Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Ugt1a6b'

65768

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a6b

Ensembl Gene

ENSMUSG00000090145

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A6B

Synonyms

A9'

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.334) question?

Stock #

R0164 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

88103252-88219003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88107467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 176 (C176S)

Ref Sequence

ENSEMBL: ENSMUSP00000108763 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000113137
AA Change: C176S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145
AA Change: C176S

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 damaging
Transcript: ENSMUST00000113138
AA Change: C176S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145
AA Change: C176S

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

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: 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

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

Meta Mutation Damage Score

0.3854

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (85/87)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,794,578		probably null	Het
4930522L14Rik	T	C	5: 109,736,847	K382E	probably damaging	Het
Adck1	A	G	12: 88,455,510	E297G	probably damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Aldh3a2	C	T	11: 61,248,888	V473I	probably benign	Het
Arfgef3	A	T	10: 18,647,915	I369K	possibly damaging	Het
Atl2	A	G	17: 79,853,831		probably benign	Het
Atp1b3	T	C	9: 96,338,709	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,378,386	E520G	possibly damaging	Het
Bahcc1	A	T	11: 120,285,074		probably benign	Het
BB019430	A	T	10: 58,704,271		noncoding transcript	Het
BC028528	A	T	3: 95,887,334		probably benign	Het
Btbd1	T	A	7: 81,801,003	Q343L	probably benign	Het
Catsper1	A	G	19: 5,339,475	T473A	possibly damaging	Het
Chmp6	G	A	11: 119,915,523		probably null	Het
D130040H23Rik	T	C	8: 69,302,543	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,364,331		noncoding transcript	Het
Dcaf1	T	A	9: 106,844,145	S379T	possibly damaging	Het
Dcaf4	G	A	12: 83,535,988		probably benign	Het
Dhx58	T	C	11: 100,695,324	I624V	probably benign	Het
Disp3	T	C	4: 148,254,251	E821G	probably damaging	Het
Dlc1	T	A	8: 36,599,440	E464V	probably damaging	Het
Dnah10	G	A	5: 124,783,834	V2151I	probably damaging	Het
Dnah6	C	T	6: 73,188,535		probably benign	Het
Dnah8	G	A	17: 30,748,665	G2617D	probably benign	Het
Dnah9	C	A	11: 65,918,804	E872*	probably null	Het
Dock9	T	C	14: 121,597,665	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,716,646	I310F	probably damaging	Het
Fggy	A	T	4: 95,837,654	I137F	probably damaging	Het
Gli2	A	G	1: 118,890,283		probably benign	Het
Gm14421	A	T	2: 177,056,722		noncoding transcript	Het
Gm5689	T	A	18: 42,173,543	D58E	probably damaging	Het
Grin2a	A	G	16: 9,994,821		probably null	Het
Grin2b	A	G	6: 135,778,648		probably benign	Het
Incenp	A	G	19: 9,894,879	S72P	probably benign	Het
Ipo11	A	G	13: 106,910,194		probably benign	Het
Klc3	T	A	7: 19,394,926	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,247,505	S88P	probably benign	Het
Lrrc49	G	A	9: 60,680,600	T93I	probably benign	Het
Ltn1	G	A	16: 87,405,519		probably benign	Het
Mlycd	A	T	8: 119,407,641	Q294L	probably damaging	Het
Mmrn1	T	A	6: 60,975,815		probably benign	Het
Mrpl22	T	A	11: 58,171,821	I19N	probably benign	Het
Msh3	T	A	13: 92,349,209	K202N	probably damaging	Het
N4bp2	T	C	5: 65,803,573		probably benign	Het
Ncam1	C	T	9: 49,568,409	D90N	probably damaging	Het
Nckap5	A	T	1: 126,024,407	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,186,731		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nlrp1b	A	T	11: 71,164,099	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,469,150	N168K	possibly damaging	Het
Olfr1446	A	G	19: 12,890,445	L44P	probably damaging	Het
Ost4	T	C	5: 30,907,459	H26R	probably damaging	Het
Otog	G	A	7: 46,304,231	V2638M	probably damaging	Het
Otogl	A	T	10: 107,874,530	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,470,186	S282P	probably damaging	Het
Prkcg	G	A	7: 3,329,119	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,887,089		probably null	Het
Rnf157	A	G	11: 116,354,810		probably benign	Het
Scmh1	T	C	4: 120,529,865		probably benign	Het
Sgo2b	T	C	8: 63,938,383	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,829,037	T5P	probably damaging	Het
Skint6	A	T	4: 112,991,236		probably benign	Het
Slfn10-ps	T	C	11: 83,035,302		noncoding transcript	Het
Sspo	T	A	6: 48,494,194		probably benign	Het
Tcp1	T	A	17: 12,922,747		probably benign	Het
Tdp2	A	G	13: 24,838,239	M214V	probably damaging	Het
Tenm4	T	G	7: 96,729,340		probably benign	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Tmem204	A	G	17: 25,058,350	I187T	probably damaging	Het
Tmem208	T	G	8: 105,334,694	D117E	probably benign	Het
Tnks1bp1	C	T	2: 85,059,221	P631S	possibly damaging	Het
Tomm70a	T	C	16: 57,147,821	V517A	probably damaging	Het
Ttc7	T	C	17: 87,379,895	V801A	probably damaging	Het
Txndc5	A	T	13: 38,507,953	C146S	probably damaging	Het
Ubac2	A	G	14: 122,008,917		probably benign	Het
Ube4b	G	T	4: 149,360,324	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008	Y504N	probably benign	Het
Ugt1a6a	T	C	1: 88,139,270	V266A	possibly damaging	Het
Ulk3	T	A	9: 57,590,686	I90N	probably damaging	Het
Unc13c	T	C	9: 73,694,892	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vmn2r114	A	G	17: 23,309,826		probably null	Het
Vmn2r91	A	C	17: 18,106,137	N228T	probably benign	Het
Wdr43	T	G	17: 71,631,997		probably benign	Het
Wisp1	T	C	15: 66,919,210	L287P	probably damaging	Het
Zbtb6	G	T	2: 37,429,588	Y109*	probably null	Het
Zfp980	A	G	4: 145,701,997	D432G	probably benign	Het

Other mutations in Ugt1a6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Ugt1a6b	APN	1	88107605	missense	possibly damaging	0.93
IGL00990:Ugt1a6b	APN	1	88215178	splice site	probably null
IGL02139:Ugt1a6b	APN	1	88107805	intron	probably benign
PIT4131001:Ugt1a6b	UTSW	1	88216158	small deletion	probably benign
PIT4131001:Ugt1a6b	UTSW	1	88216254	missense	probably damaging	1.00
PIT4131001:Ugt1a6b	UTSW	1	88218390	missense	probably damaging	1.00
R0966:Ugt1a6b	UTSW	1	88107128	missense	probably benign	0.04
R1368:Ugt1a6b	UTSW	1	88107636	missense	probably benign	0.08
R1542:Ugt1a6b	UTSW	1	88107261	missense	probably benign	0.04
R3693:Ugt1a6b	UTSW	1	88107794	missense	probably benign
R4528:Ugt1a6b	UTSW	1	88107579	missense	probably damaging	0.99
R5206:Ugt1a6b	UTSW	1	88107448	nonsense	probably null
R5272:Ugt1a6b	UTSW	1	88107227	missense	possibly damaging	0.73
R5977:Ugt1a6b	UTSW	1	88216260	missense	probably damaging	1.00
R6640:Ugt1a6b	UTSW	1	88107794	missense	probably benign
R6723:Ugt1a6b	UTSW	1	88107717	missense	probably benign	0.15
R8795:Ugt1a6b	UTSW	1	88107072	missense	probably benign	0.00
R9557:Ugt1a6b	UTSW	1	88107098	nonsense	probably null
Z31818:Ugt1a6b	UTSW	1	88107155	missense	probably benign	0.01

Predicted Primers

Posted On

2013-08-19