Incidental Mutation 'R0196:Aass'
ID |
23429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aass
|
Ensembl Gene |
ENSMUSG00000029695 |
Gene Name |
aminoadipate-semialdehyde synthase |
Synonyms |
LOR/SDH, Lorsdh |
MMRRC Submission |
038455-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0196 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23109519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 317
(P317L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
[ENSMUST00000149864]
|
AlphaFold |
Q99K67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031707
AA Change: P317L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031707 Gene: ENSMUSG00000029695 AA Change: P317L
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: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 81.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,446,591 (GRCm39) |
|
probably benign |
Het |
Abca12 |
T |
A |
1: 71,298,972 (GRCm39) |
N2313I |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,071,594 (GRCm39) |
I46T |
probably benign |
Het |
Adipoq |
T |
G |
16: 22,965,393 (GRCm39) |
|
probably null |
Het |
Amy1 |
A |
T |
3: 113,363,070 (GRCm39) |
D92E |
probably benign |
Het |
Asb15 |
G |
A |
6: 24,564,392 (GRCm39) |
R282Q |
probably damaging |
Het |
Bag6 |
G |
C |
17: 35,363,239 (GRCm39) |
G693A |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,887,282 (GRCm39) |
I870T |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,766,463 (GRCm39) |
K356R |
probably damaging |
Het |
Cbfa2t3 |
T |
C |
8: 123,360,076 (GRCm39) |
Q525R |
possibly damaging |
Het |
Cd4 |
T |
C |
6: 124,844,769 (GRCm39) |
R339G |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,917,066 (GRCm39) |
S350P |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,249,509 (GRCm39) |
S469T |
probably damaging |
Het |
Ckap2l |
A |
T |
2: 129,127,342 (GRCm39) |
S279T |
probably benign |
Het |
Clnk |
T |
A |
5: 38,927,282 (GRCm39) |
N66Y |
probably damaging |
Het |
Col27a1 |
A |
T |
4: 63,142,503 (GRCm39) |
T64S |
probably benign |
Het |
Crtc1 |
T |
C |
8: 70,838,871 (GRCm39) |
D599G |
probably damaging |
Het |
Cyp2c23 |
A |
C |
19: 44,000,795 (GRCm39) |
I363S |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,911,139 (GRCm39) |
I4519F |
possibly damaging |
Het |
Dner |
T |
A |
1: 84,348,553 (GRCm39) |
I716F |
probably damaging |
Het |
Dsel |
T |
G |
1: 111,789,333 (GRCm39) |
T401P |
possibly damaging |
Het |
Egfr |
A |
G |
11: 16,861,746 (GRCm39) |
D1175G |
probably benign |
Het |
Ephb3 |
A |
T |
16: 21,036,804 (GRCm39) |
N343I |
probably damaging |
Het |
Fbxw10 |
T |
A |
11: 62,768,070 (GRCm39) |
F974I |
probably benign |
Het |
Gfi1b |
T |
C |
2: 28,503,786 (GRCm39) |
Y138C |
probably damaging |
Het |
Gm11168 |
T |
A |
9: 3,005,175 (GRCm39) |
L6H |
probably benign |
Het |
Grb10 |
A |
C |
11: 11,895,583 (GRCm39) |
V247G |
probably damaging |
Het |
Gstp2 |
A |
T |
19: 4,090,514 (GRCm39) |
|
probably null |
Het |
Hars2 |
C |
T |
18: 36,922,257 (GRCm39) |
Q291* |
probably null |
Het |
Hyal4 |
G |
T |
6: 24,756,220 (GRCm39) |
W146L |
probably damaging |
Het |
Il22ra1 |
C |
T |
4: 135,461,556 (GRCm39) |
T107I |
possibly damaging |
Het |
Itga8 |
A |
G |
2: 12,209,540 (GRCm39) |
|
probably null |
Het |
Klhl25 |
T |
C |
7: 75,515,450 (GRCm39) |
S119P |
probably damaging |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Lrrc8c |
T |
C |
5: 105,754,636 (GRCm39) |
