Mutagenetix > Incidental Mutation

Incidental Mutation 'R9704:Aass'

729708

Institutional Source

Beutler Lab

Gene Symbol

Aass

Ensembl Gene

ENSMUSG00000029695

Gene Name

aminoadipate-semialdehyde synthase

Synonyms

LOR/SDH, Lorsdh

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9704 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23072172-23132985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23120887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 126 (V126F)

Ref Sequence

ENSEMBL: ENSMUSP00000031707 (fasta)

Gene Model

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

AlphaFold

Q99K67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031707
AA Change: V126F

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: V126F

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

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,588,913 (GRCm39)	P110L	probably damaging	Het
Adamts13	G	T	2: 26,895,237 (GRCm39)	Q1109H		Het
Ccdc57	A	C	11: 120,764,531 (GRCm39)	V748G	probably damaging	Het
Dclk2	A	G	3: 86,827,387 (GRCm39)	S31P	possibly damaging	Het
Dnah5	C	G	15: 28,247,965 (GRCm39)	P701A	probably benign	Het
Epc1	T	C	18: 6,440,130 (GRCm39)	T642A	probably damaging	Het
Fam149a	G	A	8: 45,795,502 (GRCm39)	R670W	probably benign	Het
Fgfr1	A	G	8: 26,063,579 (GRCm39)	D646G	probably benign	Het
Gabrr2	G	A	4: 33,063,305 (GRCm39)	V43M	possibly damaging	Het
Gli3	T	A	13: 15,898,058 (GRCm39)	C713S	probably damaging	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hk3	A	G	13: 55,160,253 (GRCm39)		probably null	Het
Ighv2-9	T	A	12: 113,842,746 (GRCm39)	D107V	possibly damaging	Het
Jak2	C	A	19: 29,275,730 (GRCm39)	C723*	probably null	Het
Lcor	T	C	19: 41,572,498 (GRCm39)	S418P	possibly damaging	Het
Lnx1	A	T	5: 74,780,879 (GRCm39)	V214E	probably benign	Het
Luzp1	T	A	4: 136,268,604 (GRCm39)	S276T	probably benign	Het
Meig1	A	G	2: 3,410,336 (GRCm39)	Y55H	probably damaging	Het
Myh2	A	T	11: 67,071,617 (GRCm39)	Q478L	possibly damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nxph2	T	C	2: 23,289,723 (GRCm39)	V25A	probably benign	Het
Onecut1	G	A	9: 74,770,258 (GRCm39)	G227D	probably benign	Het
Phf2	G	T	13: 48,959,374 (GRCm39)	D877E	unknown	Het
Pik3cd	C	A	4: 149,739,839 (GRCm39)	R548L	probably benign	Het
Pp2d1	T	C	17: 53,822,907 (GRCm39)	E53G	probably benign	Het
Rtel1	C	T	2: 180,993,905 (GRCm39)	Q830*	probably null	Het
Ryr2	T	C	13: 11,737,646 (GRCm39)	Y2219C	probably damaging	Het
Spag11b	A	G	8: 19,191,474 (GRCm39)	N49S	probably benign	Het
Srd5a1	T	A	13: 69,743,086 (GRCm39)	I167F	probably damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Sv2b	T	G	7: 74,797,420 (GRCm39)	M325L	possibly damaging	Het
Tpsb2	A	G	17: 25,585,834 (GRCm39)	I57M	probably benign	Het
Ttf2	T	C	3: 100,859,920 (GRCm39)	E678G	probably damaging	Het
Ulk2	A	G	11: 61,716,694 (GRCm39)	F270S	probably damaging	Het
Unc13b	G	A	4: 43,237,102 (GRCm39)	V603I	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
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
Z1176:Aass	UTSW	6	23,078,856 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGACACATTTATCCTCTACTTC -3'
(R):5'- CTTGGAGAGAGCATGAGTACTG -3'

Sequencing Primer
(F):5'- ATACCTCTCCATCAGGCA -3'
(R):5'- CAAATTGCGTCCCCAGGAGTATG -3'

Posted On

2022-10-06