Mutagenetix > Incidental Mutation

Incidental Mutation 'R8811:Aldoc'

672419

Institutional Source

Beutler Lab

Gene Symbol

Aldoc

Ensembl Gene

ENSMUSG00000017390

Gene Name

aldolase C, fructose-bisphosphate

Synonyms

zebrin II, Aldolase C, Scrg2, Aldo3

MMRRC Submission

068646-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78213899-78218607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78215610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 98 (I98N)

Ref Sequence

ENSEMBL: ENSMUSP00000017534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017534] [ENSMUST00000045026] [ENSMUST00000048073] [ENSMUST00000102478]

AlphaFold

P05063

Predicted Effect

probably damaging
Transcript: ENSMUST00000017534
AA Change: I98N

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

SMART Domains

Protein: ENSMUSP00000017534
Gene: ENSMUSG00000017390
AA Change: I98N

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	363	2.6e-185	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045026

SMART Domains

Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055

Domain	Start	End	E-Value	Type
low complexity region	405	420	N/A	INTRINSIC
low complexity region	477	493	N/A	INTRINSIC
coiled coil region	514	547	N/A	INTRINSIC
coiled coil region	638	700	N/A	INTRINSIC
coiled coil region	743	854	N/A	INTRINSIC
low complexity region	898	912	N/A	INTRINSIC
coiled coil region	970	1006	N/A	INTRINSIC
coiled coil region	1032	1068	N/A	INTRINSIC
coiled coil region	1104	1140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048073

SMART Domains

Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958

Domain	Start	End	E-Value	Type
Pfam:PIG-S	22	547	3.3e-144	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102478
AA Change: I98N

