Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Aass'

238092

Institutional Source

Beutler Lab

Gene Symbol

Aass

Ensembl Gene

ENSMUSG00000029695

Gene Name

aminoadipate-semialdehyde synthase

Synonyms

LOR/SDH, Lorsdh

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23072172-23132985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23078865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 716 (S716P)

Ref Sequence

ENSEMBL: ENSMUSP00000031707 (fasta)

Gene Model

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

AlphaFold

Q99K67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031707
AA Change: S716P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: S716P

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: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	C	12: 118,831,691 (GRCm39)	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,676,857 (GRCm39)	E479D	probably damaging	Het
Actn1	A	T	12: 80,218,576 (GRCm39)	L736*	probably null	Het
Adcyap1	A	G	17: 93,507,454 (GRCm39)	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,714,409 (GRCm39)	N958S	possibly damaging	Het
Armc1	T	A	3: 19,188,225 (GRCm39)	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,796,266 (GRCm39)	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,319,591 (GRCm39)	Q1370K	probably damaging	Het
Cdip1	C	T	16: 4,587,927 (GRCm39)	S12N	probably benign	Het
Chrna3	T	A	9: 54,923,329 (GRCm39)	I160F	probably damaging	Het
Cnot1	A	G	8: 96,488,054 (GRCm39)	I534T	probably damaging	Het
Cr2	T	A	1: 194,845,689 (GRCm39)	I465F	possibly damaging	Het
Daw1	A	G	1: 83,170,384 (GRCm39)	D232G	probably benign	Het
Dcaf6	T	C	1: 165,250,433 (GRCm39)	T144A	probably benign	Het
Dhx30	A	T	9: 109,915,186 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,645,034 (GRCm39)	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,253,856 (GRCm39)	T184A	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edem3	T	A	1: 151,672,634 (GRCm39)	V450D	probably damaging	Het
Ephb6	G	T	6: 41,593,019 (GRCm39)	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811 (GRCm39)	P608R	probably damaging	Het
Flrt1	A	G	19: 7,073,194 (GRCm39)	I451T	probably damaging	Het
Gm6309	A	T	5: 146,105,681 (GRCm39)	V161E	possibly damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Igsf1	C	A	X: 48,872,027 (GRCm39)	L714F	probably damaging	Het
Inpp4b	C	T	8: 82,723,931 (GRCm39)	P488S	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Itprid1	A	T	6: 55,944,704 (GRCm39)	Q475L	probably benign	Het
Kdm2a	A	T	19: 4,406,959 (GRCm39)		probably null	Het
Khdrbs3	G	T	15: 68,964,809 (GRCm39)	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,758,930 (GRCm39)		probably null	Het
Laptm4a	T	C	12: 8,972,296 (GRCm39)		probably null	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc37	A	C	11: 103,509,793 (GRCm39)		probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myo18a	A	G	11: 77,709,441 (GRCm39)	D138G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,587 (GRCm39)	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720 (GRCm39)	R719H	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or2a54	T	C	6: 43,092,999 (GRCm39)	S108P	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or8g23	A	T	9: 38,971,701 (GRCm39)	I87K	probably benign	Het
Pclo	C	T	5: 14,763,862 (GRCm39)	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,634,931 (GRCm39)	N477S	probably benign	Het
Phf20	T	C	2: 156,118,574 (GRCm39)	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,021,680 (GRCm39)		probably null	Het
Plagl1	A	C	10: 13,004,685 (GRCm39)		probably benign	Het
Ppip5k2	A	G	1: 97,671,835 (GRCm39)	V479A	probably damaging	Het
Prkdc	A	C	16: 15,516,688 (GRCm39)	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,724,467 (GRCm39)	V6I	probably benign	Het
Rictor	A	T	15: 6,789,095 (GRCm39)	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,113,772 (GRCm39)		probably null	Het
Setd5	C	T	6: 113,088,390 (GRCm39)	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,443,465 (GRCm39)	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,396 (GRCm39)	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,709,301 (GRCm39)	A52T	probably damaging	Het
Srebf1	T	C	11: 60,111,365 (GRCm39)	D2G	probably damaging	Het
Stab1	A	T	14: 30,864,757 (GRCm39)	M66K	probably benign	Het
Stab1	T	C	14: 30,881,227 (GRCm39)	N601S	probably damaging	Het
Sv2b	C	T	7: 74,773,836 (GRCm39)	G545D	probably damaging	Het
Syt5	G	A	7: 4,546,088 (GRCm39)	Q101*	probably null	Het
Thada	A	G	17: 84,753,949 (GRCm39)	F341L	probably benign	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413 (GRCm39)		probably null	Het
Tonsl	G	T	15: 76,516,880 (GRCm39)	L917M	probably damaging	Het
Ttk	A	G	9: 83,744,236 (GRCm39)	K519E	probably damaging	Het
Ttn	T	C	2: 76,537,478 (GRCm39)	T34817A	probably benign	Het
Ubr1	A	T	2: 120,756,528 (GRCm39)	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566 (GRCm39)	C1312*	probably null	Het
Usp36	A	G	11: 118,175,849 (GRCm39)	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,283,403 (GRCm39)	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,723,147 (GRCm39)	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,085,121 (GRCm39)	F289L	probably benign	Het
Ythdf3	T	C	3: 16,257,375 (GRCm39)		probably benign	Het
Zfp507	T	A	7: 35,494,268 (GRCm39)	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,234,442 (GRCm39)	H156R	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
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
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'- GCCCTGATTAAACCAAATGGG -3'
(R):5'- CCCAGAGGAAACAAACTGTTGTG -3'

Sequencing Primer
(F):5'- TGGGTCATTACACACAATCAAGTC -3'
(R):5'- TCTGTCACACCCATGGAT -3'

Posted On

2014-10-02