Mutagenetix > Incidental Mutation

Incidental Mutation 'R6374:Ugt2b37'

513680

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b37

Ensembl Gene

ENSMUSG00000057425

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B37

Synonyms

0610033E06Rik

MMRRC Submission

044524-MU

Accession Numbers

Essential gene?

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

Stock #

R6374 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87388351-87402647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87390279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 389 (I389N)

Ref Sequence

ENSEMBL: ENSMUSP00000075255 (fasta)

Gene Model

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

AlphaFold

Q8VCN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000075858
AA Change: I389N

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

SMART Domains

Protein: ENSMUSP00000075255
Gene: ENSMUSG00000057425
AA Change: I389N

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

0.5769

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,800 (GRCm39)	S293A	possibly damaging	Het
5430401F13Rik	A	T	6: 131,529,892 (GRCm39)	Q162L	unknown	Het
Abca8a	A	T	11: 109,974,216 (GRCm39)	Y239*	probably null	Het
Aox3	T	C	1: 58,211,320 (GRCm39)	I959T	probably benign	Het
Atad2b	T	C	12: 5,068,002 (GRCm39)	V1000A	probably damaging	Het
Atic	C	T	1: 71,604,100 (GRCm39)	T221M	probably damaging	Het
Atp1a2	C	T	1: 172,116,942 (GRCm39)	R225H	probably damaging	Het
BC024139	A	G	15: 76,004,657 (GRCm39)		probably null	Het
Bpi	A	T	2: 158,113,974 (GRCm39)	T291S	probably damaging	Het
Ccdc170	C	T	10: 4,499,746 (GRCm39)	Q556*	probably null	Het
Cd3e	G	A	9: 44,920,661 (GRCm39)	L12F	probably benign	Het
Cdc42ep1	A	T	15: 78,731,649 (GRCm39)	R31S	probably damaging	Het
Cyp21a1	G	T	17: 35,023,110 (GRCm39)		probably null	Het
Dnase1l3	A	G	14: 7,974,115 (GRCm38)	M192T	probably damaging	Het
Dnmt1	A	T	9: 20,835,341 (GRCm39)	H330Q	possibly damaging	Het
Enah	T	C	1: 181,751,145 (GRCm39)	E232G	unknown	Het
Etnppl	C	T	3: 130,414,342 (GRCm39)	T73I	probably damaging	Het
Fam83b	T	A	9: 76,400,189 (GRCm39)	I305F	probably benign	Het
Galnt15	T	A	14: 31,780,116 (GRCm39)	I471N	probably damaging	Het
Gm19965	T	A	1: 116,750,021 (GRCm39)	N567K	probably benign	Het
Golga1	T	C	2: 38,924,080 (GRCm39)	Q435R	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hao1	T	G	2: 134,365,024 (GRCm39)	D201A	probably benign	Het
Heg1	T	C	16: 33,547,499 (GRCm39)	L786P	possibly damaging	Het
Hnrnpll	A	T	17: 80,357,303 (GRCm39)	C238S	possibly damaging	Het
Hrg	A	G	16: 22,779,742 (GRCm39)	Y340C	probably damaging	Het
Kyat3	A	T	3: 142,443,998 (GRCm39)	I411F	probably damaging	Het
Myo1a	T	C	10: 127,543,549 (GRCm39)	Y202H	probably damaging	Het
Nags	T	C	11: 102,037,337 (GRCm39)	C143R	possibly damaging	Het
Ncoa6	T	C	2: 155,263,076 (GRCm39)	N453D	probably damaging	Het
Nup35	G	T	2: 80,488,730 (GRCm39)	M322I	probably benign	Het
Oprl1	T	C	2: 181,357,721 (GRCm39)	V69A	probably damaging	Het
Or51v14	A	G	7: 103,261,128 (GRCm39)	L144P	probably benign	Het
