Incidental Mutation 'R7208:Aass'
| ID |
560860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aass
|
| Ensembl Gene |
ENSMUSG00000029695 |
| Gene Name |
aminoadipate-semialdehyde synthase |
| Synonyms |
LOR/SDH, Lorsdh |
| MMRRC Submission |
045285-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7208 (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 23074629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 854
(K854E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031707]
|
| AlphaFold |
Q99K67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031707
AA Change: K854E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: K854E
| 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: 98.4%
|
| Validation Efficiency |
99% (76/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
G |
T |
15: 91,074,885 (GRCm39) |
Y309* |
probably null |
Het |
| Ache |
G |
A |
5: 137,289,751 (GRCm39) |
G360D |
probably damaging |
Het |
| Acot12 |
T |
C |
13: 91,929,361 (GRCm39) |
L396P |
probably benign |
Het |
| Acox2 |
T |
G |
14: 8,241,303 (GRCm38) |
D603A |
probably benign |
Het |
| Adam3 |
C |
A |
8: 25,201,417 (GRCm39) |
K245N |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,758,081 (GRCm39) |
I925T |
probably benign |
Het |
| Arhgap27 |
C |
T |
11: 103,251,585 (GRCm39) |
V48M |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,423,308 (GRCm39) |
|
probably null |
Het |
| B4galt4 |
T |
A |
16: 38,574,302 (GRCm39) |
F92Y |
probably damaging |
Het |
| Brwd1 |
C |
T |
16: 95,837,159 (GRCm39) |
R891Q |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,687,612 (GRCm39) |
Q462R |
probably benign |
Het |
| Ccdc112 |
T |
C |
18: 46,420,698 (GRCm39) |
R351G |
probably damaging |
Het |
| Ccdc80 |
T |
G |
16: 44,917,073 (GRCm39) |
S610A |
probably benign |
Het |
| Cdh20 |
C |
A |
1: 104,881,796 (GRCm39) |
N420K |
possibly damaging |
Het |
| Cntn3 |
G |
A |
6: 102,255,383 (GRCm39) |
R172* |
probably null |
Het |
| Ctnnd1 |
G |
T |
2: 84,452,390 (GRCm39) |
Q78K |
possibly damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,372,814 (GRCm39) |
L41H |
probably damaging |
Het |
| Dclk2 |
A |
T |
3: 86,706,909 (GRCm39) |
|
probably null |
Het |
| Dmwd |
C |
T |
7: 18,814,234 (GRCm39) |
H295Y |
probably benign |
Het |
| Dnai2 |
T |
C |
11: 114,647,988 (GRCm39) |
V588A |
unknown |
Het |
| Dnai4 |
T |
G |
4: 102,923,549 (GRCm39) |
I427L |
probably benign |
Het |
| Dtx4 |
C |
T |
19: 12,459,437 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
C |
A |
9: 7,141,059 (GRCm39) |
D1323Y |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,803,446 (GRCm39) |
H1683Q |
probably benign |
Het |
| Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Het |
| Gm9195 |
A |
G |
14: 72,689,192 (GRCm39) |
S1876P |
possibly damaging |
Het |
| Grhl2 |
A |
C |
15: 37,335,980 (GRCm39) |
K431T |
probably damaging |
Het |
| Grm7 |
T |
G |
6: 111,335,530 (GRCm39) |
I647S |
possibly damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,439,948 (GRCm39) |
N94S |
probably benign |
Het |
| Gvin2 |
A |
C |
7: 105,551,386 (GRCm39) |
S555R |
possibly damaging |
Het |
| Hmgcs1 |
G |
T |
13: 120,162,620 (GRCm39) |
G195W |
probably damaging |
Het |
| Hrc |
A |
T |
7: 44,985,989 (GRCm39) |
Y380F |
possibly damaging |
Het |
| Kcnu1 |
C |
T |
8: 26,409,665 (GRCm39) |
Q863* |
probably null |
Het |
| Lemd2 |
G |
A |
17: 27,415,165 (GRCm39) |
P300L |
probably damaging |
Het |
| Lnpep |
A |
T |
17: 17,773,172 (GRCm39) |
Y665* |
probably null |
Het |
| Lrfn1 |
A |
G |
7: 28,166,564 (GRCm39) |
T653A |
probably benign |
Het |
| Ly6g6c |
A |
G |
17: 35,286,387 (GRCm39) |
T8A |
unknown |
Het |
| Mcm5 |
T |
C |
8: 75,848,344 (GRCm39) |
|
probably null |
Het |
| Med28 |
A |
T |
5: 45,680,794 (GRCm39) |
D86V |
probably damaging |
Het |
| Mup11 |
A |
G |
4: 60,615,725 (GRCm39) |
S171P |
possibly damaging |
Het |
| Nckap1 |
A |
G |
2: 80,370,542 (GRCm39) |
F383L |
probably benign |
Het |
| Nid1 |
G |
C |
13: 13,642,970 (GRCm39) |
G303R |
probably benign |
Het |
| Nkain3 |
A |
G |
4: 20,282,892 (GRCm39) |
V147A |
probably benign |
Het |
| Or12k8 |
A |
G |
2: 36,975,670 (GRCm39) |
V30A |
probably benign |
Het |
| Pde9a |
G |
A |
17: 31,639,258 (GRCm39) |
V63I |
possibly damaging |
Het |
| Pdlim2 |
T |
A |
14: 70,411,826 (GRCm39) |
I69F |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
T |
C |
15: 66,476,638 (GRCm39) |
I245T |
probably benign |
Het |
| Prmt8 |
C |
T |
6: 127,666,792 (GRCm39) |
R394H |
possibly damaging |
Het |
| Prorp |
A |
G |
12: 55,355,430 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,067,994 (GRCm39) |
D274E |
unknown |
Het |
| Psmd6 |
A |
T |
14: 14,112,225 (GRCm38) |
|
probably null |
Het |
| Rgs16 |
T |
C |
1: 153,617,416 (GRCm39) |
L69P |
probably damaging |
Het |
| Robo3 |
A |
T |
9: 37,336,020 (GRCm39) |
I482N |
probably damaging |
Het |
| Scara3 |
C |
T |
14: 66,168,715 (GRCm39) |
V301I |
possibly damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,553 (GRCm39) |
H397L |
probably benign |
Het |
| Skint11 |
T |
A |
4: 114,088,944 (GRCm39) |
L246Q |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,396,536 (GRCm39) |
R1212S |
unknown |
Het |
| Slc11a2 |
T |
C |
15: 100,300,213 (GRCm39) |
D348G |
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,576,643 (GRCm39) |
K495E |
probably benign |
Het |
| Son |
T |
G |
16: 91,458,990 (GRCm39) |
D2072E |
unknown |
Het |
| Stau1 |
A |
G |
2: 166,805,494 (GRCm39) |
V34A |
probably damaging |
Het |
| Stk3 |
G |
T |
15: 35,073,262 (GRCm39) |
L153I |
possibly damaging |
Het |
| Swi5 |
A |
T |
2: 32,177,922 (GRCm39) |
V13E |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,078,172 (GRCm39) |
|
probably null |
Het |
| Synm |
T |
C |
7: 67,384,663 (GRCm39) |
M558V |
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,062,013 (GRCm39) |
|
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,667,151 (GRCm39) |
V149A |
probably benign |
Het |
| Tmem214 |
T |
A |
5: 31,028,065 (GRCm39) |
V95E |
possibly damaging |
Het |
| Tnnt2 |
T |
A |
1: 135,778,114 (GRCm39) |
|
probably null |
Het |
| Txlna |
A |
G |
4: 129,525,071 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,948 (GRCm39) |
I841T |
probably damaging |
Het |
| Wasf2 |
G |
A |
4: 132,923,045 (GRCm39) |
V452I |
probably damaging |
Het |
| Wdr62 |
C |
T |
7: 29,951,761 (GRCm39) |
D673N |
probably damaging |
Het |
| Wdr95 |
C |
T |
5: 149,518,836 (GRCm39) |
T559I |
probably benign |
Het |
| Zbtb40 |
A |
T |
4: 136,726,937 (GRCm39) |
|
probably null |
Het |
| Zfat |
T |
C |
15: 68,051,856 (GRCm39) |
E646G |
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 |
|
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'- CCAGGTATTCTCCAAGATGGC -3'
(R):5'- GGGTCTCTGGGAGAAAAGCATC -3'
Sequencing Primer
(F):5'- AGGTATTCTCCAAGATGGCTCATTTC -3'
(R):5'- CTGGGAGAAAAGCATCATAGTTATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation