Mutagenetix > Incidental Mutation

Incidental Mutation 'R4790:Ugt1a10'

368401

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a10

Ensembl Gene

ENSMUSG00000090165

Gene Name

UDP glycosyltransferase 1 family, polypeptide A10

Synonyms

A13

MMRRC Submission

042418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R4790 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88055388-88219004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88056287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 269 (M269K)

Ref Sequence

ENSEMBL: ENSMUSP00000108767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113142] [ENSMUST00000138182] [ENSMUST00000173325]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000113142
AA Change: M269K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: M269K

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	521	7.3e-231	PFAM
Pfam:Glyco_tran_28_C	360	449	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138182

SMART Domains

Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	7e-11	PFAM
Pfam:UDPGT	58	207	1.9e-90	PFAM
Pfam:Glyco_tran_28_C	137	207	4.8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173165

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173325
AA Change: M70K

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165
AA Change: M70K

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	61	3.4e-10	PFAM
Pfam:UDPGT	59	210	8.9e-92	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	A	6: 48,930,552 (GRCm38)	I162N	probably damaging	Het
Abca5	T	G	11: 110,311,410 (GRCm38)	T390P	possibly damaging	Het
Acss3	A	T	10: 107,023,702 (GRCm38)	Y345*	probably null	Het
Adam26b	A	T	8: 43,520,727 (GRCm38)	S413T	probably benign	Het
Angpt2	T	A	8: 18,714,082 (GRCm38)	Q148L	probably damaging	Het
Ank3	T	A	10: 69,988,151 (GRCm38)	Y883*	probably null	Het
Ankrd52	A	G	10: 128,380,945 (GRCm38)	K190E	possibly damaging	Het
Anks1b	A	G	10: 90,163,275 (GRCm38)	R415G	probably damaging	Het
Ano3	T	A	2: 110,884,919 (GRCm38)	Q58L	probably benign	Het
Arhgap39	A	T	15: 76,726,731 (GRCm38)	M924K	possibly damaging	Het
AU040320	A	G	4: 126,847,215 (GRCm38)	M910V	possibly damaging	Het
BC051019	T	A	7: 109,716,346 (GRCm38)	H86L	probably benign	Het
C1qbp	G	A	11: 70,980,030 (GRCm38)	Q151*	probably null	Het
C4b	G	T	17: 34,734,143 (GRCm38)	D1069E	probably benign	Het
C77080	C	A	4: 129,223,302 (GRCm38)	R523L	probably damaging	Het
Casp1	C	T	9: 5,303,020 (GRCm38)	T158I	probably benign	Het
Casq1	T	C	1: 172,216,837 (GRCm38)	D141G	probably damaging	Het
Ccdc33	T	A	9: 58,029,957 (GRCm38)	E653V	probably damaging	Het
Cd180	C	T	13: 102,702,822 (GRCm38)	T71M	probably damaging	Het
Cdk4	T	C	10: 127,064,701 (GRCm38)	L112P	probably damaging	Het
Celf2	A	G	2: 6,549,903 (GRCm38)	F425S	probably damaging	Het
Chrm3	A	T	13: 9,877,662 (GRCm38)	V446E	probably benign	Het
Chst9	A	T	18: 15,453,050 (GRCm38)	L152H	probably damaging	Het
Cib2	A	G	9: 54,549,803 (GRCm38)		probably null	Het
Clec18a	T	C	8: 111,072,085 (GRCm38)	S366G	probably damaging	Het
Crebbp	A	G	16: 4,180,119 (GRCm38)	F34L	probably damaging	Het
Dapk1	AT	A	13: 60,723,105 (GRCm38)		probably null	Het
Ddi1	T	A	9: 6,265,761 (GRCm38)	M203L	probably benign	Het
Ddx20	G	T	3: 105,683,169 (GRCm38)	S270R	probably benign	Het
Epp13	A	T	7: 6,266,318 (GRCm38)	K31*	probably null	Het
Espnl	A	T	1: 91,344,424 (GRCm38)	E458V	probably damaging	Het
Fat3	T	C	9: 15,998,484 (GRCm38)	D2074G	probably damaging	Het
Fcf1	A	G	12: 84,974,128 (GRCm38)	T61A	probably benign	Het
Fkbp15	T	C	4: 62,307,997 (GRCm38)	R772G	probably benign	Het
Flnb	T	C	14: 7,905,661 (GRCm38)	V1137A	probably benign	Het
Fosb	C	A	7: 19,309,388 (GRCm38)	C15F	probably damaging	Het
Frem2	A	T	3: 53,516,741 (GRCm38)	W3092R	probably benign	Het
Gm3248	T	C	14: 5,945,831 (GRCm38)	I28V	probably damaging	Het
Gm4922	G	T	10: 18,784,168 (GRCm38)	L269I	possibly damaging	Het
Gucy2e	G	A	11: 69,228,448 (GRCm38)	R627W	probably damaging	Het
Hephl1	T	A	9: 15,059,171 (GRCm38)	E1009V	probably damaging	Het
Hsf4	A	T	8: 105,270,605 (GRCm38)	Q61L	probably damaging	Het
Itgam	T	A	7: 128,116,273 (GRCm38)	N1046K	probably benign	Het
Itgav	G	A	2: 83,755,810 (GRCm38)	C138Y	probably damaging	Het
Itih4	A	T	14: 30,889,910 (GRCm38)	Y157F	probably damaging	Het
Kcnt2	C	T	1: 140,354,516 (GRCm38)	R80C	probably damaging	Het
Kdm4b	G	A	17: 56,401,618 (GRCm38)	V986M	probably damaging	Het
