Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:Ugt3a1'

342223

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

MMRRC Submission

041796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R4572 (G1)

Quality Score

129

Status

Validated

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9306393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 209 (H209Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably benign
Transcript: ENSMUST00000022861
AA Change: H209Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: H209Q

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548 (GRCm38)	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256 (GRCm38)	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181 (GRCm38)		probably benign	Het
Alpk2	A	T	18: 65,281,004 (GRCm38)	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340 (GRCm38)		probably null	Het
Apobec1	T	C	6: 122,581,397 (GRCm38)	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141 (GRCm38)	I181N	probably damaging	Het
C130060K24Rik	A	T	6: 65,454,991 (GRCm38)	M293L	probably benign	Het
Cilp2	A	G	8: 69,882,410 (GRCm38)	V646A	probably damaging	Het
Clasrp	A	G	7: 19,584,464 (GRCm38)		probably null	Het
Cnot2	T	C	10: 116,494,846 (GRCm38)	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806 (GRCm38)	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551 (GRCm38)	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421 (GRCm38)	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125 (GRCm38)	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947 (GRCm38)	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726 (GRCm38)	R1326S	probably benign	Het
Epha10	A	G	4: 124,902,568 (GRCm38)	T357A	unknown	Het
Ephb2	A	C	4: 136,655,940 (GRCm38)	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635 (GRCm38)		probably null	Het
Gabrb2	A	G	11: 42,593,917 (GRCm38)	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,461,638 (GRCm38)	Y452F	probably benign	Het
Gen1	A	G	12: 11,242,418 (GRCm38)	S457P	probably damaging	Het
Gm1993	C	T	X: 25,560,356 (GRCm38)	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159 (GRCm38)		probably benign	Het
Hmbox1	A	G	14: 64,903,233 (GRCm38)		probably null	Het
Hus1	A	T	11: 9,007,617 (GRCm38)		probably null	Het
Ino80	G	A	2: 119,402,358 (GRCm38)	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042 (GRCm38)	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384 (GRCm38)	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915 (GRCm38)		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750 (GRCm38)		probably benign	Het
Mrgpre	G	A	7: 143,781,104 (GRCm38)	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399 (GRCm38)	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217 (GRCm38)		probably null	Het
Ncapd3	A	G	9: 27,094,615 (GRCm38)	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681 (GRCm38)		probably null	Het
Npy6r	A	T	18: 44,275,917 (GRCm38)	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979 (GRCm38)	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824 (GRCm38)	R825Q	probably damaging	Het
Pigg	A	G	5: 108,332,885 (GRCm38)	M379V	probably benign	Het
Plppr3	T	A	10: 79,866,063 (GRCm38)	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,955,756 (GRCm38)	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133 (GRCm38)	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060 (GRCm38)	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733 (GRCm38)	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062 (GRCm38)	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708 (GRCm38)		probably benign	Het
Sesn3	G	A	9: 14,321,220 (GRCm38)	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463 (GRCm38)	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996 (GRCm38)	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,534,934 (GRCm38)	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,838,144 (GRCm38)	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017 (GRCm38)	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309 (GRCm38)	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461 (GRCm38)		probably null	Het
Trappc9	G	T	15: 72,937,067 (GRCm38)	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188 (GRCm38)	C460*	probably null	Het
Trim35	T	C	14: 66,307,873 (GRCm38)	Y298H	probably damaging	Het
Ulk4	T	C	9: 121,192,764 (GRCm38)	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911 (GRCm38)	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,732,155 (GRCm38)	R141C	probably damaging	Het
Zfp735	A	G	11: 73,689,785 (GRCm38)	M37V	probably benign	Het
Zmym1	A	T	4: 127,050,835 (GRCm38)	N186K	probably benign	Het

Other mutations in Ugt3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00912:Ugt3a1	APN	15	9,310,612 (GRCm38)	missense	probably damaging	1.00
IGL01752:Ugt3a1	APN	15	9,306,146 (GRCm38)	missense	probably damaging	1.00
IGL02438:Ugt3a1	APN	15	9,291,976 (GRCm38)	missense	possibly damaging	0.90
PIT4354001:Ugt3a1	UTSW	15	9,306,360 (GRCm38)	nonsense	probably null
R0127:Ugt3a1	UTSW	15	9,306,256 (GRCm38)	missense	probably benign	0.01
R0647:Ugt3a1	UTSW	15	9,310,549 (GRCm38)	missense	probably benign	0.00
R0841:Ugt3a1	UTSW	15	9,306,128 (GRCm38)	missense	probably benign	0.07
R1395:Ugt3a1	UTSW	15	9,306,292 (GRCm38)	missense	possibly damaging	0.92
R1616:Ugt3a1	UTSW	15	9,306,244 (GRCm38)	nonsense	probably null
R2338:Ugt3a1	UTSW	15	9,291,973 (GRCm38)	splice site	probably benign
R3797:Ugt3a1	UTSW	15	9,310,641 (GRCm38)	nonsense	probably null
R4305:Ugt3a1	UTSW	15	9,306,274 (GRCm38)	missense	possibly damaging	0.92
R4385:Ugt3a1	UTSW	15	9,306,479 (GRCm38)	missense	probably benign	0.15
R4611:Ugt3a1	UTSW	15	9,306,400 (GRCm38)	nonsense	probably null
R4744:Ugt3a1	UTSW	15	9,310,553 (GRCm38)	missense	probably benign	0.36
R5715:Ugt3a1	UTSW	15	9,306,344 (GRCm38)	missense	probably damaging	0.96
R6036:Ugt3a1	UTSW	15	9,306,086 (GRCm38)	missense	probably benign	0.01
R6036:Ugt3a1	UTSW	15	9,306,086 (GRCm38)	missense	probably benign	0.01
R6156:Ugt3a1	UTSW	15	9,310,676 (GRCm38)	missense	possibly damaging	0.83
R6228:Ugt3a1	UTSW	15	9,310,640 (GRCm38)	missense	possibly damaging	0.81
R6344:Ugt3a1	UTSW	15	9,306,231 (GRCm38)	missense	probably damaging	0.98
R6380:Ugt3a1	UTSW	15	9,306,455 (GRCm38)	missense	probably benign	0.00
R6383:Ugt3a1	UTSW	15	9,306,455 (GRCm38)	missense	probably benign	0.00
R6737:Ugt3a1	UTSW	15	9,311,809 (GRCm38)	missense	probably benign	0.30
R6848:Ugt3a1	UTSW	15	9,280,052 (GRCm38)	splice site	probably null
R6937:Ugt3a1	UTSW	15	9,292,072 (GRCm38)	missense	probably benign	0.00
R7061:Ugt3a1	UTSW	15	9,306,154 (GRCm38)	missense	probably benign	0.12
R7672:Ugt3a1	UTSW	15	9,310,693 (GRCm38)	nonsense	probably null
R7840:Ugt3a1	UTSW	15	9,311,817 (GRCm38)	missense	probably damaging	1.00
R7945:Ugt3a1	UTSW	15	9,284,175 (GRCm38)	critical splice donor site	probably null
R8105:Ugt3a1	UTSW	15	9,306,390 (GRCm38)	missense	probably benign	0.00
R8414:Ugt3a1	UTSW	15	9,310,583 (GRCm38)	missense	possibly damaging	0.82
R8981:Ugt3a1	UTSW	15	9,311,928 (GRCm38)	missense	probably benign	0.20
R9111:Ugt3a1	UTSW	15	9,306,247 (GRCm38)	missense	possibly damaging	0.69
R9451:Ugt3a1	UTSW	15	9,292,072 (GRCm38)	missense	probably benign	0.00
R9567:Ugt3a1	UTSW	15	9,306,284 (GRCm38)	missense	possibly damaging	0.82
R9657:Ugt3a1	UTSW	15	9,280,047 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGTTGAAAAGCTTGGGAAACG -3'
(R):5'- GAGCTAATGTGTCACTTACTTGG -3'

Sequencing Primer
(F):5'- AAAGCTTGGGAAACGATTTGTGTC -3'
(R):5'- GCTGAACAGGTTTGTCCAGTAAAC -3'

Posted On

2015-09-24