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

Ugcgl1, C820010P03Rik, A930007H10Rik, 0910001L17Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.554) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

36140027-36244720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36177615 bp (GRCm38)

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: 3,716,972 (GRCm38)	S186R	possibly damaging	Het
Acap2	A	G	16: 31,096,345 (GRCm38)		probably benign	Het
Cacna1h	G	T	17: 25,380,532 (GRCm38)	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,707,497 (GRCm38)	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,333,909 (GRCm38)	S36R	probably benign	Het
Crispld1	A	G	1: 17,746,789 (GRCm38)	N190S	possibly damaging	Het
Crtam	A	G	9: 40,994,501 (GRCm38)	V44A	probably benign	Het
Crtc1	C	T	8: 70,406,125 (GRCm38)	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,669,351 (GRCm38)	N254S	probably benign	Het
Dmrta1	T	C	4: 89,688,774 (GRCm38)	S156P	probably benign	Het
Eno2	A	C	6: 124,766,209 (GRCm38)	V188G	probably damaging	Het
Fam20a	A	T	11: 109,675,127 (GRCm38)	I427N	probably damaging	Het
Fat2	T	C	11: 55,256,618 (GRCm38)	K3933E	probably benign	Het
Gm15448	A	G	7: 3,822,180 (GRCm38)	S488P	possibly damaging	Het
Igkv8-30	T	C	6: 70,117,617 (GRCm38)	M1V	probably null	Het
Ist1	G	A	8: 109,683,668 (GRCm38)		probably benign	Het
Kank4	T	C	4: 98,773,453 (GRCm38)	E765G	possibly damaging	Het
Kat14	T	C	2: 144,393,529 (GRCm38)	L92S	probably damaging	Het
Kcnu1	G	A	8: 25,849,827 (GRCm38)	V58I	probably benign	Het
Lrba	T	A	3: 86,445,413 (GRCm38)	I1956N	probably damaging	Het
Lrba	T	A	3: 86,354,206 (GRCm38)	V1489E	probably damaging	Het
Mdn1	G	A	4: 32,763,199 (GRCm38)	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,586,709 (GRCm38)	G122*	probably null	Het
Nme3	T	C	17: 24,896,906 (GRCm38)	Y78H	probably benign	Het
Pkd1l2	G	A	8: 117,065,745 (GRCm38)	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,522,563 (GRCm38)	V56G	possibly damaging	Het
Pramef25	T	C	4: 143,949,848 (GRCm38)	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,327,348 (GRCm38)	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,906,998 (GRCm38)	V344A	probably damaging	Het
Selp	G	A	1: 164,130,102 (GRCm38)	A267T	probably benign	Het
Sf3a1	T	A	11: 4,179,192 (GRCm38)	W718R	probably damaging	Het
Taar9	T	C	10: 24,109,480 (GRCm38)	N19D	probably benign	Het
Tas2r113	T	G	6: 132,893,419 (GRCm38)	S137A	probably damaging	Het
Traf4	A	T	11: 78,161,621 (GRCm38)	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,480,642 (GRCm38)	T164S	probably benign	Het
Uqcc1	T	A	2: 155,911,829 (GRCm38)	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,349,515 (GRCm38)	K48R	probably benign	Het