Lamb3	T	A	1: 193,339,886 (GRCm38)	V1014D	probably damaging	Het
Lrrc74b	G	T	16: 17,549,853 (GRCm38)	N282K	probably damaging	Het
Map3k20	T	A	2: 72,441,704 (GRCm38)	H725Q	probably benign	Het
Mink1	A	G	11: 70,599,041 (GRCm38)	N81S	probably damaging	Het
Mmp21	A	G	7: 133,675,030 (GRCm38)	Y415H	probably damaging	Het
Mycbp2	A	T	14: 103,229,437 (GRCm38)	W1297R	probably damaging	Het
Myh8	T	C	11: 67,279,963 (GRCm38)	M95T	probably damaging	Het
Myo7b	A	T	18: 32,000,105 (GRCm38)		probably null	Het
Nanog	A	G	6: 122,707,915 (GRCm38)	M20V	probably benign	Het
Ncapd3	A	G	9: 27,051,850 (GRCm38)	I484V	probably benign	Het
Ndufa12	A	T	10: 94,220,758 (GRCm38)	N116I	probably benign	Het
Nedd4l	A	G	18: 65,203,945 (GRCm38)	I668V	possibly damaging	Het
Nobox	T	C	6: 43,305,546 (GRCm38)	D309G	probably benign	Het
Npnt	A	G	3: 132,890,762 (GRCm38)		probably benign	Het
Nrxn1	A	C	17: 90,455,049 (GRCm38)	Y2D	possibly damaging	Het
Obox6	G	T	7: 15,834,577 (GRCm38)	P125T	possibly damaging	Het
Ofcc1	G	A	13: 40,015,388 (GRCm38)	T841I	probably damaging	Het
Olfr1079	T	C	2: 86,538,880 (GRCm38)	T10A	possibly damaging	Het
Olfr1193	T	A	2: 88,678,387 (GRCm38)	N177K	possibly damaging	Het
Olfr1436	A	G	19: 12,298,941 (GRCm38)	Y64H	possibly damaging	Het
Olfr202	A	T	16: 59,284,458 (GRCm38)	V13D	probably damaging	Het
Olfr679	T	C	7: 105,086,637 (GRCm38)		probably benign	Het
Olfr697	C	G	7: 106,741,791 (GRCm38)	V48L	probably benign	Het
Olfr761	T	C	17: 37,952,742 (GRCm38)	Y94C	probably damaging	Het
Osm	A	T	11: 4,238,435 (GRCm38)	M21L	probably benign	Het
Otogl	T	A	10: 107,822,033 (GRCm38)		probably null	Het
Otud4	T	G	8: 79,666,773 (GRCm38)	S493A	possibly damaging	Het
Pars2	A	G	4: 106,651,111 (GRCm38)		probably benign	Het
Phlda3	T	A	1: 135,766,819 (GRCm38)	V124E	possibly damaging	Het
Pias4	T	C	10: 81,157,492 (GRCm38)	D199G	probably damaging	Het
Pm20d1	T	C	1: 131,812,039 (GRCm38)	L375P	probably benign	Het
Pole2	T	C	12: 69,226,365 (GRCm38)	I48V	probably benign	Het
Prrc2c	T	C	1: 162,710,481 (GRCm38)	R527G	unknown	Het
Rasgrf2	G	T	13: 91,988,016 (GRCm38)	N592K	probably damaging	Het
Rbm7	A	G	9: 48,495,174 (GRCm38)	L26P	probably damaging	Het
Rhag	A	G	17: 40,831,290 (GRCm38)	H208R	probably benign	Het
Rnf17	A	G	14: 56,434,355 (GRCm38)	E268G	probably damaging	Het
Rnf220	A	G	4: 117,289,055 (GRCm38)	V23A	probably benign	Het
Rnf7	A	T	9: 96,478,419 (GRCm38)	V55D	probably damaging	Het
Sdr9c7	C	A	10: 127,903,579 (GRCm38)	R188S	possibly damaging	Het
Senp6	T	A	9: 80,089,858 (GRCm38)	N51K	probably benign	Het
Skint3	C	A	4: 112,255,898 (GRCm38)	T235K	possibly damaging	Het
Slc10a5	A	G	3: 10,335,036 (GRCm38)	F188S	probably damaging	Het
Slc41a1	G	A	1: 131,830,952 (GRCm38)	G111R	probably damaging	Het
Smarca1	T	C	X: 47,884,067 (GRCm38)	D132G	probably null	Het
Snrnp48	C	T	13: 38,221,323 (GRCm38)	R299W	probably damaging	Het
Sspo	G	A	6: 48,460,771 (GRCm38)	G1413D	probably benign	Het
Star	T	A	8: 25,808,616 (GRCm38)	H16Q	probably damaging	Het
Strc	T	C	2: 121,375,594 (GRCm38)	D779G	probably benign	Het
Sulf2	T	C	2: 166,089,295 (GRCm38)	Y264C	probably damaging	Het
Supt7l	A	G	5: 31,522,904 (GRCm38)	S6P	possibly damaging	Het
Syne2	A	G	12: 76,020,391 (GRCm38)	D4289G	probably benign	Het
Szrd1	A	T	4: 141,139,690 (GRCm38)		probably null	Het
Tada1	T	C	1: 166,391,954 (GRCm38)	V275A	possibly damaging	Het
Tbr1	A	T	2: 61,811,588 (GRCm38)	Y136F	probably benign	Het
Tbx20	T	A	9: 24,725,714 (GRCm38)	H359L	probably benign	Het
Thbs4	G	T	13: 92,762,806 (GRCm38)	D560E	probably damaging	Het
Tnfsf14	T	C	17: 57,190,740 (GRCm38)	H164R	probably damaging	Het
Trmu	T	C	15: 85,882,805 (GRCm38)	S72P	probably damaging	Het
Tsnaxip1	C	A	8: 105,833,523 (GRCm38)	Q36K	probably benign	Het
Ttc28	T	A	5: 111,224,217 (GRCm38)	M844K	possibly damaging	Het
Tubgcp2	T	C	7: 139,999,288 (GRCm38)	Y695C	probably damaging	Het
Urb1	A	T	16: 90,769,555 (GRCm38)	L1448*	probably null	Het
Vmn2r124	A	T	17: 18,049,593 (GRCm38)	H37L	probably damaging	Het
Vmn2r44	T	C	7: 8,367,950 (GRCm38)	N699S	probably damaging	Het
Vps35	A	T	8: 85,278,857 (GRCm38)		probably null	Het
Yipf1	G	T	4: 107,336,199 (GRCm38)		probably null	Het
Zfp395	A	G	14: 65,386,541 (GRCm38)	N153S	possibly damaging	Het
Zfp395	A	G	14: 65,393,207 (GRCm38)	D402G	probably damaging	Het
Zfp652	T	C	11: 95,749,609 (GRCm38)	V120A	probably damaging	Het
Zp3r	T	C	1: 130,582,892 (GRCm38)	I364M	probably damaging	Het

