Mutagenetix > Incidental Mutations

Incidental Mutation 'R0046:Aldob'

16126

Institutional Source

Beutler Lab

Gene Symbol

Aldob

Ensembl Gene

ENSMUSG00000028307

Gene Name

aldolase B, fructose-bisphosphate

Synonyms

Aldo2, Aldo-2

MMRRC Submission

038340-MU

Accession Numbers

NCBI RefSeq: NM_144903.2; MGI:87995

Is this an essential gene?

Possibly non essential (E-score: 0.414) question?

Stock #

R0046 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

49535995-49549546 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49543842 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 47 (I47V)

Ref Sequence

ENSEMBL: ENSMUSP00000029987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029987]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029987
AA Change: I47V

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029987
Gene: ENSMUSG00000028307
AA Change: I47V

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	364	1.8e-178	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148415

Meta Mutation Damage Score

0.2945

Coding Region Coverage

1x: 89.2%
3x: 86.2%
10x: 78.3%
20x: 64.0%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: This gene encodes a subunit of the homotetrameric enzyme aldolase B, an isozyme of the class I fructose 1,6-bisphosphate aldolase enzyme. This enzyme catalyzes the conversion of fructose 1,6-bisphosphate to dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. Homozygous knockout mice for this gene exhibit liver damage and death following fructose ingestion. A pseudogene of this gene has been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Following exposure to a 40% fructose diet, mice homozygous for a null allele exhibit failure to thrive, liver pathology and dysfunction, and a high mortality rate. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Alkbh8	A	G	9: 3,343,247	E46G	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Auts2	T	C	5: 131,770,785		noncoding transcript	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Ccdc39	A	G	3: 33,844,152	F15L	possibly damaging	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832		probably benign	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726	N275I	probably damaging	Het
Farp1	A	G	14: 121,255,513	K509R	probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gm19410	A	G	8: 35,802,645	E1148G	probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Ly75	A	T	2: 60,339,457		probably benign	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Zbtb40	A	G	4: 136,987,278	C1067R	probably damaging	Het

Other mutations in Aldob

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Aldob	APN	4	49536843	missense	probably benign	0.01
IGL00774:Aldob	APN	4	49536843	missense	probably benign	0.01
IGL00976:Aldob	APN	4	49541220	missense	probably damaging	1.00
IGL02118:Aldob	APN	4	49538790	nonsense	probably null
IGL02494:Aldob	APN	4	49541138	missense	possibly damaging	0.92
IGL03001:Aldob	APN	4	49542844	missense	probably damaging	1.00
despondent	UTSW	4	49539789	missense	probably damaging	1.00
Saddened	UTSW	4	49538796	missense	probably benign
P0014:Aldob	UTSW	4	49538153	missense	probably benign	0.34
R0046:Aldob	UTSW	4	49543842	missense	possibly damaging	0.83
R1770:Aldob	UTSW	4	49536861	missense	probably damaging	1.00
R1867:Aldob	UTSW	4	49543835	missense	possibly damaging	0.84
R1975:Aldob	UTSW	4	49538171	missense	probably benign	0.06
R6519:Aldob	UTSW	4	49543835	missense	probably damaging	1.00
R6858:Aldob	UTSW	4	49538796	missense	probably benign
R6897:Aldob	UTSW	4	49539789	missense	probably damaging	1.00
R7106:Aldob	UTSW	4	49541258	missense	probably damaging	1.00
R7846:Aldob	UTSW	4	49538858	missense	probably damaging	1.00
R8195:Aldob	UTSW	4	49538822	missense	probably damaging	1.00

Posted On

2013-01-08