Mutagenetix > Incidental Mutations

Incidental Mutation 'R7310:Ugt2b36'

567493

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b36

Ensembl Gene

ENSMUSG00000070704

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B36

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87065927-87092555 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87066279 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 502 (V502E)

Ref Sequence

ENSEMBL: ENSMUSP00000092233 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094649
AA Change: V502E

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704
AA Change: V502E

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,880,268	Q192L	possibly damaging	Het
3110002H16Rik	A	G	18: 12,184,915	K362E	probably benign	Het
Abat	G	A	16: 8,605,593	R250Q	probably null	Het
Abcg3	A	C	5: 104,966,766	F295C	probably benign	Het
Abl1	T	C	2: 31,800,592	S708P	possibly damaging	Het
Acap2	A	T	16: 31,108,154	Y489*	probably null	Het
Akr1c6	A	T	13: 4,436,355	M54L	probably benign	Het
Arhgap5	A	T	12: 52,542,487		probably null	Het
Asap1	A	G	15: 64,099,530		probably null	Het
Atrnl1	A	T	19: 57,642,424	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,139		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,888,148		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,888,173		probably benign	Het
BC049762	A	C	11: 51,254,647	W38G	probably damaging	Het
Bmi1	T	C	2: 18,684,419	S305P	probably benign	Het
Bpifc	T	A	10: 85,963,027	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,415,238	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,314,916	D428V	probably damaging	Het
Card14	A	C	11: 119,326,179	Q363P	probably null	Het
Cdca2	A	T	14: 67,713,224	L86H	probably damaging	Het
Cdh22	G	T	2: 165,112,294	S769*	probably null	Het
Cep164	T	C	9: 45,775,366	E690G	probably damaging	Het
Cluh	A	G	11: 74,669,459	H1304R	probably benign	Het
Daxx	C	A	17: 33,910,461	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,596,967	M1117V	possibly damaging	Het
Dusp27	G	A	1: 166,098,731	T1104I	possibly damaging	Het
Entpd3	T	A	9: 120,560,755		probably null	Het
Esr1	G	A	10: 4,939,259	A386T	probably damaging	Het
Etv5	G	A	16: 22,401,737	P300L	probably benign	Het
Exoc3l	A	T	8: 105,293,708	L195Q	probably damaging	Het
Exog	T	C	9: 119,445,003	L18P	unknown	Het
Fgfr1	T	A	8: 25,562,315	V219D	probably benign	Het
Gm28710	A	G	5: 16,870,248	Y872C	possibly damaging	Het
Gna14	A	T	19: 16,533,749	Q54L		Het
Gnb5	T	C	9: 75,314,288	L48P	probably benign	Het
Gpbp1	A	G	13: 111,453,390	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,241,457	D48E	probably damaging	Het
Hrc	T	A	7: 45,335,803	L126*	probably null	Het
Hspa8	T	G	9: 40,803,408	D333E	probably benign	Het
Igsf3	T	A	3: 101,431,579	V403D	probably benign	Het
Itga10	C	A	3: 96,648,159	A143D	probably damaging	Het
Kdr	T	A	5: 75,944,325	I1082F	probably damaging	Het
Klk11	A	T	7: 43,778,830	I242F	probably damaging	Het
Kng2	G	A	16: 22,987,772	T559I	probably benign	Het
Map1b	G	A	13: 99,433,655	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,462,251	T358S	probably damaging	Het
Mttp	T	C	3: 138,095,022	D759G	probably damaging	Het
Mup17	T	A	4: 61,593,692	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,705,828	A79S	probably damaging	Het
Myo9a	T	A	9: 59,871,153	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,381		probably null	Het
Ncf1	A	T	5: 134,221,761	S402T	probably benign	Het
Ndufb10	T	C	17: 24,722,214	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,830,583	T163M	possibly damaging	Het
Nol4	A	T	18: 22,770,744	H172Q		Het
Nup205	T	A	6: 35,225,969	D1370E	possibly damaging	Het
Olfr1447	A	G	19: 12,901,273	F169S	probably damaging	Het
Olfr392	A	C	11: 73,814,286	N265K	probably damaging	Het
Olfr613	T	A	7: 103,552,685	I300N	probably damaging	Het
Pkd1l2	A	G	8: 117,024,034	V1746A	probably benign	Het
Plin2	T	A	4: 86,668,391	I68F	probably benign	Het
Proc	A	T	18: 32,135,899	M11K	probably benign	Het
Rif1	T	C	2: 52,105,619	V950A	probably benign	Het
Rnf208	C	A	2: 25,243,575	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,521,011	Y269*	probably null	Het
Senp7	T	C	16: 56,186,082	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,372,495	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,399,696	H383N	probably benign	Het
Slc12a5	G	A	2: 164,992,440	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,379,025	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,202,348	I199L	probably damaging	Het
Tle4	A	T	19: 14,517,791	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,031,651	S271*	probably null	Het
Tnks2	G	A	19: 36,879,439	V855I	probably benign	Het
Trank1	T	C	9: 111,367,126	L1406S	probably damaging	Het
Trhde	T	C	10: 114,800,573	E243G	probably damaging	Het
Trim25	A	T	11: 89,015,782	N448I	probably benign	Het
Trim31	T	A	17: 36,907,302	M308K	probably benign	Het
Usp10	A	C	8: 119,941,605	D215A	possibly damaging	Het
Usp33	T	G	3: 152,360,389	L102*	probably null	Het
Wdr12	A	T	1: 60,082,575	C272*	probably null	Het
Xndc1	A	C	7: 102,078,731		probably null	Het
Zkscan2	T	C	7: 123,490,053	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,984,688	T822S	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
R1974:Ugt2b36	UTSW	5	87080868	critical splice donor site	probably null
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
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
R7949:Ugt2b36	UTSW	5	87092331	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAGTAGCCCCAGAATTATATGTG -3'
(R):5'- TTGTCAACCATTCACCATGACC -3'

Sequencing Primer
(F):5'- GTAGCCCCAGAATTATATGTGTTTTG -3'
(R):5'- TTCACCATGACCAGCCTATG -3'

Posted On

2019-06-26