Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02883:Uggt1'

362881

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uggt1

Ensembl Gene

ENSMUSG00000037470

Gene Name

UDP-glucose glycoprotein glucosyltransferase 1

Synonyms

C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

36179109-36283407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36216696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 96 (N96K)

Ref Sequence

ENSEMBL: ENSMUSP00000134078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000173166] [ENSMUST00000174266]

AlphaFold

Q6P5E4

Predicted Effect

probably benign
Transcript: ENSMUST00000046875
AA Change: N713K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: N713K

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
Pfam:UDP-g_GGTase	44	1222	N/A	PFAM
SCOP:d1ga8a_	1256	1521	3e-45	SMART
Blast:BROMO	1414	1453	3e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173166
AA Change: N96K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000174224

Predicted Effect

probably benign
Transcript: ENSMUST00000174266

SMART Domains

Protein: ENSMUSP00000134640
Gene: ENSMUSG00000037470

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
low complexity region	88	97	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174716

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]
PHENOTYPE: Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,766,972 (GRCm39)	S186R	possibly damaging	Het
Acap2	A	G	16: 30,915,163 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,599,506 (GRCm39)	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,944,946 (GRCm39)	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,224,735 (GRCm39)	S36R	probably benign	Het
Crispld1	A	G	1: 17,817,013 (GRCm39)	N190S	possibly damaging	Het
Crtam	A	G	9: 40,905,797 (GRCm39)	V44A	probably benign	Het
Crtc1	C	T	8: 70,858,775 (GRCm39)	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,657,790 (GRCm39)	N254S	probably benign	Het
Dmrta1	T	C	4: 89,577,011 (GRCm39)	S156P	probably benign	Het
Eno2	A	C	6: 124,743,172 (GRCm39)	V188G	probably damaging	Het
Fam20a	A	T	11: 109,565,953 (GRCm39)	I427N	probably damaging	Het
Fat2	T	C	11: 55,147,444 (GRCm39)	K3933E	probably benign	Het
Igkv8-30	T	C	6: 70,094,601 (GRCm39)	M1V	probably null	Het
Ist1	G	A	8: 110,410,300 (GRCm39)		probably benign	Het
Kank4	T	C	4: 98,661,690 (GRCm39)	E765G	possibly damaging	Het
Kat14	T	C	2: 144,235,449 (GRCm39)	L92S	probably damaging	Het
Kcnu1	G	A	8: 26,339,855 (GRCm39)	V58I	probably benign	Het
Lrba	T	A	3: 86,261,513 (GRCm39)	V1489E	probably damaging	Het
Lrba	T	A	3: 86,352,720 (GRCm39)	I1956N	probably damaging	Het
Mdn1	G	A	4: 32,763,199 (GRCm39)	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,563,670 (GRCm39)	G122*	probably null	Het
Nme3	T	C	17: 25,115,880 (GRCm39)	Y78H	probably benign	Het
Pira13	A	G	7: 3,825,179 (GRCm39)	S488P	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,488,997 (GRCm39)	V56G	possibly damaging	Het
Pramel16	T	C	4: 143,676,418 (GRCm39)	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,238,644 (GRCm39)	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,895,430 (GRCm39)	V344A	probably damaging	Het
Selp	G	A	1: 163,957,671 (GRCm39)	A267T	probably benign	Het
Sf3a1	T	A	11: 4,129,192 (GRCm39)	W718R	probably damaging	Het
Taar9	T	C	10: 23,985,378 (GRCm39)	N19D	probably benign	Het
Tas2r113	T	G	6: 132,870,382 (GRCm39)	S137A	probably damaging	Het
Traf4	A	T	11: 78,052,447 (GRCm39)	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,129,849 (GRCm39)	T164S	probably benign	Het
Uqcc1	T	A	2: 155,753,749 (GRCm39)	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,083,440 (GRCm39)	K48R	probably benign	Het

