Incidental Mutation 'R9372:Aass'
ID |
709373 |
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 # |
R9372 (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 23078856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 719
(T719A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
|
AlphaFold |
Q99K67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031707
AA Change: T719A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031707 Gene: ENSMUSG00000029695 AA Change: T719A
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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
Abcb8 |
A |
G |
5: 24,605,114 (GRCm39) |
E100G |
probably benign |
Het |
Actr1b |
C |
T |
1: 36,741,561 (GRCm39) |
E104K |
probably damaging |
Het |
Atad5 |
T |
A |
11: 79,985,094 (GRCm39) |
S60R |
possibly damaging |
Het |
Bcan |
G |
T |
3: 87,895,610 (GRCm39) |
A842D |
probably benign |
Het |
Cacna2d2 |
G |
A |
9: 107,394,802 (GRCm39) |
E623K |
probably benign |
Het |
Cdk15 |
T |
C |
1: 59,370,142 (GRCm39) |
Y393H |
probably benign |
Het |
Ceacam12 |
C |
T |
7: 17,803,229 (GRCm39) |
R212C |
probably benign |
Het |
Ceacam5 |
T |
C |
7: 17,481,267 (GRCm39) |
I338T |
possibly damaging |
Het |
Crcp |
A |
G |
5: 130,088,664 (GRCm39) |
D139G |
possibly damaging |
Het |
Crls1 |
T |
A |
2: 132,707,802 (GRCm39) |
Y290* |
probably null |
Het |
Dcun1d5 |
A |
G |
9: 7,206,780 (GRCm39) |
N206D |
probably damaging |
Het |
Dmtf1 |
A |
T |
5: 9,190,399 (GRCm39) |
V105E |
possibly damaging |
Het |
Dnah7a |
T |
C |
1: 53,543,474 (GRCm39) |
Y2232C |
probably benign |
Het |
Dnajc25 |
T |
A |
4: 59,003,394 (GRCm39) |
V55E |
probably damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,303,343 (GRCm39) |
M193V |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,221,489 (GRCm39) |
V662E |
probably damaging |
Het |
Enpp6 |
G |
A |
8: 47,506,627 (GRCm39) |
V144I |
possibly damaging |
Het |
Fip1l1 |
A |
G |
5: 74,707,463 (GRCm39) |
T204A |
possibly damaging |
Het |
Flvcr2 |
T |
C |
12: 85,793,795 (GRCm39) |
V57A |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,822,756 (GRCm39) |
I6163S |
possibly damaging |
Het |
Gipr |
T |
A |
7: 18,896,863 (GRCm39) |
M136L |
probably benign |
Het |
Gm7298 |
A |
G |
6: 121,748,746 (GRCm39) |
I674V |
probably benign |
Het |
Gtf2a1 |
C |
T |
12: 91,534,592 (GRCm39) |
V221I |
probably damaging |
Het |
Haus3 |
A |
T |
5: 34,321,002 (GRCm39) |
D481E |
probably benign |
Het |
Hinfp |
A |
C |
9: 44,209,083 (GRCm39) |
V345G |
probably damaging |
Het |
Hs3st5 |
A |
T |
10: 36,708,698 (GRCm39) |
K78* |
probably null |
Het |
Ighv1-31 |
T |
C |
12: 114,792,894 (GRCm39) |
Y114C |
probably damaging |
Het |
Ighv5-15 |
T |
A |
12: 113,790,357 (GRCm39) |
T88S |
probably damaging |
Het |
Ildr1 |
G |
A |
16: 36,542,721 (GRCm39) |
D418N |
probably damaging |
Het |
Ints10 |
C |
T |
8: 69,271,967 (GRCm39) |
T556I |
probably damaging |
