Mutagenetix > Incidental Mutation

Incidental Mutation 'R0966:Ugt1a6b'

84047

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a6b

Ensembl Gene

ENSMUSG00000090145

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A6B

Synonyms

A9'

MMRRC Submission

039095-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R0966 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88030979-88146720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88034850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 63 (V63I)

Ref Sequence

ENSEMBL: ENSMUSP00000108763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000113135] [ENSMUST00000113137] [ENSMUST00000113138] [ENSMUST00000113139] [ENSMUST00000113142] [ENSMUST00000173325] [ENSMUST00000138182] [ENSMUST00000150634] [ENSMUST00000126203]

AlphaFold

K9J7B2

Predicted Effect

probably benign
Transcript: ENSMUST00000058237

SMART Domains

Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	522	1.5e-234	PFAM
Pfam:Glyco_tran_28_C	361	450	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073772

SMART Domains

Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	519	2.3e-232	PFAM
Pfam:Glyco_tran_28_C	358	447	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113135

SMART Domains

Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.2e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113137
AA Change: V63I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145
AA Change: V63I

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.3e-231	PFAM
Pfam:Glyco_tran_28_C	361	450	2.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113138
AA Change: V63I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145
AA Change: V63I

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	7.3e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	6.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113139

SMART Domains

Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	521	3.6e-237	PFAM
Pfam:Glyco_tran_28_C	360	449	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113142

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	521	7.3e-231	PFAM
Pfam:Glyco_tran_28_C	360	449	1.3e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173165

Predicted Effect

probably benign
Transcript: ENSMUST00000173325

SMART Domains

Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	61	3.4e-10	PFAM
Pfam:UDPGT	59	210	8.9e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138182

SMART Domains

Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	7e-11	PFAM
Pfam:UDPGT	58	207	1.9e-90	PFAM
Pfam:Glyco_tran_28_C	137	207	4.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150634

SMART Domains

Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	9.5e-11	PFAM
Pfam:UDPGT	58	207	2e-90	PFAM
Pfam:Glyco_tran_28_C	137	207	4.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126203

SMART Domains

Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	4.6e-11	PFAM
Pfam:UDPGT	59	127	8.9e-24	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	A	16: 88,504,310 (GRCm39)	R162S	probably damaging	Het
Arhgef10	T	G	8: 14,990,343 (GRCm39)	S272A	probably benign	Het
Cd101	A	C	3: 100,915,538 (GRCm39)	S676R	probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Flrt2	T	C	12: 95,747,075 (GRCm39)	V471A	possibly damaging	Het
Fzd8	A	T	18: 9,214,745 (GRCm39)	E609V	probably damaging	Het
Gm10110	A	C	14: 90,135,555 (GRCm39)		noncoding transcript	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Igf2bp2	C	T	16: 21,907,840 (GRCm39)	R19Q	probably damaging	Het
Mmp16	C	G	4: 18,115,930 (GRCm39)	N511K	probably benign	Het
Myo7b	T	C	18: 32,131,816 (GRCm39)	H460R	probably damaging	Het
Or52a5	T	A	7: 103,426,656 (GRCm39)	T299S	probably damaging	Het
Plekhh1	T	C	12: 79,112,504 (GRCm39)	F594L	probably damaging	Het
Prkca	T	A	11: 107,905,110 (GRCm39)	K209N	possibly damaging	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Slco1a7	A	G	6: 141,673,299 (GRCm39)	F413S	probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vps36	G	A	8: 22,696,833 (GRCm39)	W131*	probably null	Het
Wdr3	A	T	3: 100,068,385 (GRCm39)	V41E	probably damaging	Het

Other mutations in Ugt1a6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Ugt1a6b	APN	1	88,035,327 (GRCm39)	missense	possibly damaging	0.93
IGL00990:Ugt1a6b	APN	1	88,142,900 (GRCm39)	splice site	probably null
IGL02139:Ugt1a6b	APN	1	88,035,527 (GRCm39)	intron	probably benign
PIT4131001:Ugt1a6b	UTSW	1	88,146,112 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Ugt1a6b	UTSW	1	88,143,976 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Ugt1a6b	UTSW	1	88,143,880 (GRCm39)	small deletion	probably benign
R0164:Ugt1a6b	UTSW	1	88,035,189 (GRCm39)	missense	probably damaging	0.99
R1368:Ugt1a6b	UTSW	1	88,035,358 (GRCm39)	missense	probably benign	0.08
R1542:Ugt1a6b	UTSW	1	88,034,983 (GRCm39)	missense	probably benign	0.04
R3693:Ugt1a6b	UTSW	1	88,035,516 (GRCm39)	missense	probably benign
R4528:Ugt1a6b	UTSW	1	88,035,301 (GRCm39)	missense	probably damaging	0.99
R5206:Ugt1a6b	UTSW	1	88,035,170 (GRCm39)	nonsense	probably null
R5272:Ugt1a6b	UTSW	1	88,034,949 (GRCm39)	missense	possibly damaging	0.73
R5977:Ugt1a6b	UTSW	1	88,143,982 (GRCm39)	missense	probably damaging	1.00
R6640:Ugt1a6b	UTSW	1	88,035,516 (GRCm39)	missense	probably benign
R6723:Ugt1a6b	UTSW	1	88,035,439 (GRCm39)	missense	probably benign	0.15
R8795:Ugt1a6b	UTSW	1	88,034,794 (GRCm39)	missense	probably benign	0.00
R9557:Ugt1a6b	UTSW	1	88,034,820 (GRCm39)	nonsense	probably null
Z31818:Ugt1a6b	UTSW	1	88,034,877 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGAGTCAGCCACCTGCTGAATATG -3'
(R):5'- TGGGTCTGTGAACAGAGCATCAAAC -3'

Sequencing Primer
(F):5'- GCCACCTGCTGAATATGGTTAAG -3'
(R):5'- AAACTTGTTCTCCCTGAGGAAGC -3'

Posted On

2013-11-08