Mutagenetix > Incidental Mutation

Incidental Mutation 'R6801:Galm'

533357

Institutional Source

Beutler Lab

Gene Symbol

Galm

Ensembl Gene

ENSMUSG00000035473

Gene Name

galactose mutarotase

Synonyms

aldose 1-epimerase, A530057M15Rik

MMRRC Submission

044914-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R6801 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80434886-80492461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80489053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 233 (H233R)

Ref Sequence

ENSEMBL: ENSMUSP00000040580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039205]

AlphaFold

Q8K157

Predicted Effect

probably benign
Transcript: ENSMUST00000039205
AA Change: H233R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000040580
Gene: ENSMUSG00000035473
AA Change: H233R

Domain	Start	End	E-Value	Type
Pfam:Aldose_epim	20	338	7.1e-102	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120018
Gene: ENSMUSG00000035473
AA Change: H60R

Domain	Start	End	E-Value	Type
Pfam:Aldose_epim	1	159	6.1e-41	PFAM

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,174,680 (GRCm39)	Y695F	possibly damaging	Het
Arhgap20	A	G	9: 51,759,892 (GRCm39)	D545G	probably damaging	Het
Arhgef11	A	G	3: 87,643,159 (GRCm39)	E1457G	possibly damaging	Het
Atp2b4	T	A	1: 133,655,524 (GRCm39)	I747F	probably damaging	Het
Bche	T	A	3: 73,609,133 (GRCm39)	I98L	probably benign	Het
C2cd6	TC	T	1: 59,133,742 (GRCm39)		probably null	Het
Ccdc90b	A	G	7: 92,216,943 (GRCm39)	T72A	probably benign	Het
Chrd	A	G	16: 20,554,497 (GRCm39)	E352G	possibly damaging	Het
Csmd2	A	G	4: 128,277,743 (GRCm39)	E953G	probably benign	Het
Dchs2	T	A	3: 83,035,841 (GRCm39)	M196K	probably benign	Het
Ddx10	G	A	9: 53,159,207 (GRCm39)	Q33*	probably null	Het
Dennd4b	T	A	3: 90,176,086 (GRCm39)	V201E	probably damaging	Het
Fbn2	T	A	18: 58,246,420 (GRCm39)	H494L	probably benign	Het
Fbxw13	G	A	9: 109,023,795 (GRCm39)	A83V	probably null	Het
Fxr1	A	G	3: 34,108,452 (GRCm39)	D321G	possibly damaging	Het
Gm7298	A	G	6: 121,752,768 (GRCm39)	T837A	probably benign	Het
Gmppa	C	G	1: 75,418,391 (GRCm39)	S258C	possibly damaging	Het
Hk1	T	G	10: 62,116,910 (GRCm39)	E645A	probably damaging	Het
Igkv1-132	A	G	6: 67,737,324 (GRCm39)	T97A	probably damaging	Het
Kcnc1	T	C	7: 46,084,716 (GRCm39)	F547L	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lingo2	T	A	4: 35,709,566 (GRCm39)	E138V	probably damaging	Het
Myb	T	C	10: 21,020,865 (GRCm39)		probably null	Het
Mybl1	A	G	1: 9,753,353 (GRCm39)	V243A	probably benign	Het
Mylk4	C	T	13: 32,912,393 (GRCm39)	S189N	probably benign	Het
Or13c7	T	A	4: 43,855,206 (GRCm39)	L299*	probably null	Het
Or2y16	A	G	11: 49,335,169 (GRCm39)	M164V	probably benign	Het
Or4k77	A	T	2: 111,199,394 (GRCm39)	Q139L	probably benign	Het
Or4x12-ps1	A	T	2: 89,915,953 (GRCm39)	I284N	probably damaging	Het
Or5w1b	A	G	2: 87,475,667 (GRCm39)	Y267H	probably benign	Het
Or8g19	A	T	9: 39,055,506 (GRCm39)	I37F	probably benign	Het
Oxld1	A	T	11: 120,347,650 (GRCm39)	D182E	probably damaging	Het
Phf13	A	T	4: 152,076,017 (GRCm39)	L295Q	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Prss33	A	G	17: 24,053,813 (GRCm39)	L88P	possibly damaging	Het
Ralgds	A	G	2: 28,438,448 (GRCm39)	Y596C	probably damaging	Het
Rftn2	A	G	1: 55,233,418 (GRCm39)	I379T	possibly damaging	Het
Rnf214	C	T	9: 45,807,403 (GRCm39)	E267K	probably damaging	Het
Rpp14	T	C	14: 8,083,717 (GRCm38)		probably benign	Het
Rpusd2	A	G	2: 118,865,876 (GRCm39)	Y191C	probably damaging	Het
Serpinb9c	T	A	13: 33,341,807 (GRCm39)	M1L	probably benign	Het
Shroom3	A	G	5: 93,088,795 (GRCm39)	D434G	probably damaging	Het
Smc5	G	A	19: 23,192,010 (GRCm39)	S888L	probably benign	Het
Suv39h2	C	T	2: 3,465,458 (GRCm39)	R299K	probably benign	Het
Trappc4	A	T	9: 44,315,685 (GRCm39)	I176N	probably damaging	Het
Trim12c	A	T	7: 103,997,337 (GRCm39)	V73E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het

Other mutations in Galm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Galm	APN	17	80,490,709 (GRCm39)	missense	probably benign	0.03
IGL02057:Galm	APN	17	80,488,996 (GRCm39)	missense	probably benign	0.05
IGL02212:Galm	APN	17	80,457,546 (GRCm39)	missense	probably benign	0.09
IGL02239:Galm	APN	17	80,452,467 (GRCm39)	missense	probably damaging	1.00
R1442:Galm	UTSW	17	80,452,614 (GRCm39)	missense	probably damaging	0.99
R1511:Galm	UTSW	17	80,490,696 (GRCm39)	missense	probably damaging	1.00
R2129:Galm	UTSW	17	80,490,647 (GRCm39)	missense	probably benign
R2298:Galm	UTSW	17	80,489,126 (GRCm39)	nonsense	probably null
R3724:Galm	UTSW	17	80,490,709 (GRCm39)	missense	probably benign	0.03
R5307:Galm	UTSW	17	80,452,417 (GRCm39)	missense	probably damaging	1.00
R5307:Galm	UTSW	17	80,452,416 (GRCm39)	nonsense	probably null
R5602:Galm	UTSW	17	80,457,568 (GRCm39)	nonsense	probably null
R5778:Galm	UTSW	17	80,435,146 (GRCm39)	start codon destroyed	probably null	1.00
R5873:Galm	UTSW	17	80,445,532 (GRCm39)	missense	probably benign	0.19
R7454:Galm	UTSW	17	80,445,550 (GRCm39)	missense	possibly damaging	0.76
R8304:Galm	UTSW	17	80,490,766 (GRCm39)	missense	probably damaging	0.98
R8812:Galm	UTSW	17	80,435,215 (GRCm39)	missense	probably damaging	1.00
R8856:Galm	UTSW	17	80,490,661 (GRCm39)	missense	possibly damaging	0.95
R9474:Galm	UTSW	17	80,457,561 (GRCm39)	missense	possibly damaging	0.76
R9562:Galm	UTSW	17	80,490,859 (GRCm39)	nonsense	probably null
Z1176:Galm	UTSW	17	80,490,662 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- ACCAATTCTGTATTCTGATCAGGG -3'
(R):5'- GCTATTGAAACCGCCACAGG -3'

Sequencing Primer
(F):5'- ATCCTTGGGATCCAGGCTC -3'
(R):5'- GGGAATGCTCCTCAAAATAAGACCTG -3'

Posted On

2018-09-12