Mutagenetix > Incidental Mutations

Incidental Mutation 'R7239:Ugt2b37'

563063

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b37

Ensembl Gene

ENSMUSG00000057425

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B37

Synonyms

0610033E06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87240493-87254804 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87254731 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 14 (I14L)

Ref Sequence

ENSEMBL: ENSMUSP00000075255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075858]

Predicted Effect

probably benign
Transcript: ENSMUST00000075858
AA Change: I14L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075255
Gene: ENSMUSG00000057425
AA Change: I14L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	527	5.5e-256	PFAM
Pfam:Glyco_tran_28_C	328	449	2.5e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,653,518	V144A	probably damaging	Het
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca5	A	T	11: 110,326,704	Y109N	possibly damaging	Het
Abcb5	T	C	12: 118,928,725	Q433R	probably benign	Het
Adamts7	G	A	9: 90,186,557		probably null	Het
Adgrv1	T	C	13: 81,476,612	D3746G	possibly damaging	Het
Arhgap29	C	T	3: 121,988,950	S159L	probably benign	Het
Arhgap5	T	A	12: 52,517,376	C377S	probably benign	Het
Atp1a3	G	A	7: 25,000,704	P77L	probably damaging	Het
B4galt1	T	C	4: 40,812,754	D257G	probably damaging	Het
Bin1	T	A	18: 32,406,171	N52K	probably damaging	Het
Catsperg2	A	G	7: 29,710,082	M562T	probably benign	Het
Ccdc33	G	A	9: 58,032,909	Q713*	probably null	Het
Cd96	A	T	16: 46,109,114	L156Q	probably damaging	Het
Clpb	A	G	7: 101,711,455	T231A	probably damaging	Het
Dnmt3a	A	T	12: 3,872,850	Q151L	probably benign	Het
Dock2	C	T	11: 34,231,677	V1629M	probably benign	Het
Edem1	G	A	6: 108,854,380	D601N	probably benign	Het
Eno2	C	T	6: 124,768,265	V20M	probably damaging	Het
Eny2	A	C	15: 44,433,854	D52A	probably benign	Het
Esp36	T	C	17: 38,417,241	R93G	possibly damaging	Het
Fam227a	A	G	15: 79,634,062		probably null	Het
Fat4	C	A	3: 38,983,840	H3880Q	possibly damaging	Het
Fbxw24	A	T	9: 109,605,530	V334E	possibly damaging	Het
Flrt1	T	C	19: 7,095,964	Q406R	probably benign	Het
Frmpd2	A	G	14: 33,552,077	N1092S	probably benign	Het
Gm904	C	A	13: 50,645,251	T82K	probably benign	Het
Gnas	G	C	2: 174,298,615	G252R	unknown	Het
Gpatch2l	A	G	12: 86,260,575		probably null	Het
Hist1h2ac	A	T	13: 23,683,610	I103N	probably damaging	Het
Ift74	T	C	4: 94,652,950	V204A	probably benign	Het
Ikzf4	A	G	10: 128,641,244	L119P	probably damaging	Het
Ing3	G	A	6: 21,952,194	E56K	probably damaging	Het
Klhl25	T	C	7: 75,866,768	I474T	probably benign	Het
Klhl5	T	C	5: 65,161,186	V556A	probably damaging	Het
Krt14	A	T	11: 100,204,255	M382K	probably benign	Het
Lmcd1	T	C	6: 112,315,784	V199A	possibly damaging	Het
Lpcat4	T	A	2: 112,242,707	F200I	possibly damaging	Het
Lrp1b	T	C	2: 41,004,713	T2282A		Het
Lrrk1	T	C	7: 66,262,155	T1886A	probably benign	Het
Meis2	T	C	2: 116,059,003		probably null	Het
Mki67	C	T	7: 135,700,176	R1043K	possibly damaging	Het
Myct1	G	T	10: 5,604,601	R156L	possibly damaging	Het
Nckap5l	G	T	15: 99,426,209	H804Q	probably damaging	Het
Ndst3	T	G	3: 123,606,906	E450D	probably damaging	Het
Nipbl	A	T	15: 8,292,135		probably null	Het
Npy	A	G	6: 49,823,607	N4D	probably benign	Het
Olfr855	A	T	9: 19,585,191	Y218F	probably damaging	Het
Osgin2	T	C	4: 16,008,748	S18G	probably benign	Het
Pcdha9	T	G	18: 36,998,498	F207V	probably benign	Het
Pcdhb13	A	T	18: 37,444,644	I692F	probably damaging	Het
Pde3b	T	A	7: 114,416,149	V200E	probably damaging	Het
Ppp6r3	A	T	19: 3,493,981	L345I	probably benign	Het
Psd2	G	A	18: 35,980,419	A315T	probably damaging	Het
Rnf111	G	A	9: 70,469,373	T328I	probably damaging	Het
Rnf213	T	C	11: 119,458,788	L3825P		Het
Rtl1	C	T	12: 109,592,475	V977I	probably benign	Het
Scn1a	G	A	2: 66,277,656		probably null	Het
Slc25a2	G	T	18: 37,637,695	N260K	probably benign	Het
Sprtn	T	C	8: 124,900,244	V121A	probably damaging	Het
Ssx2ip	T	G	3: 146,428,016	L260W	probably damaging	Het
Syde1	G	A	10: 78,588,781	R406C	probably damaging	Het
Tab1	A	G	15: 80,133,171	R6G	probably benign	Het
Tenm4	G	A	7: 96,735,813	V526I	possibly damaging	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tfap2b	T	C	1: 19,234,180	F405L	probably damaging	Het
Trbv13-1	C	A	6: 41,116,391	T87K	probably benign	Het
Trmt44	G	T	5: 35,574,786	A87E	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Ttn	G	A	2: 76,881,328	R8290C	unknown	Het
Ttn	T	C	2: 76,787,290	D16279G	probably damaging	Het
Vmn1r13	A	T	6: 57,210,626	M257L	probably benign	Het
Vmn1r184	C	T	7: 26,267,177	P116L	possibly damaging	Het
Zfp426	T	C	9: 20,470,591	T367A	probably benign	Het
Zfp647	A	T	15: 76,911,756	C235S	probably damaging	Het

Other mutations in Ugt2b37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Ugt2b37	APN	5	87242481	missense	possibly damaging	0.90
IGL00567:Ugt2b37	APN	5	87254074	missense	probably damaging	1.00
IGL00787:Ugt2b37	APN	5	87242429	missense	probably benign	0.00
IGL01560:Ugt2b37	APN	5	87251839	missense	probably damaging	1.00
IGL01617:Ugt2b37	APN	5	87251879	missense	probably damaging	1.00
IGL01982:Ugt2b37	APN	5	87242432	missense	probably damaging	1.00
IGL02299:Ugt2b37	APN	5	87242315	missense	probably benign	0.00
IGL02323:Ugt2b37	APN	5	87250564	splice site	probably benign
IGL02326:Ugt2b37	APN	5	87241002	missense	probably benign	0.25
IGL02516:Ugt2b37	APN	5	87240882	missense	probably damaging	1.00
IGL03285:Ugt2b37	APN	5	87240875	missense	probably damaging	1.00
R0076:Ugt2b37	UTSW	5	87254221	missense	probably benign	0.31
R0141:Ugt2b37	UTSW	5	87240983	missense	probably damaging	1.00
R0312:Ugt2b37	UTSW	5	87250665	missense	probably damaging	1.00
R0359:Ugt2b37	UTSW	5	87250584	missense	probably benign	0.10
R0523:Ugt2b37	UTSW	5	87251832	missense	possibly damaging	0.91
R1938:Ugt2b37	UTSW	5	87240857	missense	probably damaging	1.00
R1962:Ugt2b37	UTSW	5	87254334	missense	probably damaging	1.00
R2496:Ugt2b37	UTSW	5	87254710	missense	probably damaging	0.97
R3704:Ugt2b37	UTSW	5	87242987	missense	possibly damaging	0.55
R4430:Ugt2b37	UTSW	5	87254092	missense	probably benign	0.00
R4825:Ugt2b37	UTSW	5	87250639	missense	possibly damaging	0.91
R5043:Ugt2b37	UTSW	5	87251860	nonsense	probably null
R5098:Ugt2b37	UTSW	5	87242953	missense	probably damaging	1.00
R5174:Ugt2b37	UTSW	5	87251880	missense	probably benign	0.00
R5522:Ugt2b37	UTSW	5	87240900	missense	probably benign	0.14
R5879:Ugt2b37	UTSW	5	87254406	missense	probably benign
R5999:Ugt2b37	UTSW	5	87254177	missense	probably benign	0.25
R6374:Ugt2b37	UTSW	5	87242420	missense	probably damaging	1.00
R6454:Ugt2b37	UTSW	5	87240977	missense	probably damaging	1.00
R6857:Ugt2b37	UTSW	5	87240846	missense	probably damaging	0.98
R6875:Ugt2b37	UTSW	5	87242429	missense	probably benign	0.00
R6916:Ugt2b37	UTSW	5	87254600	missense	probably benign	0.07
R7099:Ugt2b37	UTSW	5	87240989	missense	probably benign	0.00
R7470:Ugt2b37	UTSW	5	87254112	missense	probably benign	0.24
R7810:Ugt2b37	UTSW	5	87254259	missense	probably damaging	1.00
R7841:Ugt2b37	UTSW	5	87250630	missense	probably benign	0.05
R7860:Ugt2b37	UTSW	5	87254330	missense	probably damaging	1.00
R7861:Ugt2b37	UTSW	5	87242440	nonsense	probably null
R8200:Ugt2b37	UTSW	5	87240891	nonsense	probably null
R8211:Ugt2b37	UTSW	5	87242376	missense	probably benign	0.07
R8282:Ugt2b37	UTSW	5	87254581	missense	probably benign	0.01
R8312:Ugt2b37	UTSW	5	87242940	missense	probably benign	0.15
R8520:Ugt2b37	UTSW	5	87240855	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GTTTCAAACTTAAGGCCAGGTG -3'
(R):5'- TGACTCACTCTCATGTAAACAGG -3'

Sequencing Primer
(F):5'- AGGTCTCAGAACAGTGAC -3'
(R):5'- ACTCTCATGTAAACAGGGAATAATTG -3'

Posted On

2019-06-26