Pappa2	T	A	1: 158,784,215 (GRCm39)	Y265F	probably damaging	Het
Pcsk6	C	T	7: 65,629,903 (GRCm39)	P343L	possibly damaging	Het
Peak1	C	A	9: 56,164,950 (GRCm39)	D993Y	probably damaging	Het
Polr2a	T	C	11: 69,627,758 (GRCm39)	Y1383C	probably damaging	Het
Ppme1	A	G	7: 99,990,272 (GRCm39)	S226P	probably damaging	Het
Prom1	C	T	5: 44,213,325 (GRCm39)	C127Y	probably damaging	Het
Ptpn6	A	T	6: 124,709,532 (GRCm39)		probably null	Het
Reln	T	C	5: 22,285,712 (GRCm39)	E419G	probably benign	Het
Rnf32	C	T	5: 29,430,266 (GRCm39)	Q362*	probably null	Het
Sbspon	T	C	1: 15,953,887 (GRCm39)	D131G	probably benign	Het
Scyl3	T	C	1: 163,776,783 (GRCm39)	S392P	probably benign	Het
Shtn1	T	A	19: 59,026,728 (GRCm39)	D121V	possibly damaging	Het
Sin3a	A	G	9: 57,024,765 (GRCm39)	T1042A	probably benign	Het
Sipa1l2	A	T	8: 126,171,369 (GRCm39)	V1371D	probably damaging	Het
Slc20a2	T	C	8: 23,055,668 (GRCm39)	V584A	possibly damaging	Het
Smc6	T	A	12: 11,355,874 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,124,731 (GRCm39)		probably benign	Het
Specc1	C	T	11: 62,047,418 (GRCm39)	T849I	possibly damaging	Het
Spta1	T	A	1: 174,041,734 (GRCm39)	L1368H	probably damaging	Het
Sqle	A	G	15: 59,187,959 (GRCm39)	E89G	possibly damaging	Het
Strbp	A	G	2: 37,493,020 (GRCm39)	V422A	probably damaging	Het
Sult6b1	G	T	17: 79,214,360 (GRCm39)	T21K	probably benign	Het
Tex15	A	G	8: 34,065,940 (GRCm39)	E1790G	probably damaging	Het
Tmem88b	T	A	4: 155,870,221 (GRCm39)		probably benign	Het
Traf3ip3	T	C	1: 192,864,318 (GRCm39)	D355G	possibly damaging	Het
Trim24	T	A	6: 37,930,484 (GRCm39)	V576E	probably benign	Het
Trim30c	C	T	7: 104,039,609 (GRCm39)	G62D	probably benign	Het
Trim66	T	G	7: 109,085,269 (GRCm39)	K100N	probably benign	Het
Tsnaxip1	A	T	8: 106,568,172 (GRCm39)	T313S	possibly damaging	Het
Unc13a	C	T	8: 72,094,097 (GRCm39)	V1335M	possibly damaging	Het
Urah	A	G	7: 140,415,124 (GRCm39)	T5A	probably benign	Het
Usp34	T	C	11: 23,388,914 (GRCm39)	Y2185H	probably damaging	Het
Usp44	T	C	10: 93,692,172 (GRCm39)	S643P	probably benign	Het
Vars2	A	G	17: 35,970,937 (GRCm39)	V631A	probably damaging	Het
Vmn2r11	G	A	5: 109,201,679 (GRCm39)	T275I	possibly damaging	Het
Vmn2r54	C	A	7: 12,349,420 (GRCm39)	V721F	probably damaging	Het
Vmn2r79	T	C	7: 86,651,498 (GRCm39)	I299T	probably benign	Het
Vps13d	T	C	4: 144,849,251 (GRCm39)	T2387A	probably damaging	Het
Washc5	A	T	15: 59,209,044 (GRCm39)	L610Q	probably benign	Het
Zbtb21	T	C	16: 97,751,568 (GRCm39)	E905G	probably damaging	Het
Zfhx4	A	G	3: 5,309,095 (GRCm39)	T774A	probably damaging	Het
Zfp534	T	C	4: 147,759,299 (GRCm39)	I457V	probably benign	Het
Zfp964	T	C	8: 70,111,994 (GRCm39)	Y29H	possibly damaging	Het
Znrf4	A	G	17: 56,818,702 (GRCm39)	F202L	probably damaging	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
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'- TGTTTGGCTTTCAGTAAGAAGACAC -3'
(R):5'- TAGATTCTTCTAGCTCTGAGACAGAG -3'

Sequencing Primer
(F):5'- AGCACATCTGACCTTGAC -3'
(R):5'- CTGAGACAGAGAAATATTTCAGTGAG -3'

Posted On

2018-04-27