Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02537:Ugt2b38'

297551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt2b38

Ensembl Gene

ENSMUSG00000061906

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B38

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02537

Quality Score

Status

Chromosome

Chromosomal Location

87409942-87424203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87421731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 246 (T246A)

Ref Sequence

ENSEMBL: ENSMUSP00000072598 (fasta)

Gene Model

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

AlphaFold

Q91WH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072818
AA Change: T246A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072598
Gene: ENSMUSG00000061906
AA Change: T246A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Alx3	T	A	3: 107,604,859	M271K	possibly damaging	Het
Ank2	T	C	3: 126,955,916	E488G	probably damaging	Het
Arsk	T	A	13: 76,074,906	R191*	probably null	Het
B230217C12Rik	T	C	11: 97,842,185	S111P	possibly damaging	Het
Bckdhb	A	G	9: 83,989,141	I158V	probably benign	Het
Bub1	G	A	2: 127,801,347	Q1026*	probably null	Het
C8a	A	G	4: 104,845,951	M303T	probably damaging	Het
Cftr	A	G	6: 18,274,597	T905A	probably benign	Het
Col14a1	A	T	15: 55,344,914	K132*	probably null	Het
Depdc5	T	A	5: 32,967,787	L531Q	probably damaging	Het
Dzip1	G	A	14: 118,909,576		probably benign	Het
F5	C	A	1: 164,193,117	L1054I	probably benign	Het
Gm4353	A	T	7: 116,083,752	I198N	probably damaging	Het
Il1a	T	A	2: 129,309,076	E9V	probably damaging	Het
Kif15	A	G	9: 122,993,849	T432A	probably benign	Het
Kndc1	T	C	7: 139,910,410	V276A	probably benign	Het
Mrvi1	A	T	7: 110,871,473	Y678*	probably null	Het
Narfl	C	T	17: 25,778,942		probably benign	Het
Olfr1247	A	C	2: 89,609,395	S236A	possibly damaging	Het
Olfr170	A	T	16: 19,605,799	Y290N	probably damaging	Het
Olfr430	A	T	1: 174,069,454	D52V	possibly damaging	Het
Palld	T	C	8: 61,684,934	S596G	probably benign	Het
Pdc	A	T	1: 150,333,009	D81V	possibly damaging	Het
Plcd4	A	G	1: 74,556,050	K361R	possibly damaging	Het
Plekhm1	T	A	11: 103,397,192	D43V	probably damaging	Het
Prpf31	G	T	7: 3,638,751	G356C	probably damaging	Het
Rbpj	T	A	5: 53,642,143	I100K	probably damaging	Het
Rufy3	A	G	5: 88,640,662		probably benign	Het
Slc40a1	C	T	1: 45,911,393	V300I	probably benign	Het
Slc6a12	A	T	6: 121,360,514	I386F	probably benign	Het
Strip1	C	T	3: 107,616,894	R569H	possibly damaging	Het
Tep1	A	T	14: 50,836,113	D1996E	probably damaging	Het
Tmem68	A	G	4: 3,569,649	S14P	possibly damaging	Het
Trav12-1	C	A	14: 53,538,523	C44*	probably null	Het
Uba1	G	A	X: 20,678,663	R693H	possibly damaging	Het
Usp24	A	G	4: 106,392,367	Y1427C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,288	Y558F	probably damaging	Het
Wdr54	A	G	6: 83,153,391	W221R	possibly damaging	Het
Xpo4	T	C	14: 57,593,833	T773A	probably benign	Het
Zfp518a	T	A	19: 40,915,430	S1268T	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Znfx1	T	C	2: 167,056,167	D279G	probably benign	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
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
R8239:Ugt2b38	UTSW	5	87423800	missense	probably benign	0.02
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

Posted On

2015-04-16