Mutagenetix > Incidental Mutation

Incidental Mutation 'R1133:Ugt2b38'

94523

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b38

Ensembl Gene

ENSMUSG00000061906

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B38

Synonyms

9430041C03Rik

MMRRC Submission

039206-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87557801-87572062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87560232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 361 (N361H)

Ref Sequence

ENSEMBL: ENSMUSP00000072598 (fasta)

Gene Model

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

AlphaFold

Q91WH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000072818
AA Change: N361H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072598
Gene: ENSMUSG00000061906
AA Change: N361H

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

Meta Mutation Damage Score

0.8618

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahr	A	G	12: 35,576,805 (GRCm39)	L42P	probably damaging	Het
B430305J03Rik	C	T	3: 61,271,430 (GRCm39)	W105*	probably null	Het
Gpr156	T	A	16: 37,825,683 (GRCm39)	N633K	probably benign	Het
Hook2	T	C	8: 85,722,433 (GRCm39)	L324P	probably damaging	Het
Ift70a2	G	A	2: 75,807,727 (GRCm39)	Q262*	probably null	Het
Or8b3	A	T	9: 38,315,027 (GRCm39)	M283L	probably benign	Het
Socs4	A	G	14: 47,527,651 (GRCm39)	I195M	probably benign	Het
Syne1	A	G	10: 5,299,044 (GRCm39)	I1014T	possibly damaging	Het

Other mutations in Ugt2b38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Ugt2b38	APN	5	87,559,682 (GRCm39)	missense	probably damaging	1.00
IGL02326:Ugt2b38	APN	5	87,571,592 (GRCm39)	missense	probably damaging	1.00
IGL02537:Ugt2b38	APN	5	87,569,590 (GRCm39)	missense	possibly damaging	0.91
IGL02543:Ugt2b38	APN	5	87,571,342 (GRCm39)	missense	probably benign	0.00
IGL02852:Ugt2b38	APN	5	87,559,600 (GRCm39)	missense	probably benign
IGL03008:Ugt2b38	APN	5	87,560,282 (GRCm39)	missense	probably benign	0.00
over_easy	UTSW	5	87,571,601 (GRCm39)	missense	probably benign	0.25
R0089:Ugt2b38	UTSW	5	87,568,417 (GRCm39)	missense	probably benign	0.00
R0647:Ugt2b38	UTSW	5	87,571,328 (GRCm39)	missense	probably benign	0.00
R0731:Ugt2b38	UTSW	5	87,568,311 (GRCm39)	missense	probably damaging	1.00
R0837:Ugt2b38	UTSW	5	87,559,632 (GRCm39)	missense	probably damaging	1.00
R0966:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R0969:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R0970:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R0971:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R1068:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R1070:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R1071:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R1073:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R1134:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R1367:Ugt2b38	UTSW	5	87,571,973 (GRCm39)	missense	probably benign	0.11
R1383:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R1467:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R1467:Ugt2b38	UTSW	5	87,560,232 (GRCm39)	missense	probably damaging	1.00
R1565:Ugt2b38	UTSW	5	87,559,773 (GRCm39)	missense	probably damaging	0.99
R1691:Ugt2b38	UTSW	5	87,571,991 (GRCm39)	missense	probably benign
R1725:Ugt2b38	UTSW	5	87,559,730 (GRCm39)	missense	probably damaging	1.00
R1736:Ugt2b38	UTSW	5	87,571,492 (GRCm39)	missense	probably benign
R2230:Ugt2b38	UTSW	5	87,569,527 (GRCm39)	missense	probably benign	0.05
R2419:Ugt2b38	UTSW	5	87,571,591 (GRCm39)	missense	probably damaging	1.00
R2496:Ugt2b38	UTSW	5	87,569,551 (GRCm39)	missense	probably damaging	1.00
R3196:Ugt2b38	UTSW	5	87,558,078 (GRCm39)	missense	probably damaging	0.96
R3773:Ugt2b38	UTSW	5	87,571,954 (GRCm39)	missense	probably damaging	0.99
R5125:Ugt2b38	UTSW	5	87,559,671 (GRCm39)	missense	probably damaging	1.00
R5224:Ugt2b38	UTSW	5	87,571,601 (GRCm39)	missense	probably benign	0.25
R5516:Ugt2b38	UTSW	5	87,559,702 (GRCm39)	missense	probably damaging	1.00
R5765:Ugt2b38	UTSW	5	87,571,954 (GRCm39)	missense	probably damaging	0.99
R6352:Ugt2b38	UTSW	5	87,571,860 (GRCm39)	missense	possibly damaging	0.73
R7166:Ugt2b38	UTSW	5	87,558,305 (GRCm39)	missense	probably damaging	1.00
R7210:Ugt2b38	UTSW	5	87,558,284 (GRCm39)	missense	probably damaging	0.99
R7291:Ugt2b38	UTSW	5	87,559,754 (GRCm39)	missense	probably damaging	1.00
R7483:Ugt2b38	UTSW	5	87,571,973 (GRCm39)	missense	probably damaging	0.96
R7969:Ugt2b38	UTSW	5	87,571,891 (GRCm39)	missense	probably benign	0.02
R8118:Ugt2b38	UTSW	5	87,571,630 (GRCm39)	missense	probably damaging	1.00
R8239:Ugt2b38	UTSW	5	87,571,659 (GRCm39)	missense	probably benign	0.02
R8676:Ugt2b38	UTSW	5	87,559,681 (GRCm39)	missense	probably benign	0.12
R9178:Ugt2b38	UTSW	5	87,568,396 (GRCm39)	missense	probably damaging	1.00
R9193:Ugt2b38	UTSW	5	87,571,729 (GRCm39)	missense	probably benign	0.05
R9566:Ugt2b38	UTSW	5	87,558,209 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGCCCCACCATGAGTTACAAAG -3'
(R):5'- GGCACACTCGTTGCTCAGTCTT -3'

Sequencing Primer
(F):5'- CTCTGTCTCAGAGCTAGAAGAATC -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2014-01-05