Mutagenetix > Incidental Mutation

Incidental Mutation 'R8157:Galt'

633054

Institutional Source

Beutler Lab

Gene Symbol

Galt

Ensembl Gene

ENSMUSG00000036073

Gene Name

galactose-1-phosphate uridyl transferase

Synonyms

MMRRC Submission

067583-MU

Accession Numbers

Essential gene?

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

Stock #

R8157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41755228-41758695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41757226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 193 (Q193L)

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 benign
Transcript: ENSMUST00000084695
AA Change: Q193L

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081745
Gene: ENSMUSG00000036073
AA Change: Q193L

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

possibly damaging
Transcript: ENSMUST00000108038
AA Change: Q193L

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103673
Gene: ENSMUSG00000036073
AA Change: Q193L

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310011J03Rik	T	A	10: 80,155,361 (GRCm39)	R51W	probably damaging	Het
Adam3	A	G	8: 25,197,453 (GRCm39)	I326T	probably benign	Het
Alpk3	A	G	7: 80,743,470 (GRCm39)	K1096E	probably benign	Het
Aph1a	T	C	3: 95,802,150 (GRCm39)	V44A	possibly damaging	Het
Ash1l	T	A	3: 88,971,014 (GRCm39)		probably null	Het
Atg2b	A	G	12: 105,629,199 (GRCm39)	M410T	probably damaging	Het
Castor2	T	C	5: 134,165,936 (GRCm39)	F228S	possibly damaging	Het
Ccdc15	C	T	9: 37,226,753 (GRCm39)	G407D	probably benign	Het
Cd200r4	T	A	16: 44,653,504 (GRCm39)	N137K	probably damaging	Het
Clec18a	A	G	8: 111,798,683 (GRCm39)	L438P	probably damaging	Het
Clip1	A	G	5: 123,768,782 (GRCm39)	S606P	probably benign	Het
Col11a2	G	A	17: 34,280,230 (GRCm39)	G1193E	unknown	Het
Col6a4	A	G	9: 105,945,097 (GRCm39)	S1006P	possibly damaging	Het
Ctsc	A	T	7: 87,951,416 (GRCm39)	D221V	probably benign	Het
Ctse	T	C	1: 131,600,249 (GRCm39)	Y333H	probably damaging	Het
Cyp2c23	T	C	19: 44,010,066 (GRCm39)	N93S	probably benign	Het
Daam1	A	T	12: 71,999,263 (GRCm39)	D633V	probably damaging	Het
Dlg2	G	A	7: 92,036,140 (GRCm39)	R607H	probably damaging	Het
Dsg2	T	A	18: 20,713,606 (GRCm39)	D192E	probably damaging	Het
Dync2h1	A	T	9: 7,001,473 (GRCm39)	N3838K	possibly damaging	Het
Ephx2	A	C	14: 66,345,506 (GRCm39)	S153A	probably damaging	Het
Eprs1	C	A	1: 185,130,591 (GRCm39)	H651N	probably benign	Het
Fat2	T	C	11: 55,142,910 (GRCm39)	D4313G	possibly damaging	Het
Fras1	A	G	5: 96,702,714 (GRCm39)	K252R	probably benign	Het
Gm7356	T	C	17: 14,221,583 (GRCm39)	K149E	probably damaging	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd1	T	A	12: 51,838,073 (GRCm39)	R696S	possibly damaging	Het
Hydin	A	G	8: 111,178,668 (GRCm39)	I1088V	probably benign	Het
Igkv4-68	A	T	6: 69,282,306 (GRCm39)	S14R	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Lrit3	T	C	3: 129,594,284 (GRCm39)	T98A	probably benign	Het
Macc1	A	G	12: 119,409,728 (GRCm39)	I165M	probably benign	Het
Mapre2	T	A	18: 23,991,218 (GRCm39)	M162K	probably benign	Het
Mzf1	T	A	7: 12,778,279 (GRCm39)	H454L	probably damaging	Het
Naa30	T	A	14: 49,410,865 (GRCm39)	N264K	probably benign	Het
Or5ac17	A	G	16: 59,036,352 (GRCm39)	V208A	probably benign	Het
Or8d2	T	A	9: 38,759,762 (GRCm39)	Y117*	probably null	Het
Osr2	T	C	15: 35,302,063 (GRCm39)	I221T	probably benign	Het
Pcdh12	A	T	18: 38,415,850 (GRCm39)	I425K	probably benign	Het
Pcdhb3	T	G	18: 37,436,292 (GRCm39)	Y753D	probably damaging	Het
Pcdhb9	T	A	18: 37,536,208 (GRCm39)	V734E	probably damaging	Het
Pibf1	T	A	14: 99,433,831 (GRCm39)	L593I	probably benign	Het
Prag1	G	A	8: 36,614,393 (GRCm39)	C1315Y	probably damaging	Het
Prl3c1	T	C	13: 27,383,330 (GRCm39)	S19P	probably damaging	Het
Ptprz1	A	T	6: 23,002,539 (GRCm39)	D1543V	probably damaging	Het
Ripor2	A	G	13: 24,879,600 (GRCm39)	N356S	probably benign	Het
Rmc1	T	C	18: 12,321,690 (GRCm39)	V497A	possibly damaging	Het
Saxo4	A	T	19: 10,455,629 (GRCm39)	F207I	probably damaging	Het
Scrib	T	C	15: 75,931,037 (GRCm39)	H914R	possibly damaging	Het
Sema6b	G	A	17: 56,435,448 (GRCm39)	A265V	probably damaging	Het
Tdrd9	C	G	12: 111,951,500 (GRCm39)	L97V	probably benign	Het
Tle7	A	G	8: 110,835,493 (GRCm39)	M24V	probably benign	Het
Trabd	T	A	15: 88,970,024 (GRCm39)	L340H	probably damaging	Het
Trpm1	T	C	7: 63,849,017 (GRCm39)	W88R	probably damaging	Het
Txndc12	G	T	4: 108,710,419 (GRCm39)		probably null	Het
Vmn1r175	T	C	7: 23,508,523 (GRCm39)	I35V	probably benign	Het
Vmn1r48	A	T	6: 90,012,994 (GRCm39)	V277E	probably damaging	Het
Vmn2r72	G	A	7: 85,400,441 (GRCm39)	H203Y	probably benign	Het
Zbtb7c	A	G	18: 76,270,398 (GRCm39)	E162G	probably benign	Het
Zfp93	T	A	7: 23,975,885 (GRCm39)	C623*	probably null	Het
Zzz3	A	G	3: 152,155,285 (GRCm39)	I645V	probably null	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
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
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'- CAGGCAAGTATGTGACAGGC -3'
(R):5'- AGAAGGCTCTCACTAGCACC -3'

Sequencing Primer
(F):5'- CAAGTATGTGACAGGCCTTAATG -3'
(R):5'- GGCTCTCACTAGCACCTACCC -3'

Posted On

2020-06-30