Mutagenetix > Incidental Mutations

Incidental Mutation 'R1974:Ugt2b36'

221383

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b36

Ensembl Gene

ENSMUSG00000070704

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B36

Synonyms

MMRRC Submission

039987-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87065927-87092555 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 87080868 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094649] [ENSMUST00000094649] [ENSMUST00000132667] [ENSMUST00000145617] [ENSMUST00000145617] [ENSMUST00000145617] [ENSMUST00000145617]

Predicted Effect

probably null
Transcript: ENSMUST00000094649

SMART Domains

Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	527	6.9e-260	PFAM
Pfam:Glyco_tran_28_C	339	448	2e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000094649

SMART Domains

Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	527	6.9e-260	PFAM
Pfam:Glyco_tran_28_C	339	448	2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132667

SMART Domains

Protein: ENSMUSP00000123024
Gene: ENSMUSG00000070704

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	105	1.1e-23	PFAM
Pfam:UDPGT	99	265	7.4e-95	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145617

SMART Domains

Protein: ENSMUSP00000120005
Gene: ENSMUSG00000070704

Domain	Start	End	E-Value	Type
Pfam:UDPGT	22	249	2.1e-127	PFAM
Pfam:Glyco_tran_28_C	164	245	1.7e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145617

SMART Domains

Protein: ENSMUSP00000120005
Gene: ENSMUSG00000070704

Domain	Start	End	E-Value	Type
Pfam:UDPGT	22	249	2.1e-127	PFAM
Pfam:Glyco_tran_28_C	164	245	1.7e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145617

SMART Domains

Protein: ENSMUSP00000120005
Gene: ENSMUSG00000070704

Domain	Start	End	E-Value	Type
Pfam:UDPGT	22	249	2.1e-127	PFAM
Pfam:Glyco_tran_28_C	164	245	1.7e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145617

SMART Domains

Protein: ENSMUSP00000120005
Gene: ENSMUSG00000070704

Domain	Start	End	E-Value	Type
Pfam:UDPGT	22	249	2.1e-127	PFAM
Pfam:Glyco_tran_28_C	164	245	1.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154455

