Mutagenetix > Incidental Mutations

Incidental Mutation 'R9111:Ugt3a1'

692266

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R9111 (G1)

Quality Score

101.008

Status

Not validated

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9306247 bp (GRCm38)

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

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	C	8: 123,969,907	N210S		Het
Adamts17	A	G	7: 66,839,900	D22G	probably damaging	Het
Aldh3b1	T	C	19: 3,921,797	E58G	probably damaging	Het
Atg2a	G	A	19: 6,261,504	A1830T	probably damaging	Het
Birc6	T	C	17: 74,659,345	V4118A	probably damaging	Het
Ccdc28a	G	A	10: 18,225,002	P73S	possibly damaging	Het
Cdc42bpb	A	T	12: 111,318,469	D771E	probably benign	Het
Cdk14	G	A	5: 5,265,985	P13S	possibly damaging	Het
Cdr2	G	A	7: 120,960,122	S158F	possibly damaging	Het
Cfap44	A	T	16: 44,431,963	T812S	probably benign	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Cp	A	T	3: 19,973,785	I452F	probably damaging	Het
Dcdc2c	T	A	12: 28,535,489	I2F	probably damaging	Het
Dock1	A	G	7: 134,999,288	D984G	possibly damaging	Het
Dsc2	T	C	18: 20,034,707	I710V	probably benign	Het
Eif4e	A	G	3: 138,546,361	E20G	probably benign	Het
Fbxw16	T	C	9: 109,436,611	Y380C	probably damaging	Het
Fscn3	A	G	6: 28,430,311	D160G	probably damaging	Het
Gm11361	T	A	13: 28,257,643	L3Q	probably damaging	Het
Gm9195	G	A	14: 72,456,683	Q1531*	probably null	Het
Hps3	T	C	3: 20,030,411		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Igsf1	C	T	X: 49,786,859	E755K	probably null	Het
Kalrn	A	G	16: 34,361,001	V89A	probably damaging	Het
Kcng1	C	A	2: 168,262,615	G437V	probably damaging	Het
Krt82	C	T	15: 101,543,351	R343Q	probably benign	Het
Lbr	T	C	1: 181,817,503	D528G	possibly damaging	Het
Macf1	T	C	4: 123,513,026	E256G	probably damaging	Het
Mmp9	T	A	2: 164,950,806		probably null	Het
Myrf	A	G	19: 10,214,057		probably null	Het
Ncor1	T	A	11: 62,389,759	T82S	possibly damaging	Het
Olfr1212	G	A	2: 88,958,711	V82I	probably benign	Het
P2rx6	G	T	16: 17,567,763	W176L	probably benign	Het
Pde4b	A	G	4: 102,597,460	E108G	probably damaging	Het
Pik3c2a	A	G	7: 116,394,296	V412A	probably damaging	Het
Prkd2	A	G	7: 16,850,206	E328G	probably benign	Het
Prmt1	A	C	7: 44,981,745	V114G	probably damaging	Het
Rnf133	G	A	6: 23,648,929	H334Y	probably benign	Het
Secisbp2l	A	G	2: 125,760,286	S385P	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,804,437		probably benign	Het
Sfpq	CCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGC	4: 127,021,608		probably benign	Het
Slc35e1	G	A	8: 72,492,186	P134L		Het
Slc9a3	A	G	13: 74,150,801	Y113C	probably damaging	Het
Zhx2	T	C	15: 57,822,588	I451T	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
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
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

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