Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02948:Aass'

364867

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

NCBI RefSeq: NM_013930.4; MGI:1353573

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02948

Quality Score

Status

Chromosome

Chromosomal Location

23072173-23132986 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 23094319 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115079 (fasta)

Gene Model

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

Predicted Effect

probably benign
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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano3	A	T	2: 110,697,018		probably benign	Het
Arpp21	T	C	9: 112,176,200	Y193C	probably damaging	Het
Atm	G	A	9: 53,453,440		probably benign	Het
Ceacam13	C	T	7: 18,011,063		probably benign	Het
Cenpi	T	A	X: 134,349,268	C599S	possibly damaging	Het
Clec7a	A	C	6: 129,465,478	D195E	possibly damaging	Het
Cnksr1	T	C	4: 134,235,106		probably null	Het
Cntn1	A	G	15: 92,246,010	T285A	probably benign	Het
Dusp4	G	T	8: 34,818,572	G329V	probably damaging	Het
Emb	C	A	13: 117,273,066		probably benign	Het
Esyt1	A	T	10: 128,519,171	S496T	probably damaging	Het
Evpl	T	C	11: 116,221,822	T1681A	probably damaging	Het
Fam131b	A	C	6: 42,320,992		probably benign	Het
Fam162b	T	C	10: 51,587,296	M92V	probably damaging	Het
Fbxw2	T	C	2: 34,805,711	*455W	probably null	Het
Gm12886	A	G	4: 121,423,037	L14P	unknown	Het
Gpc4	A	T	X: 52,074,301	V235E	probably damaging	Het
Gss	A	G	2: 155,577,621	L170P	probably damaging	Het
Hbs1l	C	T	10: 21,341,711		probably benign	Het
Hhatl	T	C	9: 121,789,791	M92V	probably benign	Het
Hhla1	A	T	15: 65,942,693	L194H	probably damaging	Het
Hivep2	C	A	10: 14,129,013	R452S	probably benign	Het
Homer2	C	A	7: 81,649,645	W24L	probably damaging	Het
Lhcgr	A	T	17: 88,742,622	L492H	probably damaging	Het
Lrba	C	A	3: 86,310,384		probably null	Het
Lrp2	G	T	2: 69,487,837	P2090Q	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Madd	T	A	2: 91,142,827	M1497L	probably benign	Het
Naprt	C	T	15: 75,892,357	R336Q	probably damaging	Het
Nars	A	G	18: 64,505,195	C266R	possibly damaging	Het
Olfr1420	T	A	19: 11,896,781	Y253*	probably null	Het
Olfr175-ps1	T	A	16: 58,824,088	Q207L	probably benign	Het
Pard3	A	T	8: 127,306,494	T190S	probably benign	Het
Pstpip2	A	G	18: 77,854,807	N86S	probably benign	Het
Ptgfrn	T	C	3: 101,072,819	T402A	probably benign	Het
Rnf130	T	C	11: 50,052,771		probably benign	Het
Ropn1l	T	C	15: 31,451,179	D53G	possibly damaging	Het
Rps6ka2	G	A	17: 7,254,450		probably null	Het
Rtn2	T	C	7: 19,293,111	S17P	probably damaging	Het
Shank2	T	C	7: 144,409,636	V327A	probably benign	Het
Slc22a16	T	G	10: 40,573,962	Y131*	probably null	Het
Slc28a2	T	A	2: 122,457,977	M583K	possibly damaging	Het
Slco1a6	G	T	6: 142,133,235		probably null	Het
Slfn8	T	A	11: 83,003,252	I854F	probably damaging	Het
Strip1	T	C	3: 107,613,266	R823G	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tcl1b5	C	T	12: 105,179,014	T79M	probably benign	Het
Tmem104	G	T	11: 115,197,296	A36S	probably damaging	Het
Trim55	T	A	3: 19,670,952	L211Q	probably damaging	Het
Trim80	T	C	11: 115,441,593	W204R	possibly damaging	Het
Ttbk1	G	A	17: 46,446,330	T1126I	probably benign	Het
Ubqln2	C	T	X: 153,499,696	Q415*	probably null	Het
Unc13a	C	T	8: 71,650,549	R931H	possibly damaging	Het
Utp4	T	A	8: 106,894,641	S17T	probably benign	Het

