Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4802001:Galt'

556720

Institutional Source

Beutler Lab

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 #

PIT4802001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41755228-41758695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41756764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 135 (W135R)

Ref Sequence

ENSEMBL: ENSMUSP00000081745 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000084695
AA Change: W135R

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

SMART Domains

Protein: ENSMUSP00000081745
Gene: ENSMUSG00000036073
AA Change: W135R

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 damaging
Transcript: ENSMUST00000108038
AA Change: W135R

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

SMART Domains

Protein: ENSMUSP00000103673
Gene: ENSMUSG00000036073
AA Change: W135R

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

Coding Region Coverage

1x: 93.6%
3x: 91.0%
10x: 85.4%
20x: 73.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,902,172 (GRCm39)	D741E	probably benign	Het
Abca16	A	G	7: 120,139,351 (GRCm39)	D1461G	probably benign	Het
Adam6a	G	T	12: 113,509,078 (GRCm39)	D484Y	probably damaging	Het
Akap5	T	C	12: 76,376,706 (GRCm39)	Y713H	probably damaging	Het
AW554918	A	G	18: 25,473,132 (GRCm39)	E312G	possibly damaging	Het
Car4	G	A	11: 84,855,231 (GRCm39)	A157T	probably damaging	Het
Chst9	A	T	18: 15,585,849 (GRCm39)	M238K	probably benign	Het
Ctbp2	G	A	7: 132,589,974 (GRCm39)	H397Y	possibly damaging	Het
Cyp3a59	A	G	5: 146,039,611 (GRCm39)	M295V	probably benign	Het
Daglb	T	C	5: 143,488,803 (GRCm39)	Y586H	probably benign	Het
Ehbp1l1	G	T	19: 5,769,603 (GRCm39)	P567T	possibly damaging	Het
Emilin2	A	G	17: 71,580,464 (GRCm39)	I754T	probably damaging	Het
Esyt2	G	A	12: 116,329,457 (GRCm39)	A672T	probably benign	Het
Evx1	G	T	6: 52,291,175 (GRCm39)	E116*	probably null	Het
Exph5	T	C	9: 53,286,278 (GRCm39)	S1120P	probably damaging	Het
Fam184a	A	T	10: 53,560,450 (GRCm39)	L515*	probably null	Het
Flt4	T	A	11: 49,523,996 (GRCm39)	D525E	probably benign	Het
Ifitm6	A	T	7: 140,596,648 (GRCm39)	C42S	probably damaging	Het
Ift172	A	G	5: 31,442,610 (GRCm39)	S186P	probably benign	Het
Kcnk3	A	G	5: 30,779,712 (GRCm39)	E254G	probably damaging	Het
Kmt2b	A	G	7: 30,278,996 (GRCm39)	S1509P	probably damaging	Het
Ky	T	A	9: 102,414,972 (GRCm39)	S295T	probably benign	Het
Lrba	T	A	3: 86,571,801 (GRCm39)	Y2368*	probably null	Het
Mtmr4	T	A	11: 87,501,953 (GRCm39)	V669E	probably benign	Het
Myh10	C	T	11: 68,655,918 (GRCm39)	R471C	probably damaging	Het
Nav1	G	A	1: 135,380,671 (GRCm39)	T1416I	unknown	Het
Nrip1	A	C	16: 76,090,157 (GRCm39)	S467A	probably damaging	Het
Ntrk1	T	A	3: 87,695,941 (GRCm39)	N190Y	probably damaging	Het
Or14a256	A	T	7: 86,265,763 (GRCm39)	L30Q	probably null	Het
Or5h25	A	C	16: 58,930,964 (GRCm39)	M3R	probably benign	Het
Pdxp	A	G	15: 78,802,611 (GRCm39)	S282G	probably damaging	Het
Phtf2	A	T	5: 21,006,904 (GRCm39)	S220T	probably damaging	Het
Piezo2	A	T	18: 63,157,540 (GRCm39)	V2390E	probably damaging	Het
Pop1	T	G	15: 34,529,229 (GRCm39)	L783R	probably benign	Het
Prf1	G	A	10: 61,135,972 (GRCm39)	A83T	probably benign	Het
Rab4b	A	G	7: 26,875,267 (GRCm39)	V50A	probably benign	Het
Rtn1	T	A	12: 72,351,100 (GRCm39)	T370S	probably benign	Het
Sdr16c5	T	A	4: 4,012,423 (GRCm39)	I123F	probably damaging	Het
Smg6	T	A	11: 75,046,991 (GRCm39)	V1228D	probably damaging	Het
Smim19	A	G	8: 22,963,539 (GRCm39)	V23A	probably benign	Het
Sox13	A	T	1: 133,313,996 (GRCm39)	I346N	probably damaging	Het
Tap1	T	A	17: 34,412,165 (GRCm39)	Y457N	probably damaging	Het
Tbck	C	T	3: 132,458,427 (GRCm39)	P686S	probably damaging	Het
Tcof1	A	G	18: 60,965,010 (GRCm39)	S570P	unknown	Het
Tmc5	A	T	7: 118,271,449 (GRCm39)	M921L	probably benign	Het
Ttc6	A	G	12: 57,772,462 (GRCm39)	Y1594C	possibly damaging	Het
Virma	T	A	4: 11,546,008 (GRCm39)	H1615Q	probably damaging	Het
Vmn1r19	T	A	6: 57,382,037 (GRCm39)	Y197N	probably damaging	Het
Vps13c	T	C	9: 67,845,068 (GRCm39)	F2051L	probably damaging	Het
Wdr6	C	T	9: 108,451,765 (GRCm39)	C706Y	probably damaging	Het
Zfand4	A	G	6: 116,261,736 (GRCm39)	N100D	probably 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
IGL01525:Galt	APN	4	41,756,068 (GRCm39)	missense	probably benign	0.06
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGTCTGAAGACGAAGACC -3'
(R):5'- TCACATACTTGCCTGGCAGTG -3'

Sequencing Primer
(F):5'- TCTGAAGACGAAGACCTGAGCTTG -3'
(R):5'- GGGTTAGAACAGCCCATCATG -3'

Posted On

2019-06-07