Mutagenetix > Incidental Mutation

Incidental Mutation 'R7810:Ugt2b37'

601074

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b37

Ensembl Gene

ENSMUSG00000057425

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B37

Synonyms

0610033E06Rik

MMRRC Submission

045865-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87388351-87402647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87402118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 171 (Y171C)

Ref Sequence

ENSEMBL: ENSMUSP00000075255 (fasta)

Gene Model

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

AlphaFold

Q8VCN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000075858
AA Change: Y171C

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

SMART Domains

Protein: ENSMUSP00000075255
Gene: ENSMUSG00000057425
AA Change: Y171C

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: 99.7%
20x: 99.0%

Validation Efficiency

99% (91/92)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,105,045 (GRCm39)	E200G	probably benign	Het
Ankfy1	C	T	11: 72,645,281 (GRCm39)	Q787*	probably null	Het
Birc6	T	A	17: 74,855,815 (GRCm39)	H208Q	probably damaging	Het
Brsk2	T	A	7: 141,539,157 (GRCm39)		probably null	Het
Cabp5	T	A	7: 13,132,263 (GRCm39)	F11I	possibly damaging	Het
Ccdc88a	T	C	11: 29,435,964 (GRCm39)	Y1296H	probably damaging	Het
Ccdc88b	A	G	19: 6,826,454 (GRCm39)	V1087A	probably benign	Het
Cct3	C	T	3: 88,228,442 (GRCm39)	T508I	probably damaging	Het
Ceacam9	T	A	7: 16,457,658 (GRCm39)	M57K	possibly damaging	Het
Ces1f	T	C	8: 93,983,546 (GRCm39)	E487G	probably damaging	Het
Chd5	A	G	4: 152,443,032 (GRCm39)	K278E	probably damaging	Het
Cntnap3	T	A	13: 64,941,122 (GRCm39)	H286L	possibly damaging	Het
Dnai7	T	G	6: 145,140,312 (GRCm39)	D163A	probably benign	Het
Efr3a	G	T	15: 65,659,022 (GRCm39)		probably benign	Het
Fastkd2	T	A	1: 63,770,851 (GRCm39)	I69N	possibly damaging	Het
Flg2	T	C	3: 93,107,548 (GRCm39)	I11T	possibly damaging	Het
Folr2	T	C	7: 101,490,102 (GRCm39)	M84V	possibly damaging	Het
Galnt12	T	C	4: 47,113,786 (GRCm39)	F360S	probably damaging	Het
Galr2	T	C	11: 116,173,946 (GRCm39)	V192A	probably benign	Het
Gas6	A	T	8: 13,516,809 (GRCm39)	I563N	probably damaging	Het
Gbe1	T	C	16: 70,324,085 (GRCm39)	F567L	possibly damaging	Het
Gm12695	G	A	4: 96,619,608 (GRCm39)	H423Y	probably damaging	Het
Gm6902	T	C	7: 22,973,243 (GRCm39)	T95A	probably benign	Het
Gpr155	G	T	2: 73,212,296 (GRCm39)	A109D	probably damaging	Het
Hsdl1	T	C	8: 120,294,711 (GRCm39)	D5G	probably damaging	Het
Hyal1	C	T	9: 107,455,628 (GRCm39)	P313S	probably damaging	Het
Igfn1	G	A	1: 135,902,527 (GRCm39)	T390M	probably damaging	Het
Irx1	C	A	13: 72,107,917 (GRCm39)	R255L	probably benign	Het
Itga2	T	A	13: 115,002,715 (GRCm39)	T592S	probably benign	Het
Kit	C	A	5: 75,769,982 (GRCm39)	S131R	probably benign	Het
Map1b	T	C	13: 99,568,390 (GRCm39)	T1444A	unknown	Het
Mapk8ip1	C	T	2: 92,219,496 (GRCm39)	E112K	probably benign	Het
Marveld3	T	C	8: 110,681,266 (GRCm39)	I210V	probably damaging	Het
Masp1	T	A	16: 23,295,068 (GRCm39)	I398L	probably benign	Het
Mmrn1	T	C	6: 60,953,309 (GRCm39)	I530T	probably benign	Het
Mtss2	A	G	8: 111,452,833 (GRCm39)	Y26C	probably damaging	Het
Myo5a	T	A	9: 75,067,747 (GRCm39)	S600R	probably benign	Het
Myo5a	A	G	9: 75,076,292 (GRCm39)	I836V	probably benign	Het
Naaladl1	A	G	19: 6,159,694 (GRCm39)	D375G	probably damaging	Het
Napepld	T	A	5: 21,888,263 (GRCm39)	D62V	possibly damaging	Het
Nedd9	A	C	13: 41,465,483 (GRCm39)	I719S	possibly damaging	Het
Nes	T	A	3: 87,882,923 (GRCm39)	M394K	probably benign	Het
Nlrc5	A	T	8: 95,231,772 (GRCm39)	Y1288F	possibly damaging	Het
Nlrp14	T	A	7: 106,791,782 (GRCm39)	C822*	probably null	Het
Noa1	A	C	5: 77,457,071 (GRCm39)	L278R	probably damaging	Het
Nop16	A	G	13: 54,737,889 (GRCm39)		probably benign	Het
Odr4	T	C	1: 150,268,659 (GRCm39)		probably benign	Het
Or11h7	A	T	14: 50,891,450 (GRCm39)	Y252F	probably benign	Het
Or5b12	A	G	19: 12,897,229 (GRCm39)	V148A	probably benign	Het
Osbpl10	C	T	9: 114,890,962 (GRCm39)	H117Y	probably benign	Het
Oxct1	A	T	15: 4,077,058 (GRCm39)	E130D	probably benign	Het
Padi2	A	G	4: 140,676,575 (GRCm39)	E571G	possibly damaging	Het
Pcdhac2	G	A	18: 37,278,717 (GRCm39)	V566M	probably benign	Het
Pdcd11	G	A	19: 47,086,659 (GRCm39)	E222K	possibly damaging	Het
Pira12	C	A	7: 3,897,204 (GRCm39)	C544F	probably damaging	Het
Plekha2	A	G	8: 25,578,356 (GRCm39)		probably null	Het
Pogz	T	C	3: 94,777,418 (GRCm39)	L366P	probably benign	Het
Ppp4r3b	A	G	11: 29,138,086 (GRCm39)	I145V	probably benign	Het
Prkcd	A	G	14: 30,320,407 (GRCm39)		probably null	Het
Ptprk	T	A	10: 28,468,853 (GRCm39)	H1438Q	probably damaging	Het
Rbm4	A	T	19: 4,842,650 (GRCm39)	V63E	possibly damaging	Het
Sbk2	T	A	7: 4,961,938 (GRCm39)	H116L	probably damaging	Het
Sdk1	A	G	5: 141,923,434 (GRCm39)	T352A	probably benign	Het
Septin9	T	A	11: 117,250,264 (GRCm39)	C529*	probably null	Het
Setx	T	A	2: 29,038,663 (GRCm39)	V1716D	probably benign	Het
Slc19a3	C	T	1: 82,997,162 (GRCm39)	V349I	probably benign	Het
Slc27a4	C	A	2: 29,695,722 (GRCm39)	R86S	probably benign	Het
Slc4a8	A	G	15: 100,696,059 (GRCm39)	H613R	possibly damaging	Het
Smoc2	A	G	17: 14,545,884 (GRCm39)	R58G	probably damaging	Het
Sphkap	T	A	1: 83,254,021 (GRCm39)	N1243Y	probably damaging	Het
Srsf5	T	C	12: 80,996,720 (GRCm39)	S261P	unknown	Het
Tab1	A	T	15: 80,042,999 (GRCm39)	T398S	possibly damaging	Het
Tas2r131	T	A	6: 132,934,705 (GRCm39)	T35S	probably benign	Het
Tasor2	T	C	13: 3,625,714 (GRCm39)	K1412R	possibly damaging	Het
Tigd4	T	A	3: 84,502,310 (GRCm39)	V409E	possibly damaging	Het
Tlr12	T	C	4: 128,510,501 (GRCm39)	Q583R	probably benign	Het
Tmprss9	T	A	10: 80,733,145 (GRCm39)	C894S	unknown	Het
Topaz1	T	A	9: 122,578,250 (GRCm39)	S387T	probably benign	Het
Tsfm	T	C	10: 126,847,558 (GRCm39)	R178G	probably benign	Het
Ttll13	T	C	7: 79,902,875 (GRCm39)	I181T	probably damaging	Het
Ttyh3	T	A	5: 140,610,896 (GRCm39)	K97N		Het
Ubr4	A	G	4: 139,142,394 (GRCm39)	E38G		Het
Unc5b	C	A	10: 60,601,020 (GRCm39)	M935I	probably benign	Het
Usp34	T	C	11: 23,362,314 (GRCm39)	S1606P		Het
Vmn1r195	T	C	13: 22,463,244 (GRCm39)	L238P	probably damaging	Het
Vmn2r85	T	A	10: 130,261,081 (GRCm39)	M419L	probably benign	Het
Washc2	G	T	6: 116,236,020 (GRCm39)	A1164S	probably benign	Het
Wdfy3	A	T	5: 102,042,940 (GRCm39)	M1937K	probably benign	Het
Wdfy3	A	T	5: 102,099,265 (GRCm39)	L261*	probably null	Het
Wdr64	A	T	1: 175,559,092 (GRCm39)	Y285F	probably benign	Het
Wtap	A	G	17: 13,199,797 (GRCm39)	L62P	probably damaging	Het
Zfp1007	A	C	5: 109,825,170 (GRCm39)	Y93*	probably null	Het
Zfp94	C	A	7: 24,002,498 (GRCm39)	V315F	probably benign	Het
Zhx1	A	T	15: 57,911,798 (GRCm39)		probably null	Het

Other mutations in Ugt2b37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Ugt2b37	APN	5	87,390,340 (GRCm39)	missense	possibly damaging	0.90
IGL00567:Ugt2b37	APN	5	87,401,933 (GRCm39)	missense	probably damaging	1.00
IGL00787:Ugt2b37	APN	5	87,390,288 (GRCm39)	missense	probably benign	0.00
IGL01560:Ugt2b37	APN	5	87,399,698 (GRCm39)	missense	probably damaging	1.00
IGL01617:Ugt2b37	APN	5	87,399,738 (GRCm39)	missense	probably damaging	1.00
IGL01982:Ugt2b37	APN	5	87,390,291 (GRCm39)	missense	probably damaging	1.00
IGL02299:Ugt2b37	APN	5	87,390,174 (GRCm39)	missense	probably benign	0.00
IGL02323:Ugt2b37	APN	5	87,398,423 (GRCm39)	splice site	probably benign
IGL02326:Ugt2b37	APN	5	87,388,861 (GRCm39)	missense	probably benign	0.25
IGL02516:Ugt2b37	APN	5	87,388,741 (GRCm39)	missense	probably damaging	1.00
IGL03285:Ugt2b37	APN	5	87,388,734 (GRCm39)	missense	probably damaging	1.00
R0076:Ugt2b37	UTSW	5	87,402,080 (GRCm39)	missense	probably benign	0.31
R0141:Ugt2b37	UTSW	5	87,388,842 (GRCm39)	missense	probably damaging	1.00
R0312:Ugt2b37	UTSW	5	87,398,524 (GRCm39)	missense	probably damaging	1.00
R0359:Ugt2b37	UTSW	5	87,398,443 (GRCm39)	missense	probably benign	0.10
R0523:Ugt2b37	UTSW	5	87,399,691 (GRCm39)	missense	possibly damaging	0.91
R1938:Ugt2b37	UTSW	5	87,388,716 (GRCm39)	missense	probably damaging	1.00
R1962:Ugt2b37	UTSW	5	87,402,193 (GRCm39)	missense	probably damaging	1.00
R2496:Ugt2b37	UTSW	5	87,402,569 (GRCm39)	missense	probably damaging	0.97
R3704:Ugt2b37	UTSW	5	87,390,846 (GRCm39)	missense	possibly damaging	0.55
R4430:Ugt2b37	UTSW	5	87,401,951 (GRCm39)	missense	probably benign	0.00
R4825:Ugt2b37	UTSW	5	87,398,498 (GRCm39)	missense	possibly damaging	0.91
R5043:Ugt2b37	UTSW	5	87,399,719 (GRCm39)	nonsense	probably null
R5098:Ugt2b37	UTSW	5	87,390,812 (GRCm39)	missense	probably damaging	1.00
R5174:Ugt2b37	UTSW	5	87,399,739 (GRCm39)	missense	probably benign	0.00
R5522:Ugt2b37	UTSW	5	87,388,759 (GRCm39)	missense	probably benign	0.14
R5879:Ugt2b37	UTSW	5	87,402,265 (GRCm39)	missense	probably benign
R5999:Ugt2b37	UTSW	5	87,402,036 (GRCm39)	missense	probably benign	0.25
R6374:Ugt2b37	UTSW	5	87,390,279 (GRCm39)	missense	probably damaging	1.00
R6454:Ugt2b37	UTSW	5	87,388,836 (GRCm39)	missense	probably damaging	1.00
R6857:Ugt2b37	UTSW	5	87,388,705 (GRCm39)	missense	probably damaging	0.98
R6875:Ugt2b37	UTSW	5	87,390,288 (GRCm39)	missense	probably benign	0.00
R6916:Ugt2b37	UTSW	5	87,402,459 (GRCm39)	missense	probably benign	0.07
R7099:Ugt2b37	UTSW	5	87,388,848 (GRCm39)	missense	probably benign	0.00
R7239:Ugt2b37	UTSW	5	87,402,590 (GRCm39)	missense	probably benign
R7470:Ugt2b37	UTSW	5	87,401,971 (GRCm39)	missense	probably benign	0.24
R7841:Ugt2b37	UTSW	5	87,398,489 (GRCm39)	missense	probably benign	0.05
R7860:Ugt2b37	UTSW	5	87,402,189 (GRCm39)	missense	probably damaging	1.00
R7861:Ugt2b37	UTSW	5	87,390,299 (GRCm39)	nonsense	probably null
R8200:Ugt2b37	UTSW	5	87,388,750 (GRCm39)	nonsense	probably null
R8211:Ugt2b37	UTSW	5	87,390,235 (GRCm39)	missense	probably benign	0.07
R8282:Ugt2b37	UTSW	5	87,402,440 (GRCm39)	missense	probably benign	0.01
R8312:Ugt2b37	UTSW	5	87,390,799 (GRCm39)	missense	probably benign	0.15
R8520:Ugt2b37	UTSW	5	87,388,714 (GRCm39)	missense	probably benign	0.04
R8688:Ugt2b37	UTSW	5	87,390,240 (GRCm39)	missense	possibly damaging	0.52
R8695:Ugt2b37	UTSW	5	87,390,243 (GRCm39)	missense	probably benign	0.00
R8772:Ugt2b37	UTSW	5	87,402,345 (GRCm39)	missense	probably benign	0.00
R8839:Ugt2b37	UTSW	5	87,402,415 (GRCm39)	missense	probably damaging	1.00
R9087:Ugt2b37	UTSW	5	87,401,996 (GRCm39)	missense	probably benign	0.01
R9139:Ugt2b37	UTSW	5	87,399,636 (GRCm39)	missense	probably benign	0.09
R9424:Ugt2b37	UTSW	5	87,402,217 (GRCm39)	missense	probably damaging	0.99
R9432:Ugt2b37	UTSW	5	87,402,046 (GRCm39)	missense	probably damaging	0.97
R9498:Ugt2b37	UTSW	5	87,402,244 (GRCm39)	missense	probably benign	0.07
R9711:Ugt2b37	UTSW	5	87,402,532 (GRCm39)	missense	possibly damaging	0.85
R9718:Ugt2b37	UTSW	5	87,390,802 (GRCm39)	missense	probably benign	0.11
R9783:Ugt2b37	UTSW	5	87,388,840 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTAGGCATCTGGAACCAAAAG -3'
(R):5'- GTGGACTTATGAGTTGTCAAGAGATAC -3'

Sequencing Primer
(F):5'- TCTGGAACCAAAAGTCAAAATAAAGC -3'
(R):5'- GAGTTGTCAAGAGATACATGTTTGTC -3'

Posted On

2019-11-26