Incidental Mutation 'R4082:Aass'
| ID |
316929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
041624-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4082 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23109497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 324
(D324E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
[ENSMUST00000149864]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031707
AA Change: D324E
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: D324E
| 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
|
| Meta Mutation Damage Score |
0.0880 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
G |
19: 24,043,366 (GRCm39) |
|
noncoding transcript |
Het |
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Abca12 |
G |
T |
1: 71,306,622 (GRCm39) |
T2028K |
possibly damaging |
Het |
| Abt1 |
T |
C |
13: 23,606,316 (GRCm39) |
T213A |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,014,117 (GRCm39) |
Y173S |
probably damaging |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Akr1d1 |
G |
A |
6: 37,534,424 (GRCm39) |
V193M |
probably damaging |
Het |
| Cars1 |
C |
T |
7: 143,123,234 (GRCm39) |
E461K |
probably damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,943,290 (GRCm39) |
L800P |
probably damaging |
Het |
| Ccl22 |
A |
G |
8: 95,473,536 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cdc123 |
G |
A |
2: 5,815,566 (GRCm39) |
|
probably benign |
Het |
| Cldn11 |
A |
T |
3: 31,217,278 (GRCm39) |
I149F |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,300,429 (GRCm39) |
Y986H |
unknown |
Het |
| Col6a3 |
G |
A |
1: 90,749,605 (GRCm39) |
L410F |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,761,282 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,433,374 (GRCm39) |
|
probably benign |
Het |
| Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,350,991 (GRCm39) |
I321T |
possibly damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,473,797 (GRCm39) |
|
probably null |
Het |
| Fasl |
C |
T |
1: 161,609,420 (GRCm39) |
V189M |
probably damaging |
Het |
| Fbxw5 |
T |
C |
2: 25,394,643 (GRCm39) |
|
probably null |
Het |
| Flg2 |
A |
C |
3: 93,110,828 (GRCm39) |
E952A |
unknown |
Het |
| Gpd1l |
A |
T |
9: 114,746,146 (GRCm39) |
L90Q |
probably damaging |
Het |
| Grik4 |
G |
T |
9: 42,509,180 (GRCm39) |
F414L |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klhl3 |
C |
T |
13: 58,166,611 (GRCm39) |
G407S |
probably null |
Het |
| Lmbr1 |
T |
C |
5: 29,463,753 (GRCm39) |
E157G |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
| Mrpl20 |
A |
T |
4: 155,892,970 (GRCm39) |
D67V |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,378,022 (GRCm39) |
T1346A |
possibly damaging |
Het |
| Naip5 |
A |
T |
13: 100,382,338 (GRCm39) |
C124S |
probably damaging |
Het |
| Or10ag2 |
T |
A |
2: 87,248,801 (GRCm39) |
Y134* |
probably null |
Het |
| Or13n4 |
T |
C |
7: 106,423,245 (GRCm39) |
T163A |
possibly damaging |
Het |
| Or52u1 |
T |
A |
7: 104,237,830 (GRCm39) |
V290D |
probably damaging |
Het |
| Osbp |
A |
G |
19: 11,956,030 (GRCm39) |
D385G |
probably benign |
Het |
| Paip1 |
G |
A |
13: 119,593,540 (GRCm39) |
D460N |
probably damaging |
Het |
| Pde3b |
T |
C |
7: 114,093,823 (GRCm39) |
S356P |
probably benign |
Het |
| Pms2 |
A |
G |
5: 143,867,837 (GRCm39) |
M814V |
probably damaging |
Het |
| Polg |
C |
A |
7: 79,114,576 (GRCm39) |
K128N |
probably damaging |
Het |
| Polk |
G |
T |
13: 96,620,181 (GRCm39) |
T694K |
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,417,491 (GRCm39) |
K342R |
unknown |
Het |
| Pou5f2 |
T |
C |
13: 78,174,024 (GRCm39) |
L322P |
probably damaging |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,705,382 (GRCm39) |
D183G |
probably damaging |
Het |
| Pygb |
G |
A |
2: 150,668,391 (GRCm39) |
|
probably null |
Het |
| Ralgds |
C |
T |
2: 28,442,283 (GRCm39) |
|
probably benign |
Het |
| Ret |
T |
C |
6: 118,130,927 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Rspo2 |
A |
C |
15: 42,885,933 (GRCm39) |
V241G |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,759,469 (GRCm39) |
|
probably benign |
Het |
| Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Sufu |
A |
G |
19: 46,413,541 (GRCm39) |
M141V |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,057,635 (GRCm39) |
V831D |
possibly damaging |
Het |
| Tc2n |
T |
C |
12: 101,617,414 (GRCm39) |
E335G |
possibly damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmcc1 |
T |
A |
6: 116,020,441 (GRCm39) |
H118L |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Vmn1r209 |
A |
C |
13: 22,989,785 (GRCm39) |
L302V |
probably null |
Het |
| Vmn2r117 |
C |
T |
17: 23,679,080 (GRCm39) |
V715I |
probably benign |
Het |
| Vopp1 |
A |
T |
6: 57,766,964 (GRCm39) |
Y37* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,863,973 (GRCm39) |
T528A |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,302,662 (GRCm39) |
D1774G |
probably benign |
Het |
| Zfp955b |
T |
A |
17: 33,521,129 (GRCm39) |
D199E |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,734,475 (GRCm39) |
S525G |
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 |
|
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'- CAAACATTGTGGTCTTTGATCCC -3'
(R):5'- GGCGACCTGGAAATGTTCTG -3'
Sequencing Primer
(F):5'- GATCCCTAATAATAGTGCTGCAGC -3'
(R):5'- ACACTGATGGCTTAGCTTGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation