Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01465:Aass'

88099

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aass

Ensembl Gene

ENSMUSG00000029695

Gene Name

aminoadipate-semialdehyde synthase

Synonyms

LOR/SDH, Lorsdh

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01465

Quality Score

Status

Chromosome

Chromosomal Location

23072172-23132985 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 23114838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031707] [ENSMUST00000149864]

AlphaFold

Q99K67

Predicted Effect

probably null
Transcript: ENSMUST00000031707

SMART Domains

Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695

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

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abracl	A	T	10: 17,887,399 (GRCm39)	I76N	probably damaging	Het
Akap12	C	T	10: 4,306,886 (GRCm39)	T1232I	probably damaging	Het
Clcn6	A	T	4: 148,105,908 (GRCm39)		probably benign	Het
Cpsf2	C	A	12: 101,963,592 (GRCm39)	D440E	probably damaging	Het
Csf2ra	A	G	19: 61,214,436 (GRCm39)	V243A	possibly damaging	Het
Cyp4f18	T	A	8: 72,756,288 (GRCm39)	H96L	probably benign	Het
Dvl2	T	A	11: 69,897,180 (GRCm39)	I294N	probably damaging	Het
Fbn2	T	A	18: 58,336,905 (GRCm39)	N117Y	probably null	Het
Gdpd3	A	G	7: 126,367,829 (GRCm39)	I221V	possibly damaging	Het
Grk2	A	T	19: 4,340,886 (GRCm39)	C221S	probably damaging	Het
Idi1	T	C	13: 8,940,415 (GRCm39)	I199T	probably benign	Het
Klhl6	T	C	16: 19,801,572 (GRCm39)	E61G	probably damaging	Het
Lig1	T	A	7: 13,030,317 (GRCm39)	S431R	probably benign	Het
Lrg1	T	C	17: 56,427,705 (GRCm39)	E89G	probably benign	Het
Lrrk2	A	G	15: 91,613,128 (GRCm39)	K751E	probably benign	Het
Macf1	T	A	4: 123,384,514 (GRCm39)	T1128S	probably benign	Het
Nphs1	T	C	7: 30,186,139 (GRCm39)	*1243R	probably null	Het
Rere	G	A	4: 150,594,451 (GRCm39)	V354I	unknown	Het
Safb	A	G	17: 56,909,974 (GRCm39)		probably benign	Het
Slc2a10	C	A	2: 165,359,597 (GRCm39)	A487D	possibly damaging	Het
Slc7a12	T	A	3: 14,564,383 (GRCm39)	S85R	possibly damaging	Het
Sorbs3	G	A	14: 70,432,958 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,600,135 (GRCm39)	M19013T	probably damaging	Het
Utp4	A	G	8: 107,621,330 (GRCm39)	T36A	probably benign	Het
Vmn2r111	A	T	17: 22,767,718 (GRCm39)	F593Y	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
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
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

Posted On

2013-11-18