Other mutations in Uggt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Uggt1	APN	1	36,218,633 (GRCm39)	splice site	probably benign
IGL00817:Uggt1	APN	1	36,225,013 (GRCm39)	missense	probably benign	0.03
IGL01395:Uggt1	APN	1	36,194,158 (GRCm39)	missense	probably damaging	1.00
IGL01609:Uggt1	APN	1	36,221,555 (GRCm39)	missense	probably damaging	1.00
IGL01619:Uggt1	APN	1	36,200,775 (GRCm39)	missense	probably damaging	0.99
IGL02077:Uggt1	APN	1	36,215,875 (GRCm39)	missense	probably damaging	0.99
IGL02313:Uggt1	APN	1	36,223,565 (GRCm39)	missense	probably damaging	0.99
IGL02341:Uggt1	APN	1	36,203,600 (GRCm39)	makesense	probably null
IGL02346:Uggt1	APN	1	36,218,751 (GRCm39)	missense	probably benign	0.00
IGL02447:Uggt1	APN	1	36,189,223 (GRCm39)	missense	probably damaging	1.00
IGL02930:Uggt1	APN	1	36,196,537 (GRCm39)	missense	probably benign	0.01
IGL03153:Uggt1	APN	1	36,241,899 (GRCm39)	missense	possibly damaging	0.94
IGL03162:Uggt1	APN	1	36,247,037 (GRCm39)	missense	probably damaging	1.00
IGL03170:Uggt1	APN	1	36,202,342 (GRCm39)	missense	probably damaging	1.00
IGL03266:Uggt1	APN	1	36,189,129 (GRCm39)	missense	probably damaging	1.00
K3955:Uggt1	UTSW	1	36,201,434 (GRCm39)	missense	probably benign	0.37
R0037:Uggt1	UTSW	1	36,225,013 (GRCm39)	missense	probably benign	0.03
R0037:Uggt1	UTSW	1	36,225,013 (GRCm39)	missense	probably benign	0.03
R0167:Uggt1	UTSW	1	36,209,278 (GRCm39)	critical splice donor site	probably null
R0373:Uggt1	UTSW	1	36,218,751 (GRCm39)	missense	probably benign	0.00
R0502:Uggt1	UTSW	1	36,199,027 (GRCm39)	missense	probably damaging	1.00
R0546:Uggt1	UTSW	1	36,235,052 (GRCm39)	missense	probably benign	0.00
R0610:Uggt1	UTSW	1	36,204,587 (GRCm39)	splice site	probably benign
R0671:Uggt1	UTSW	1	36,194,209 (GRCm39)	missense	probably damaging	1.00
R0760:Uggt1	UTSW	1	36,200,805 (GRCm39)	missense	possibly damaging	0.68
R0825:Uggt1	UTSW	1	36,197,224 (GRCm39)	missense	probably benign	0.01
R0827:Uggt1	UTSW	1	36,195,394 (GRCm39)	critical splice acceptor site	probably null
R0884:Uggt1	UTSW	1	36,214,159 (GRCm39)	missense	probably benign	0.00
R1112:Uggt1	UTSW	1	36,212,627 (GRCm39)	missense	possibly damaging	0.54
R1470:Uggt1	UTSW	1	36,215,877 (GRCm39)	missense	probably benign	0.13
R1470:Uggt1	UTSW	1	36,215,877 (GRCm39)	missense	probably benign	0.13
R1592:Uggt1	UTSW	1	36,241,939 (GRCm39)	missense	probably benign	0.04
R1730:Uggt1	UTSW	1	36,260,342 (GRCm39)	missense	probably benign	0.05
R1923:Uggt1	UTSW	1	36,218,694 (GRCm39)	missense	probably damaging	0.99
R1970:Uggt1	UTSW	1	36,190,862 (GRCm39)	missense	probably damaging	1.00
R2086:Uggt1	UTSW	1	36,231,495 (GRCm39)	missense	probably null	1.00
R2829:Uggt1	UTSW	1	36,201,375 (GRCm39)	missense	probably benign	0.38
R3431:Uggt1	UTSW	1	36,249,140 (GRCm39)	nonsense	probably null
R3432:Uggt1	UTSW	1	36,249,140 (GRCm39)	nonsense	probably null
R3725:Uggt1	UTSW	1	36,221,588 (GRCm39)	nonsense	probably null
R3880:Uggt1	UTSW	1	36,215,885 (GRCm39)	intron	probably benign
R4052:Uggt1	UTSW	1	36,203,570 (GRCm39)	missense	probably damaging	0.98
R4133:Uggt1	UTSW	1	36,197,240 (GRCm39)	missense	probably damaging	1.00
R4489:Uggt1	UTSW	1	36,185,749 (GRCm39)	nonsense	probably null
R4570:Uggt1	UTSW	1	36,189,154 (GRCm39)	missense	probably damaging	1.00
R4866:Uggt1	UTSW	1	36,241,936 (GRCm39)	nonsense	probably null
R4895:Uggt1	UTSW	1	36,195,345 (GRCm39)	missense	probably damaging	1.00
R4900:Uggt1	UTSW	1	36,241,936 (GRCm39)	nonsense	probably null
