Mutagenetix > Incidental Mutation

Incidental Mutation 'R8191:Ugt2b35'

635147

Institutional Source

Beutler Lab

Gene Symbol

Ugt2b35

Ensembl Gene

ENSMUSG00000035811

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B35

Synonyms

MMRRC Submission

067614-MU

Accession Numbers

Essential gene?

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

Stock #

R8191 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87148719-87161133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87149302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 184 (S184R)

Ref Sequence

ENSEMBL: ENSMUSP00000031186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031186]

AlphaFold

Q8BJL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031186
AA Change: S184R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031186
Gene: ENSMUSG00000035811
AA Change: S184R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	526	1e-253	PFAM
Pfam:Glyco_tran_28_C	338	449	1.9e-8	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	G	A	16: 3,724,918 (GRCm39)	R49W	probably damaging	Het
Adamts4	T	C	1: 171,080,292 (GRCm39)	S282P		Het
Aqp4	A	G	18: 15,531,222 (GRCm39)	S180P	probably benign	Het
Armc2	T	G	10: 41,839,747 (GRCm39)	E406A	probably benign	Het
Atp13a3	A	T	16: 30,168,598 (GRCm39)	Y464N	probably damaging	Het
B3gnt3	C	A	8: 72,146,122 (GRCm39)	V136L	probably benign	Het
Cacna1s	C	T	1: 136,035,893 (GRCm39)	H1378Y	probably damaging	Het
Ccnk	A	T	12: 108,159,933 (GRCm39)	E138D	probably benign	Het
Cenpe	A	G	3: 134,957,375 (GRCm39)	K1878E	probably benign	Het
Cep57l1	T	A	10: 41,616,955 (GRCm39)	I111L	probably damaging	Het
Cfap298	G	T	16: 90,727,889 (GRCm39)	N100K	probably damaging	Het
Copg2	T	C	6: 30,790,665 (GRCm39)	I509V	probably benign	Het
Cux2	T	A	5: 122,012,217 (GRCm39)	D406V	probably benign	Het
Cyp2a12	G	T	7: 26,730,529 (GRCm39)	A165S	probably benign	Het
Dnaaf5	T	G	5: 139,167,250 (GRCm39)	S719A	probably benign	Het
Dnah7c	A	G	1: 46,646,618 (GRCm39)	I1220V	possibly damaging	Het
Dnai3	G	T	3: 145,800,066 (GRCm39)	P158H	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dusp10	T	A	1: 183,769,749 (GRCm39)	D238E	possibly damaging	Het
Dync1li1	C	A	9: 114,538,253 (GRCm39)	D203E	probably benign	Het
Ecpas	A	T	4: 58,872,587 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,075,283 (GRCm39)	S587P	probably damaging	Het
Ephb2	G	A	4: 136,386,256 (GRCm39)	T832I	probably damaging	Het
Exoc1	T	A	5: 76,707,674 (GRCm39)		probably null	Het
Fam193a	T	A	5: 34,597,917 (GRCm39)	N571K	probably damaging	Het
Fem1a	T	A	17: 56,565,356 (GRCm39)	I483N	probably damaging	Het
Fgf20	C	A	8: 40,761,361 (GRCm39)		probably benign	Het
Fkbp1a	C	T	2: 151,399,356 (GRCm39)	P98S		Het
Gpsm3	A	T	17: 34,809,451 (GRCm39)	D19V	probably benign	Het
Ido2	C	A	8: 25,023,696 (GRCm39)	G381W	probably damaging	Het
Ifi204	T	C	1: 173,579,226 (GRCm39)	T540A	possibly damaging	Het
Isl1	A	T	13: 116,441,954 (GRCm39)	M93K	probably benign	Het
Map3k10	T	A	7: 27,362,671 (GRCm39)	S472C	probably damaging	Het
Mcrs1	A	T	15: 99,141,206 (GRCm39)	V432E	probably damaging	Het
Metap2	A	G	10: 93,701,267 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,421,421 (GRCm39)	S4304G	probably benign	Het
Myef2l	G	T	3: 10,153,914 (GRCm39)	V228F	probably damaging	Het
Nell1	T	C	7: 50,098,622 (GRCm39)	V308A	unknown	Het
Or10g1b	A	G	14: 52,627,987 (GRCm39)	V81A	probably benign	Het
Or4d5	A	T	9: 40,012,767 (GRCm39)	H6Q	probably benign	Het
Plxna4	C	A	6: 32,493,885 (GRCm39)	V244F	possibly damaging	Het
Pnpla6	T	C	8: 3,592,382 (GRCm39)	S1224P	probably benign	Het
Ripk4	A	G	16: 97,564,726 (GRCm39)		probably benign	Het
Rnpep	T	C	1: 135,200,172 (GRCm39)	E261G	possibly damaging	Het
Robo1	C	A	16: 72,730,142 (GRCm39)	S194R	probably damaging	Het
Rpusd1	C	G	17: 25,947,611 (GRCm39)	Y99*	probably null	Het
Scarf1	T	C	11: 75,413,065 (GRCm39)	M437T	probably benign	Het
Sh3tc2	G	T	18: 62,106,429 (GRCm39)	D153Y	probably damaging	Het
Siglec1	T	C	2: 130,927,599 (GRCm39)	Y69C	probably damaging	Het
Slc25a34	T	C	4: 141,347,895 (GRCm39)	Y262C	probably damaging	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
St6galnac2	T	C	11: 116,572,748 (GRCm39)	Y236C	probably damaging	Het
Stac3	T	A	10: 127,344,068 (GRCm39)	I322N	probably damaging	Het
Tcaf1	T	C	6: 42,652,190 (GRCm39)	Q764R	probably damaging	Het
Tcf20	G	A	15: 82,737,606 (GRCm39)	R1282*	probably null	Het
Tlr2	T	A	3: 83,743,821 (GRCm39)	K754M	probably damaging	Het
Tlr2	T	G	3: 83,743,822 (GRCm39)	K754Q	probably damaging	Het
Tnn	C	T	1: 159,953,088 (GRCm39)	V651M	probably damaging	Het
Ttn	T	C	2: 76,701,083 (GRCm39)	H9622R	unknown	Het
Tubgcp6	C	T	15: 89,004,843 (GRCm39)	G259S	probably damaging	Het
Ubr5	C	A	15: 38,006,751 (GRCm39)	C1174F		Het
Vit	C	T	17: 78,853,828 (GRCm39)	H25Y	probably benign	Het
Vmn1r177	G	A	7: 23,565,736 (GRCm39)	Q47*	probably null	Het
Vmn2r104	A	T	17: 20,250,465 (GRCm39)	V602D	possibly damaging	Het
Vmn2r115	A	G	17: 23,578,530 (GRCm39)	T668A	probably damaging	Het
Vmn2r125	T	G	4: 156,703,709 (GRCm39)	C362W	probably damaging	Het
Vwa7	A	G	17: 35,238,712 (GRCm39)	T267A	probably damaging	Het
Xpa	C	A	4: 46,183,225 (GRCm39)	R188L	possibly damaging	Het
Zfp143	C	T	7: 109,676,364 (GRCm39)	T249I	probably damaging	Het
Zfp607a	A	G	7: 27,578,868 (GRCm39)	E646G	possibly damaging	Het
Zfp729a	A	T	13: 67,769,838 (GRCm39)	S130R	probably benign	Het
Zswim3	C	A	2: 164,662,128 (GRCm39)	Q203K	probably damaging	Het

Other mutations in Ugt2b35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Ugt2b35	APN	5	87,156,051 (GRCm39)	missense	probably benign	0.00
IGL01109:Ugt2b35	APN	5	87,156,165 (GRCm39)	missense	probably damaging	1.00
IGL01586:Ugt2b35	APN	5	87,159,250 (GRCm39)	missense	probably benign	0.07
IGL02151:Ugt2b35	APN	5	87,151,141 (GRCm39)	missense	possibly damaging	0.65
IGL02225:Ugt2b35	APN	5	87,155,264 (GRCm39)	splice site	probably benign
IGL02483:Ugt2b35	APN	5	87,149,004 (GRCm39)	missense	possibly damaging	0.87
IGL02504:Ugt2b35	APN	5	87,149,400 (GRCm39)	missense	possibly damaging	0.50
IGL02690:Ugt2b35	APN	5	87,149,096 (GRCm39)	missense	probably benign	0.01
IGL02954:Ugt2b35	APN	5	87,159,180 (GRCm39)	missense	probably benign	0.00
IGL03242:Ugt2b35	APN	5	87,155,254 (GRCm39)	missense	probably damaging	1.00
R0329:Ugt2b35	UTSW	5	87,151,264 (GRCm39)	missense	probably null	0.38
R0513:Ugt2b35	UTSW	5	87,151,271 (GRCm39)	splice site	probably benign
R0571:Ugt2b35	UTSW	5	87,148,793 (GRCm39)	missense	possibly damaging	0.51
R0827:Ugt2b35	UTSW	5	87,155,989 (GRCm39)	splice site	probably benign
R1396:Ugt2b35	UTSW	5	87,159,389 (GRCm39)	missense	possibly damaging	0.56
R1437:Ugt2b35	UTSW	5	87,148,890 (GRCm39)	missense	probably benign	0.02
R1557:Ugt2b35	UTSW	5	87,155,156 (GRCm39)	splice site	probably null
R1869:Ugt2b35	UTSW	5	87,149,147 (GRCm39)	missense	probably damaging	1.00
R1937:Ugt2b35	UTSW	5	87,149,141 (GRCm39)	missense	probably damaging	1.00
R2067:Ugt2b35	UTSW	5	87,149,412 (GRCm39)	missense	probably damaging	1.00
R2219:Ugt2b35	UTSW	5	87,151,191 (GRCm39)	missense	possibly damaging	0.81
R3055:Ugt2b35	UTSW	5	87,149,457 (GRCm39)	missense	probably benign	0.05
R3793:Ugt2b35	UTSW	5	87,149,465 (GRCm39)	missense	probably benign	0.15
R4452:Ugt2b35	UTSW	5	87,151,237 (GRCm39)	missense	probably damaging	0.99
R4548:Ugt2b35	UTSW	5	87,156,134 (GRCm39)	nonsense	probably null
R4902:Ugt2b35	UTSW	5	87,151,159 (GRCm39)	missense	possibly damaging	0.89
R5311:Ugt2b35	UTSW	5	87,159,139 (GRCm39)	nonsense	probably null
R6187:Ugt2b35	UTSW	5	87,155,181 (GRCm39)	missense	probably damaging	0.98
R6332:Ugt2b35	UTSW	5	87,149,415 (GRCm39)	missense	probably damaging	1.00
R6719:Ugt2b35	UTSW	5	87,155,247 (GRCm39)	missense	probably damaging	1.00
R7211:Ugt2b35	UTSW	5	87,149,177 (GRCm39)	missense	probably benign	0.39
R7652:Ugt2b35	UTSW	5	87,149,369 (GRCm39)	missense	probably damaging	0.99
R7766:Ugt2b35	UTSW	5	87,149,061 (GRCm39)	missense	possibly damaging	0.94
R7825:Ugt2b35	UTSW	5	87,149,218 (GRCm39)	nonsense	probably null
R8188:Ugt2b35	UTSW	5	87,149,302 (GRCm39)	missense	probably damaging	0.98
R8189:Ugt2b35	UTSW	5	87,149,302 (GRCm39)	missense	probably damaging	0.98
R8192:Ugt2b35	UTSW	5	87,149,302 (GRCm39)	missense	probably damaging	0.98
R8193:Ugt2b35	UTSW	5	87,149,302 (GRCm39)	missense	probably damaging	0.98
R8220:Ugt2b35	UTSW	5	87,149,302 (GRCm39)	missense	probably damaging	0.98
R8288:Ugt2b35	UTSW	5	87,149,316 (GRCm39)	missense	probably damaging	1.00
R8695:Ugt2b35	UTSW	5	87,156,064 (GRCm39)	missense	probably damaging	0.97
R8898:Ugt2b35	UTSW	5	87,159,189 (GRCm39)	missense	possibly damaging	0.53
R8924:Ugt2b35	UTSW	5	87,152,780 (GRCm39)	missense	possibly damaging	0.73
R8944:Ugt2b35	UTSW	5	87,149,310 (GRCm39)	missense	probably benign	0.21
R9284:Ugt2b35	UTSW	5	87,156,140 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCTAAGTCTTTGTAAGGAAGCTG -3'
(R):5'- TGTGTAGCTAGGGATATCAAGC -3'

Sequencing Primer
(F):5'- GTCTTTGTAAGGAAGCTGTTTCAAAC -3'
(R):5'- GTAGCTAGGGATATCAAGCTACTAAG -3'

Posted On

2020-07-13