Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00916:Aass'

27611

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 #

IGL00916

Quality Score

Status

Chromosome

Chromosomal Location

23072172-23132985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23075851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 762 (Q762L)

Ref Sequence

ENSEMBL: ENSMUSP00000031707 (fasta)

Gene Model

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

AlphaFold

Q99K67

Predicted Effect

probably benign
Transcript: ENSMUST00000031707
AA Change: Q762L

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: Q762L

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	C	19: 20,597,361 (GRCm39)	V114A	probably benign	Het
Ano4	T	C	10: 88,833,960 (GRCm39)	I459V	probably benign	Het
Atad5	C	T	11: 80,009,826 (GRCm39)	P1199S	probably damaging	Het
Bmp10	T	C	6: 87,406,142 (GRCm39)	F43S	possibly damaging	Het
Cd96	T	C	16: 45,861,675 (GRCm39)	E505G	probably benign	Het
Eapp	T	C	12: 54,739,593 (GRCm39)	T75A	possibly damaging	Het
Emilin1	T	C	5: 31,071,246 (GRCm39)	Y10H	probably damaging	Het
Ercc6	A	G	14: 32,284,612 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,113,923 (GRCm39)	I1089V	possibly damaging	Het
H6pd	C	A	4: 150,078,925 (GRCm39)		probably null	Het
Igsf10	A	T	3: 59,238,548 (GRCm39)	F544L	probably damaging	Het
Il23r	T	C	6: 67,450,915 (GRCm39)	Y188C	probably damaging	Het
Ilrun	A	G	17: 27,986,893 (GRCm39)	Y278H	probably damaging	Het
Inpp5j	T	C	11: 3,452,389 (GRCm39)	E287G	probably damaging	Het
Lrp6	T	C	6: 134,461,252 (GRCm39)	D735G	probably damaging	Het
Mast2	A	T	4: 116,184,830 (GRCm39)	M240K	possibly damaging	Het
Mreg	T	A	1: 72,203,291 (GRCm39)	T96S	probably benign	Het
Mta2	A	T	19: 8,924,465 (GRCm39)	M220L	probably benign	Het
Mycbp2	A	G	14: 103,528,719 (GRCm39)		probably benign	Het
Naip2	T	A	13: 100,297,939 (GRCm39)	N699I	probably damaging	Het
Ncapg	T	G	5: 45,828,534 (GRCm39)	I95S	probably benign	Het
Ndufa13	A	G	8: 70,347,069 (GRCm39)		probably benign	Het
Nol10	T	A	12: 17,411,130 (GRCm39)		probably benign	Het
Parp8	T	A	13: 117,063,859 (GRCm39)	I85F	probably damaging	Het
Rgs2	T	A	1: 143,877,967 (GRCm39)	I78F	probably damaging	Het
Rpia	C	T	6: 70,752,086 (GRCm39)		probably benign	Het
Sec63	T	C	10: 42,688,453 (GRCm39)	S488P	possibly damaging	Het
Tfcp2	T	G	15: 100,418,559 (GRCm39)	H201P	probably damaging	Het
Tnfaip2	T	G	12: 111,419,983 (GRCm39)	I705R	probably damaging	Het
Ttf1	A	G	2: 28,960,054 (GRCm39)	N554S	probably benign	Het
Ulk1	A	G	5: 110,940,877 (GRCm39)	S351P	probably damaging	Het
Zp2	T	A	7: 119,737,397 (GRCm39)	N264Y	probably damaging	Het

Other mutations in Aass

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-04-17