Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Gale'

345424

Institutional Source

Beutler Lab

Gene Symbol

Gale

Ensembl Gene

ENSMUSG00000028671

Gene Name

galactose-4-epimerase, UDP

Synonyms

2310002A12Rik

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135691038-135695489 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 135695148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 341 (S341*)

Ref Sequence

ENSEMBL: ENSMUSP00000099600 (fasta)

Gene Model

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

AlphaFold

Q8R059

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 null
Transcript: ENSMUST00000102540
AA Change: S341*

SMART Domains

Protein: ENSMUSP00000099599
Gene: ENSMUSG00000028671
AA Change: S341*

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 null
Transcript: ENSMUST00000102541
AA Change: S341*

SMART Domains

Protein: ENSMUSP00000099600
Gene: ENSMUSG00000028671
AA Change: S341*

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

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

noncoding transcript
Transcript: ENSMUST00000145350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150430

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,854,626 (GRCm39)	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,362,494 (GRCm39)	R677G	probably benign	Het
Apc	T	A	18: 34,451,040 (GRCm39)	Y2611*	probably null	Het
Apold1	A	G	6: 134,961,032 (GRCm39)	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,055,737 (GRCm39)	I325V	probably benign	Het
Cab39	A	G	1: 85,776,050 (GRCm39)	Y249C	probably damaging	Het
Cd22	T	A	7: 30,575,325 (GRCm39)	H239L	probably damaging	Het
Chrna7	A	G	7: 62,753,538 (GRCm39)	M327T	probably damaging	Het
Cimip2b	T	C	4: 43,427,574 (GRCm39)	H250R	possibly damaging	Het
Clock	T	C	5: 76,383,657 (GRCm39)	M499V	probably benign	Het
Clspn	A	G	4: 126,475,253 (GRCm39)	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819 (GRCm39)	P10S	probably damaging	Het
Col5a3	A	G	9: 20,685,855 (GRCm39)		probably null	Het
Coq6	T	C	12: 84,408,913 (GRCm39)	V30A	probably benign	Het
Csmd2	G	T	4: 127,881,921 (GRCm39)	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,038,528 (GRCm39)	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,865,861 (GRCm39)	P153S	probably benign	Het
Dock2	T	A	11: 34,189,536 (GRCm39)	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,839,546 (GRCm39)	G354C	probably damaging	Het
Dyrk1b	T	C	7: 27,881,856 (GRCm39)	L105P	probably damaging	Het
Epor	A	G	9: 21,873,155 (GRCm39)	S86P	probably benign	Het
Galnt4	T	A	10: 98,945,355 (GRCm39)	V360E	probably damaging	Het
Gart	A	T	16: 91,419,833 (GRCm39)	C24*	probably null	Het
Gcnt2	G	T	13: 41,040,966 (GRCm39)	V42L	probably benign	Het
Herc6	A	G	6: 57,636,698 (GRCm39)	I805V	probably benign	Het
Ints12	T	A	3: 132,804,214 (GRCm39)	I67N	probably benign	Het
Irx1	C	A	13: 72,108,232 (GRCm39)	R150L	probably damaging	Het
Kif26b	A	G	1: 178,358,024 (GRCm39)	Y45C	unknown	Het
Krt35	T	C	11: 99,984,834 (GRCm39)	T275A	probably damaging	Het
Laptm5	G	T	4: 130,643,316 (GRCm39)		probably benign	Het
Lin7a	T	C	10: 107,248,027 (GRCm39)	S111P	unknown	Het
Med27	A	G	2: 29,414,470 (GRCm39)	D159G	probably damaging	Het
Msh2	A	G	17: 88,016,006 (GRCm39)	K546R	probably damaging	Het
Myo1a	A	T	10: 127,556,020 (GRCm39)		probably null	Het
Myo1c	T	C	11: 75,559,019 (GRCm39)	F604L	probably damaging	Het
Myrip	A	G	9: 120,293,850 (GRCm39)	K782E	probably damaging	Het
Ndc80	T	C	17: 71,828,063 (GRCm39)	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,505,282 (GRCm39)	D375G	probably damaging	Het
Or2y10	T	C	11: 49,455,545 (GRCm39)	S266P	probably damaging	Het
Or52e7	A	G	7: 104,685,280 (GRCm39)	I292V	probably benign	Het
Padi3	T	C	4: 140,525,422 (GRCm39)	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,814,610 (GRCm39)	N367I	probably damaging	Het
Pdrg1	T	C	2: 152,854,310 (GRCm39)	I77V	probably benign	Het
Pfas	T	C	11: 68,881,895 (GRCm39)	E930G	probably benign	Het
Pik3cb	C	T	9: 98,943,817 (GRCm39)	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,971,237 (GRCm39)	V177E	probably damaging	Het
Prmt7	A	G	8: 106,976,961 (GRCm39)	S558G	possibly damaging	Het
Pspc1	A	C	14: 57,015,246 (GRCm39)		probably null	Het
Rilp	T	C	11: 75,403,586 (GRCm39)	S343P	probably benign	Het
Ror1	A	G	4: 100,265,107 (GRCm39)	M194V	probably damaging	Het
Rsu1	T	C	2: 13,174,815 (GRCm39)	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,324,752 (GRCm39)	N486S	probably damaging	Het
Sema6d	T	A	2: 124,496,151 (GRCm39)	I65N	probably damaging	Het
Slc5a11	A	G	7: 122,857,601 (GRCm39)	E230G	probably benign	Het
Spint1	T	C	2: 119,076,941 (GRCm39)	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,551,923 (GRCm39)	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,604,323 (GRCm39)	T271P	probably damaging	Het
Tie1	A	G	4: 118,329,831 (GRCm39)	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,511,125 (GRCm39)	Y375C	probably benign	Het
Tmem107	T	A	11: 68,962,274 (GRCm39)	M77K	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tns3	T	C	11: 8,481,747 (GRCm39)	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,670,347 (GRCm39)	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ush2a	A	G	1: 188,643,844 (GRCm39)	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,304,322 (GRCm39)	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,210,126 (GRCm39)		probably null	Het
Zp3	A	T	5: 136,013,089 (GRCm39)	K168*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CTTTGCAGATCCCGTACAAGGTG -3'
(R):5'- TCAGTGGAACCAGAGGTCTC -3'

Sequencing Primer
(F):5'- ATCCCGTACAAGGTGGTGGC -3'
(R):5'- AACCAGAGGTCTCCTGCCTG -3'

Posted On

2015-09-25