Het |
Isoc1 |
G |
T |
18: 58,792,757 (GRCm39) |
R65L |
possibly damaging |
Het |
Itm2c |
C |
T |
1: 85,833,055 (GRCm39) |
R130C |
probably damaging |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Kif11 |
T |
C |
19: 37,399,892 (GRCm39) |
V793A |
probably benign |
Het |
Klrg1 |
A |
C |
6: 122,256,699 (GRCm39) |
V29G |
probably benign |
Het |
Lrch4 |
A |
G |
5: 137,631,953 (GRCm39) |
T114A |
possibly damaging |
Het |
Map3k3 |
C |
T |
11: 106,033,335 (GRCm39) |
T196M |
probably damaging |
Het |
Marchf1 |
C |
A |
8: 66,921,145 (GRCm39) |
T274N |
probably benign |
Het |
Nxpe5 |
A |
T |
5: 138,249,445 (GRCm39) |
T412S |
probably benign |
Het |
Or10q1 |
C |
T |
19: 13,727,069 (GRCm39) |
H200Y |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,258,960 (GRCm39) |
W502R |
probably damaging |
Het |
Pfdn5 |
T |
C |
15: 102,235,286 (GRCm39) |
|
probably null |
Het |
Pkn2 |
A |
T |
3: 142,535,018 (GRCm39) |
V232E |
probably damaging |
Het |
Ppfibp1 |
T |
C |
6: 146,898,307 (GRCm39) |
S88P |
probably damaging |
Het |
Prr23a4 |
A |
G |
9: 98,785,478 (GRCm39) |
I48V |
probably benign |
Het |
Ptprz1 |
G |
A |
6: 23,045,706 (GRCm39) |
E2159K |
probably damaging |
Het |
Smyd3 |
T |
C |
1: 178,871,470 (GRCm39) |
E303G |
possibly damaging |
Het |
Snx13 |
T |
A |
12: 35,151,048 (GRCm39) |
N336K |
possibly damaging |
Het |
Src |
A |
G |
2: 157,311,808 (GRCm39) |
E512G |
possibly damaging |
Het |
Stard9 |
T |
A |
2: 120,495,420 (GRCm39) |
C98* |
probably null |
Het |
Tapbpl |
A |
G |
6: 125,203,672 (GRCm39) |
V336A |
probably benign |
Het |
Tbrg1 |
G |
A |
9: 37,563,945 (GRCm39) |
T230I |
probably damaging |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tmem132c |
G |
A |
5: 127,640,145 (GRCm39) |
G772D |
probably damaging |
Het |
Tmem219 |
C |
T |
7: 126,496,017 (GRCm39) |
G119S |
possibly damaging |
Het |
Ttbk2 |
T |
A |
2: 120,603,766 (GRCm39) |
S325C |
probably benign |
Het |
Ttc28 |
A |
T |
5: 111,331,073 (GRCm39) |
Y431F |
probably benign |
Het |
Vmn1r27 |
A |
T |
6: 58,192,746 (GRCm39) |
M86K |
possibly damaging |
Het |
Vmn2r15 |
G |
A |
5: 109,441,953 (GRCm39) |
P160L |
possibly damaging |
Het |
Zfc3h1 |
A |
T |
10: 115,221,223 (GRCm39) |
S41C |
unknown |
Het |
Zfp260 |
C |
A |
7: 29,804,232 (GRCm39) |
T44K |
probably benign |
Het |
Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
Zfp760 |
A |
G |
17: 21,941,035 (GRCm39) |
N70S |
probably benign |
Het |
Zfp788 |
T |
A |
7: 41,299,708 (GRCm39) |
Y781* |
probably null |
Het |
Zfp800 |
A |
T |
6: 28,256,433 (GRCm39) |
S52T |
possibly 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 |
|
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 |
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'- TGGGTCATTACACACAATCAAGTC -3'
(R):5'- CCCAGAGGAAACAAACTGTTGTG -3'
Sequencing Primer
(F):5'- ATCAAGTCATAAATCTTGGAAAGGG -3'
(R):5'- TCTGTCACACCCATGGAT -3'
|
Posted On |
2022-04-18 |