Mutagenetix > Incidental Mutation

Incidental Mutation 'R4993:Gale'

384991

Institutional Source

Beutler Lab

Gene Symbol

Gale

Ensembl Gene

ENSMUSG00000028671

Gene Name

galactose-4-epimerase, UDP

Synonyms

2310002A12Rik

MMRRC Submission

042587-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135691038-135695489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 135694171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 191 (H191Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099600 (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: H191Q

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

SMART Domains

Protein: ENSMUSP00000099599
Gene: ENSMUSG00000028671
AA Change: H191Q

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: H191Q

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

SMART Domains

Protein: ENSMUSP00000099600
Gene: ENSMUSG00000028671
AA Change: H191Q

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: ENSMUST00000153542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145350

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 41,191,052 (GRCm39)	Q126K	probably benign	Het
Abca15	C	A	7: 120,000,941 (GRCm39)	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,906,472 (GRCm39)	D402N	probably damaging	Het
Akap11	A	G	14: 78,750,408 (GRCm39)	F660L	probably damaging	Het
Bcl3	T	C	7: 19,554,102 (GRCm39)	T89A	probably benign	Het
Bub1b	T	C	2: 118,467,251 (GRCm39)	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,352,214 (GRCm39)	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,502,530 (GRCm39)	D202V	probably damaging	Het
Dip2c	T	G	13: 9,625,259 (GRCm39)	Y584*	probably null	Het
Dpf3	A	T	12: 83,378,635 (GRCm39)		probably null	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Emid1	G	T	11: 5,081,512 (GRCm39)	Q212K	probably benign	Het
Esm1	C	T	13: 113,349,933 (GRCm39)	Q118*	probably null	Het
Fahd2a	T	G	2: 127,278,284 (GRCm39)	I308L	probably benign	Het
Fanci	T	C	7: 79,085,126 (GRCm39)	*851Q	probably null	Het
Fastkd1	C	A	2: 69,533,084 (GRCm39)	V428F	probably damaging	Het
Fat2	A	T	11: 55,173,918 (GRCm39)	I2265N	probably damaging	Het
Ghsr	T	A	3: 27,426,403 (GRCm39)	V153E	possibly damaging	Het
Gpc6	A	G	14: 117,861,951 (GRCm39)	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,191,537 (GRCm39)	Y153F	probably damaging	Het
Ints3	T	C	3: 90,322,814 (GRCm39)	T139A	probably benign	Het
Irf2bp2	A	G	8: 127,319,410 (GRCm39)	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640 (GRCm39)	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,219,820 (GRCm39)	H117P	probably damaging	Het
Lpl	A	G	8: 69,348,445 (GRCm39)	K225E	probably benign	Het
Lrba	T	A	3: 86,267,344 (GRCm39)	V1678D	probably damaging	Het
Med1	A	T	11: 98,054,730 (GRCm39)	F398Y	probably damaging	Het
Mfap2	T	C	4: 140,742,889 (GRCm39)	*186Q	probably null	Het
Mfsd3	T	C	15: 76,586,182 (GRCm39)	L105P	probably damaging	Het
Mlxip	T	G	5: 123,533,357 (GRCm39)	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,118,355 (GRCm39)	Y107F	probably damaging	Het
Mtg1	G	T	7: 139,720,196 (GRCm39)	D88Y	probably null	Het
Mutyh	T	A	4: 116,675,132 (GRCm39)	S426R	probably benign	Het
Myo16	C	T	8: 10,526,094 (GRCm39)	T878I	probably damaging	Het
Myo9a	T	A	9: 59,768,755 (GRCm39)	Y912*	probably null	Het
Ncor1	A	C	11: 62,234,167 (GRCm39)	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,202,935 (GRCm39)	I210V	probably benign	Het
Nek9	A	G	12: 85,357,194 (GRCm39)	C657R	probably damaging	Het
Noct	C	T	3: 51,157,442 (GRCm39)	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,334,042 (GRCm39)	M102K	probably benign	Het
Obscn	G	A	11: 59,015,587 (GRCm39)	R1054C	possibly damaging	Het
Or10ag58	T	A	2: 87,265,496 (GRCm39)	F222I	probably benign	Het
Or1j20	C	A	2: 36,760,000 (GRCm39)	Q141K	probably benign	Het
Or2a57	A	G	6: 43,213,390 (GRCm39)	M283V	possibly damaging	Het
Or51ah3	T	A	7: 103,210,524 (GRCm39)	I280N	possibly damaging	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or5p75-ps1	G	A	7: 108,107,450 (GRCm39)	M62I	probably damaging	Het
Otol1	C	A	3: 69,926,211 (GRCm39)	Q129K	probably benign	Het
Otx1	A	T	11: 21,948,532 (GRCm39)		probably null	Het
Pcdhac2	C	A	18: 37,279,304 (GRCm39)	N761K	probably damaging	Het
Pde1c	A	T	6: 56,127,609 (GRCm39)	M452K	probably damaging	Het
Phkg2	T	C	7: 127,173,113 (GRCm39)	Y24H	probably damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prg4	C	T	1: 150,336,432 (GRCm39)	C97Y	probably damaging	Het
Ptdss1	T	C	13: 67,093,352 (GRCm39)	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,289,231 (GRCm39)	K324E	probably damaging	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Riiad1	T	C	3: 94,380,170 (GRCm39)	T42A	probably benign	Het
Rims2	T	C	15: 39,317,841 (GRCm39)	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,190,770 (GRCm39)	S592Y	possibly damaging	Het
Scap	T	C	9: 110,207,458 (GRCm39)	L431P	probably damaging	Het
Siglec1	T	A	2: 130,915,281 (GRCm39)	I1437F	possibly damaging	Het
Skic3	T	A	13: 76,331,055 (GRCm39)	M1495K	probably damaging	Het
Skint1	T	C	4: 111,885,530 (GRCm39)		probably null	Het
Slc44a1	A	G	4: 53,543,644 (GRCm39)	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,639,867 (GRCm39)	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,004,129 (GRCm39)	S394R	probably damaging	Het
Socs1	A	G	16: 10,602,549 (GRCm39)	S63P	probably benign	Het
Spopfm2	C	T	3: 94,083,623 (GRCm39)	G63R	probably damaging	Het
Sun1	T	G	5: 139,211,088 (GRCm39)	S20A	possibly damaging	Het
Tac4	A	T	11: 95,156,068 (GRCm39)	K50*	probably null	Het
Tasor	T	A	14: 27,151,071 (GRCm39)	W16R	possibly damaging	Het
Tcaf2	A	G	6: 42,619,574 (GRCm39)	I151T	probably damaging	Het
Tcf4	T	C	18: 69,814,840 (GRCm39)	V587A	probably damaging	Het
Ttn	T	A	2: 76,571,253 (GRCm39)	K24801*	probably null	Het
Tuba3b	G	T	6: 145,566,999 (GRCm39)	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832 (GRCm39)	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,287,532 (GRCm39)	I212L	probably benign	Het
Umodl1	A	G	17: 31,205,459 (GRCm39)	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,773,878 (GRCm39)	V183D	probably damaging	Het
Ush2a	A	G	1: 188,642,917 (GRCm39)	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,204,653 (GRCm39)	S121N	probably damaging	Het
Vmn1r47	A	G	6: 89,999,740 (GRCm39)	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,701,449 (GRCm39)	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,487,176 (GRCm39)	H573L	probably benign	Het
Xirp1	C	T	9: 119,847,858 (GRCm39)	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204 (GRCm39)	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,415,963 (GRCm39)	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,464,465 (GRCm39)	K599N	probably damaging	Het
Zfp819	C	A	7: 43,266,720 (GRCm39)	T401K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGTGTTCTCTGCCCAAGGTC -3'
(R):5'- GTCATCACCAAAGACATTCAGGG -3'

Sequencing Primer
(F):5'- CAAGGTCTTGGCAGCTGG -3'
(R):5'- AAGACATTCAGGGCCTCTCGTC -3'

Posted On

2016-05-10