Incidental Mutation 'R9517:Aass'
| ID |
718642 |
| 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 # |
R9517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23113528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 264
(V264E)
|
| 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: V264E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: V264E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,987,424 (GRCm39) |
I1237V |
probably benign |
Het |
| Actn2 |
G |
T |
13: 12,295,317 (GRCm39) |
Q552K |
probably damaging |
Het |
| Adnp |
A |
T |
2: 168,024,866 (GRCm39) |
C810S |
possibly damaging |
Het |
| Aip |
A |
T |
19: 4,168,217 (GRCm39) |
I50K |
possibly damaging |
Het |
| Arsk |
A |
G |
13: 76,210,638 (GRCm39) |
S470P |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,407,167 (GRCm39) |
I2018K |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,705,275 (GRCm39) |
D46N |
|
Het |
| C6 |
G |
T |
15: 4,827,914 (GRCm39) |
C761F |
probably damaging |
Het |
| Cdk12 |
A |
T |
11: 98,109,910 (GRCm39) |
T644S |
unknown |
Het |
| Cela3a |
T |
A |
4: 137,131,825 (GRCm39) |
I123F |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 33,026,317 (GRCm39) |
S42T |
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,616,652 (GRCm39) |
S323P |
possibly damaging |
Het |
| Clec4g |
C |
A |
8: 3,767,452 (GRCm39) |
A198S |
probably damaging |
Het |
| Dcbld2 |
T |
G |
16: 58,253,819 (GRCm39) |
D185E |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,915,440 (GRCm39) |
V4393A |
possibly damaging |
Het |
| Dock9 |
T |
C |
14: 121,829,236 (GRCm39) |
T1392A |
probably benign |
Het |
| Ell2 |
A |
G |
13: 75,912,106 (GRCm39) |
K464R |
possibly damaging |
Het |
| Eme2 |
G |
A |
17: 25,114,033 (GRCm39) |
|
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,480,636 (GRCm39) |
I530N |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,480,892 (GRCm39) |
Y263H |
|
Het |
| Frem1 |
T |
C |
4: 82,901,714 (GRCm39) |
Y938C |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,522 (GRCm39) |
D343G |
probably benign |
Het |
| Gm3415 |
C |
T |
5: 146,493,406 (GRCm39) |
R84C |
possibly damaging |
Het |
| Hap1 |
A |
T |
11: 100,240,188 (GRCm39) |
V536D |
possibly damaging |
Het |
| Icos |
T |
C |
1: 61,032,894 (GRCm39) |
F31S |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,638,853 (GRCm39) |
S812T |
probably benign |
Het |
| Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
| Ldlr |
T |
C |
9: 21,655,240 (GRCm39) |
V623A |
possibly damaging |
Het |
| Lipc |
T |
C |
9: 70,709,560 (GRCm39) |
T396A |
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,794,272 (GRCm39) |
C445* |
probably null |
Het |
| Lrrc37 |
G |
A |
11: 103,433,416 (GRCm39) |
T3251I |
unknown |
Het |
| Mcc |
C |
A |
18: 44,794,794 (GRCm39) |
G10C |
probably damaging |
Het |
| Mtfr1l |
T |
C |
4: 134,256,515 (GRCm39) |
T217A |
probably benign |
Het |
| Mtrr |
A |
T |
13: 68,728,730 (GRCm39) |
S23R |
probably benign |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,721,166 (GRCm39) |
D1255E |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,725,406 (GRCm39) |
K453E |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,360,277 (GRCm39) |
M466K |
probably benign |
Het |
| Or10j3 |
C |
A |
1: 173,031,346 (GRCm39) |
A141D |
possibly damaging |
Het |
| Or11g26 |
C |
A |
14: 50,752,770 (GRCm39) |
F36L |
probably benign |
Het |
| Or4c106 |
G |
A |
2: 88,682,947 (GRCm39) |
V218I |
probably benign |
Het |
| Or4f54 |
T |
G |
2: 111,123,033 (GRCm39) |
M140R |
possibly damaging |
Het |
| Or8b41 |
T |
A |
9: 38,054,623 (GRCm39) |
M59K |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,042,965 (GRCm39) |
V192A |
probably benign |
Het |
| Pgd |
T |
C |
4: 149,249,668 (GRCm39) |
T35A |
possibly damaging |
Het |
| Plcxd3 |
G |
T |
15: 4,405,160 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,424,930 (GRCm39) |
D171V |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,953,930 (GRCm39) |
T124A |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,489,117 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
A |
G |
5: 124,607,788 (GRCm39) |
V144A |
probably benign |
Het |
| Rin3 |
T |
C |
12: 102,334,895 (GRCm39) |
S269P |
unknown |
Het |
| Setbp1 |
T |
C |
18: 78,901,322 (GRCm39) |
S782G |
probably damaging |
Het |
| Sgce |
A |
T |
6: 4,694,153 (GRCm39) |
F268I |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,970 (GRCm39) |
L552S |
possibly damaging |
Het |
| Tent4a |
A |
G |
13: 69,655,059 (GRCm39) |
C472R |
probably damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,555 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn1r39 |
A |
C |
6: 66,782,258 (GRCm39) |
I20R |
possibly damaging |
Het |
| Vmn2r82 |
C |
T |
10: 79,213,641 (GRCm39) |
R76* |
probably null |
Het |
| Zhx1 |
A |
T |
15: 57,915,812 (GRCm39) |
Y811* |
probably null |
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 |
|
R9372:Aass
|
UTSW |
6 |
23,078,856 (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'- TTCCCTGTCAGAAAACAGCC -3'
(R):5'- GCCCAGGAAGTCTTTAATGAGC -3'
Sequencing Primer
(F):5'- CAGCCTAACTATGGTGTGTCACAG -3'
(R):5'- CAGGAAGTCTTTAATGAGCTACCTTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation