Mutagenetix > Incidental Mutation

Incidental Mutation 'R7944:Gale'

649215

Institutional Source

Beutler Lab

Gene Symbol

Gale

Ensembl Gene

ENSMUSG00000028671

Gene Name

galactose-4-epimerase, UDP

Synonyms

2310002A12Rik

MMRRC Submission

045990-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R7944 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135691038-135695489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135692982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 75 (L75P)

Ref Sequence

ENSEMBL: ENSMUSP00000099599 (fasta)

Gene Model

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

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: L75P

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

SMART Domains

Protein: ENSMUSP00000099599
Gene: ENSMUSG00000028671
AA Change: L75P

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: L75P

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

SMART Domains

Protein: ENSMUSP00000099600
Gene: ENSMUSG00000028671
AA Change: L75P

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

probably benign
Transcript: ENSMUST00000143304

SMART Domains

Protein: ENSMUSP00000119514
Gene: ENSMUSG00000028671

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	A	8: 13,271,929 (GRCm39)	R1610W	probably damaging	Het
Aig1	A	T	10: 13,744,417 (GRCm39)	M29K	probably damaging	Het
Alms1	A	T	6: 85,618,362 (GRCm39)	I2334F	probably benign	Het
Ano6	A	G	15: 95,839,190 (GRCm39)	Y423C	probably damaging	Het
Arap3	T	C	18: 38,122,232 (GRCm39)	M619V	probably benign	Het
Armh4	T	A	14: 50,010,670 (GRCm39)	T346S	probably benign	Het
Asb13	T	A	13: 3,699,413 (GRCm39)	F204L	probably damaging	Het
Btaf1	T	C	19: 36,926,565 (GRCm39)	V79A	probably benign	Het
Casp8ap2	A	G	4: 32,645,909 (GRCm39)	T1661A	probably benign	Het
Ccna1	G	T	3: 54,958,010 (GRCm39)	T165K	possibly damaging	Het
Cdc42ep1	T	A	15: 78,731,973 (GRCm39)	S139R	possibly damaging	Het
Chil3	A	C	3: 106,057,464 (GRCm39)	Y233*	probably null	Het
Clec1a	T	C	6: 129,409,150 (GRCm39)	S159G	probably benign	Het
Cltc	A	T	11: 86,627,967 (GRCm39)	N60K	probably benign	Het
Dlgap4	T	A	2: 156,591,054 (GRCm39)	Y747N	probably damaging	Het
Dnah7b	A	G	1: 46,266,163 (GRCm39)	N2244S	probably benign	Het
Ephb3	A	G	16: 21,040,434 (GRCm39)	T811A	probably damaging	Het
Fbxo21	T	C	5: 118,146,212 (GRCm39)	Y612H	possibly damaging	Het
Golgb1	T	C	16: 36,734,466 (GRCm39)	S1279P	probably benign	Het
Hdgfl3	T	C	7: 81,583,706 (GRCm39)	Y22C	possibly damaging	Het
Hmx3	T	G	7: 131,146,111 (GRCm39)	I273S	probably damaging	Het
Hpse2	T	C	19: 43,373,248 (GRCm39)	N127S	probably benign	Het
Hsf2bp	C	T	17: 32,226,743 (GRCm39)	R204H	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,224 (GRCm39)	H411L	probably benign	Het
Krtap27-1	T	C	16: 88,468,340 (GRCm39)	N68S	probably benign	Het
Ltbp1	T	G	17: 75,697,546 (GRCm39)	*1713G	probably null	Het
Lypd6b	A	G	2: 49,833,612 (GRCm39)	E84G	probably damaging	Het
Meiosin	T	A	7: 18,834,011 (GRCm39)	K508N	unknown	Het
Mrgprx2	T	C	7: 48,132,753 (GRCm39)	T22A	probably benign	Het
Mrto4	T	C	4: 139,077,000 (GRCm39)	Y39C	probably benign	Het
Mtmr4	T	C	11: 87,495,254 (GRCm39)	V437A	probably damaging	Het
Mylk4	T	C	13: 32,911,096 (GRCm39)	T221A	probably benign	Het
Neb	T	C	2: 52,161,360 (GRCm39)	D2144G	probably damaging	Het
Nup210	T	G	6: 91,050,179 (GRCm39)	D430A	probably damaging	Het
Obscn	T	A	11: 58,984,235 (GRCm39)	E1740V	probably damaging	Het
Or8i2	A	G	2: 86,852,657 (GRCm39)	V77A	probably benign	Het
Panx1	A	G	9: 14,919,125 (GRCm39)	C245R	probably damaging	Het
Pcdha6	C	A	18: 37,101,965 (GRCm39)	T386N	possibly damaging	Het
Pcsk1	G	A	13: 75,280,211 (GRCm39)	A679T	probably benign	Het
Pdzph1	T	C	17: 59,239,455 (GRCm39)	T958A	probably damaging	Het
Pkd2l2	T	A	18: 34,560,481 (GRCm39)	Y363N	possibly damaging	Het
Plekha5	T	A	6: 140,526,201 (GRCm39)	H946Q	possibly damaging	Het
Rhbg	A	G	3: 88,155,007 (GRCm39)	L168P	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rtn2	T	A	7: 19,020,987 (GRCm39)	S153R	probably benign	Het
Serpinb1a	C	A	13: 33,034,239 (GRCm39)	A51S	probably benign	Het
Serpinb6e	T	A	13: 34,016,588 (GRCm39)	T382S	probably damaging	Het
Sgip1	T	G	4: 102,772,298 (GRCm39)	M229R	probably benign	Het
Slc1a5	C	A	7: 16,523,807 (GRCm39)	R271S	possibly damaging	Het
Slc23a3	A	G	1: 75,106,040 (GRCm39)		probably null	Het
Slc7a6	C	T	8: 106,906,239 (GRCm39)	P157L	possibly damaging	Het
Spsb1	T	C	4: 149,990,903 (GRCm39)	I222V	probably benign	Het
Syne2	A	T	12: 75,951,079 (GRCm39)	E410V	probably damaging	Het
Trappc3	T	C	4: 126,168,999 (GRCm39)	I163T	probably damaging	Het
Treh	T	C	9: 44,592,584 (GRCm39)	V63A	probably damaging	Het
Ttc6	T	G	12: 57,707,229 (GRCm39)	L712R	possibly damaging	Het
Ttn	G	T	2: 76,715,309 (GRCm39)	Q7928K	unknown	Het
Tuft1	G	A	3: 94,539,909 (GRCm39)	P159S	probably benign	Het
Vmn2r108	T	C	17: 20,691,890 (GRCm39)	H211R	probably damaging	Het
Wapl	T	C	14: 34,399,105 (GRCm39)	I58T	probably benign	Het
Zfp78	C	T	7: 6,381,589 (GRCm39)	T213I	possibly damaging	Het
Zmat4	T	A	8: 24,238,436 (GRCm39)	I6N	possibly damaging	Het
Zp3r	G	T	1: 130,524,560 (GRCm39)	P226Q	probably damaging	Het

Other mutations in Gale

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Gale	APN	4	135,693,389 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AATCAGTGAACAGTTTCTAGAGGG -3'
(R):5'- ATGCTGTGCCTGCATCCTTG -3'

Sequencing Primer
(F):5'- AACAGTTTCTAGAGGGGTTGGGTAC -3'
(R):5'- TGCTCTAAATGCCCCAGCTAG -3'

Posted On

2020-09-15