SMART Domains

Protein: ENSMUSP00000120633
Gene: ENSMUSG00000070704

Domain	Start	End	E-Value	Type
Pfam:UDPGT	1	198	1.2e-117	PFAM
Pfam:Glyco_tran_28_C	109	194	1.7e-9	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,067,267	L739Q	probably damaging	Het
4933436I01Rik	A	T	X: 67,920,049	Y401*	probably null	Het
Abcg3	A	G	5: 104,963,638	V321A	probably benign	Het
Acad10	C	A	5: 121,626,185	V894L	possibly damaging	Het
Adam9	A	G	8: 24,992,224	I255T	probably damaging	Het
AF529169	T	G	9: 89,601,203	T714P	probably damaging	Het
Ago3	T	C	4: 126,346,751	Y785C	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Akap4	A	G	X: 7,077,356	S633G	probably benign	Het
Alox15	T	A	11: 70,349,973	T194S	probably benign	Het
Amh	T	C	10: 80,806,416	S207P	probably benign	Het
Apc	T	A	18: 34,300,004	C415S	possibly damaging	Het
Atg14	G	A	14: 47,545,841	R346C	probably damaging	Het
Atp5j2	A	T	5: 145,184,579	L64Q	probably damaging	Het
Barhl2	C	G	5: 106,457,313	E177Q	probably benign	Het
C1qtnf5	T	C	9: 44,108,775	V232A	probably damaging	Het
Calr	T	C	8: 84,844,157	I290V	probably benign	Het
Cdh19	G	C	1: 110,890,159	Q618E	possibly damaging	Het
Celsr2	G	T	3: 108,414,214	D427E	probably damaging	Het
Cep250	T	C	2: 155,989,504	S1294P	probably damaging	Het
Chrna7	T	A	7: 63,099,286	T483S	probably damaging	Het
Clmn	A	T	12: 104,791,862	W132R	probably damaging	Het
Cpsf2	G	A	12: 101,990,047	D370N	probably benign	Het
Crnn	T	C	3: 93,149,287	V460A	probably benign	Het
Daam1	T	A	12: 71,988,929	I957N	probably damaging	Het
Defb9	T	C	8: 21,881,889	K36R	probably benign	Het
Dock10	T	A	1: 80,510,426	I2007F	possibly damaging	Het
Dpm1	A	T	2: 168,217,747	V143D	probably damaging	Het
Dync1h1	T	C	12: 110,625,732	V1110A	possibly damaging	Het
Erlec1	T	G	11: 30,939,604	K373N	possibly damaging	Het
Fam160b1	T	C	19: 57,385,377	F690L	probably damaging	Het
Fbxo40	C	T	16: 36,969,941	G269E	probably benign	Het
Fbxw7	T	A	3: 84,954,935	C70S	possibly damaging	Het
Fnbp1	G	T	2: 31,053,047	R280S	probably null	Het
Gapvd1	G	A	2: 34,700,841	R940C	probably damaging	Het
Gfod2	T	C	8: 105,717,510	K134E	possibly damaging	Het
Gm13757	A	T	2: 88,446,509	I143N	probably damaging	Het
Gpi1	A	T	7: 34,220,803		probably null	Het
Grik2	A	T	10: 49,132,827	N721K	possibly damaging	Het
Gsn	G	T	2: 35,301,471	G455V	probably damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Hpse	A	G	5: 100,692,238	S338P	probably damaging	Het
Hyal2	T	C	9: 107,572,172	C376R	probably damaging	Het
Inf2	A	G	12: 112,608,337	T781A	unknown	Het
Iscu	A	G	5: 113,777,018		probably benign	Het
Kcna4	G	A	2: 107,296,220	G433D	possibly damaging	Het
Kir3dl2	T	A	X: 136,456,275	N146I	probably benign	Het
Klrg1	T	A	6: 122,282,762	Q17L	possibly damaging	Het
Krt82	T	G	15: 101,545,162	Q263P	probably benign	Het
Mfrp	T	C	9: 44,106,372	C554R	probably damaging	Het
Mst1r	T	C	9: 107,914,763	Y833H	probably damaging	Het
Mst1r	T	A	9: 107,915,933		probably null	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nipal4	T	C	11: 46,151,383	N157S	probably damaging	Het
Notch2	G	A	3: 98,072,755	G195D	probably damaging	Het
Nrcam	A	T	12: 44,563,993	H492L	probably benign	Het
Olfr433	A	T	1: 174,042,588	I213F	probably damaging	Het
Papln	G	A	12: 83,782,037	R817H	probably damaging	Het
Pcnx2	T	C	8: 125,887,371	E447G	probably benign	Het
Pdp2	T	C	8: 104,593,906	V129A	probably benign	Het
Plch2	A	G	4: 154,984,953	F1072S	possibly damaging	Het
Prag1	T	A	8: 36,102,927	D221E	probably damaging	Het
Prkg1	T	C	19: 31,585,695	D102G	probably damaging	Het
Psme4	T	A	11: 30,819,011	D662E	probably benign	Het
Ptprn	T	C	1: 75,254,820		probably null	Het
Ptprz1	A	G	6: 22,986,311	D370G	probably damaging	Het
Qser1	A	G	2: 104,760,541	S1637P	probably damaging	Het
Sema6a	T	A	18: 47,270,629	H642L	probably benign	Het
Slc30a5	A	T	13: 100,813,953	F209I	probably benign	Het
Slc4a3	G	T	1: 75,552,191	E508*	probably null	Het
Stpg2	C	T	3: 139,309,183	R370*	probably null	Het
Tas2r113	T	A	6: 132,893,833	F275I	probably benign	Het
Tmem132d	T	G	5: 128,269,199	K86N	probably damaging	Het
Tpgs2	A	T	18: 25,140,536	F189L	probably damaging	Het
Trmt6	A	G	2: 132,811,048	S104P	probably damaging	Het
Trpv3	T	C	11: 73,283,688	S294P	probably damaging	Het
Vmn1r170	A	T	7: 23,606,481	M103L	probably benign	Het
Vmn2r107	T	A	17: 20,355,617		probably null	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Vmn2r77	T	C	7: 86,800,756	V70A	probably benign	Het

Other mutations in Ugt2b36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Ugt2b36	APN	5	87081581	missense	possibly damaging	0.73
IGL01024:Ugt2b36	APN	5	87080869	critical splice donor site	probably null
IGL01295:Ugt2b36	APN	5	87080885	missense	probably damaging	1.00
IGL01331:Ugt2b36	APN	5	87090942	missense	probably damaging	1.00
IGL02597:Ugt2b36	APN	5	87080924	missense	probably damaging	1.00
IGL02967:Ugt2b36	APN	5	87090900	missense	possibly damaging	0.48
IGL03053:Ugt2b36	APN	5	87092074	missense	possibly damaging	0.95
R0370:Ugt2b36	UTSW	5	87091975	missense	probably benign	0.04
R0616:Ugt2b36	UTSW	5	87089477	missense	probably benign	0.01
R0827:Ugt2b36	UTSW	5	87066375	missense	possibly damaging	0.83
R0885:Ugt2b36	UTSW	5	87091989	missense	probably benign	0.03
R1471:Ugt2b36	UTSW	5	87092071	missense	probably damaging	1.00
R1567:Ugt2b36	UTSW	5	87092399	missense	probably damaging	1.00
R1782:Ugt2b36	UTSW	5	87081581	missense	possibly damaging	0.73
R2065:Ugt2b36	UTSW	5	87092241	missense	probably benign	0.03
R2066:Ugt2b36	UTSW	5	87092241	missense	probably benign	0.03
R2068:Ugt2b36	UTSW	5	87092241	missense	probably benign	0.03
R2111:Ugt2b36	UTSW	5	87092241	missense	probably benign	0.03
R2272:Ugt2b36	UTSW	5	87066255	missense	possibly damaging	0.65
R2696:Ugt2b36	UTSW	5	87089485	missense	probably damaging	1.00
R4626:Ugt2b36	UTSW	5	87092088	missense	probably damaging	1.00
R4700:Ugt2b36	UTSW	5	87092442	critical splice donor site	probably null
R4731:Ugt2b36	UTSW	5	87081538	nonsense	probably null
R4732:Ugt2b36	UTSW	5	87081538	nonsense	probably null
R4733:Ugt2b36	UTSW	5	87081538	nonsense	probably null
R4922:Ugt2b36	UTSW	5	87066324	missense	probably damaging	1.00
R5217:Ugt2b36	UTSW	5	87066255	missense	probably damaging	0.97
R5244:Ugt2b36	UTSW	5	87091906	missense	probably damaging	0.99
R5341:Ugt2b36	UTSW	5	87092228	nonsense	probably null
R5478:Ugt2b36	UTSW	5	87089482	missense	probably damaging	1.00
R5572:Ugt2b36	UTSW	5	87089482	missense	possibly damaging	0.89
R5722:Ugt2b36	UTSW	5	87092438	nonsense	probably null
R5961:Ugt2b36	UTSW	5	87080865	splice site	probably null
R6034:Ugt2b36	UTSW	5	87081518	missense	probably damaging	1.00
R6034:Ugt2b36	UTSW	5	87081518	missense	probably damaging	1.00
R6139:Ugt2b36	UTSW	5	87092171	missense	probably benign
R6145:Ugt2b36	UTSW	5	87066213	missense	probably benign
R6226:Ugt2b36	UTSW	5	87092130	missense	probably damaging	0.99
R6531:Ugt2b36	UTSW	5	87081586	missense	probably damaging	1.00
R6704:Ugt2b36	UTSW	5	87092131	missense	probably damaging	1.00
R6895:Ugt2b36	UTSW	5	87092298	missense	probably benign	0.06
R7218:Ugt2b36	UTSW	5	87081539	missense	probably damaging	1.00
R7258:Ugt2b36	UTSW	5	87080903	missense	probably damaging	1.00
R7310:Ugt2b36	UTSW	5	87066279	missense	possibly damaging	0.94
R7650:Ugt2b36	UTSW	5	87080972	missense	probably damaging	1.00
R7707:Ugt2b36	UTSW	5	87081508	critical splice donor site	probably null
R7866:Ugt2b36	UTSW	5	87092331	missense	probably damaging	1.00
R7967:Ugt2b36	UTSW	5	87066377	missense	probably damaging	1.00
R7985:Ugt2b36	UTSW	5	87092124	missense	probably damaging	1.00
R8098:Ugt2b36	UTSW	5	87092393	missense	probably benign	0.02
R8123:Ugt2b36	UTSW	5	87092436	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTCAAGCAGTGTAGAGGATG -3'
(R):5'- TCTACGAGGCGATCCATCATGG -3'

Sequencing Primer
(F):5'- GCAGAGTTTTATATTTAAGATGGTGC -3'
(R):5'- CATCATGGAATCCCTATGATTGGC -3'

Posted On

2014-08-25