V137A |
probably benign |
Het |
Macrod2 |
A |
T |
2: 142,018,545 (GRCm39) |
E226V |
probably damaging |
Het |
Mcemp1 |
A |
T |
8: 3,718,201 (GRCm39) |
Q165L |
probably benign |
Het |
Mcpt9 |
T |
A |
14: 56,265,453 (GRCm39) |
K82M |
probably benign |
Het |
Mpzl3 |
A |
G |
9: 44,973,458 (GRCm39) |
T66A |
probably damaging |
Het |
Msh6 |
G |
A |
17: 88,287,788 (GRCm39) |
V143I |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,815,684 (GRCm39) |
|
probably null |
Het |
Ncr1 |
G |
T |
7: 4,343,972 (GRCm39) |
C153F |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,359,595 (GRCm39) |
M1411K |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,469,098 (GRCm39) |
V786D |
probably damaging |
Het |
Nisch |
T |
C |
14: 30,925,351 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,963,694 (GRCm39) |
Y1093N |
probably benign |
Het |
Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
Or1e32 |
A |
T |
11: 73,705,731 (GRCm39) |
M59K |
probably damaging |
Het |
Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
Oxa1l |
T |
C |
14: 54,600,944 (GRCm39) |
I139T |
probably damaging |
Het |
P3h3 |
T |
A |
6: 124,822,235 (GRCm39) |
N583Y |
probably damaging |
Het |
Pcdh18 |
A |
T |
3: 49,711,147 (GRCm39) |
|
probably null |
Het |
Pcnp |
C |
T |
16: 55,844,896 (GRCm39) |
|
probably benign |
Het |
Pdzd8 |
G |
T |
19: 59,289,563 (GRCm39) |
D612E |
probably benign |
Het |
Pi4kb |
T |
C |
3: 94,906,261 (GRCm39) |
S8P |
probably damaging |
Het |
Pikfyve |
T |
G |
1: 65,295,231 (GRCm39) |
V1454G |
possibly damaging |
Het |
Podn |
T |
C |
4: 107,878,695 (GRCm39) |
N246D |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,330,243 (GRCm39) |
|
probably benign |
Het |
R3hdm2 |
T |
C |
10: 127,320,390 (GRCm39) |
Y523H |
probably damaging |
Het |
Rpf1 |
T |
A |
3: 146,213,904 (GRCm39) |
E231V |
possibly damaging |
Het |
Slc16a10 |
C |
T |
10: 39,932,611 (GRCm39) |
E317K |
probably benign |
Het |
Slc34a1 |
A |
T |
13: 55,560,078 (GRCm39) |
I435F |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,344,683 (GRCm39) |
D629G |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,966,463 (GRCm39) |
I472T |
probably benign |
Het |
Trp53 |
A |
G |
11: 69,479,506 (GRCm39) |
Y202C |
probably damaging |
Het |
Ttc14 |
T |
A |
3: 33,863,403 (GRCm39) |
|
probably benign |
Het |
Ugt1a1 |
C |
T |
1: 88,140,277 (GRCm39) |
A185V |
possibly damaging |
Het |
Usp28 |
A |
G |
9: 48,939,578 (GRCm39) |
D655G |
probably damaging |
Het |
Vmn1r215 |
C |
T |
13: 23,260,254 (GRCm39) |
T98I |
probably damaging |
Het |
Vmn2r121 |
G |
T |
X: 123,041,879 (GRCm39) |
T426N |
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,614,835 (GRCm39) |
N852D |
probably benign |
Het |
Xrn2 |
T |
A |
2: 146,889,580 (GRCm39) |
D654E |
probably damaging |
Het |
Yju2 |
C |
A |
17: 56,271,653 (GRCm39) |
D191E |
probably damaging |
Het |
Zfp335 |
C |
G |
2: 164,738,065 (GRCm39) |
A849P |
possibly damaging |
Het |
Zfp954 |
C |
T |
7: 7,118,390 (GRCm39) |
V385M |
probably damaging |
Het |
Zmynd15 |
A |
G |
11: 70,355,052 (GRCm39) |
T350A |
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 |
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 |
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'- TGCTTCTAAGAGACCCAGGCAGAC -3'
(R):5'- ACTGATGGCTTAGCTTGCCCTTTAC -3'
Sequencing Primer
(F):5'- GCAGACCATCTCTAAAATGAGCTTTC -3'
(R):5'- ACTCCTAGCTGTGAGACAGTG -3'
|
Posted On |
2013-04-16 |