Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01525:Galt'

89538

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Galt

Ensembl Gene

ENSMUSG00000036073

Gene Name

galactose-1-phosphate uridyl transferase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

IGL01525

Quality Score

Status

Chromosome

Chromosomal Location

41755228-41758695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41756068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 45 (T45A)

Ref Sequence

ENSEMBL: ENSMUSP00000103673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084695] [ENSMUST00000098132] [ENSMUST00000108038] [ENSMUST00000108040] [ENSMUST00000108041]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000084695
AA Change: T45A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000081745
Gene: ENSMUSG00000036073
AA Change: T45A

Domain	Start	End	E-Value	Type
Pfam:GalP_UDP_transf	3	177	1.8e-68	PFAM
Pfam:GalP_UDP_tr_C	183	351	2.1e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098132

SMART Domains

Protein: ENSMUSP00000095736
Gene: ENSMUSG00000073889

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	33	108	5.75e-4	SMART
FN3	112	204	2.18e-2	SMART
FN3	218	304	4.93e-1	SMART
low complexity region	354	365	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108038
AA Change: T45A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103673
Gene: ENSMUSG00000036073
AA Change: T45A

Domain	Start	End	E-Value	Type
Pfam:GalP_UDP_transf	3	177	3.1e-69	PFAM
Pfam:GalP_UDP_tr_C	183	351	3.8e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108040

SMART Domains

Protein: ENSMUSP00000103675
Gene: ENSMUSG00000073889

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	33	108	5.75e-4	SMART
FN3	112	204	2.18e-2	SMART
FN3	218	304	4.93e-1	SMART
low complexity region	354	365	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108041

SMART Domains

Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	33	108	5.75e-4	SMART
FN3	112	204	2.18e-2	SMART
FN3	218	304	4.93e-1	SMART
low complexity region	354	365	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132760

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is the second enzyme in the Leloir pathway, the metabolic pathway for D-galactose catabolism. It catalyzes the conversion of galactose-1-phosphate and uridine diphosphate-glucose to glucose-1-phosphate and uridine diphosphate galactose. Deficiency of this enzyme causes the genetic metabolic disorder galactosemia. Mice lacking this protein accumulate high levels of galactose and galactose-1 phosphate but are viable and fertile. This protein is negatively regulated through signaling by the polypeptide hormone prolactin, specifically via the short isoform of the prolactin receptor and the transcription factor Forkhead box O3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal galactose metabolism, but lack symptoms of acute toxicity seen in humans with galactosemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	G	15: 74,458,684 (GRCm39)	E322G	probably damaging	Het
Aldh8a1	A	T	10: 21,267,472 (GRCm39)	I286F	probably damaging	Het
Arnt2	T	A	7: 83,924,616 (GRCm39)	T404S	possibly damaging	Het
Asb1	A	G	1: 91,479,846 (GRCm39)	T190A	probably damaging	Het
Atp8b1	G	A	18: 64,672,323 (GRCm39)	R1014*	probably null	Het
Dgcr8	T	C	16: 18,101,808 (GRCm39)	D158G	probably damaging	Het
Dock5	A	G	14: 68,043,169 (GRCm39)		probably benign	Het
Fras1	C	T	5: 96,887,195 (GRCm39)	T2659I	probably damaging	Het
Gtpbp3	A	G	8: 71,943,078 (GRCm39)	D164G	probably damaging	Het
Ift70b	A	T	2: 75,767,226 (GRCm39)	M509K	probably damaging	Het
Kmt2c	T	A	5: 25,534,439 (GRCm39)		probably benign	Het
Lrrc59	A	T	11: 94,525,522 (GRCm39)	Q106L	probably damaging	Het
Mgat4c	A	G	10: 102,214,057 (GRCm39)	I13M	probably damaging	Het
Muc19	T	A	15: 91,770,877 (GRCm39)		noncoding transcript	Het
Myo5b	C	T	18: 74,873,620 (GRCm39)	A1508V	probably damaging	Het
Or2o1	A	G	11: 49,051,501 (GRCm39)	Y220C	probably damaging	Het
Or52ad1	T	A	7: 102,995,386 (GRCm39)	I250F	probably benign	Het
Or5d39	T	C	2: 87,980,221 (GRCm39)	I47M	probably benign	Het
Plxna2	A	G	1: 194,394,619 (GRCm39)	E500G	probably benign	Het
Psme4	T	A	11: 30,759,936 (GRCm39)		probably benign	Het
S100a8	A	T	3: 90,576,876 (GRCm39)	S10C	probably damaging	Het
Sdk1	T	C	5: 141,985,675 (GRCm39)	V769A	probably damaging	Het
Sorbs1	G	T	19: 40,338,422 (GRCm39)	T326K	probably damaging	Het
Spata31d1b	T	C	13: 59,860,280 (GRCm39)	I51T	probably benign	Het
Thumpd3	T	C	6: 113,024,597 (GRCm39)	S64P	probably damaging	Het
Ticrr	T	C	7: 79,332,197 (GRCm39)	L843P	probably damaging	Het
Ttn	A	T	2: 76,641,108 (GRCm39)	I13587N	probably damaging	Het
Txndc2	A	G	17: 65,945,908 (GRCm39)	S90P	possibly damaging	Het

Other mutations in Galt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Galt	APN	4	41,758,570 (GRCm39)	missense	probably benign	0.02
IGL01150:Galt	APN	4	41,757,786 (GRCm39)	unclassified	probably benign
IGL01720:Galt	APN	4	41,757,463 (GRCm39)	missense	probably damaging	1.00
IGL02247:Galt	APN	4	41,755,623 (GRCm39)	intron	probably benign
IGL02576:Galt	APN	4	41,755,953 (GRCm39)	intron	probably benign
PIT4802001:Galt	UTSW	4	41,756,764 (GRCm39)	missense	probably damaging	1.00
R1726:Galt	UTSW	4	41,756,001 (GRCm39)	nonsense	probably null
R2085:Galt	UTSW	4	41,758,162 (GRCm39)	missense	probably damaging	1.00
R2112:Galt	UTSW	4	41,758,245 (GRCm39)	missense	probably benign
R4783:Galt	UTSW	4	41,758,189 (GRCm39)	missense	probably damaging	0.99
R6031:Galt	UTSW	4	41,757,202 (GRCm39)	missense	probably benign	0.01
R6031:Galt	UTSW	4	41,757,202 (GRCm39)	missense	probably benign	0.01
R6171:Galt	UTSW	4	41,757,541 (GRCm39)	missense	probably damaging	1.00
R6357:Galt	UTSW	4	41,757,565 (GRCm39)	missense	probably benign	0.00
R7233:Galt	UTSW	4	41,758,267 (GRCm39)	missense	probably benign	0.04
R7410:Galt	UTSW	4	41,757,707 (GRCm39)	missense	possibly damaging	0.47
R8157:Galt	UTSW	4	41,757,226 (GRCm39)	missense	probably benign	0.33
R9090:Galt	UTSW	4	41,756,777 (GRCm39)	missense	probably benign	0.01
R9271:Galt	UTSW	4	41,756,777 (GRCm39)	missense	probably benign	0.01
R9473:Galt	UTSW	4	41,757,575 (GRCm39)	missense	probably benign
R9745:Galt	UTSW	4	41,758,185 (GRCm39)	missense	possibly damaging	0.70

Posted On

2013-12-03