Mutagenetix > Incidental Mutation

Incidental Mutation 'R7672:Ugt3a1'

592259

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R7672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 9310693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 354 (Q354*)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022861]

AlphaFold

Q3UP75

Predicted Effect

probably null
Transcript: ENSMUST00000022861
AA Change: Q354*

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: Q354*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:UDPGT	23	521	1.4e-98	PFAM
Pfam:Glyco_tran_28_C	300	451	3.7e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 128,237,019	H134R	probably damaging	Het
Adcy4	A	G	14: 55,780,905	M195T	probably benign	Het
Aktip	T	C	8: 91,129,657	N64S	possibly damaging	Het
Aldoart1	C	A	4: 72,852,510	M20I	probably benign	Het
Alms1	T	C	6: 85,615,351	L395P	probably damaging	Het
Ankrd9	C	A	12: 110,976,746	V252F	probably benign	Het
Apof	A	T	10: 128,269,016	H13L	probably benign	Het
Bahcc1	T	C	11: 120,283,346	F1644S	possibly damaging	Het
Baz2a	A	G	10: 128,123,857	D1377G	possibly damaging	Het
Bbox1	T	A	2: 110,305,449	I62F	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,888,143		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTGCTGTGGTCACTGGT	3: 95,888,175		probably benign	Het
Bcas3	C	T	11: 85,395,387	R124*	probably null	Het
Bpnt1	T	C	1: 185,346,682	V114A	probably damaging	Het
Ccnd1	C	T	7: 144,934,056	R228H	possibly damaging	Het
Cd244	T	C	1: 171,577,285	V235A	probably benign	Het
Cramp1l	C	T	17: 24,982,466	E681K	probably damaging	Het
Crebbp	C	T	16: 4,084,710	A2222T	probably benign	Het
Cyp1a2	T	A	9: 57,682,337	T65S	probably benign	Het
Cyp26b1	T	G	6: 84,584,369	K104Q	probably benign	Het
D430041D05Rik	T	C	2: 104,241,236	I556V	probably benign	Het
Dnase1l2	A	G	17: 24,442,245	L102P	probably damaging	Het
Elac1	C	T	18: 73,738,854	G357S	probably benign	Het
Enam	C	A	5: 88,503,971	T1113N	possibly damaging	Het
Eogt	A	T	6: 97,113,909	I423N	probably damaging	Het
Epc2	T	C	2: 49,545,819	S612P	possibly damaging	Het
Fam107b	T	C	2: 3,772,922	V24A	probably damaging	Het
Fam160b1	A	G	19: 57,385,318	H670R	possibly damaging	Het
Foxj3	C	T	4: 119,620,232	P413L	unknown	Het
Frg1	T	C	8: 41,417,003		probably benign	Het
Fsip2	T	A	2: 82,990,111	V5396D	possibly damaging	Het
Gm49333	C	A	16: 20,638,667	A483E	probably damaging	Het
Hdlbp	T	C	1: 93,437,099	T149A	possibly damaging	Het
Heatr1	A	T	13: 12,438,664	Q2140L	probably damaging	Het
Iqcd	T	C	5: 120,606,816	L403P	probably damaging	Het
Kif1bp	A	G	10: 62,578,073	I102T	probably benign	Het
Kpna2	T	G	11: 106,988,963	N505T	probably benign	Het
Lipo1	T	A	19: 33,780,385	E228V	probably benign	Het
Map4k3	C	T	17: 80,615,071	V474I	possibly damaging	Het
Mrpl11	T	C	19: 4,962,396	S2P	probably damaging	Het
Mug2	A	G	6: 122,040,719	I472V	probably benign	Het
Myom1	G	A	17: 71,084,240	V915M	possibly damaging	Het
Nedd9	A	T	13: 41,338,722	I104N	possibly damaging	Het
Nphp3	A	G	9: 104,031,960	M790V	probably benign	Het
Nr3c2	C	T	8: 76,909,209	P313L	probably damaging	Het
Obsl1	A	G	1: 75,492,721	V1192A	probably benign	Het
Olfr1101	T	C	2: 86,988,319	I286V	possibly damaging	Het
Olfr418	C	T	1: 173,270,873	R233W	probably benign	Het
Olfr676	A	G	7: 105,035,543	H115R	probably damaging	Het
Prr5l	T	G	2: 101,734,738	E151A	probably damaging	Het
Psmb8	G	T	17: 34,198,430	R11L	probably benign	Het
Ptprg	T	A	14: 12,211,668	H983Q	probably benign	Het
Ptprj	T	C	2: 90,460,596	N600D	possibly damaging	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Rc3h1	A	G	1: 160,950,884	S460G	probably damaging	Het
Rhot2	A	G	17: 25,843,105		probably null	Het
Sall1	T	C	8: 89,031,299	T726A	probably damaging	Het
Samd9l	G	A	6: 3,373,646	T1205I	probably benign	Het
Sh2b3	C	T	5: 121,818,759		probably null	Het
Slc22a18	G	T	7: 143,490,820	C170F	probably damaging	Het
Slc24a1	G	A	9: 64,947,927	T566I	unknown	Het
Slc4a5	T	A	6: 83,260,535	C167S	probably damaging	Het
Slc8b1	T	G	5: 120,533,035	V579G	probably damaging	Het
Snrnp200	T	C	2: 127,221,902	V667A	probably damaging	Het
Sp8	C	A	12: 118,849,335	S308R	possibly damaging	Het
Srsf9	T	A	5: 115,330,560	V85E	probably damaging	Het
Syne1	T	C	10: 5,218,527	I5285V	probably benign	Het
Tmem245	T	C	4: 56,947,069	I115V	probably benign	Het
Triqk	A	G	4: 12,980,502	D82G	probably benign	Het
Trmt11	A	T	10: 30,587,524	S198R	probably damaging	Het
Ube4b	C	T	4: 149,387,204	R75Q	probably benign	Het
Vmn1r202	A	G	13: 22,501,680	V189A	probably benign	Het
Vmn2r26	A	G	6: 124,039,647	I357V	probably benign	Het
Wdr6	T	C	9: 108,573,748	K914R	probably benign	Het
Zfat	T	C	15: 68,258,686	M1V	probably null	Het
Zfp207	A	G	11: 80,389,290	M171V	probably benign	Het
Zfp568	C	T	7: 29,997,787	T44I	probably damaging	Het

Other mutations in Ugt3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00912:Ugt3a1	APN	15	9310612	missense	probably damaging	1.00
IGL01752:Ugt3a1	APN	15	9306146	missense	probably damaging	1.00
IGL02438:Ugt3a1	APN	15	9291976	missense	possibly damaging	0.90
PIT4354001:Ugt3a1	UTSW	15	9306360	nonsense	probably null
R0127:Ugt3a1	UTSW	15	9306256	missense	probably benign	0.01
R0647:Ugt3a1	UTSW	15	9310549	missense	probably benign	0.00
R0841:Ugt3a1	UTSW	15	9306128	missense	probably benign	0.07
R1395:Ugt3a1	UTSW	15	9306292	missense	possibly damaging	0.92
R1616:Ugt3a1	UTSW	15	9306244	nonsense	probably null
R2338:Ugt3a1	UTSW	15	9291973	splice site	probably benign
R3797:Ugt3a1	UTSW	15	9310641	nonsense	probably null
R4305:Ugt3a1	UTSW	15	9306274	missense	possibly damaging	0.92
R4385:Ugt3a1	UTSW	15	9306479	missense	probably benign	0.15
R4572:Ugt3a1	UTSW	15	9306393	missense	probably benign	0.00
R4611:Ugt3a1	UTSW	15	9306400	nonsense	probably null
R4744:Ugt3a1	UTSW	15	9310553	missense	probably benign	0.36
R5715:Ugt3a1	UTSW	15	9306344	missense	probably damaging	0.96
R6036:Ugt3a1	UTSW	15	9306086	missense	probably benign	0.01
R6036:Ugt3a1	UTSW	15	9306086	missense	probably benign	0.01
R6156:Ugt3a1	UTSW	15	9310676	missense	possibly damaging	0.83
R6228:Ugt3a1	UTSW	15	9310640	missense	possibly damaging	0.81
R6344:Ugt3a1	UTSW	15	9306231	missense	probably damaging	0.98
R6380:Ugt3a1	UTSW	15	9306455	missense	probably benign	0.00
R6383:Ugt3a1	UTSW	15	9306455	missense	probably benign	0.00
R6737:Ugt3a1	UTSW	15	9311809	missense	probably benign	0.30
R6848:Ugt3a1	UTSW	15	9280052	splice site	probably null
R6937:Ugt3a1	UTSW	15	9292072	missense	probably benign	0.00
R7061:Ugt3a1	UTSW	15	9306154	missense	probably benign	0.12
R7840:Ugt3a1	UTSW	15	9311817	missense	probably damaging	1.00
R7945:Ugt3a1	UTSW	15	9284175	critical splice donor site	probably null
R8105:Ugt3a1	UTSW	15	9306390	missense	probably benign	0.00
R8414:Ugt3a1	UTSW	15	9310583	missense	possibly damaging	0.82
R8981:Ugt3a1	UTSW	15	9311928	missense	probably benign	0.20
R9111:Ugt3a1	UTSW	15	9306247	missense	possibly damaging	0.69
R9451:Ugt3a1	UTSW	15	9292072	missense	probably benign	0.00
R9567:Ugt3a1	UTSW	15	9306284	missense	possibly damaging	0.82
R9657:Ugt3a1	UTSW	15	9280047	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTCTCAGTTTGGAGACTCAGG -3'
(R):5'- GACAGTCTAGAGTGCAACCTG -3'

Sequencing Primer
(F):5'- CAGTTTGGAGACTCAGGTTTTGTCC -3'
(R):5'- AGTCTAGAGTGCAACCTGATTCC -3'

Posted On

2019-11-12