Incidental Mutation 'PIT4651001:Aass'
ID |
556656 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aass
|
Ensembl Gene |
ENSMUSG00000029695 |
Gene Name |
aminoadipate-semialdehyde synthase |
Synonyms |
LOR/SDH, Lorsdh |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4651001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23118750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 131
(I131V)
|
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: I131V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000031707 Gene: ENSMUSG00000029695 AA Change: I131V
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 |
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 |
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 70.4%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,408,014 (GRCm39) |
I428L |
probably benign |
Het |
Alcam |
T |
A |
16: 52,115,550 (GRCm39) |
K189N |
probably benign |
Het |
Ankrd50 |
C |
A |
3: 38,509,959 (GRCm39) |
E803* |
probably null |
Het |
Ankrd53 |
A |
G |
6: 83,742,715 (GRCm39) |
D236G |
probably damaging |
Het |
Bard1 |
A |
G |
1: 71,114,087 (GRCm39) |
V298A |
probably benign |
Het |
Cacna1d |
C |
T |
14: 29,900,602 (GRCm39) |
G361D |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,916,647 (GRCm39) |
S82G |
probably benign |
Het |
Ccr4 |
A |
T |
9: 114,321,261 (GRCm39) |
V268E |
probably benign |
Het |
Cdh6 |
G |
A |
15: 13,044,805 (GRCm39) |
S439L |
possibly damaging |
Het |
Ces1e |
G |
T |
8: 93,941,711 (GRCm39) |
A254E |
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,225,467 (GRCm39) |
T1078A |
|
Het |
Cyp46a1 |
A |
G |
12: 108,319,367 (GRCm39) |
D288G |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,037,243 (GRCm39) |
N3333S |
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,765,241 (GRCm39) |
V491A |
probably benign |
Het |
Egr1 |
G |
T |
18: 34,996,240 (GRCm39) |
E341* |
probably null |
Het |
Enpp1 |
G |
A |
10: 24,529,848 (GRCm39) |
P597S |
probably benign |
Het |
Ercc3 |
A |
T |
18: 32,373,365 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,205,909 (GRCm39) |
|
probably null |
Het |
Fbxw11 |
T |
C |
11: 32,661,999 (GRCm39) |
|
probably null |
Het |
Fhip1a |
C |
T |
3: 85,590,948 (GRCm39) |
A389T |
probably damaging |
Het |
Gbf1 |
A |
G |
19: 46,151,982 (GRCm39) |
N5S |
probably benign |
Het |
Gbp4 |
T |
A |
5: 105,266,289 (GRCm39) |
H584L |
probably benign |
Het |
Gcgr |
G |
T |
11: 120,428,968 (GRCm39) |
C402F |
probably damaging |
Het |
Grm7 |
T |
A |
6: 110,623,050 (GRCm39) |
N74K |
probably benign |
Het |
H1f9 |
A |
G |
11: 94,859,142 (GRCm39) |
S146G |
probably benign |
Het |
Hoxa10 |
T |
G |
6: 52,211,877 (GRCm39) |
N13T |
possibly damaging |
Het |
Ice1 |
A |
T |
13: 70,772,040 (GRCm39) |
|
probably null |
Het |
Il22 |
C |
A |
10: 118,041,495 (GRCm39) |
N69K |
probably damaging |
Het |
Il9r |
A |
T |
11: 32,141,798 (GRCm39) |
H319Q |
probably benign |
Het |
Itgax |
A |
G |
7: 127,748,282 (GRCm39) |
T1104A |
probably benign |
Het |
Jag1 |
C |
T |
2: 136,943,617 (GRCm39) |
G193D |
probably damaging |
Het |
Krt13 |
T |
A |
11: 100,010,862 (GRCm39) |
D164V |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,649,194 (GRCm39) |
M865T |
probably damaging |
Het |
Lmf2 |
G |
A |
15: 89,236,272 (GRCm39) |
H576Y |
possibly damaging |
Het |
Lrrc8c |
C |
