Mutagenetix > Incidental Mutation

Incidental Mutation 'R9193:Ugt2b38'

697799

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b38

Ensembl Gene

ENSMUSG00000061906

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B38

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R9193 (G1)

Quality Score

142.008

Status

Not validated

Chromosome

Chromosomal Location

87409942-87424203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87423870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 101 (M101K)

Ref Sequence

ENSEMBL: ENSMUSP00000072598 (fasta)

Gene Model

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

AlphaFold

Q91WH2

Predicted Effect

probably benign
Transcript: ENSMUST00000072818
AA Change: M101K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000072598
Gene: ENSMUSG00000061906
AA Change: M101K

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,519	D284G	probably benign	Het
Ak1	A	T	2: 32,630,379	K79M	probably benign	Het
Amy1	T	C	3: 113,562,629	K293E	probably benign	Het
Bcl2l10	A	G	9: 75,348,051	Q50R	probably benign	Het
Bpifa6	G	A	2: 153,984,820	G35D	probably benign	Het
Cachd1	C	A	4: 100,777,142	P5Q	unknown	Het
Capn13	A	T	17: 73,345,196	I266N	probably damaging	Het
Ccdc144b	G	T	3: 36,035,279	N165K	probably benign	Het
Chil3	A	G	3: 106,155,765	S170P	possibly damaging	Het
Ckap4	A	G	10: 84,527,486	I571T	probably damaging	Het
Col14a1	A	G	15: 55,379,568	M371V	unknown	Het
Dag1	A	G	9: 108,208,268	L558P	possibly damaging	Het
Edem3	G	A	1: 151,818,519	E868K	probably benign	Het
Eif3k	T	C	7: 28,974,199	Y150C	probably damaging	Het
Farp1	T	C	14: 121,280,869	I988T	probably benign	Het
Fat3	A	G	9: 15,998,952	M1918T	probably benign	Het
Gba2	A	G	4: 43,578,112	I79T	probably benign	Het
Gbp8	T	C	5: 105,031,303	D110G	probably damaging	Het
H2-Bl	A	G	17: 36,081,064	V39A	possibly damaging	Het
H2-M2	T	A	17: 37,482,537	M193L	probably benign	Het
Ighv7-1	T	A	12: 113,896,490	D94V	probably damaging	Het
Il2ra	T	C	2: 11,684,391	F244L	possibly damaging	Het
Jag1	A	T	2: 137,089,844	H602Q	probably null	Het
Kidins220	A	T	12: 24,986,967	I16F	possibly damaging	Het
Klb	A	G	5: 65,372,025	T299A	possibly damaging	Het
Lama4	A	G	10: 39,075,448	K1063R	probably benign	Het
Lrit2	A	G	14: 37,072,593	E538G	possibly damaging	Het
Lrrc7	A	T	3: 158,353,374	L32*	probably null	Het
Lrrtm3	A	T	10: 63,930,104	I568N	probably damaging	Het
Myom1	A	G	17: 71,036,300	D164G	probably damaging	Het
Naaladl2	T	C	3: 23,846,578	D696G	probably damaging	Het
Nalcn	A	T	14: 123,308,380	L1073*	probably null	Het
Nid2	T	C	14: 19,803,210	S1166P	probably damaging	Het
Nlrp4c	T	C	7: 6,092,622	V833A	probably benign	Het
Nyap2	T	C	1: 81,297,997	S619P	probably damaging	Het
Olfr1008	C	A	2: 85,690,300	Y290*	probably null	Het
Olfr1243	A	G	2: 89,527,643	Y256H	probably damaging	Het
Olfr434	A	T	6: 43,217,152	T80S	probably benign	Het
Olfr976	T	C	9: 39,956,582	M118V	probably damaging	Het
P3h2	T	C	16: 26,105,241	N148S	probably benign	Het
P4htm	A	G	9: 108,582,882	M231T	probably damaging	Het
Pank1	T	A	19: 34,827,234	K349I	possibly damaging	Het
Pgam5	A	G	5: 110,265,600	Y210H	probably benign	Het
Prl2a1	T	A	13: 27,808,552	C220S	probably damaging	Het
Prpmp5	T	C	6: 132,312,033	H276R	unknown	Het
Psca	C	T	15: 74,716,083	Q39*	probably null	Het
Rgs20	A	T	1: 5,020,844	M121K	possibly damaging	Het
S100z	C	T	13: 95,477,375	V76M	possibly damaging	Het
Slc30a10	T	C	1: 185,462,837	I282T	probably damaging	Het
Slc30a3	T	C	5: 31,088,744	Y214C	probably damaging	Het
Sox5	C	T	6: 143,844,844	E497K	probably benign	Het
Sptbn1	C	T	11: 30,137,551	E963K	possibly damaging	Het
Srl	T	C	16: 4,493,859	E465G	possibly damaging	Het
Tacc2	T	C	7: 130,626,574	M1663T	probably benign	Het
Tas2r119	T	G	15: 32,177,786	V166G	probably benign	Het
Tcf7l1	A	G	6: 72,634,222	V191A	probably damaging	Het
Thap7	A	T	16: 17,529,037	I92K	probably damaging	Het
Tnfsf10	A	G	3: 27,317,258	T38A	possibly damaging	Het
Trav7-5	C	G	14: 53,531,158	A61G	probably benign	Het
Trim30c	C	T	7: 104,382,346	V421I	probably benign	Het
Vmn1r44	T	A	6: 89,893,583	C104S	probably damaging	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp735	A	T	11: 73,689,774	Y33F	possibly damaging	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
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
R9566:Ugt2b38	UTSW	5	87410350	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGCAGTTCAGCTATGAG -3'
(R):5'- GCCGATGGAATTCAGTCATTGG -3'

Sequencing Primer
(F):5'- GCTATGAGCTCCCCACAGGAAG -3'
(R):5'- CGATGGAATTCAGTCATTGGATGAAC -3'

Posted On

2022-02-07