Mutagenetix > Incidental Mutation

Incidental Mutation 'R8239:Ugt2b38'

637496

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b38

Ensembl Gene

ENSMUSG00000061906

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B38

Synonyms

MMRRC Submission

067646-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8239 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87409942-87424203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87423800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 124 (F124L)

Ref Sequence

ENSEMBL: ENSMUSP00000072598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072818]

AlphaFold

Q91WH2

Predicted Effect

probably benign
Transcript: ENSMUST00000072818
AA Change: F124L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000072598
Gene: ENSMUSG00000061906
AA Change: F124L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	527	4.1e-255	PFAM
Pfam:Glyco_tran_28_C	330	444	1.2e-7	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 40,825,069	S166P	probably damaging	Het
Appl1	T	A	14: 26,964,957	T19S	probably damaging	Het
Arid4b	T	A	13: 14,170,009	D557E	probably benign	Het
Aven	C	T	2: 112,559,775	R8W	probably benign	Het
C2cd2l	T	C	9: 44,316,205	E307G	possibly damaging	Het
Cdh7	A	C	1: 110,100,102	T526P	probably benign	Het
Dchs1	C	T	7: 105,765,511	V775M	probably benign	Het
Dennd1b	A	G	1: 139,041,935	N63S	probably benign	Het
Dtnb	A	T	12: 3,644,056	Y248F	unknown	Het
Ehbp1l1	T	A	19: 5,720,061	T405S	possibly damaging	Het
Fam149a	A	G	8: 45,350,453	Y415H	possibly damaging	Het
Fam186a	A	G	15: 99,941,310	L2351P	unknown	Het
Fsip2	T	G	2: 82,989,343	I5140S	possibly damaging	Het
Gm8674	T	C	13: 49,900,226	T749A	noncoding transcript	Het
Grasp	C	T	15: 101,231,021	L217F	probably damaging	Het
Kalrn	A	G	16: 34,049,783	V1894A	noncoding transcript	Het
Kpna3	A	T	14: 61,387,470	N141K	probably damaging	Het
Lrba	G	A	3: 86,542,575	G2067D	probably damaging	Het
Lrp2	G	T	2: 69,481,267	Y2622*	probably null	Het
Lrtm2	A	C	6: 119,320,817	F88V	probably damaging	Het
Mboat1	T	C	13: 30,245,350	S454P	probably damaging	Het
Nkpd1	C	T	7: 19,519,828	P40S	probably benign	Het
Olfr1065	C	A	2: 86,445,129	M284I	noncoding transcript	Het
Olfr1249	T	A	2: 89,630,563	I112F	probably damaging	Het
Olfr1535	T	C	13: 21,555,618	I135V	probably benign	Het
Olfr921	G	A	9: 38,775,281	V9M	noncoding transcript	Het
Patj	A	G	4: 98,682,071	E1711G	possibly damaging	Het
Pcdha4	A	T	18: 36,953,075	I104F	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Plekhg4	C	T	8: 105,380,914	R990*	probably null	Het
Pphln1	T	C	15: 93,489,049	S343P	probably benign	Het
Pram1	A	T	17: 33,641,267	K269N	probably damaging	Het
Psmd13	T	A	7: 140,886,537	I79K	probably damaging	Het
Ptprf	T	C	4: 118,212,112	D1586G	possibly damaging	Het
Ptprh	T	A	7: 4,581,091	Q167H	probably damaging	Het
Rbm46	C	T	3: 82,865,468	R119Q	probably benign	Het
Rreb1	T	C	13: 37,893,872	M20T	probably damaging	Het
Scrn2	T	G	11: 97,032,220	L163R	probably damaging	Het
Slc36a3	C	T	11: 55,131,607	V254I	probably benign	Het
Slc6a6	T	C	6: 91,724,970	F120L	probably benign	Het
Slc8a2	A	T	7: 16,145,305	H572L	probably benign	Het
Spats2	T	A	15: 99,208,895	D357E	probably damaging	Het
Speg	A	T	1: 75,419,033	N1816I	probably damaging	Het
Sult2b1	A	G	7: 45,783,937	V2A	unknown	Het
Susd3	T	C	13: 49,231,255	T231A	probably benign	Het
Tcp1	A	G	17: 12,920,851	D261G	probably benign	Het
Trpm2	C	G	10: 77,936,002	S601T	probably benign	Het
Unc80	G	T	1: 66,654,019	E2522D	probably benign	Het
Usp34	A	G	11: 23,446,750	T2365A		Het
Vmn2r92	G	T	17: 18,185,016	M807I	probably benign	Het
Vps13b	C	A	15: 35,597,404	P1030Q	probably damaging	Het
Wrn	T	G	8: 33,329,185	K246N	probably damaging	Het
Zer1	T	A	2: 30,101,135		probably null	Het

Other mutations in Ugt2b38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Ugt2b38	APN	5	87411823	missense	probably damaging	1.00
IGL02326:Ugt2b38	APN	5	87423733	missense	probably damaging	1.00
IGL02537:Ugt2b38	APN	5	87421731	missense	possibly damaging	0.91
IGL02543:Ugt2b38	APN	5	87423483	missense	probably benign	0.00
IGL02852:Ugt2b38	APN	5	87411741	missense	probably benign
IGL03008:Ugt2b38	APN	5	87412423	missense	probably benign	0.00
over_easy	UTSW	5	87423742	missense	probably benign	0.25
R0089:Ugt2b38	UTSW	5	87420558	missense	probably benign	0.00
R0647:Ugt2b38	UTSW	5	87423469	missense	probably benign	0.00
R0731:Ugt2b38	UTSW	5	87420452	missense	probably damaging	1.00
R0837:Ugt2b38	UTSW	5	87411773	missense	probably damaging	1.00
R0966:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R0969:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R0970:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R0971:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R1068:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R1070:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R1071:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R1073:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R1133:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R1134:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R1367:Ugt2b38	UTSW	5	87424114	missense	probably benign	0.11
R1383:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R1467:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R1467:Ugt2b38	UTSW	5	87412373	missense	probably damaging	1.00
R1565:Ugt2b38	UTSW	5	87411914	missense	probably damaging	0.99
R1691:Ugt2b38	UTSW	5	87424132	missense	probably benign
R1725:Ugt2b38	UTSW	5	87411871	missense	probably damaging	1.00
R1736:Ugt2b38	UTSW	5	87423633	missense	probably benign
R2230:Ugt2b38	UTSW	5	87421668	missense	probably benign	0.05
R2419:Ugt2b38	UTSW	5	87423732	missense	probably damaging	1.00
R2496:Ugt2b38	UTSW	5	87421692	missense	probably damaging	1.00
R3196:Ugt2b38	UTSW	5	87410219	missense	probably damaging	0.96
R3773:Ugt2b38	UTSW	5	87424095	missense	probably damaging	0.99
R5125:Ugt2b38	UTSW	5	87411812	missense	probably damaging	1.00
R5224:Ugt2b38	UTSW	5	87423742	missense	probably benign	0.25
R5516:Ugt2b38	UTSW	5	87411843	missense	probably damaging	1.00
R5765:Ugt2b38	UTSW	5	87424095	missense	probably damaging	0.99
R6352:Ugt2b38	UTSW	5	87424001	missense	possibly damaging	0.73
R7166:Ugt2b38	UTSW	5	87410446	missense	probably damaging	1.00
R7210:Ugt2b38	UTSW	5	87410425	missense	probably damaging	0.99
R7291:Ugt2b38	UTSW	5	87411895	missense	probably damaging	1.00
R7483:Ugt2b38	UTSW	5	87424114	missense	probably damaging	0.96
R7969:Ugt2b38	UTSW	5	87424032	missense	probably benign	0.02
R8118:Ugt2b38	UTSW	5	87423771	missense	probably damaging	1.00
R8676:Ugt2b38	UTSW	5	87411822	missense	probably benign	0.12
R9178:Ugt2b38	UTSW	5	87420537	missense	probably damaging	1.00
R9193:Ugt2b38	UTSW	5	87423870	missense	probably benign	0.05
R9566:Ugt2b38	UTSW	5	87410350	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTGGTAGCCTGGAGAGAAGC -3'
(R):5'- CAGAGAGGCCATGAAGTCACTG -3'

Sequencing Primer
(F):5'- CCTGGAGAGAAGCGGATACTGTAC -3'
(R):5'- GCCATGAAGTCACTGTTCTGAGAC -3'

Posted On

2020-07-13