Mutagenetix > Incidental Mutation

Incidental Mutation 'R3879:Aass'

308676

Institutional Source

Beutler Lab

Gene Symbol

Aass

Ensembl Gene

ENSMUSG00000029695

Gene Name

aminoadipate-semialdehyde synthase

Synonyms

LOR/SDH, Lorsdh

MMRRC Submission

040793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23072172-23132985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23122520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 68 (H68Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031707 (fasta)

Gene Model

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

AlphaFold

Q99K67

Predicted Effect

probably damaging
Transcript: ENSMUST00000031707
AA Change: H68Y

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

SMART Domains

Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: H68Y

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 benign
Transcript: ENSMUST00000149864

SMART Domains

Protein: ENSMUSP00000115079
Gene: ENSMUSG00000029695

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152280

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (38/40)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,970,561 (GRCm39)		probably benign	Het
Abcc8	T	A	7: 45,754,051 (GRCm39)	K1588N	possibly damaging	Het
Calcoco1	T	C	15: 102,615,823 (GRCm39)	D601G	probably damaging	Het
Ccdc175	C	A	12: 72,182,792 (GRCm39)	R409I	probably damaging	Het
Ccnl1	A	G	3: 65,856,179 (GRCm39)	V242A	possibly damaging	Het
Clasp2	T	C	9: 113,719,029 (GRCm39)	F705L	probably damaging	Het
Cyp46a1	A	G	12: 108,324,389 (GRCm39)	T389A	probably benign	Het
Eps8	A	G	6: 137,504,360 (GRCm39)		probably benign	Het
Gm9894	T	C	13: 67,912,916 (GRCm39)		noncoding transcript	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Nup153	A	T	13: 46,837,436 (GRCm39)	V1262E	probably damaging	Het
Nup210l	A	G	3: 90,092,780 (GRCm39)	T1245A	probably damaging	Het
Or10ad1b	C	T	15: 98,125,085 (GRCm39)	C147Y	probably damaging	Het
Or5b121	A	G	19: 13,507,613 (GRCm39)	Y236C	probably damaging	Het
Pcif1	G	A	2: 164,727,878 (GRCm39)	G189D	probably benign	Het
Pdzd2	A	G	15: 12,375,594 (GRCm39)	S1514P	probably damaging	Het
Pigu	A	T	2: 155,141,063 (GRCm39)	F276I	probably damaging	Het
Pramex1	T	C	X: 134,514,194 (GRCm39)	H365R	probably benign	Het
Psmd9	C	T	5: 123,372,653 (GRCm39)		probably benign	Het
Rasgrp2	A	T	19: 6,463,920 (GRCm39)	Q539H	probably benign	Het
Rgs22	T	G	15: 36,107,051 (GRCm39)	I112L	possibly damaging	Het
Slc26a9	A	T	1: 131,696,969 (GRCm39)	T786S	probably benign	Het
Sned1	A	G	1: 93,192,752 (GRCm39)		probably benign	Het
St7l	G	A	3: 104,833,763 (GRCm39)	V475I	probably damaging	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Top3a	A	G	11: 60,634,765 (GRCm39)	V713A	possibly damaging	Het
Trim16	G	A	11: 62,731,433 (GRCm39)	G348S	probably damaging	Het
Tshz3	C	T	7: 36,470,962 (GRCm39)	Q984*	probably null	Het
Ttn	A	G	2: 76,566,406 (GRCm39)		probably null	Het
Ubfd1	T	A	7: 121,667,999 (GRCm39)		probably benign	Het
Zfp37	A	T	4: 62,109,572 (GRCm39)	Y497*	probably null	Het
Zfp462	G	A	4: 55,060,095 (GRCm39)	C1207Y	probably damaging	Het
Zfp607b	A	G	7: 27,403,476 (GRCm39)	E644G	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
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
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'- AGGATGGATTCTCTGTATAAGCC -3'
(R):5'- CAGCTACCACATTTGAAGATGC -3'

Sequencing Primer
(F):5'- ATGGATTCTCTGTATAAGCCATCTC -3'
(R):5'- CTACCACATTTGAAGATGCTGAGAGC -3'

Posted On

2015-04-17