Incidental Mutation 'R9626:Aass'
| ID |
725142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9626 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23127502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 37
(N37I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
[ENSMUST00000149864]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031707
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
| 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 |
unknown
Transcript: ENSMUST00000149864
AA Change: N37I
|
| SMART Domains |
Protein: ENSMUSP00000115079
Gene: ENSMUSG00000029695
AA Change: N37I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Saccharop_dh
|
73 |
209 |
8.2e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,011,606 (GRCm39) |
T1146S |
probably benign |
Het |
| Acnat2 |
G |
A |
4: 49,380,179 (GRCm39) |
H400Y |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,275,721 (GRCm39) |
S768P |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,906,878 (GRCm39) |
H47L |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,710,796 (GRCm39) |
N712I |
possibly damaging |
Het |
| Bri3bp |
T |
A |
5: 125,531,572 (GRCm39) |
S173T |
probably damaging |
Het |
| Camta1 |
A |
T |
4: 151,168,287 (GRCm39) |
S254R |
probably damaging |
Het |
| Card9 |
T |
C |
2: 26,247,294 (GRCm39) |
E285G |
probably benign |
Het |
| Celf2 |
G |
A |
2: 6,590,835 (GRCm39) |
A320V |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,726,521 (GRCm39) |
I3250T |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,230,805 (GRCm39) |
R941H |
|
Het |
| Cntrob |
T |
C |
11: 69,202,167 (GRCm39) |
H475R |
possibly damaging |
Het |
| Dcaf6 |
G |
A |
1: 165,227,264 (GRCm39) |
R288* |
probably null |
Het |
| Ebna1bp2 |
G |
A |
4: 118,478,371 (GRCm39) |
|
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,444,730 (GRCm39) |
D302V |
probably benign |
Het |
| Fbxo48 |
T |
A |
11: 16,904,333 (GRCm39) |
*162K |
probably null |
Het |
| Fyttd1 |
T |
C |
16: 32,725,915 (GRCm39) |
L290S |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,418,917 (GRCm39) |
D472G |
probably damaging |
Het |
| Gjb4 |
C |
T |
4: 127,246,081 (GRCm39) |
|
probably benign |
Het |
| Gm5157 |
G |
T |
7: 20,919,396 (GRCm39) |
T49K |
probably damaging |
Het |
| Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
| Hnrnpm |
G |
T |
17: 33,896,264 (GRCm39) |
D88E |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
| Hunk |
C |
T |
16: 90,272,791 (GRCm39) |
T365M |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,354,669 (GRCm39) |
D972G |
probably benign |
Het |
| Mamdc4 |
A |
G |
2: 25,458,273 (GRCm39) |
L379P |
probably damaging |
Het |
| Mcrs1 |
A |
G |
15: 99,146,353 (GRCm39) |
L179P |
probably damaging |
Het |
| Mterf2 |
C |
T |
10: 84,956,295 (GRCm39) |
A110T |
probably benign |
Het |
| Mucl1 |
A |
G |
15: 103,783,934 (GRCm39) |
S91P |
possibly damaging |
Het |
| Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
| Ndst4 |
A |
C |
3: 125,476,829 (GRCm39) |
D18A |
probably damaging |
Het |
| Ndufv1 |
A |
T |
19: 4,058,064 (GRCm39) |
C382* |
probably null |
Het |
| Npc1l1 |
T |
C |
11: 6,177,854 (GRCm39) |
K519E |
probably benign |
Het |
| Nphs1 |
A |
G |
7: 30,166,991 (GRCm39) |
K747E |
probably benign |
Het |
| Nubp2 |
C |
G |
17: 25,103,374 (GRCm39) |
|
probably null |
Het |
| Odad2 |
G |
T |
18: 7,211,422 (GRCm39) |
C817* |
probably null |
Het |
| Or13a19 |
T |
C |
7: 139,903,236 (GRCm39) |
V208A |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,878,600 (GRCm39) |
D181E |
possibly damaging |
Het |
| Or7a36 |
T |
G |
10: 78,820,213 (GRCm39) |
D196E |
probably benign |
Het |
| Or7a40 |
A |
G |
16: 16,491,491 (GRCm39) |
M118T |
probably damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,977 (GRCm39) |
T135A |
probably benign |
Het |
| Pcdhac2 |
T |
G |
18: 37,279,555 (GRCm39) |
L845R |
probably damaging |
Het |
| Pcdhb14 |
A |
C |
18: 37,581,787 (GRCm39) |
T298P |
probably damaging |
Het |
| Phldb2 |
A |
T |
16: 45,592,547 (GRCm39) |
L957Q |
possibly damaging |
Het |
| Pole |
A |
G |
5: 110,459,959 (GRCm39) |
D1121G |
possibly damaging |
Het |
| Ppp1r3g |
C |
A |
13: 36,153,612 (GRCm39) |
T344K |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,385,681 (GRCm39) |
K954R |
possibly damaging |
Het |
| Prr15l |
C |
A |
11: 96,825,440 (GRCm39) |
Y23* |
probably null |
Het |
| Sap18b |
A |
G |
8: 96,552,098 (GRCm39) |
E36G |
possibly damaging |
Het |
| Slc46a2 |
A |
T |
4: 59,914,241 (GRCm39) |
F227L |
probably benign |
Het |
| Spata13 |
C |
T |
14: 60,944,349 (GRCm39) |
P581S |
probably benign |
Het |
| Spmip4 |
T |
A |
6: 50,550,930 (GRCm39) |
K506N |
|
Het |
| Ssc5d |
C |
A |
7: 4,946,568 (GRCm39) |
T974K |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,545,345 (GRCm39) |
R2491S |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,437,579 (GRCm39) |
E697G |
unknown |
Het |
| Tmem44 |
A |
T |
16: 30,366,226 (GRCm39) |
F67I |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,790,846 (GRCm39) |
Q627L |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,278,570 (GRCm39) |
D77G |
possibly damaging |
Het |
| Ttc9 |
A |
G |
12: 81,710,301 (GRCm39) |
I198V |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,661,550 (GRCm39) |
V11942M |
unknown |
Het |
| Uqcrc2 |
T |
A |
7: 120,237,118 (GRCm39) |
Y55* |
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,571,273 (GRCm39) |
M209L |
probably benign |
Het |
| Vmn2r50 |
A |
T |
7: 9,771,960 (GRCm39) |
C580* |
probably null |
Het |
| Vmn2r96 |
A |
G |
17: 18,793,758 (GRCm39) |
E34G |
probably benign |
Het |
| Zmynd8 |
C |
T |
2: 165,654,268 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CAAGGTGGAATGTTTTCGGC -3'
(R):5'- GTAGAAGAATCACAGAGCTCCG -3'
Sequencing Primer
(F):5'- CGGCTTATCCATTGACTCTAGTAAG -3'
(R):5'- TCACAGAGCTCCGTGAAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation