Incidental Mutation 'R8303:Aass'
| ID |
639313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
067715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8303 (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 C
at 23092367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 591
(D591G)
|
| 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: D591G
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: D591G
| 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
AA Change: D181G
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115079
Gene: ENSMUSG00000029695
AA Change: D181G
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (65/65) |
| 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 |
|---|
| 2810021J22Rik |
T |
A |
11: 58,770,966 (GRCm39) |
D149E |
probably benign |
Het |
| Aars2 |
T |
C |
17: 45,818,523 (GRCm39) |
C103R |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,172,205 (GRCm39) |
T1662A |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,009,327 (GRCm39) |
I520N |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,116,095 (GRCm39) |
I279T |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,294,808 (GRCm39) |
K30R |
probably damaging |
Het |
| Asxl3 |
C |
T |
18: 22,657,473 (GRCm39) |
R1828W |
probably benign |
Het |
| Bid |
T |
C |
6: 120,877,200 (GRCm39) |
Y47C |
probably benign |
Het |
| Card6 |
T |
C |
15: 5,134,847 (GRCm39) |
T119A |
probably benign |
Het |
| Cbr1 |
T |
C |
16: 93,406,905 (GRCm39) |
I207T |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,759,575 (GRCm39) |
L443P |
probably damaging |
Het |
| Cfap251 |
T |
A |
5: 123,460,650 (GRCm39) |
V1204E |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,754,274 (GRCm39) |
R1017* |
probably null |
Het |
| Cfap52 |
T |
A |
11: 67,830,621 (GRCm39) |
S280C |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,069,022 (GRCm39) |
F81L |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,186,130 (GRCm39) |
D430G |
probably damaging |
Het |
| Cyp4f37 |
G |
A |
17: 32,853,152 (GRCm39) |
|
probably null |
Het |
| Dclre1a |
A |
G |
19: 56,531,121 (GRCm39) |
S742P |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,759,855 (GRCm39) |
F414S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,381,319 (GRCm39) |
N2688S |
probably benign |
Het |
| Elovl4 |
A |
T |
9: 83,670,320 (GRCm39) |
|
probably null |
Het |
| Erbin |
A |
C |
13: 103,966,694 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,818,724 (GRCm39) |
D4819G |
probably benign |
Het |
| Gapvd1 |
G |
A |
2: 34,602,212 (GRCm39) |
P645L |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,229,171 (GRCm39) |
E492G |
possibly damaging |
Het |
| Gpc5 |
T |
A |
14: 115,665,667 (GRCm39) |
I497K |
probably benign |
Het |
| Hlx |
A |
G |
1: 184,459,905 (GRCm39) |
L411P |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,754,526 (GRCm39) |
I520N |
probably benign |
Het |
| Ist1 |
T |
C |
8: 110,410,412 (GRCm39) |
|
probably null |
Het |
| Itga3 |
T |
C |
11: 94,953,466 (GRCm39) |
D292G |
probably benign |
Het |
| Kif21a |
T |
C |
15: 90,855,399 (GRCm39) |
N655S |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,662 (GRCm39) |
H373R |
probably benign |
Het |
| Ngdn |
A |
T |
14: 55,260,602 (GRCm39) |
H270L |
probably benign |
Het |
| Nol4 |
G |
A |
18: 23,173,231 (GRCm39) |
|
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,702 (GRCm39) |
E114G |
probably benign |
Het |
| Nxpe5 |
G |
A |
5: 138,239,264 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
A |
G |
2: 36,624,467 (GRCm39) |
I45V |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or8d1 |
A |
C |
9: 38,766,837 (GRCm39) |
T160P |
probably damaging |
Het |
| Or8g30 |
A |
C |
9: 39,230,689 (GRCm39) |
S74A |
probably damaging |
Het |
| Pask |
C |
A |
1: 93,248,286 (GRCm39) |
R1005L |
probably benign |
Het |
| Pcm1 |
A |
G |
8: 41,736,758 (GRCm39) |
T875A |
probably damaging |
Het |
| Pdrg1 |
A |
T |
2: 152,851,587 (GRCm39) |
I130N |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,073,466 (GRCm39) |
M448K |
unknown |
Het |
| R3hdml |
T |
G |
2: 163,341,832 (GRCm39) |
V204G |
probably damaging |
Het |
| Rasa4 |
G |
A |
5: 136,118,235 (GRCm39) |
V32M |
possibly damaging |
Het |
| Scaf8 |
T |
C |
17: 3,198,827 (GRCm39) |
V44A |
unknown |
Het |
| Smad3 |
G |
T |
9: 63,574,760 (GRCm39) |
P177T |
probably benign |
Het |
| Smpd4 |
T |
A |
16: 17,457,195 (GRCm39) |
F384L |
probably damaging |
Het |
| Sycp2l |
G |
C |
13: 41,283,275 (GRCm39) |
L170F |
probably damaging |
Het |
| Tas2r107 |
T |
C |
6: 131,636,585 (GRCm39) |
S155G |
probably benign |
Het |
| Tmem143 |
T |
A |
7: 45,565,994 (GRCm39) |
M439K |
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,555,494 (GRCm39) |
T317S |
probably benign |
Het |
| Umps |
A |
G |
16: 33,784,240 (GRCm39) |
V71A |
possibly damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,389 (GRCm39) |
G228D |
possibly damaging |
Het |
| Usp17ld |
C |
T |
7: 102,900,023 (GRCm39) |
C303Y |
probably damaging |
Het |
| Vmn2r65 |
C |
A |
7: 84,589,391 (GRCm39) |
E842* |
probably null |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,433 (GRCm39) |
F619S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,594,270 (GRCm39) |
T3154A |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,640,063 (GRCm39) |
T1311I |
probably damaging |
Het |
| Xpot |
A |
T |
10: 121,447,405 (GRCm39) |
Y353* |
probably null |
Het |
| Zfp319 |
A |
T |
8: 96,055,765 (GRCm39) |
L146Q |
probably damaging |
Het |
| Zfp422 |
T |
A |
6: 116,603,612 (GRCm39) |
H129L |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,808,015 (GRCm39) |
F2709L |
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 |
|
|
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 |
|
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'- CCTAGCCAAAGTAAGAGCTGTAGTC -3'
(R):5'- CAGCTTGTTGCCTTATGTGC -3'
Sequencing Primer
(F):5'- AGAGCTGTAGTCTAGCAAATCAC -3'
(R):5'- CTTCATCCTGTGGTGGCCAAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation