Mutagenetix > Incidental Mutation

Incidental Mutation 'R0841:Ugt3a1'

218656

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

MMRRC Submission

039020-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0841 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9306128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 121 (S121N)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably benign
Transcript: ENSMUST00000022861
AA Change: S121N

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: S121N

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

0.1809

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.1%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	T	A	4: 73,942,749	M205L	probably benign	Het
Aass	A	T	6: 23,075,811	C776S	probably benign	Het
Abi3bp	T	C	16: 56,668,276	S1257P	possibly damaging	Het
Arhgap9	T	A	10: 127,329,639	M639K	probably damaging	Het
Armc4	G	T	18: 7,268,436	P361Q	probably damaging	Het
Ctsj	C	T	13: 61,002,543	S214N	probably damaging	Het
Dnali1	T	C	4: 125,065,547	S18G	possibly damaging	Het
Eif4g3	C	T	4: 138,165,818	T959M	probably damaging	Het
Eml3	G	A	19: 8,937,685	M635I	probably benign	Het
Eml6	A	G	11: 29,777,430	F1231L	probably benign	Het
Fat4	A	C	3: 38,995,998	K4003T	probably damaging	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fgfr2	G	A	7: 130,261,905	P4S	probably benign	Het
Fgfr2	T	C	7: 130,772,007		probably benign	Het
Glp1r	T	C	17: 30,919,432	V160A	probably benign	Het
Gm9726	C	T	12: 93,928,280		noncoding transcript	Het
Gm9956	C	A	10: 56,745,328	L29M	unknown	Het
Gm9956	T	A	10: 56,745,329	L29Q	unknown	Het
Hddc3	T	A	7: 80,345,653	S139T	probably benign	Het
Hmcn1	A	T	1: 150,679,607		probably null	Het
Inpp5k	T	C	11: 75,633,459		probably benign	Het
Kcnq1	A	G	7: 143,107,452	K32E	probably benign	Het
Krtdap	A	T	7: 30,789,550		probably benign	Het
Ldb2	A	G	5: 44,532,674	L201P	probably damaging	Het
Mdn1	T	C	4: 32,752,032	V4590A	probably benign	Het
Nip7	C	A	8: 107,057,375	H82Q	probably benign	Het
Olfr685	A	T	7: 105,180,854	V168E	probably damaging	Het
Otud6b	T	A	4: 14,812,532	T272S	probably benign	Het
Plxna1	A	G	6: 89,332,204	V1131A	probably damaging	Het
Prl7a1	T	A	13: 27,642,410		probably benign	Het
Sipa1	C	A	19: 5,654,807	A587S	probably benign	Het
Slc17a6	A	T	7: 51,625,315	I41F	probably benign	Het
Slc43a2	T	A	11: 75,566,989	Y363*	probably null	Het
Smg1	A	T	7: 118,143,301	L3230Q	possibly damaging	Het
Snapc1	C	T	12: 73,975,006		probably benign	Het
Syne2	T	C	12: 76,074,435		probably benign	Het
Tap2	C	A	17: 34,215,940	D652E	possibly damaging	Het
Trp53rkb	T	C	2: 166,795,510	C129R	probably benign	Het
Ugt2a2	T	C	5: 87,474,789	T317A	probably benign	Het
Unc80	T	C	1: 66,472,088	V85A	probably damaging	Het
Vmn2r71	A	G	7: 85,618,541	T68A	possibly damaging	Het
Zfp7	G	A	15: 76,891,504	C582Y	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
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
R7672:Ugt3a1	UTSW	15	9310693	nonsense	probably null
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'- GTCAGGCTACAGAGCCTCTTTCCT -3'
(R):5'- GGCGTTTGGTAACCCAAAGTCCATA -3'

Sequencing Primer
(F):5'- tcctcctgtctccattccc -3'
(R):5'- ACCCAAAGTCCATATAGCTAAATTG -3'

Posted On

2014-08-18