCAAGAATCAAGG -3'
(R):5'- TGGAGCCCCACGAATTAAGAG -3'
Sequencing Primer
(F):5'- TCAAGAATCAAGGAACCAAGGTAC -3'
(R):5'- GAGCCCCACGAATTAAGAGAAGTTTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation