Mutagenetix > Incidental Mutation

Incidental Mutation 'R1082:Aass'

85864

Institutional Source

Beutler Lab

Gene Symbol

Aass

Ensembl Gene

ENSMUSG00000029695

Gene Name

aminoadipate-semialdehyde synthase

Synonyms

LOR/SDH, Lorsdh

MMRRC Submission

039168-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23072172-23132985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23093907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 138 (D138V)

Ref Sequence

ENSEMBL: ENSMUSP00000115079 (fasta)

Gene Model

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

AlphaFold

Q99K67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031707
AA Change: D548V

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: D548V

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 damaging
Transcript: ENSMUST00000149864
AA Change: D138V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115079
Gene: ENSMUSG00000029695
AA Change: D138V

Domain	Start	End	E-Value	Type
Pfam:Saccharop_dh	73	209	8.2e-45	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.1%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	G	A	3: 137,879,332 (GRCm39)	R239C	possibly damaging	Het
Adam30	T	C	3: 98,069,606 (GRCm39)	S480P	probably benign	Het
Bdkrb2	T	A	12: 105,558,851 (GRCm39)	M364K	probably benign	Het
Bnc2	T	C	4: 84,464,572 (GRCm39)	D67G	probably damaging	Het
Cfap52	A	G	11: 67,815,998 (GRCm39)	I595T	probably damaging	Het
Clspn	A	T	4: 126,471,572 (GRCm39)	N909Y	possibly damaging	Het
Ddx46	T	C	13: 55,802,909 (GRCm39)	V477A	possibly damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Dnah3	A	G	7: 119,677,668 (GRCm39)	S419P	probably damaging	Het
Fat3	A	G	9: 15,917,911 (GRCm39)	F1504S	probably damaging	Het
Guf1	G	T	5: 69,724,555 (GRCm39)	V416L	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,783 (GRCm39)	D298G	probably damaging	Het
Mipol1	A	T	12: 57,372,402 (GRCm39)	I154F	probably damaging	Het
Myo18b	A	G	5: 112,908,280 (GRCm39)	S1998P	probably damaging	Het
Myo6	C	T	9: 80,195,303 (GRCm39)	T891M	probably damaging	Het
Nbeal1	T	A	1: 60,351,385 (GRCm39)	I2461K	probably damaging	Het
Notch4	T	C	17: 34,806,364 (GRCm39)	F1767S	probably damaging	Het
Or7e178	A	T	9: 20,225,765 (GRCm39)	H150Q	possibly damaging	Het
Pi4ka	A	T	16: 17,207,216 (GRCm39)	S30T	probably damaging	Het
Ppp1r26	A	G	2: 28,342,146 (GRCm39)	D592G	probably damaging	Het
Ptp4a2	T	C	4: 129,741,580 (GRCm39)	F157L	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Shank3	T	C	15: 89,433,574 (GRCm39)	S1365P	probably damaging	Het
Slc27a6	T	A	18: 58,689,632 (GRCm39)	Y33N	probably damaging	Het
Slco1a7	C	T	6: 141,657,859 (GRCm39)	G560S	probably damaging	Het
Speg	T	A	1: 75,391,782 (GRCm39)	S1572T	possibly damaging	Het
Taf6	G	A	5: 138,180,949 (GRCm39)	R211C	possibly damaging	Het
Tyrobp	T	C	7: 30,114,033 (GRCm39)	S65P	probably 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
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'- GCTCACCCGTGAGTGTGCAAATAAA -3'
(R):5'- TGTGGAGCTATGAAAATGTCTCCAGTG -3'

Sequencing Primer
(F):5'- caaggaggaaagagagacagg -3'
(R):5'- TGTCTCCAGTGGAATGAAATCTC -3'

Posted On

2013-11-18