Incidental Mutation 'R7821:Aass'
| ID |
601862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
045875-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7821 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23072172-23132985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23120929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 112
(T112S)
|
| 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: T112S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: T112S
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (61/62) |
| 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 |
|---|
| Abca12 |
G |
T |
1: 71,298,950 (GRCm39) |
S2320R |
probably benign |
Het |
| Abca7 |
TGGTGCGTGAG |
TG |
10: 79,838,424 (GRCm39) |
|
probably benign |
Het |
| Adh7 |
T |
A |
3: 137,932,136 (GRCm39) |
I250N |
probably damaging |
Het |
| Albfm1 |
T |
C |
5: 90,740,747 (GRCm39) |
V560A |
possibly damaging |
Het |
| Aoc1 |
T |
A |
6: 48,882,745 (GRCm39) |
I229N |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,106,951 (GRCm39) |
Y291* |
probably null |
Het |
| Cacnb4 |
T |
C |
2: 52,324,520 (GRCm39) |
D514G |
possibly damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,486 (GRCm39) |
Q81R |
possibly damaging |
Het |
| Clec2g |
A |
G |
6: 128,925,740 (GRCm39) |
T50A |
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,741,458 (GRCm39) |
E2487G |
probably damaging |
Het |
| D130040H23Rik |
A |
T |
8: 69,752,887 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,087,879 (GRCm39) |
S14N |
unknown |
Het |
| Dchs1 |
G |
A |
7: 105,414,352 (GRCm39) |
T821I |
probably benign |
Het |
| Dhcr24 |
T |
C |
4: 106,428,633 (GRCm39) |
S138P |
possibly damaging |
Het |
| Dhrs9 |
G |
A |
2: 69,224,782 (GRCm39) |
G157R |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,411,678 (GRCm39) |
D3682E |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,314,443 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
T |
8: 45,403,261 (GRCm39) |
H4L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,939,113 (GRCm38) |
I2319V |
probably benign |
Het |
| Foxe1 |
T |
C |
4: 46,344,578 (GRCm39) |
W129R |
probably damaging |
Het |
| Foxred2 |
G |
A |
15: 77,827,550 (GRCm39) |
P603L |
probably benign |
Het |
| Fshr |
A |
G |
17: 89,293,641 (GRCm39) |
S346P |
probably damaging |
Het |
| Galnt2 |
T |
A |
8: 125,070,134 (GRCm39) |
S550R |
possibly damaging |
Het |
| Gpc2 |
A |
G |
5: 138,274,559 (GRCm39) |
S312P |
probably benign |
Het |
| Gpr150 |
C |
A |
13: 76,204,511 (GRCm39) |
A145S |
probably benign |
Het |
| Grk4 |
T |
A |
5: 34,867,553 (GRCm39) |
W173R |
probably damaging |
Het |
| Hoxb9 |
C |
G |
11: 96,162,537 (GRCm39) |
P57R |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,528,954 (GRCm39) |
Q563R |
probably benign |
Het |
| Ighv1-58 |
A |
G |
12: 115,275,796 (GRCm39) |
F114S |
possibly damaging |
Het |
| Klra9 |
T |
A |
6: 130,162,563 (GRCm39) |
I158F |
probably damaging |
Het |
| Lrrc8d |
T |
C |
5: 105,960,210 (GRCm39) |
S207P |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,320 (GRCm39) |
E1929G |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,346,221 (GRCm39) |
M89T |
probably benign |
Het |
| Nkx2-4 |
T |
C |
2: 146,927,208 (GRCm39) |
I20V |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,916,917 (GRCm39) |
S1191P |
possibly damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,855 (GRCm39) |
D269G |
probably benign |
Het |
| Pfkp |
T |
A |
13: 6,647,908 (GRCm39) |
N556I |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,022,193 (GRCm39) |
S199T |
probably benign |
Het |
| Pik3r2 |
T |
A |
8: 71,222,408 (GRCm39) |
I515F |
probably damaging |
Het |
| Plcxd2 |
T |
A |
16: 45,785,524 (GRCm39) |
I294F |
probably damaging |
Het |
| Prmt6 |
C |
A |
3: 110,158,303 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,385,300 (GRCm39) |
I812V |
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,462,537 (GRCm39) |
|
probably null |
Het |
| Rsad1 |
A |
C |
11: 94,435,288 (GRCm39) |
D266E |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
A |
5: 93,088,705 (GRCm39) |
V485E |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,556,196 (GRCm39) |
Y451N |
probably damaging |
Het |
| Slc7a11 |
A |
T |
3: 50,335,476 (GRCm39) |
I354N |
probably damaging |
Het |
| Spryd7 |
A |
T |
14: 61,783,129 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
G |
7: 127,129,499 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,179,601 (GRCm39) |
D214V |
probably damaging |
Het |
| Tmtc4 |
T |
C |
14: 123,209,289 (GRCm39) |
I119V |
probably benign |
Het |
| Trim5 |
G |
A |
7: 103,927,633 (GRCm39) |
T169I |
probably benign |
Het |
| Ttc33 |
T |
C |
15: 5,241,506 (GRCm39) |
F83S |
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,997,431 (GRCm39) |
S1741T |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,907,975 (GRCm39) |
N694S |
probably benign |
Het |
| Zfp174 |
T |
A |
16: 3,666,041 (GRCm39) |
I102N |
probably damaging |
Het |
| Zfp354a |
T |
C |
11: 50,960,539 (GRCm39) |
F248S |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,302,098 (GRCm39) |
C404S |
probably damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,723,000 (GRCm39) |
|
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 |
|
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 |
|
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'- GGGGACACATTTATCCTCTACTTC -3'
(R):5'- TGCTTGGAGAGAGCATGAGTAC -3'
Sequencing Primer
(F):5'- TTGCATCTCTAAACTCCAAAACCTG -3'
(R):5'- CTGAAGTCTAAGGGAGTAATCTTTGC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation