Mutagenetix > Incidental Mutation

Incidental Mutation 'R5602:Galm'

439107

Institutional Source

Beutler Lab

Gene Symbol

Galm

Ensembl Gene

ENSMUSG00000035473

Gene Name

galactose mutarotase

Synonyms

aldose 1-epimerase, A530057M15Rik

MMRRC Submission

043154-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R5602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80434886-80492461 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 80457568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 28 (Y28*)

Gene Model

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

AlphaFold

Q8K157

Predicted Effect

probably null
Transcript: ENSMUST00000039205
AA Change: Y201*

SMART Domains

Protein: ENSMUSP00000040580
Gene: ENSMUSG00000035473
AA Change: Y201*

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

Predicted Effect

probably null
Transcript: ENSMUST00000133955
AA Change: Y28*

SMART Domains

Protein: ENSMUSP00000120018
Gene: ENSMUSG00000035473
AA Change: Y28*

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	G	A	2: 151,315,459 (GRCm39)	S73F	possibly damaging	Het
4932414N04Rik	A	T	2: 68,578,712 (GRCm39)	*753L	probably null	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam19	T	C	11: 46,027,142 (GRCm39)	S592P	probably benign	Het
Adamtsl3	A	G	7: 82,206,447 (GRCm39)	K843R	possibly damaging	Het
Ap2a2	A	T	7: 141,184,855 (GRCm39)	T213S	probably benign	Het
Asb5	A	G	8: 55,038,974 (GRCm39)	E280G	probably benign	Het
Becn1	T	C	11: 101,179,778 (GRCm39)	D403G	probably damaging	Het
Ccr7	G	T	11: 99,036,315 (GRCm39)	N202K	probably benign	Het
Cd36	T	C	5: 18,019,790 (GRCm39)	T104A	possibly damaging	Het
Cnot4	C	T	6: 35,028,464 (GRCm39)	W384*	probably null	Het
Col15a1	G	A	4: 47,312,087 (GRCm39)	V1301M	probably damaging	Het
Dock2	C	A	11: 34,204,391 (GRCm39)	A1384S	probably benign	Het
Ehbp1l1	T	C	19: 5,758,698 (GRCm39)	E1648G	possibly damaging	Het
Fbn1	G	T	2: 125,163,661 (GRCm39)	A2065E	possibly damaging	Het
Fras1	A	G	5: 96,884,880 (GRCm39)	Y2586C	probably damaging	Het
Ggt7	A	G	2: 155,332,919 (GRCm39)	V648A	possibly damaging	Het
Gm17067	T	A	7: 42,357,839 (GRCm39)	D221V	probably damaging	Het
Gpr3	T	C	4: 132,937,805 (GRCm39)	N289S	probably damaging	Het
Ighv11-2	A	G	12: 114,012,277 (GRCm39)		probably benign	Het
Ighv11-2	G	A	12: 114,012,099 (GRCm39)	L39F	probably damaging	Het
Ipo9	G	A	1: 135,329,983 (GRCm39)	L486F	probably damaging	Het
Jak2	T	A	19: 29,275,739 (GRCm39)	N726K	probably benign	Het
Map4	T	C	9: 109,881,768 (GRCm39)	S211P	possibly damaging	Het
Mlh1	A	T	9: 111,081,946 (GRCm39)	L259Q	probably damaging	Het
Naa25	A	G	5: 121,558,558 (GRCm39)	E300G	probably benign	Het
Or8g34	A	T	9: 39,373,326 (GRCm39)	M200L	probably benign	Het
Or8g54	T	A	9: 39,707,490 (GRCm39)	V273E	possibly damaging	Het
Parva	G	A	7: 112,166,972 (GRCm39)	V182I	probably benign	Het
Pcdhgb4	T	C	18: 37,854,697 (GRCm39)	I364T	probably damaging	Het
Pdik1l	A	G	4: 134,011,580 (GRCm39)	S164P	probably damaging	Het
Pfas	A	T	11: 68,881,871 (GRCm39)	I938N	probably benign	Het
Plscr1l1	G	A	9: 92,234,721 (GRCm39)	C152Y	possibly damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Prob1	C	T	18: 35,787,079 (GRCm39)	V392M	possibly damaging	Het
Rasgrf1	T	C	9: 89,793,624 (GRCm39)	S134P	possibly damaging	Het
Rorb	T	A	19: 18,955,301 (GRCm39)	Y20F	probably damaging	Het
Rsph9	G	T	17: 46,445,909 (GRCm39)	D220E	probably damaging	Het
Safb2	C	A	17: 56,882,630 (GRCm39)	K334N	possibly damaging	Het
Sall3	T	C	18: 81,016,027 (GRCm39)	T634A	probably benign	Het
Scaf1	A	G	7: 44,657,007 (GRCm39)		probably benign	Het
Slco1a5	T	A	6: 142,221,255 (GRCm39)		probably benign	Het
Spata21	C	T	4: 140,824,210 (GRCm39)	R158C	probably benign	Het
Srrm2	G	A	17: 24,038,311 (GRCm39)		probably benign	Het
Stk38l	C	A	6: 146,659,998 (GRCm39)	T10N	probably benign	Het
Supv3l1	G	A	10: 62,266,371 (GRCm39)	P602S	possibly damaging	Het
Timm44	C	T	8: 4,316,769 (GRCm39)		probably null	Het
Tll2	T	A	19: 41,093,420 (GRCm39)	R465S	possibly damaging	Het
Tmem104	G	A	11: 115,095,950 (GRCm39)	A164T	probably damaging	Het
Tmem151b	A	G	17: 45,856,526 (GRCm39)	S305P	probably damaging	Het
Utrn	T	C	10: 12,625,839 (GRCm39)	D114G	probably damaging	Het
Vmn2r109	A	T	17: 20,760,933 (GRCm39)	M808K	possibly damaging	Het
Washc2	T	A	6: 116,225,056 (GRCm39)	D801E	possibly damaging	Het
Xkr4	T	C	1: 3,286,751 (GRCm39)	I480V	probably benign	Het
Zfp507	G	T	7: 35,475,663 (GRCm39)	S58*	probably null	Het
Zfp768	T	A	7: 126,943,804 (GRCm39)	D108V	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
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
R6801:Galm	UTSW	17	80,489,053 (GRCm39)	missense	probably benign	0.01
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'- AATAAAACCCAGTAGCCGGG -3'
(R):5'- ATCCAGTAAAGTGAAGCCATTTCTC -3'

Sequencing Primer
(F):5'- GAACTCACTCTGTAGACCAGGTTG -3'
(R):5'- TATCGAGAAGACTGACATTAGCATGC -3'

Posted On

2016-10-26