Mutagenetix > Incidental Mutation

Incidental Mutation 'Z31818:Ugt1a6b'

478390

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a6b

Ensembl Gene

ENSMUSG00000090145

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A6B

Synonyms

A9'

Accession Numbers

Essential gene?

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

Stock #

Z31818 (F1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88030979-88146720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88034877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 72 (Y72H)

Ref Sequence

ENSEMBL: ENSMUSP00000108763 (fasta)

Gene Model

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

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: Y72H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145
AA Change: Y72H

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: Y72H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145
AA Change: Y72H

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: 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

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: 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: 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

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.9%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dmrtc2	C	A	7: 24,576,583 (GRCm39)	P336T	probably benign	Het
Flt3	C	T	5: 147,303,728 (GRCm39)		probably null	Het
Fndc5	G	A	4: 129,033,142 (GRCm39)	D70N	probably damaging	Het
Gan	T	A	8: 117,922,536 (GRCm39)	I423N	probably damaging	Het
Itpr3	T	G	17: 27,314,452 (GRCm39)	L634R	probably damaging	Het
Ndufb5	T	A	3: 32,800,610 (GRCm39)	M74K	probably benign	Het
Or9m1b	A	T	2: 87,836,234 (GRCm39)	L287*	probably null	Het
Osbpl6	A	G	2: 76,385,426 (GRCm39)	R287G	probably damaging	Het
Pkd1l3	A	C	8: 110,395,924 (GRCm39)	N2098T	probably damaging	Het
Proser3	G	A	7: 30,245,790 (GRCm39)	P97L	possibly damaging	Het
Rag2	G	A	2: 101,461,150 (GRCm39)	A487T	probably damaging	Het
Sorl1	A	T	9: 41,952,892 (GRCm39)	C716*	probably null	Het
Vmn2r74	T	C	7: 85,604,729 (GRCm39)		probably null	Het
Vps13a	C	T	19: 16,758,118 (GRCm39)	V6M	possibly 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
R0966:Ugt1a6b	UTSW	1	88,034,850 (GRCm39)	missense	probably benign	0.04
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

Predicted Primers

PCR Primer
(F):5'- GACACTTCCTGCAGGGTTTC -3'
(R):5'- TTGTTCTCCCTGAGGAAGCTG -3'

Sequencing Primer
(F):5'- GCAGGGTTTCTCTTCCTAGTGC -3'
(R):5'- TGGCAGAGTCCTTCAGGAG -3'

Posted On

2017-06-26