R5372:Uggt1	UTSW	1	36,283,141 (GRCm39)	splice site	probably benign
R5385:Uggt1	UTSW	1	36,223,493 (GRCm39)	missense	probably damaging	1.00
R5652:Uggt1	UTSW	1	36,255,234 (GRCm39)	nonsense	probably null
R5694:Uggt1	UTSW	1	36,218,737 (GRCm39)	missense	probably damaging	1.00
R5732:Uggt1	UTSW	1	36,200,852 (GRCm39)	splice site	probably null
R5893:Uggt1	UTSW	1	36,266,709 (GRCm39)	splice site	probably null
R6191:Uggt1	UTSW	1	36,201,289 (GRCm39)	missense	probably damaging	0.98
R6247:Uggt1	UTSW	1	36,202,309 (GRCm39)	missense	probably damaging	1.00
R6259:Uggt1	UTSW	1	36,273,997 (GRCm39)	missense	probably benign	0.00
R6399:Uggt1	UTSW	1	36,202,447 (GRCm39)	missense	possibly damaging	0.90
R6439:Uggt1	UTSW	1	36,214,032 (GRCm39)	missense	possibly damaging	0.95
R6468:Uggt1	UTSW	1	36,212,531 (GRCm39)	missense	probably benign	0.00
R6788:Uggt1	UTSW	1	36,269,769 (GRCm39)	missense	probably benign	0.00
R7165:Uggt1	UTSW	1	36,194,188 (GRCm39)	missense	probably benign	0.41
R7255:Uggt1	UTSW	1	36,185,187 (GRCm39)	missense	probably damaging	1.00
R7273:Uggt1	UTSW	1	36,201,302 (GRCm39)	missense	probably damaging	0.99
R7469:Uggt1	UTSW	1	36,190,814 (GRCm39)	missense	probably damaging	1.00
R7490:Uggt1	UTSW	1	36,203,589 (GRCm39)	missense	probably benign	0.01
R7570:Uggt1	UTSW	1	36,224,919 (GRCm39)	missense	probably benign	0.09
R7612:Uggt1	UTSW	1	36,202,316 (GRCm39)	missense	probably damaging	0.99
R7759:Uggt1	UTSW	1	36,185,806 (GRCm39)	missense	possibly damaging	0.81
R7792:Uggt1	UTSW	1	36,247,065 (GRCm39)	missense	probably damaging	1.00
R7816:Uggt1	UTSW	1	36,202,396 (GRCm39)	missense	possibly damaging	0.95
R7858:Uggt1	UTSW	1	36,195,339 (GRCm39)	missense	probably damaging	1.00
R7887:Uggt1	UTSW	1	36,247,115 (GRCm39)	missense	probably damaging	0.99
R8040:Uggt1	UTSW	1	36,250,554 (GRCm39)	missense	possibly damaging	0.70
R8093:Uggt1	UTSW	1	36,266,566 (GRCm39)	missense	probably damaging	1.00
R8245:Uggt1	UTSW	1	36,204,645 (GRCm39)	missense	probably damaging	1.00
R8338:Uggt1	UTSW	1	36,266,602 (GRCm39)	missense	probably damaging	1.00
R8353:Uggt1	UTSW	1	36,209,377 (GRCm39)	critical splice acceptor site	probably null
R8442:Uggt1	UTSW	1	36,212,568 (GRCm39)	missense	probably damaging	0.99
R8519:Uggt1	UTSW	1	36,215,724 (GRCm39)	splice site	probably null
R8529:Uggt1	UTSW	1	36,223,513 (GRCm39)	missense	possibly damaging	0.85
R8730:Uggt1	UTSW	1	36,236,624 (GRCm39)	critical splice donor site	probably null
R8917:Uggt1	UTSW	1	36,185,735 (GRCm39)	missense
R8947:Uggt1	UTSW	1	36,197,229 (GRCm39)	missense	probably benign	0.12
R9240:Uggt1	UTSW	1	36,221,696 (GRCm39)	missense	possibly damaging	0.50
R9248:Uggt1	UTSW	1	36,249,103 (GRCm39)	missense	possibly damaging	0.80
R9401:Uggt1	UTSW	1	36,255,212 (GRCm39)	critical splice donor site	probably null
R9414:Uggt1	UTSW	1	36,223,507 (GRCm39)	missense	probably benign	0.01
R9416:Uggt1	UTSW	1	36,203,603 (GRCm39)	missense
R9441:Uggt1	UTSW	1	36,260,306 (GRCm39)	missense	probably benign	0.02
R9489:Uggt1	UTSW	1	36,273,886 (GRCm39)	critical splice donor site	probably null
R9563:Uggt1	UTSW	1	36,204,627 (GRCm39)	missense	possibly damaging	0.60
R9605:Uggt1	UTSW	1	36,273,886 (GRCm39)	critical splice donor site	probably null
X0022:Uggt1	UTSW	1	36,204,636 (GRCm39)	missense	possibly damaging	0.67
Z1088:Uggt1	UTSW	1	36,213,272 (GRCm39)	missense	probably damaging	1.00
Z1176:Uggt1	UTSW	1	36,200,776 (GRCm39)	missense	probably damaging	1.00
Z1177:Uggt1	UTSW	1	36,194,154 (GRCm39)	missense	probably null	1.00

Posted On

2015-12-18