Incidental Mutation 'R9212:Aass'
ID |
698935 |
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 # |
R9212 (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 23075767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 790
(D790G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
|
AlphaFold |
Q99K67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031707
AA Change: D790G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031707 Gene: ENSMUSG00000029695 AA Change: D790G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (57/57) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
C |
T |
5: 9,005,591 (GRCm39) |
P1158L |
probably damaging |
Het |
Actn3 |
T |
C |
19: 4,914,565 (GRCm39) |
D521G |
probably benign |
Het |
Adhfe1 |
A |
T |
1: 9,637,036 (GRCm39) |
D396V |
possibly damaging |
Het |
Arhgap28 |
A |
G |
17: 68,162,430 (GRCm39) |
M639T |
probably benign |
Het |
Asb18 |
T |
C |
1: 89,880,447 (GRCm39) |
T453A |
probably benign |
Het |
Asxl3 |
T |
C |
18: 22,655,389 (GRCm39) |
I1133T |
probably benign |
Het |
C2cd4b |
G |
A |
9: 67,667,028 (GRCm39) |
R8H |
probably damaging |
Het |
Ccdc91 |
A |
G |
6: 147,508,398 (GRCm39) |
I375V |
unknown |
Het |
Cdh24 |
T |
A |
14: 54,878,679 (GRCm39) |
|
probably benign |
Het |
Cfap57 |
T |
A |
4: 118,436,649 (GRCm39) |
I916F |
possibly damaging |
Het |
Cfap65 |
G |
A |
1: 74,959,567 (GRCm39) |
T861I |
probably benign |
Het |
Chd1 |
T |
G |
17: 15,950,767 (GRCm39) |
S153A |
possibly damaging |
Het |
Cit |
A |
T |
5: 116,013,952 (GRCm39) |
I222F |
possibly damaging |
Het |
Clip1 |
T |
A |
5: 123,721,399 (GRCm39) |
K1165N |
probably damaging |
Het |
Cln6 |
A |
G |
9: 62,757,973 (GRCm39) |
H244R |
probably damaging |
Het |
Col19a1 |
A |
T |
1: 24,500,555 (GRCm39) |
|
probably null |
Het |
Dhx57 |
T |
G |
17: 80,576,338 (GRCm39) |
D584A |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,628,852 (GRCm39) |
V4123M |
possibly damaging |
Het |
Fam193a |
T |
C |
5: 34,597,481 (GRCm39) |
V94A |
probably benign |
Het |
Fzd6 |
A |
G |
15: 38,898,289 (GRCm39) |
H543R |
probably damaging |
Het |
Gad2 |
T |
A |
2: 22,571,399 (GRCm39) |
C446S |
probably damaging |
Het |
Gm29106 |
A |
G |
1: 118,127,270 (GRCm39) |
R321G |
probably damaging |
Het |
Gon4l |
T |
C |
3: 88,803,730 (GRCm39) |
V1447A |
probably benign |
Het |
Hus1b |
A |
C |
13: 31,130,858 (GRCm39) |
I267S |
possibly damaging |
Het |
Kifap3 |
C |
T |
1: 163,610,600 (GRCm39) |
L27F |
probably damaging |
Het |
Lancl2 |
A |
C |
6: 57,714,673 (GRCm39) |
I431L |
probably benign |
Het |
Ltbp2 |
G |
A |
12: 84,839,824 (GRCm39) |
P1069S |
probably damaging |
Het |
Mrgprb2 |
A |
T |
7: 48,202,392 (GRCm39) |
V111D |
possibly damaging |
Het |
Mta3 |
A |
T |
17: 84,015,846 (GRCm39) |
N16I |
probably damaging |
Het |
Npepps |
G |
T |
11: 97,129,047 (GRCm39) |
A379E |
probably damaging |
Het |
Nppc |
G |
T |
1: 86,597,619 (GRCm39) |
Q50K |
possibly damaging |
Het |
Or2a51 |
T |
A |
6: 43,178,756 (GRCm39) |
Y59* |
probably null |
Het |
Or5p54 |
C |
A |
7: 107,554,017 (GRCm39) |
H56Q |
probably benign |
Het |
Orc2 |
A |
G |
1: 58,515,695 (GRCm39) |
L271P |
probably damaging |
Het |
Papolg |
T |
C |
11: 23,823,817 (GRCm39) |
T334A |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,291,719 (GRCm39) |
S1313P |
probably damaging |
Het |
Ppp2r3d |
T |
C |
9: 101,063,175 (GRCm39) |
T154A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,050,493 (GRCm39) |
M2254V |
probably damaging |
Het |
Rabgap1 |
T |
C |
2: 37,377,152 (GRCm39) |
V328A |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,761,785 (GRCm39) |
V1616A |
probably damaging |
Het |
Rph3a |
T |
A |
5: 121,086,005 (GRCm39) |
H477L |
possibly damaging |
Het |
Rttn |
T |
C |
18: 89,064,286 (GRCm39) |
|
probably null |
Het |
Ryr2 |
A |
C |
13: 11,844,560 (GRCm39) |
I392S |
probably damaging |
Het |
Sbsn |
A |
G |
7: 30,452,427 (GRCm39) |
N481D |
probably benign |
Het |
Sf3a3 |
G |
A |
4: 124,621,921 (GRCm39) |
E354K |
possibly damaging |
Het |
Slc15a2 |
A |
C |
16: 36,602,053 (GRCm39) |
Y81* |
probably null |
Het |
Slc5a2 |
C |
A |
7: 127,867,939 (GRCm39) |
Q202K |
probably damaging |
Het |
Spata31h1 |
T |
C |
10: 82,118,979 (GRCm39) |
N4677S |
possibly damaging |
Het |
Stxbp2 |
G |
C |
8: 3,686,220 (GRCm39) |
K313N |
|
Het |
Tbc1d2b |
A |
T |
9: 90,087,183 (GRCm39) |
L932Q |
possibly damaging |
Het |
Trim24 |
A |
T |
6: 37,896,335 (GRCm39) |
Q264L |
probably benign |
Het |
Tubgcp3 |
A |
G |
8: 12,691,200 (GRCm39) |
V446A |
possibly damaging |
Het |
Unc93b1 |
G |
A |
19: 3,993,557 (GRCm39) |
R333Q |
probably damaging |
Het |
Wdr24 |
T |
C |
17: 26,043,472 (GRCm39) |
V98A |
probably benign |
Het |
Wdr62 |
G |
A |
7: 29,942,563 (GRCm39) |
S1015L |
probably damaging |
Het |
Zfp280d |
A |
G |
9: 72,269,789 (GRCm39) |
*975W |
probably null |
Het |
Zfp317 |
A |
T |
9: 19,558,442 (GRCm39) |
K219* |
probably null |
Het |
Zfp974 |
A |
G |
7: 27,610,052 (GRCm39) |
S558P |
possibly damaging |
Het |
Zfp986 |
A |
G |
4: 145,625,798 (GRCm39) |
K153E |
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 |
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 |
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'- ATCCAGGTCATAATCACCATCAGG -3'
(R):5'- CCCAATGTCTAGGTTGGTTTATTTC -3'
Sequencing Primer
(F):5'- GGCCAACTAATGAGCATTAATCAG -3'
(R):5'- AGTTGGAATTTCCCGCTC -3'
|
Posted On |
2022-02-07 |