Mutagenetix > Incidental Mutation

Incidental Mutation 'R9111:Ugt3a1'

692266

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Ugt3a2

MMRRC Submission

068971-MU

Accession Numbers

Essential gene?

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

Stock #

R9111 (G1)

Quality Score

101.008

Status

Validated

Chromosome

Chromosomal Location

9335670-9370960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9306333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 161 (F161L)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022861
AA Change: F161L

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: F161L

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: 99.8%
20x: 99.5%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	C	8: 124,696,646 (GRCm39)	N210S		Het
Adamts17	A	G	7: 66,489,648 (GRCm39)	D22G	probably damaging	Het
Aldh3b1	T	C	19: 3,971,797 (GRCm39)	E58G	probably damaging	Het
Atg2a	G	A	19: 6,311,534 (GRCm39)	A1830T	probably damaging	Het
Birc6	T	C	17: 74,966,340 (GRCm39)	V4118A	probably damaging	Het
Ccdc28a	G	A	10: 18,100,750 (GRCm39)	P73S	possibly damaging	Het
Cdc42bpb	A	T	12: 111,284,903 (GRCm39)	D771E	probably benign	Het
Cdk14	G	A	5: 5,315,985 (GRCm39)	P13S	possibly damaging	Het
Cdr2	G	A	7: 120,559,345 (GRCm39)	S158F	possibly damaging	Het
Cfap44	A	T	16: 44,252,326 (GRCm39)	T812S	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cp	A	T	3: 20,027,949 (GRCm39)	I452F	probably damaging	Het
Dcdc2c	T	A	12: 28,585,488 (GRCm39)	I2F	probably damaging	Het
Dlat	G	A	9: 50,570,906 (GRCm39)		probably benign	Het
Dock1	A	G	7: 134,601,017 (GRCm39)	D984G	possibly damaging	Het
Dsc2	T	C	18: 20,167,764 (GRCm39)	I710V	probably benign	Het
Eif4e	A	G	3: 138,252,122 (GRCm39)	E20G	probably benign	Het
Fbxw16	T	C	9: 109,265,679 (GRCm39)	Y380C	probably damaging	Het
Fscn3	A	G	6: 28,430,310 (GRCm39)	D160G	probably damaging	Het
Gm9195	G	A	14: 72,694,123 (GRCm39)	Q1531*	probably null	Het
Hps3	T	C	3: 20,084,575 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igsf1	C	T	X: 48,875,736 (GRCm39)	E755K	probably null	Het
Kalrn	A	G	16: 34,181,371 (GRCm39)	V89A	probably damaging	Het
Kcng1	C	A	2: 168,104,535 (GRCm39)	G437V	probably damaging	Het
Krt82	C	T	15: 101,451,786 (GRCm39)	R343Q	probably benign	Het
Lbr	T	C	1: 181,645,068 (GRCm39)	D528G	possibly damaging	Het
Macf1	T	C	4: 123,406,819 (GRCm39)	E256G	probably damaging	Het
Mier2	T	C	10: 79,381,285 (GRCm39)		probably benign	Het
Mmp9	T	A	2: 164,792,726 (GRCm39)		probably null	Het
Myrf	A	G	19: 10,191,421 (GRCm39)		probably null	Het
Ncor1	T	A	11: 62,280,585 (GRCm39)	T82S	possibly damaging	Het
Or4c107	G	A	2: 88,789,055 (GRCm39)	V82I	probably benign	Het
P2rx6	G	T	16: 17,385,627 (GRCm39)	W176L	probably benign	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pik3c2a	A	G	7: 115,993,531 (GRCm39)	V412A	probably damaging	Het
Prkd2	A	G	7: 16,584,131 (GRCm39)	E328G	probably benign	Het
Prmt1	A	C	7: 44,631,169 (GRCm39)	V114G	probably damaging	Het
Rnf133	G	A	6: 23,648,928 (GRCm39)	H334Y	probably benign	Het
Rps18-ps5	T	A	13: 28,441,626 (GRCm39)	L3Q	probably damaging	Het
Secisbp2l	A	G	2: 125,602,206 (GRCm39)	S385P	probably benign	Het
Sel1l3	A	T	5: 53,279,213 (GRCm39)		probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Sfpq	CCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGC	4: 126,915,401 (GRCm39)		probably benign	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Slc5a4b	A	T	10: 75,925,827 (GRCm39)		probably benign	Het
Slc9a3	A	G	13: 74,298,920 (GRCm39)	Y113C	probably damaging	Het
Zhx2	T	C	15: 57,685,984 (GRCm39)	I451T	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
R6380:Ugt3a1	UTSW	15	9,306,541 (GRCm39)	missense	probably benign	0.00
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
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'- GCATAACATCATTCCAAATAGTGTG -3'
(R):5'- CGCAAAATGCTCCTGGACAG -3'

Sequencing Primer
(F):5'- TTATTGCAGGTCCAAATATCACACC -3'
(R):5'- CGCAAAATGCTCCTGGACAGTATTG -3'

Posted On

2021-12-30