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

SMART Domains

Protein: ENSMUSP00000099536
Gene: ENSMUSG00000017390
AA Change: I98N

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	363	5.5e-179	PFAM

Meta Mutation Damage Score

0.9606

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: This gene encodes a member of the aldolase family of enzymes that is mainly expressed in neuronal tissues. The encoded protein is an enzyme of the glycolysis pathway, and catalyzes the conversion of fructose-1,6-bisphosphate to glyceraldehyde-3-phosphate and dihydroxyacetone phosphate. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	G	17: 24,536,212 (GRCm39)	K485T	probably benign	Het
Abcc12	G	T	8: 87,280,023 (GRCm39)	L337M	probably damaging	Het
Adcy4	T	C	14: 56,010,221 (GRCm39)	D687G	probably benign	Het
Aoah	T	A	13: 21,184,121 (GRCm39)	V395D	probably damaging	Het
Arap1	C	T	7: 101,036,403 (GRCm39)	R397W	probably damaging	Het
Arl16	A	T	11: 120,357,526 (GRCm39)	M63K	probably damaging	Het
Atf7	T	C	15: 102,502,144 (GRCm39)	D4G	probably damaging	Het
Atp6v0d2	A	T	4: 19,922,397 (GRCm39)	V34D	probably benign	Het
Calhm4	T	A	10: 33,917,661 (GRCm39)	K263N	probably benign	Het
Camk1g	C	G	1: 193,044,408 (GRCm39)	G2A	probably damaging	Het
Cenpe	A	G	3: 134,929,001 (GRCm39)	T302A	probably damaging	Het
Cps1	T	C	1: 67,253,246 (GRCm39)	V1246A	probably benign	Het
Csmd3	T	C	15: 47,560,139 (GRCm39)	D1397G		Het
Ddx39b	T	A	17: 35,463,435 (GRCm39)	S115T	probably benign	Het
Dnaja3	C	A	16: 4,514,383 (GRCm39)	T305K	probably benign	Het
Dusp7	C	G	9: 106,248,241 (GRCm39)	H290D	probably benign	Het
Emilin2	T	A	17: 71,582,282 (GRCm39)	D148V	possibly damaging	Het
Erbin	C	T	13: 104,022,824 (GRCm39)	R5Q	probably damaging	Het
Fam3b	T	C	16: 97,313,715 (GRCm39)		probably benign	Het
Foxn3	T	C	12: 99,162,951 (GRCm39)	S317G	probably benign	Het
Gipc1	T	A	8: 84,388,919 (GRCm39)	M177K	possibly damaging	Het
Grpel2	A	C	18: 61,851,823 (GRCm39)		probably benign	Het
Htr1a	G	C	13: 105,581,101 (GRCm39)	A114P	probably damaging	Het
Iqch	A	T	9: 63,452,195 (GRCm39)	M210K	possibly damaging	Het
Kdelr3	T	C	15: 79,410,052 (GRCm39)	I179T	possibly damaging	Het
Lat2	C	T	5: 134,635,553 (GRCm39)		probably benign	Het
Mcrip1	A	G	11: 120,435,605 (GRCm39)	V10A	probably damaging	Het
Mib1	C	T	18: 10,755,643 (GRCm39)	L350F	probably benign	Het
Nhlrc2	T	A	19: 56,583,344 (GRCm39)	V605E	probably benign	Het
Nup133	AAGAGA	AAGA	8: 124,638,627 (GRCm39)	900	probably null	Het
Nutm2	A	T	13: 50,623,989 (GRCm39)	I229F	probably benign	Het
Or6f1	G	A	7: 85,970,989 (GRCm39)	T57M	probably damaging	Het
Phkb	T	C	8: 86,745,156 (GRCm39)	V611A	possibly damaging	Het
Polg2	A	T	11: 106,670,208 (GRCm39)	Y21N	probably benign	Het
Prss28	T	A	17: 25,528,627 (GRCm39)	I23N	probably benign	Het
Ptprz1	G	A	6: 23,030,661 (GRCm39)	V1856I	probably benign	Het
Slc22a22	A	T	15: 57,108,237 (GRCm39)	I526N	probably damaging	Het
Slc24a4	T	C	12: 102,180,133 (GRCm39)	F68S	probably damaging	Het
Slc37a3	A	G	6: 39,322,274 (GRCm39)	S377P	probably damaging	Het
Smoc2	T	C	17: 14,545,896 (GRCm39)	S62P	probably damaging	Het
Sox4	A	G	13: 29,136,911 (GRCm39)	S32P	probably damaging	Het
Stxbp2	A	T	8: 3,689,541 (GRCm39)	Q426L		Het
Synrg	T	G	11: 83,910,410 (GRCm39)	S937A	probably benign	Het
Tbr1	C	A	2: 61,642,196 (GRCm39)	T487K	possibly damaging	Het
Tll2	T	C	19: 41,195,012 (GRCm39)	T25A	probably benign	Het
Trim31	T	C	17: 37,210,875 (GRCm39)	F169S	probably benign	Het
Tro	G	A	X: 149,438,555 (GRCm39)	S34L	unknown	Het
Tspear	T	C	10: 77,665,463 (GRCm39)	F83S	probably benign	Het
Ubr5	C	A	15: 38,041,123 (GRCm39)	A254S		Het
Ubtfl1	A	G	9: 18,321,459 (GRCm39)	E329G	probably benign	Het
Vmn2r45	A	G	7: 8,474,881 (GRCm39)	W716R	probably damaging	Het
Vmn2r67	T	C	7: 84,799,895 (GRCm39)	M448V	probably damaging	Het
Wwc2	T	G	8: 48,336,579 (GRCm39)	I228L	possibly damaging	Het
Zbtb20	T	C	16: 43,430,857 (GRCm39)	V383A	probably benign	Het

Other mutations in Aldoc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
1mM(1):Aldoc	UTSW	11	78,217,094 (GRCm39)	missense	probably damaging	1.00
R4623:Aldoc	UTSW	11	78,215,947 (GRCm39)	missense	probably damaging	1.00
R6382:Aldoc	UTSW	11	78,216,568 (GRCm39)	missense	probably benign
R6731:Aldoc	UTSW	11	78,216,918 (GRCm39)	missense	probably benign
R7131:Aldoc	UTSW	11	78,215,282 (GRCm39)	missense	possibly damaging	0.66
R8068:Aldoc	UTSW	11	78,215,553 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TTGCTTCTAGGCAGCATGGC -3'
(R):5'- TGCCAGCATCAACATGTCCC -3'

Sequencing Primer
(F):5'- CAGCATGGCCAAAAGGCTG -3'
(R):5'- CCAACAGGTACCTTGAGTGGTG -3'

Posted On

2021-04-30