Mutagenetix > Incidental Mutation

Incidental Mutation 'R6380:Ugt3a1'

515283

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Ugt3a2

MMRRC Submission

044529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6380 (G1)

Quality Score

178.009

Status

Validated

Chromosome

Chromosomal Location

9335670-9370960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9306541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 230 (A230V)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably benign
Transcript: ENSMUST00000022861
AA Change: A230V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: A230V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176173

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	G	A	6: 91,900,118 (GRCm39)	G424D	probably damaging	Het
Aco1	T	C	4: 40,185,028 (GRCm39)	V566A	probably benign	Het
Adat1	G	T	8: 112,704,704 (GRCm39)	T414K	probably benign	Het
Alox12e	A	G	11: 70,211,927 (GRCm39)	V194A	probably benign	Het
Anpep	A	G	7: 79,491,644 (GRCm39)	V119A	probably benign	Het
Atat1	C	A	17: 36,219,849 (GRCm39)		probably null	Het
Atp10a	G	A	7: 58,469,432 (GRCm39)	W1094*	probably null	Het
Bcl11b	T	C	12: 107,969,360 (GRCm39)	R15G	probably benign	Het
Bltp1	A	G	3: 37,087,456 (GRCm39)	D4019G	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
Ccnd1	A	G	7: 144,493,306 (GRCm39)	V42A	probably benign	Het
Cdyl2	T	A	8: 117,309,923 (GRCm39)	K344N	probably damaging	Het
Cep68	A	G	11: 20,180,498 (GRCm39)	M711T	probably benign	Het
Cyp2j7	A	G	4: 96,118,211 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,935,357 (GRCm39)	D86E	probably damaging	Het
Dclk1	G	T	3: 55,154,615 (GRCm39)	R15L	probably damaging	Het
Dpy19l1	T	A	9: 24,393,341 (GRCm39)	K143*	probably null	Het
Duox2	A	G	2: 122,111,483 (GRCm39)	V1405A	probably benign	Het
Filip1	T	C	9: 79,726,906 (GRCm39)	E571G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Jph1	T	C	1: 17,162,071 (GRCm39)	N197S	probably damaging	Het
Kcnt2	T	C	1: 140,437,322 (GRCm39)	L535S	probably damaging	Het
Lepr	C	A	4: 101,622,151 (GRCm39)	S361*	probably null	Het
Lfng	T	A	5: 140,600,151 (GRCm39)		probably null	Het
Lpcat2	G	A	8: 93,613,209 (GRCm39)	A250T	probably benign	Het
Mab21l4	G	A	1: 93,088,613 (GRCm39)		probably null	Het
Map3k4	A	T	17: 12,490,954 (GRCm39)	M159K	possibly damaging	Het
Notch3	A	T	17: 32,363,533 (GRCm39)	C1177S	probably damaging	Het
Olfml2b	C	T	1: 170,496,800 (GRCm39)	P477L	probably benign	Het
Or51a5	A	T	7: 102,771,136 (GRCm39)	F281Y	probably benign	Het
Or5k16	T	A	16: 58,736,627 (GRCm39)	I126L	probably damaging	Het
Or6c33	A	T	10: 129,853,782 (GRCm39)	H184L	probably benign	Het
Pald1	G	T	10: 61,186,714 (GRCm39)	F146L	possibly damaging	Het
Pcdhga1	A	G	18: 37,796,022 (GRCm39)	D342G	probably damaging	Het
Plcb2	T	C	2: 118,545,949 (GRCm39)	S579G	probably damaging	Het
Prdm16	A	T	4: 154,425,824 (GRCm39)	S654T	probably benign	Het
Rab3gap2	C	A	1: 184,968,181 (GRCm39)	L178I	probably damaging	Het
Rbfox1	C	T	16: 7,042,214 (GRCm39)	Q23*	probably null	Het
Slc14a2	T	G	18: 78,190,190 (GRCm39)	T920P	probably benign	Het
Slc17a6	G	A	7: 51,317,211 (GRCm39)	V411M	probably benign	Het
Stard6	G	A	18: 70,609,459 (GRCm39)	V33I	probably benign	Het
Syce1	A	T	7: 140,358,978 (GRCm39)	H178Q	probably damaging	Het
Syne2	T	A	12: 76,151,754 (GRCm39)	F1872I	probably damaging	Het
Tor1aip1	T	C	1: 155,894,234 (GRCm39)	E274G	possibly damaging	Het
Trpm1	A	T	7: 63,918,045 (GRCm39)	T462S	probably benign	Het
Vmn1r178	A	G	7: 23,592,984 (GRCm39)	T11A	possibly damaging	Het
Vmn2r69	A	T	7: 85,061,067 (GRCm39)	N172K	probably benign	Het
Whrn	G	T	4: 63,336,829 (GRCm39)	P136T	possibly damaging	Het
Zfhx4	A	G	3: 5,478,170 (GRCm39)	N3570S	probably damaging	Het
Zfp689	A	G	7: 127,043,968 (GRCm39)	S221P	probably damaging	Het

Other mutations in Ugt3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00912:Ugt3a1	APN	15	9,310,698 (GRCm39)	missense	probably damaging	1.00
IGL01109:Ugt3a1	APN	15	9,367,354 (GRCm39)	missense	probably damaging	0.99
IGL01131:Ugt3a1	APN	15	9,365,248 (GRCm39)	missense	probably damaging	1.00
IGL01627:Ugt3a1	APN	15	9,335,806 (GRCm39)	missense	probably damaging	1.00
IGL01746:Ugt3a1	APN	15	9,361,754 (GRCm39)	missense	probably damaging	1.00
IGL01752:Ugt3a1	APN	15	9,306,232 (GRCm39)	missense	probably damaging	1.00
IGL01949:Ugt3a1	APN	15	9,335,815 (GRCm39)	missense	probably damaging	1.00
IGL02213:Ugt3a1	APN	15	9,370,310 (GRCm39)	missense	probably benign	0.00
IGL02407:Ugt3a1	APN	15	9,365,316 (GRCm39)	nonsense	probably null
IGL02438:Ugt3a1	APN	15	9,292,062 (GRCm39)	missense	possibly damaging	0.90
IGL02588:Ugt3a1	APN	15	9,361,542 (GRCm39)	missense	probably benign
IGL02894:Ugt3a1	APN	15	9,367,487 (GRCm39)	missense	probably damaging	1.00
IGL02966:Ugt3a1	APN	15	9,370,154 (GRCm39)	missense	probably damaging	1.00
IGL03385:Ugt3a1	APN	15	9,338,824 (GRCm39)	missense	probably damaging	0.99
IGL03493:Ugt3a1	APN	15	9,361,569 (GRCm39)	missense	probably damaging	0.96
PIT4354001:Ugt3a1	UTSW	15	9,306,446 (GRCm39)	nonsense	probably null
R0127:Ugt3a1	UTSW	15	9,306,342 (GRCm39)	missense	probably benign	0.01
R0554:Ugt3a1	UTSW	15	9,351,206 (GRCm39)	missense	probably benign	0.14
R0647:Ugt3a1	UTSW	15	9,310,635 (GRCm39)	missense	probably benign	0.00
R0833:Ugt3a1	UTSW	15	9,370,236 (GRCm39)	missense	probably damaging	0.96
R0841:Ugt3a1	UTSW	15	9,306,214 (GRCm39)	missense	probably benign	0.07
R1071:Ugt3a1	UTSW	15	9,367,454 (GRCm39)	missense	possibly damaging	0.82
R1395:Ugt3a1	UTSW	15	9,306,378 (GRCm39)	missense	possibly damaging	0.92
R1513:Ugt3a1	UTSW	15	9,361,610 (GRCm39)	missense	probably benign	0.07
R1616:Ugt3a1	UTSW	15	9,306,330 (GRCm39)	nonsense	probably null
R1844:Ugt3a1	UTSW	15	9,351,254 (GRCm39)	missense	probably benign	0.07
R1874:Ugt3a1	UTSW	15	9,365,437 (GRCm39)	missense	probably damaging	1.00
R2305:Ugt3a1	UTSW	15	9,351,203 (GRCm39)	missense	probably benign
R2338:Ugt3a1	UTSW	15	9,292,059 (GRCm39)	splice site	probably benign
R3052:Ugt3a1	UTSW	15	9,365,374 (GRCm39)	missense	probably damaging	1.00
R3755:Ugt3a1	UTSW	15	9,367,498 (GRCm39)	missense	probably benign	0.21
R3797:Ugt3a1	UTSW	15	9,310,727 (GRCm39)	nonsense	probably null
R3945:Ugt3a1	UTSW	15	9,370,184 (GRCm39)	missense	possibly damaging	0.91
R4135:Ugt3a1	UTSW	15	9,338,810 (GRCm39)	missense	probably damaging	0.98
R4261:Ugt3a1	UTSW	15	9,335,879 (GRCm39)	splice site	probably null
R4305:Ugt3a1	UTSW	15	9,306,360 (GRCm39)	missense	possibly damaging	0.92
R4385:Ugt3a1	UTSW	15	9,306,565 (GRCm39)	missense	probably benign	0.15
R4438:Ugt3a1	UTSW	15	9,351,283 (GRCm39)	missense	probably benign	0.01
R4570:Ugt3a1	UTSW	15	9,338,807 (GRCm39)	missense	probably benign	0.12
R4572:Ugt3a1	UTSW	15	9,306,479 (GRCm39)	missense	probably benign	0.00
R4611:Ugt3a1	UTSW	15	9,306,486 (GRCm39)	nonsense	probably null
R4744:Ugt3a1	UTSW	15	9,310,639 (GRCm39)	missense	probably benign	0.36
R4791:Ugt3a1	UTSW	15	9,361,665 (GRCm39)	missense	probably damaging	1.00
R4957:Ugt3a1	UTSW	15	9,365,274 (GRCm39)	missense	probably benign	0.27
R5011:Ugt3a1	UTSW	15	9,365,373 (GRCm39)	missense	probably damaging	1.00
R5035:Ugt3a1	UTSW	15	9,361,704 (GRCm39)	missense	probably benign	0.01
R5554:Ugt3a1	UTSW	15	9,370,287 (GRCm39)	missense	probably damaging	1.00
R5573:Ugt3a1	UTSW	15	9,361,769 (GRCm39)	missense	probably damaging	1.00
R5631:Ugt3a1	UTSW	15	9,361,971 (GRCm39)	missense	probably damaging	0.98
R5696:Ugt3a1	UTSW	15	9,361,534 (GRCm39)	splice site	silent
R5715:Ugt3a1	UTSW	15	9,306,430 (GRCm39)	missense	probably damaging	0.96
R6036:Ugt3a1	UTSW	15	9,306,172 (GRCm39)	missense	probably benign	0.01
R6036:Ugt3a1	UTSW	15	9,306,172 (GRCm39)	missense	probably benign	0.01
R6156:Ugt3a1	UTSW	15	9,310,762 (GRCm39)	missense	possibly damaging	0.83
R6228:Ugt3a1	UTSW	15	9,310,726 (GRCm39)	missense	possibly damaging	0.81
R6265:Ugt3a1	UTSW	15	9,361,665 (GRCm39)	missense	probably damaging	1.00
R6302:Ugt3a1	UTSW	15	9,365,397 (GRCm39)	missense	probably damaging	1.00
R6311:Ugt3a1	UTSW	15	9,361,604 (GRCm39)	nonsense	probably null
R6344:Ugt3a1	UTSW	15	9,306,317 (GRCm39)	missense	probably damaging	0.98
R6383:Ugt3a1	UTSW	15	9,306,541 (GRCm39)	missense	probably benign	0.00
R6680:Ugt3a1	UTSW	15	9,370,154 (GRCm39)	missense	probably damaging	1.00
R6737:Ugt3a1	UTSW	15	9,311,895 (GRCm39)	missense	probably benign	0.30
R6848:Ugt3a1	UTSW	15	9,280,138 (GRCm39)	splice site	probably null
R6937:Ugt3a1	UTSW	15	9,292,158 (GRCm39)	missense	probably benign	0.00
R7061:Ugt3a1	UTSW	15	9,306,240 (GRCm39)	missense	probably benign	0.12
R7672:Ugt3a1	UTSW	15	9,310,779 (GRCm39)	nonsense	probably null
R7840:Ugt3a1	UTSW	15	9,311,903 (GRCm39)	missense	probably damaging	1.00
R7945:Ugt3a1	UTSW	15	9,284,261 (GRCm39)	critical splice donor site	probably null
R8105:Ugt3a1	UTSW	15	9,306,476 (GRCm39)	missense	probably benign	0.00
R8229:Ugt3a1	UTSW	15	9,367,463 (GRCm39)	missense	probably damaging	0.99
R8296:Ugt3a1	UTSW	15	9,362,024 (GRCm39)	missense	probably benign	0.18
R8414:Ugt3a1	UTSW	15	9,310,669 (GRCm39)	missense	possibly damaging	0.82
R8809:Ugt3a1	UTSW	15	9,367,345 (GRCm39)	missense	possibly damaging	0.69
R8981:Ugt3a1	UTSW	15	9,312,014 (GRCm39)	missense	probably benign	0.20
R9066:Ugt3a1	UTSW	15	9,367,384 (GRCm39)	missense	possibly damaging	0.94
R9071:Ugt3a1	UTSW	15	9,370,224 (GRCm39)	nonsense	probably null
R9111:Ugt3a1	UTSW	15	9,306,333 (GRCm39)	missense	possibly damaging	0.69
R9151:Ugt3a1	UTSW	15	9,362,051 (GRCm39)	missense	probably benign	0.03
R9451:Ugt3a1	UTSW	15	9,292,158 (GRCm39)	missense	probably benign	0.00
R9522:Ugt3a1	UTSW	15	9,370,209 (GRCm39)	missense	probably damaging	1.00
R9567:Ugt3a1	UTSW	15	9,306,370 (GRCm39)	missense	possibly damaging	0.82
R9609:Ugt3a1	UTSW	15	9,361,905 (GRCm39)	missense	probably damaging	1.00
R9657:Ugt3a1	UTSW	15	9,280,133 (GRCm39)	missense	probably damaging	0.98
Z1177:Ugt3a1	UTSW	15	9,367,343 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAGCTTGGGAAACGATTTGTG -3'
(R):5'- TGAGAGCTAATGTGTCACTTACTTG -3'

Sequencing Primer
(F):5'- AGCTATATGGACTTTGGGTTACC -3'
(R):5'- CACTTACTTGGGGTATTGGCTGAAC -3'

Posted On

2018-05-04