Incidental Mutation 'R0848:Aass'
| ID |
77415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
039027-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0848 (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 23114984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 181
(H181Q)
|
| 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: H181Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: H181Q
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,632,011 (GRCm39) |
L4977* |
probably null |
Het |
| Abca8a |
T |
A |
11: 109,919,016 (GRCm39) |
Y1550F |
probably damaging |
Het |
| Actr2 |
C |
T |
11: 20,022,584 (GRCm39) |
E296K |
probably benign |
Het |
| Agtpbp1 |
A |
T |
13: 59,681,753 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
A |
C |
10: 89,906,987 (GRCm39) |
E268A |
probably damaging |
Het |
| C1rl |
A |
G |
6: 124,485,465 (GRCm39) |
T279A |
probably benign |
Het |
| C5ar2 |
T |
C |
7: 15,971,526 (GRCm39) |
T134A |
probably benign |
Het |
| Cdkl3 |
G |
A |
11: 51,902,094 (GRCm39) |
R101Q |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,321,654 (GRCm39) |
F386Y |
probably benign |
Het |
| Chd1 |
C |
T |
17: 15,990,503 (GRCm39) |
P1685L |
probably damaging |
Het |
| Chrne |
G |
T |
11: 70,506,239 (GRCm39) |
H402Q |
probably benign |
Het |
| Clvs1 |
A |
G |
4: 9,282,003 (GRCm39) |
D149G |
possibly damaging |
Het |
| Cntnap5b |
T |
C |
1: 100,182,888 (GRCm39) |
Y620H |
probably benign |
Het |
| Col6a1 |
A |
G |
10: 76,549,458 (GRCm39) |
|
probably null |
Het |
| Cyp2d26 |
T |
A |
15: 82,674,434 (GRCm39) |
I483F |
probably benign |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
| Dmac2l |
A |
T |
12: 69,788,584 (GRCm39) |
H161L |
probably benign |
Het |
| Eif1a |
T |
A |
18: 46,741,114 (GRCm39) |
N116K |
possibly damaging |
Het |
| Epb41l5 |
A |
T |
1: 119,477,684 (GRCm39) |
C696S |
probably benign |
Het |
| Exoc7 |
A |
G |
11: 116,186,074 (GRCm39) |
S376P |
possibly damaging |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gimap7 |
T |
C |
6: 48,700,657 (GRCm39) |
I81T |
probably damaging |
Het |
| Gtf2a1l |
T |
C |
17: 89,001,657 (GRCm39) |
V171A |
probably damaging |
Het |
| Hax1 |
A |
G |
3: 89,902,940 (GRCm39) |
S253P |
probably damaging |
Het |
| Hsd3b5 |
A |
T |
3: 98,526,671 (GRCm39) |
D258E |
probably damaging |
Het |
| Kcnb1 |
G |
T |
2: 166,948,187 (GRCm39) |
F220L |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,947,620 (GRCm39) |
Y1708F |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,090 (GRCm39) |
I379N |
probably damaging |
Het |
| Lpxn |
A |
G |
19: 12,781,401 (GRCm39) |
I40V |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,389,231 (GRCm39) |
|
probably null |
Het |
| Lyst |
G |
A |
13: 13,809,515 (GRCm39) |
R395H |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,295,271 (GRCm39) |
W737* |
probably null |
Het |
| Mki67 |
C |
A |
7: 135,302,772 (GRCm39) |
R754L |
probably benign |
Het |
| Morf4l1 |
A |
G |
9: 89,982,502 (GRCm39) |
V144A |
probably benign |
Het |
| Mvb12a |
T |
C |
8: 71,998,422 (GRCm39) |
S186P |
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,825,183 (GRCm39) |
N292S |
probably damaging |
Het |
| Nqo2 |
T |
G |
13: 34,156,461 (GRCm39) |
|
probably null |
Het |
| Or14a256 |
T |
C |
7: 86,264,848 (GRCm39) |
Y335C |
probably damaging |
Het |
| Or2d3b |
A |
G |
7: 106,514,200 (GRCm39) |
K265R |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,260,365 (GRCm39) |
N269K |
probably benign |
Het |
| Or6c214 |
C |
T |
10: 129,591,077 (GRCm39) |
V81I |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,951,350 (GRCm39) |
P507Q |
probably damaging |
Het |
| Pcdhb1 |
G |
A |
18: 37,400,475 (GRCm39) |
G809S |
probably benign |
Het |
| Pcm1 |
T |
C |
8: 41,735,720 (GRCm39) |
V846A |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,902,253 (GRCm39) |
L20P |
probably damaging |
Het |
| Pih1d1 |
A |
G |
7: 44,807,041 (GRCm39) |
T58A |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,308,021 (GRCm39) |
|
probably null |
Het |
| Plvap |
A |
T |
8: 71,959,526 (GRCm39) |
L422Q |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,882,492 (GRCm39) |
A1273V |
probably benign |
Het |
| Prelid2 |
T |
A |
18: 42,068,289 (GRCm39) |
I51F |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,501,783 (GRCm39) |
D8N |
probably damaging |
Het |
| Ptpra |
T |
A |
2: 130,360,911 (GRCm39) |
F190Y |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,438,393 (GRCm39) |
S151P |
probably benign |
Het |
| Rsph6a |
G |
A |
7: 18,791,595 (GRCm39) |
D255N |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,083,288 (GRCm39) |
V42D |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,818,866 (GRCm39) |
N22S |
probably benign |
Het |
| Snx5 |
G |
A |
2: 144,095,726 (GRCm39) |
R312C |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,526,304 (GRCm39) |
S854P |
probably damaging |
Het |
| Syne2 |
AAGAG |
AAGAGAGAG |
12: 76,144,733 (GRCm39) |
|
probably null |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tlr12 |
A |
G |
4: 128,510,084 (GRCm39) |
I722T |
probably benign |
Het |
| Tmem101 |
A |
T |
11: 102,046,692 (GRCm39) |
M59K |
possibly damaging |
Het |
| Trim34a |
C |
T |
7: 103,910,331 (GRCm39) |
R378C |
probably benign |
Het |
| Trim35 |
T |
A |
14: 66,546,574 (GRCm39) |
M447K |
probably benign |
Het |
| Trps1 |
C |
A |
15: 50,524,945 (GRCm39) |
S704I |
possibly damaging |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,433 (GRCm39) |
S161C |
probably damaging |
Het |
| Vps13a |
A |
C |
19: 16,676,261 (GRCm39) |
N1237K |
probably damaging |
Het |
| Zfp619 |
G |
T |
7: 39,185,983 (GRCm39) |
C671F |
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 |
|
|
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'- TCGGATTGCTTGCCAGAAAGGATAG -3'
(R):5'- AGGCCAGGTCAGGTTGTGATATGC -3'
Sequencing Primer
(F):5'- GATAGGTGGAGTTACCTTGGATAC -3'
(R):5'- GCTTCCTTAGGATACTAAGCAGG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation