Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Ugt2b37'

212550

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b37

Ensembl Gene

ENSMUSG00000057425

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B37

Synonyms

0610033E06Rik

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

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

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87388351-87402647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87402080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 184 (S184P)

Ref Sequence

ENSEMBL: ENSMUSP00000075255 (fasta)

Gene Model

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

AlphaFold

Q8VCN3

Predicted Effect

probably benign
Transcript: ENSMUST00000075858
AA Change: S184P

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075255
Gene: ENSMUSG00000057425
AA Change: S184P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.0%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	G	9: 104,201,417 (GRCm39)		probably benign	Het
Ankrd17	T	A	5: 90,392,265 (GRCm39)	K1693*	probably null	Het
Car10	G	A	11: 93,381,423 (GRCm39)	E129K	possibly damaging	Het
Ccnd1	A	C	7: 144,493,402 (GRCm39)	V10G	probably benign	Het
Cd19	T	C	7: 126,010,034 (GRCm39)	D406G	probably damaging	Het
Cfap91	G	A	16: 38,123,046 (GRCm39)	Q661*	probably null	Het
Col4a1	G	A	8: 11,268,713 (GRCm39)	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,276,578 (GRCm39)		probably null	Het
Crlf3	A	T	11: 79,947,427 (GRCm39)		probably benign	Het
Dock3	A	C	9: 106,788,685 (GRCm39)		probably benign	Het
Dus1l	A	T	11: 120,683,634 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,898,926 (GRCm39)	E438K	probably damaging	Het
Eif3g	A	G	9: 20,809,049 (GRCm39)	F85S	probably damaging	Het
Fam234b	A	G	6: 135,204,224 (GRCm39)	M456V	probably benign	Het
Fbxo47	G	A	11: 97,748,481 (GRCm39)		probably benign	Het
Galntl5	A	G	5: 25,391,070 (GRCm39)		probably null	Het
Gm11437	T	C	11: 84,039,462 (GRCm39)	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,260,448 (GRCm39)		noncoding transcript	Het
Gmfb	C	A	14: 47,054,912 (GRCm39)	A11S	probably benign	Het
Hnrnpa3	G	T	2: 75,492,040 (GRCm39)	R52L	probably damaging	Het
Ing3	T	C	6: 21,952,170 (GRCm39)	M48T	probably benign	Het
Kmt2a	A	G	9: 44,741,356 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,383 (GRCm39)		probably null	Het
Pex3	A	G	10: 13,411,338 (GRCm39)	V180A	probably benign	Het
Pou6f1	G	A	15: 100,485,717 (GRCm39)	Q106*	probably null	Het
Ror2	T	C	13: 53,267,110 (GRCm39)	M442V	probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Sec1	A	G	7: 45,328,315 (GRCm39)	V244A	probably damaging	Het
Serac1	A	G	17: 6,115,212 (GRCm39)		probably benign	Het
Sgcz	A	G	8: 38,012,596 (GRCm39)		probably benign	Het
Slc16a7	A	T	10: 125,063,939 (GRCm39)	V466D	probably benign	Het
Tbl1xr1	T	A	3: 22,243,949 (GRCm39)	D74E	probably benign	Het
Ube3b	G	T	5: 114,546,278 (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
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
R7810:Ugt2b37	UTSW	5	87,402,118 (GRCm39)	missense	probably damaging	1.00
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'- gcgcctggctCTGTTCCACTTTT -3'
(R):5'- ACAGACAGCTCATGACAAAGCTACAGGA -3'

Sequencing Primer
(F):5'- GCTAACCGAAATGTCTTCTATCAG -3'
(R):5'- GCTACAGGAATCAAAGTTTGATGTCC -3'

Posted On

2014-07-09