Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01080:Gale'

50865

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gale

Ensembl Gene

ENSMUSG00000028671

Gene Name

galactose-4-epimerase, UDP

Synonyms

2310002A12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

IGL01080

Quality Score

Status

Chromosome

Chromosomal Location

135691038-135695489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135693389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 104 (Y104H)

Ref Sequence

ENSEMBL: ENSMUSP00000099600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030432] [ENSMUST00000067567] [ENSMUST00000102540] [ENSMUST00000102541] [ENSMUST00000105852] [ENSMUST00000149636] [ENSMUST00000143304]

AlphaFold

Q8R059

Predicted Effect

probably benign
Transcript: ENSMUST00000030432

SMART Domains

Protein: ENSMUSP00000030432
Gene: ENSMUSG00000028672

Domain	Start	End	E-Value	Type
Pfam:HMGL-like	32	306	2.4e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067567

SMART Domains

Protein: ENSMUSP00000064204
Gene: ENSMUSG00000028670

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	11	228	4.8e-89	PFAM
Pfam:Abhydrolase_5	26	211	2.6e-12	PFAM
Pfam:Abhydrolase_6	27	167	6.5e-13	PFAM
Pfam:Abhydrolase_3	80	170	3.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102540
AA Change: Y104H

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

SMART Domains

Protein: ENSMUSP00000099599
Gene: ENSMUSG00000028671
AA Change: Y104H

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	1	194	1.9e-14	PFAM
Pfam:adh_short	2	142	4.4e-14	PFAM
Pfam:KR	3	146	3.6e-10	PFAM
Pfam:Polysacc_synt_2	4	193	8.8e-14	PFAM
Pfam:NAD_binding_10	4	213	1.1e-11	PFAM
Pfam:Epimerase	4	269	3.7e-55	PFAM
Pfam:3Beta_HSD	5	171	3.6e-18	PFAM
Pfam:NAD_binding_4	6	230	1.6e-11	PFAM
Pfam:Epimerase_Csub	282	343	3.1e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102541
AA Change: Y104H

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

SMART Domains

Protein: ENSMUSP00000099600
Gene: ENSMUSG00000028671
AA Change: Y104H

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	1	184	3.5e-14	PFAM
Pfam:KR	3	144	9.5e-10	PFAM
Pfam:Polysacc_synt_2	4	193	7.6e-14	PFAM
Pfam:Epimerase	4	269	3.5e-54	PFAM
Pfam:3Beta_HSD	5	172	2e-18	PFAM
Pfam:GDP_Man_Dehyd	5	332	2.5e-60	PFAM
Pfam:NAD_binding_4	62	233	2.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105852

SMART Domains

Protein: ENSMUSP00000101478
Gene: ENSMUSG00000028670

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	11	228	2.3e-92	PFAM
Pfam:Abhydrolase_5	26	211	3.1e-12	PFAM
Pfam:Abhydrolase_6	27	225	1.2e-7	PFAM
Pfam:DLH	85	223	4.8e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150978

Predicted Effect

probably benign
Transcript: ENSMUST00000149636

SMART Domains

Protein: ENSMUSP00000117923
Gene: ENSMUSG00000028671

Domain	Start	End	E-Value	Type
Pfam:Epimerase	4	58	1.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143304

SMART Domains

Protein: ENSMUSP00000119514
Gene: ENSMUSG00000028671

Domain	Start	End	E-Value	Type
Pfam:Epimerase	4	55	1.2e-8	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,984,258 (GRCm39)	R663W	probably damaging	Het
Cacng5	A	T	11: 107,768,754 (GRCm39)	F179L	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Cd96	T	C	16: 45,870,056 (GRCm39)	E471G	possibly damaging	Het
Cpt1c	T	C	7: 44,610,333 (GRCm39)	D621G	probably damaging	Het
Csmd3	T	C	15: 47,744,799 (GRCm39)	I1503V	probably benign	Het
Dmgdh	T	C	13: 93,840,286 (GRCm39)		probably benign	Het
Flg	A	T	3: 93,186,906 (GRCm39)	K119N	probably benign	Het
Gm8005	T	C	14: 42,258,971 (GRCm39)	D119G	unknown	Het
Gstk1	A	T	6: 42,223,560 (GRCm39)	D50V	possibly damaging	Het
Kmt2a	T	C	9: 44,720,389 (GRCm39)	D3866G	unknown	Het
Mastl	A	G	2: 23,036,160 (GRCm39)	S119P	probably damaging	Het
Or2aj4	A	T	16: 19,384,958 (GRCm39)	V225E	probably damaging	Het
Phf11c	G	A	14: 59,630,648 (GRCm39)	T19I	probably benign	Het
Ppp1r16b	A	G	2: 158,599,092 (GRCm39)	T355A	probably damaging	Het
Prmt7	T	G	8: 106,963,846 (GRCm39)		probably benign	Het
Rad50	T	C	11: 53,596,895 (GRCm39)	T44A	probably damaging	Het
Rangap1	C	T	15: 81,589,953 (GRCm39)		probably benign	Het
Slc27a3	A	T	3: 90,292,767 (GRCm39)	V634E	probably benign	Het
Tbxas1	T	A	6: 38,998,115 (GRCm39)	L228I	probably damaging	Het
Tnfaip3	T	C	10: 18,887,403 (GRCm39)	K41E	probably benign	Het
Tti1	C	T	2: 157,824,379 (GRCm39)	V1025I	probably damaging	Het
Tyrobp	T	C	7: 30,116,841 (GRCm39)		probably null	Het
Wfdc16	A	T	2: 164,480,406 (GRCm39)	W30R	probably damaging	Het
Zyg11b	A	T	4: 108,094,613 (GRCm39)	L657Q	probably damaging	Het

Other mutations in Gale

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02223:Gale	APN	4	135,693,817 (GRCm39)	missense	probably damaging	1.00
IGL02893:Gale	APN	4	135,694,913 (GRCm39)	missense	probably benign	0.02
R4598:Gale	UTSW	4	135,695,148 (GRCm39)	nonsense	probably null
R4599:Gale	UTSW	4	135,695,148 (GRCm39)	nonsense	probably null
R4993:Gale	UTSW	4	135,694,171 (GRCm39)	missense	probably damaging	1.00
R6226:Gale	UTSW	4	135,692,916 (GRCm39)	missense	possibly damaging	0.57
R7151:Gale	UTSW	4	135,694,503 (GRCm39)	missense	probably damaging	0.98
R7944:Gale	UTSW	4	135,692,982 (GRCm39)	missense	probably damaging	1.00
R8523:Gale	UTSW	4	135,694,987 (GRCm39)	missense	probably benign
R9478:Gale	UTSW	4	135,692,574 (GRCm39)	start gained	probably benign
R9764:Gale	UTSW	4	135,692,975 (GRCm39)	nonsense	probably null

Posted On

2013-06-21