Mutagenetix > Incidental Mutation

Incidental Mutation 'R0942:Aass'

82749

Institutional Source

Beutler Lab

Gene Symbol

Aass

Ensembl Gene

ENSMUSG00000029695

Gene Name

aminoadipate-semialdehyde synthase

Synonyms

LOR/SDH, Lorsdh

MMRRC Submission

039081-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0942 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23072172-23132985 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 23075151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031707 (fasta)

Gene Model

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

AlphaFold

Q99K67

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.7%
20x: 95.9%

Validation Efficiency

95% (40/42)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	C	T	9: 22,119,367 (GRCm39)		noncoding transcript	Het
Abcb5	C	A	12: 118,869,933 (GRCm39)	V742F	possibly damaging	Het
Abcd4	A	G	12: 84,659,602 (GRCm39)	I165T	probably damaging	Het
Acer3	T	C	7: 97,906,949 (GRCm39)	Y119C	probably damaging	Het
Ap3d1	A	T	10: 80,568,789 (GRCm39)		probably benign	Het
Ascc2	T	A	11: 4,618,380 (GRCm39)	I325N	probably benign	Het
Atad2b	T	A	12: 5,074,591 (GRCm39)	I1050N	probably damaging	Het
Brms1l	T	C	12: 55,912,742 (GRCm39)	V245A	probably benign	Het
Cadps2	T	A	6: 23,263,561 (GRCm39)	D1270V	probably damaging	Het
Cdh23	A	T	10: 60,246,639 (GRCm39)	M936K	possibly damaging	Het
Cenpj	A	G	14: 56,792,666 (GRCm39)		probably benign	Het
Dner	T	C	1: 84,563,030 (GRCm39)		probably benign	Het
Dzip1	T	A	14: 119,124,609 (GRCm39)	R555*	probably null	Het
Enpp4	A	T	17: 44,412,772 (GRCm39)	L254*	probably null	Het
Erich3	T	A	3: 154,444,788 (GRCm39)	D518E	probably benign	Het
Gli2	G	A	1: 118,765,236 (GRCm39)	R972C	probably damaging	Het
Gpc1	G	A	1: 92,785,031 (GRCm39)	R358H	possibly damaging	Het
Grb7	T	C	11: 98,344,634 (GRCm39)	Y346H	probably damaging	Het
Heg1	T	C	16: 33,581,173 (GRCm39)	L1192P	probably damaging	Het
Il16	T	A	7: 83,312,349 (GRCm39)	Q445L	probably benign	Het
Il17d	C	T	14: 57,779,777 (GRCm39)		probably benign	Het
Kmt2c	A	T	5: 25,520,301 (GRCm39)	N1936K	probably benign	Het
Lrrc45	T	C	11: 120,609,064 (GRCm39)		probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mphosph9	T	A	5: 124,400,100 (GRCm39)	R934*	probably null	Het
Nek11	T	A	9: 105,172,570 (GRCm39)		probably null	Het
Nf1	T	C	11: 79,329,537 (GRCm39)	S634P	probably benign	Het
Or14c40	T	A	7: 86,313,314 (GRCm39)	M148K	probably damaging	Het
Pkhd1l1	T	C	15: 44,396,355 (GRCm39)	V1959A	probably benign	Het
Pkp2	G	T	16: 16,043,894 (GRCm39)	G216V	probably benign	Het
Ppp1r16a	T	C	15: 76,578,211 (GRCm39)	L394P	probably damaging	Het
Ptprc	G	A	1: 137,996,139 (GRCm39)	Q1070*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rprd2	A	T	3: 95,672,730 (GRCm39)	I891N	probably damaging	Het
Speer1e	A	T	5: 11,236,488 (GRCm39)	T174S	probably benign	Het
Taf15	T	C	11: 83,389,932 (GRCm39)	I40T	probably damaging	Het
Tshz1	A	G	18: 84,031,178 (GRCm39)	Y1077H	probably damaging	Het
Ttn	T	C	2: 76,693,833 (GRCm39)	E223G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GGTGTGACAAGCTATTCTGGCAGAC -3'
(R):5'- ATATCATCTCCGCCCTGCGCTAAG -3'

Sequencing Primer
(F):5'- TGGCAGACAGACATTTGCTC -3'
(R):5'- CAGTGTCTCAGGAAGTCCAG -3'

Posted On

2013-11-08