Mutagenetix > Incidental Mutation

Incidental Mutation 'R4385:Ugt3a1'

326186

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

MMRRC Submission

041124-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R4385 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9306479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 238 (S238F)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably benign
Transcript: ENSMUST00000022861
AA Change: S238F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: S238F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,326,208	S251P	possibly damaging	Het
A530032D15Rik	C	T	1: 85,109,336		probably null	Het
Abcc3	A	T	11: 94,368,239	I426N	probably damaging	Het
Abcc6	C	T	7: 45,995,328	V808I	possibly damaging	Het
Adam23	T	C	1: 63,566,628	Y624H	probably damaging	Het
Apbb1	A	G	7: 105,567,276	S140P	probably benign	Het
Arhgef10	T	A	8: 14,930,157	C132*	probably null	Het
Boc	A	T	16: 44,491,182	L726H	probably damaging	Het
Calr3	T	A	8: 72,428,164	D120V	probably damaging	Het
Cdc27	T	C	11: 104,534,814	R59G	probably benign	Het
Cfap43	T	C	19: 47,797,129	R441G	probably benign	Het
Chsy3	A	G	18: 59,176,352	I226V	probably benign	Het
Chsy3	A	T	18: 59,179,474	T340S	possibly damaging	Het
Cnot10	T	A	9: 114,631,881	K74*	probably null	Het
Col5a1	A	C	2: 28,024,779	M136L	probably damaging	Het
Coro2a	A	T	4: 46,541,961	I387N	possibly damaging	Het
Csnk1g1	T	C	9: 66,019,908	V119A	probably damaging	Het
Cyfip2	C	T	11: 46,242,403	M823I	probably benign	Het
Dcbld2	A	G	16: 58,463,066	K555E	probably damaging	Het
Dpep3	A	G	8: 105,978,186	M164T	probably damaging	Het
Flg	C	A	3: 93,293,009		probably benign	Het
Gm13089	C	T	4: 143,698,014		probably null	Het
Hecw1	C	T	13: 14,316,164	D748N	probably damaging	Het
Ift172	T	C	5: 31,286,967	D37G	probably damaging	Het
Iglc1	A	T	16: 19,061,758	C104*	probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Klk1	A	T	7: 44,228,569	D83V	probably benign	Het
Klk9	T	C	7: 43,794,275	V71A	probably benign	Het
Loxhd1	A	G	18: 77,372,911	K806R	probably damaging	Het
Metap1	T	C	3: 138,475,063	E119G	possibly damaging	Het
Nbea	T	C	3: 56,000,638	H1351R	possibly damaging	Het
Nim1k	T	C	13: 119,712,626	D244G	probably damaging	Het
Npas1	C	T	7: 16,459,185		probably null	Het
Pcdh15	A	G	10: 74,550,490	D1136G	probably damaging	Het
Pde6b	A	G	5: 108,427,642	I657V	probably benign	Het
Pi4ka	A	G	16: 17,386,265	V55A	probably benign	Het
Plxnb2	T	C	15: 89,160,623	N1173S	probably damaging	Het
Ptpn13	T	C	5: 103,533,407		probably null	Het
Ptprb	A	G	10: 116,346,867	S1483G	probably benign	Het
Rbm48	G	A	5: 3,590,300	P360S	probably damaging	Het
Rbp3	G	C	14: 33,955,296	E400D	probably benign	Het
Rfpl4	A	G	7: 5,110,670	S165P	possibly damaging	Het
Scn9a	A	T	2: 66,484,556	L1595Q	probably damaging	Het
Scp2	A	T	4: 108,071,350	V381D	probably damaging	Het
Sec24c	G	A	14: 20,690,773	V620M	probably damaging	Het
Slc30a9	T	C	5: 67,315,767	Y65H	probably damaging	Het
Sorcs1	A	G	19: 50,190,161	I841T	probably benign	Het
Spag7	C	T	11: 70,669,203	A27T	probably damaging	Het
St6galnac6	A	G	2: 32,615,024	I181V	possibly damaging	Het
Tm9sf3	T	C	19: 41,247,933	M130V	probably damaging	Het
Usp9y	G	A	Y: 1,304,756	L2363F	probably damaging	Het
Vmn1r34	T	A	6: 66,637,139	H205L	probably damaging	Het
Vps50	C	A	6: 3,516,694	Q59K	probably benign	Het
Zeb2	T	A	2: 45,023,062	D39V	probably damaging	Het
Zfp146	G	A	7: 30,162,422	T65I	probably benign	Het
Zfp36	T	C	7: 28,377,691	D264G	probably benign	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
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'- AGCTTGGGAAACGATTTGTGTC -3'
(R):5'- ACCTGCGTACTGAAGGTCTATG -3'

Sequencing Primer
(F):5'- AAACGCCCCCTTGTCATATG -3'
(R):5'- GACTGTGTTGGGAAACAG -3'

Posted On

2015-07-06