T |
5: 105,756,189 (GRCm39) |
H655Y |
probably benign |
Het |
Mapk6 |
A |
T |
9: 75,304,869 (GRCm39) |
S183T |
possibly damaging |
Het |
Mcrs1 |
A |
T |
15: 99,144,832 (GRCm39) |
Y261N |
probably damaging |
Het |
Mon1b |
G |
A |
8: 114,365,254 (GRCm39) |
G194D |
probably benign |
Het |
Myo18b |
C |
T |
5: 112,982,301 (GRCm39) |
R1144Q |
probably benign |
Het |
Myo9b |
T |
A |
8: 71,795,456 (GRCm39) |
H808Q |
possibly damaging |
Het |
Ngdn |
T |
C |
14: 55,253,657 (GRCm39) |
I15T |
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,284,183 (GRCm39) |
S41R |
probably damaging |
Het |
Numa1 |
A |
T |
7: 101,663,141 (GRCm39) |
K2089M |
probably damaging |
Het |
Obi1 |
T |
A |
14: 104,743,692 (GRCm39) |
D129V |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,932,507 (GRCm39) |
L4900P |
probably damaging |
Het |
Olfm4 |
T |
A |
14: 80,258,925 (GRCm39) |
L391Q |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,917,526 (GRCm39) |
C240S |
probably damaging |
Het |
Or2ag1 |
A |
G |
7: 106,472,730 (GRCm39) |
C241R |
probably damaging |
Het |
Or5b106 |
T |
A |
19: 13,123,991 (GRCm39) |
I11F |
probably benign |
Het |
Or5b111 |
A |
G |
19: 13,291,556 (GRCm39) |
I31T |
probably benign |
Het |
Or5m9 |
T |
C |
2: 85,876,862 (GRCm39) |
L12P |
probably damaging |
Het |
Parn |
T |
A |
16: 13,449,431 (GRCm39) |
N302Y |
probably benign |
Het |
Pi4k2b |
T |
G |
5: 52,905,812 (GRCm39) |
S118A |
possibly damaging |
Het |
Piwil4 |
C |
T |
9: 14,620,195 (GRCm39) |
V704I |
possibly damaging |
Het |
Pm20d2 |
G |
A |
4: 33,181,715 (GRCm39) |
T296M |
probably damaging |
Het |
Pmpcb |
C |
T |
5: 21,951,048 (GRCm39) |
A270V |
probably benign |
Het |
Pnpt1 |
T |
C |
11: 29,106,945 (GRCm39) |
|
probably null |
Het |
Prkn |
T |
A |
17: 11,286,130 (GRCm39) |
L41Q |
probably damaging |
Het |
Rc3h1 |
C |
A |
1: 160,791,110 (GRCm39) |
N931K |
probably benign |
Het |
Rlf |
A |
G |
4: 121,007,510 (GRCm39) |
V600A |
probably damaging |
Het |
Rpl27rt |
A |
T |
18: 34,870,892 (GRCm39) |
Q142L |
unknown |
Het |
Sall1 |
T |
G |
8: 89,757,731 (GRCm39) |
Q791P |
probably damaging |
Het |
Sema3c |
T |
A |
5: 17,899,731 (GRCm39) |
Y408N |
probably benign |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Tmem181a |
A |
T |
17: 6,351,170 (GRCm39) |
M319L |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,877,667 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,719,278 (GRCm39) |
T7234S |
unknown |
Het |
Unc13c |
T |
A |
9: 73,391,021 (GRCm39) |
M2076L |
possibly damaging |
Het |
Uroc1 |
C |
T |
6: 90,340,095 (GRCm39) |
R667* |
probably null |
Het |
Uvrag |
A |
G |
7: 98,555,727 (GRCm39) |
F456L |
probably benign |
Het |
Vmn1r215 |
T |
C |
13: 23,260,530 (GRCm39) |
V190A |
probably damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,771,659 (GRCm39) |
T681S |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,595,461 (GRCm39) |
T408S |
probably benign |
Het |
Vps33b |
A |
G |
7: 79,939,755 (GRCm39) |
D502G |
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 |
|
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 |
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'- TGTTCTCCAACAGGACCATC -3'
(R):5'- GTTTGTGACCAAGCATTTTCAAAGC -3'
Sequencing Primer
(F):5'- GCTACAAGCTCTTCCTAGGTATTAAC -3'
(R):5'- GCATTTAATGACACACCTGCTGG -3'
|
Posted On |
2019-06-07 |