Other mutations in Uggt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Uggt1	APN	1	36,179,552 (GRCm38)	splice site	probably benign
IGL00817:Uggt1	APN	1	36,185,932 (GRCm38)	missense	probably benign	0.03
IGL01395:Uggt1	APN	1	36,155,077 (GRCm38)	missense	probably damaging	1.00
IGL01609:Uggt1	APN	1	36,182,474 (GRCm38)	missense	probably damaging	1.00
IGL01619:Uggt1	APN	1	36,161,694 (GRCm38)	missense	probably damaging	0.99
IGL02077:Uggt1	APN	1	36,176,794 (GRCm38)	missense	probably damaging	0.99
IGL02313:Uggt1	APN	1	36,184,484 (GRCm38)	missense	probably damaging	0.99
IGL02341:Uggt1	APN	1	36,164,519 (GRCm38)	makesense	probably null
IGL02346:Uggt1	APN	1	36,179,670 (GRCm38)	missense	probably benign	0.00
IGL02447:Uggt1	APN	1	36,150,142 (GRCm38)	missense	probably damaging	1.00
IGL02930:Uggt1	APN	1	36,157,456 (GRCm38)	missense	probably benign	0.01
IGL03153:Uggt1	APN	1	36,202,818 (GRCm38)	missense	possibly damaging	0.94
IGL03162:Uggt1	APN	1	36,207,956 (GRCm38)	missense	probably damaging	1.00
IGL03170:Uggt1	APN	1	36,163,261 (GRCm38)	missense	probably damaging	1.00
IGL03266:Uggt1	APN	1	36,150,048 (GRCm38)	missense	probably damaging	1.00
K3955:Uggt1	UTSW	1	36,162,353 (GRCm38)	missense	probably benign	0.37
R0037:Uggt1	UTSW	1	36,185,932 (GRCm38)	missense	probably benign	0.03
R0037:Uggt1	UTSW	1	36,185,932 (GRCm38)	missense	probably benign	0.03
R0167:Uggt1	UTSW	1	36,170,197 (GRCm38)	critical splice donor site	probably null
R0373:Uggt1	UTSW	1	36,179,670 (GRCm38)	missense	probably benign	0.00
R0502:Uggt1	UTSW	1	36,159,946 (GRCm38)	missense	probably damaging	1.00
R0546:Uggt1	UTSW	1	36,195,971 (GRCm38)	missense	probably benign	0.00
R0610:Uggt1	UTSW	1	36,165,506 (GRCm38)	splice site	probably benign
R0671:Uggt1	UTSW	1	36,155,128 (GRCm38)	missense	probably damaging	1.00
R0760:Uggt1	UTSW	1	36,161,724 (GRCm38)	missense	possibly damaging	0.68
R0825:Uggt1	UTSW	1	36,158,143 (GRCm38)	missense	probably benign	0.01
R0827:Uggt1	UTSW	1	36,156,313 (GRCm38)	critical splice acceptor site	probably null
R0884:Uggt1	UTSW	1	36,175,078 (GRCm38)	missense	probably benign	0.00
R1112:Uggt1	UTSW	1	36,173,546 (GRCm38)	missense	possibly damaging	0.54
R1470:Uggt1	UTSW	1	36,176,796 (GRCm38)	missense	probably benign	0.13
R1470:Uggt1	UTSW	1	36,176,796 (GRCm38)	missense	probably benign	0.13
R1592:Uggt1	UTSW	1	36,202,858 (GRCm38)	missense	probably benign	0.04
R1730:Uggt1	UTSW	1	36,221,261 (GRCm38)	missense	probably benign	0.05
R1923:Uggt1	UTSW	1	36,179,613 (GRCm38)	missense	probably damaging	0.99
R1970:Uggt1	UTSW	1	36,151,781 (GRCm38)	missense	probably damaging	1.00
R2086:Uggt1	UTSW	1	36,192,414 (GRCm38)	missense	probably null	1.00
R2829:Uggt1	UTSW	1	36,162,294 (GRCm38)	missense	probably benign	0.38
R3431:Uggt1	UTSW	1	36,210,059 (GRCm38)	nonsense	probably null
R3432:Uggt1	UTSW	1	36,210,059 (GRCm38)	nonsense	probably null
R3725:Uggt1	UTSW	1	36,182,507 (GRCm38)	nonsense	probably null
R3880:Uggt1	UTSW	1	36,176,804 (GRCm38)	intron	probably benign
R4052:Uggt1	UTSW	1	36,164,489 (GRCm38)	missense	probably damaging	0.98
R4133:Uggt1	UTSW	1	36,158,159 (GRCm38)	missense	probably damaging	1.00
R4489:Uggt1	UTSW	1	36,146,668 (GRCm38)	nonsense	probably null
R4570:Uggt1	UTSW	1	36,150,073 (GRCm38)	missense	probably damaging	1.00
R4866:Uggt1	UTSW	1	36,202,855 (GRCm38)	nonsense	probably null
R4895:Uggt1	UTSW	1	36,156,264 (GRCm38)	missense	probably damaging	1.00
R4900:Uggt1	UTSW	1	36,202,855 (GRCm38)	nonsense	probably null
R5372:Uggt1	UTSW	1	36,244,060 (GRCm38)	splice site	probably benign
R5385:Uggt1	UTSW	1	36,184,412 (GRCm38)	missense	probably damaging	1.00
R5652:Uggt1	UTSW	1	36,216,153 (GRCm38)	nonsense	probably null
R5694:Uggt1	UTSW	1	36,179,656 (GRCm38)	missense	probably damaging	1.00
R5732:Uggt1	UTSW	1	36,161,771 (GRCm38)	splice site	probably null
R5893:Uggt1	UTSW	1	36,227,628 (GRCm38)	splice site	probably null
R6191:Uggt1	UTSW	1	36,162,208 (GRCm38)	missense	probably damaging	0.98
R6247:Uggt1	UTSW	1	36,163,228 (GRCm38)	missense	probably damaging	1.00
R6259:Uggt1	UTSW	1	36,234,916 (GRCm38)	missense	probably benign	0.00
R6399:Uggt1	UTSW	1	36,163,366 (GRCm38)	missense	possibly damaging	0.90
R6439:Uggt1	UTSW	1	36,174,951 (GRCm38)	missense	possibly damaging	0.95
R6468:Uggt1	UTSW	1	36,173,450 (GRCm38)	missense	probably benign	0.00
R6788:Uggt1	UTSW	1	36,230,688 (GRCm38)	missense	probably benign	0.00
R7165:Uggt1	UTSW	1	36,155,107 (GRCm38)	missense	probably benign	0.41
R7255:Uggt1	UTSW	1	36,146,106 (GRCm38)	missense	probably damaging	1.00
R7273:Uggt1	UTSW	1	36,162,221 (GRCm38)	missense	probably damaging	0.99
R7469:Uggt1	UTSW	1	36,151,733 (GRCm38)	missense	probably damaging	1.00
R7490:Uggt1	UTSW	1	36,164,508 (GRCm38)	missense	probably benign	0.01
R7570:Uggt1	UTSW	1	36,185,838 (GRCm38)	missense	probably benign	0.09
R7612:Uggt1	UTSW	1	36,163,235 (GRCm38)	missense	probably damaging	0.99
R7759:Uggt1	UTSW	1	36,146,725 (GRCm38)	missense	possibly damaging	0.81
R7792:Uggt1	UTSW	1	36,207,984 (GRCm38)	missense	probably damaging	1.00
R7816:Uggt1	UTSW	1	36,163,315 (GRCm38)	missense	possibly damaging	0.95
R7858:Uggt1	UTSW	1	36,156,258 (GRCm38)	missense	probably damaging	1.00
R7887:Uggt1	UTSW	1	36,208,034 (GRCm38)	missense	probably damaging	0.99
R8040:Uggt1	UTSW	1	36,211,473 (GRCm38)	missense	possibly damaging	0.70
R8093:Uggt1	UTSW	1	36,227,485 (GRCm38)	missense	probably damaging	1.00
R8245:Uggt1	UTSW	1	36,165,564 (GRCm38)	missense	probably damaging	1.00
R8338:Uggt1	UTSW	1	36,227,521 (GRCm38)	missense	probably damaging	1.00
R8353:Uggt1	UTSW	1	36,170,296 (GRCm38)	critical splice acceptor site	probably null
R8442:Uggt1	UTSW	1	36,173,487 (GRCm38)	missense	probably damaging	0.99
R8519:Uggt1	UTSW	1	36,176,643 (GRCm38)	splice site	probably null
R8529:Uggt1	UTSW	1	36,184,432 (GRCm38)	missense	possibly damaging	0.85
R8730:Uggt1	UTSW	1	36,197,543 (GRCm38)	critical splice donor site	probably null
R8917:Uggt1	UTSW	1	36,146,654 (GRCm38)	missense
R8947:Uggt1	UTSW	1	36,158,148 (GRCm38)	missense	probably benign	0.12
R9240:Uggt1	UTSW	1	36,182,615 (GRCm38)	missense	possibly damaging	0.50
R9248:Uggt1	UTSW	1	36,210,022 (GRCm38)	missense	possibly damaging	0.80
R9401:Uggt1	UTSW	1	36,216,131 (GRCm38)	critical splice donor site	probably null
R9414:Uggt1	UTSW	1	36,184,426 (GRCm38)	missense	probably benign	0.01
R9416:Uggt1	UTSW	1	36,164,522 (GRCm38)	missense
R9441:Uggt1	UTSW	1	36,221,225 (GRCm38)	missense	probably benign	0.02
R9489:Uggt1	UTSW	1	36,234,805 (GRCm38)	critical splice donor site	probably null
R9563:Uggt1	UTSW	1	36,165,546 (GRCm38)	missense	possibly damaging	0.60
R9605:Uggt1	UTSW	1	36,234,805 (GRCm38)	critical splice donor site	probably null
X0022:Uggt1	UTSW	1	36,165,555 (GRCm38)	missense	possibly damaging	0.67
Z1088:Uggt1	UTSW	1	36,174,191 (GRCm38)	missense	probably damaging	1.00
Z1176:Uggt1	UTSW	1	36,161,695 (GRCm38)	missense	probably damaging	1.00
Z1177:Uggt1	UTSW	1	36,155,073 (GRCm38)	missense	probably null	1.00

Posted On

2015-12-18