Other mutations in Aass

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Aass	APN	6	23075852	missense	probably benign	0.10
IGL01465:Aass	APN	6	23114839	critical splice donor site	probably null
IGL01617:Aass	APN	6	23115150	missense	possibly damaging	0.89
IGL01810:Aass	APN	6	23107634	missense	probably damaging	0.99
IGL02024:Aass	APN	6	23113706	missense	probably damaging	1.00
IGL02167:Aass	APN	6	23122722	intron	probably benign
IGL02339:Aass	APN	6	23093966	missense	probably damaging	0.99
IGL02720:Aass	APN	6	23122703	intron	probably benign
IGL02877:Aass	APN	6	23078876	nonsense	probably null
PIT4651001:Aass	UTSW	6	23118751	missense	probably benign	0.00
R0152:Aass	UTSW	6	23074689	missense	probably damaging	1.00
R0196:Aass	UTSW	6	23109520	missense	probably damaging	1.00
R0546:Aass	UTSW	6	23077077	critical splice donor site	probably null
R0841:Aass	UTSW	6	23075811	missense	probably benign
R0848:Aass	UTSW	6	23114985	missense	probably damaging	0.98
R0942:Aass	UTSW	6	23075152	splice site	probably benign
R1082:Aass	UTSW	6	23093908	missense	probably damaging	1.00
R1159:Aass	UTSW	6	23115138	missense	probably damaging	0.99
R1730:Aass	UTSW	6	23121019	missense	probably damaging	1.00
R1818:Aass	UTSW	6	23075858	critical splice acceptor site	probably null
R1906:Aass	UTSW	6	23072985	missense	probably benign	0.00
R2004:Aass	UTSW	6	23092562	nonsense	probably null
R2191:Aass	UTSW	6	23078866	missense	possibly damaging	0.91
R3690:Aass	UTSW	6	23091329	missense	probably benign	0.09
R3843:Aass	UTSW	6	23092496	nonsense	probably null
R3879:Aass	UTSW	6	23122521	missense	probably damaging	1.00
R4080:Aass	UTSW	6	23109498	missense	possibly damaging	0.83
R4081:Aass	UTSW	6	23109498	missense	possibly damaging	0.83
R4082:Aass	UTSW	6	23109498	missense	possibly damaging	0.83
R4348:Aass	UTSW	6	23113739	missense	probably benign	0.03
R4622:Aass	UTSW	6	23092330	missense	probably damaging	1.00
R4701:Aass	UTSW	6	23075856	nonsense	probably null
R4823:Aass	UTSW	6	23107691	missense	probably benign
R5108:Aass	UTSW	6	23094208	missense	probably damaging	0.99
R5248:Aass	UTSW	6	23109438	missense	probably benign	0.08
R5481:Aass	UTSW	6	23113476	missense	probably benign	0.00
R5776:Aass	UTSW	6	23107650	missense	possibly damaging	0.66
R5883:Aass	UTSW	6	23072994	missense	probably benign	0.04
R6356:Aass	UTSW	6	23093902	missense	probably damaging	1.00
R6594:Aass	UTSW	6	23113433	missense	probably benign	0.00
R6784:Aass	UTSW	6	23093896	missense	probably null	1.00
R6855:Aass	UTSW	6	23114845	missense	probably damaging	0.97
R7184:Aass	UTSW	6	23094220	missense	possibly damaging	0.55
R7208:Aass	UTSW	6	23074630	missense	probably damaging	0.99
R7464:Aass	UTSW	6	23077153	missense	possibly damaging	0.69
R7750:Aass	UTSW	6	23075200	missense	possibly damaging	0.58
R7821:Aass	UTSW	6	23120930	missense	probably damaging	1.00
R8262:Aass	UTSW	6	23107710	missense	possibly damaging	0.94
R8303:Aass	UTSW	6	23092368	missense	probably benign	0.03
R8430:Aass	UTSW	6	23078982	missense	probably benign	0.01
R8817:Aass	UTSW	6	23097196	nonsense	probably null
Z1176:Aass	UTSW	6	23078857	missense	probably damaging	1.00

Posted On

2015-12-18