Other mutations in Ugt1a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Ugt1a10	APN	1	88,055,987 (GRCm38)	missense	possibly damaging	0.72
IGL02219:Ugt1a10	APN	1	88,056,058 (GRCm38)	missense	probably benign	0.00
IGL02511:Ugt1a10	APN	1	88,055,863 (GRCm38)	missense	probably damaging	1.00
IGL02990:Ugt1a10	APN	1	88,055,879 (GRCm38)	missense	probably damaging	1.00
PIT4142001:Ugt1a10	UTSW	1	88,216,158 (GRCm38)	small deletion	probably benign
R0201:Ugt1a10	UTSW	1	88,218,249 (GRCm38)	missense	probably damaging	1.00
R0201:Ugt1a10	UTSW	1	88,215,123 (GRCm38)	missense	probably damaging	1.00
R0522:Ugt1a10	UTSW	1	88,218,249 (GRCm38)	missense	probably damaging	1.00
R0525:Ugt1a10	UTSW	1	88,218,249 (GRCm38)	missense	probably damaging	1.00
R0554:Ugt1a10	UTSW	1	88,056,095 (GRCm38)	missense	probably damaging	1.00
R0748:Ugt1a10	UTSW	1	88,215,123 (GRCm38)	missense	probably damaging	1.00
R0811:Ugt1a10	UTSW	1	88,056,182 (GRCm38)	missense	probably benign	0.33
R0812:Ugt1a10	UTSW	1	88,056,182 (GRCm38)	missense	probably benign	0.33
R1129:Ugt1a10	UTSW	1	88,055,609 (GRCm38)	missense	probably benign
R1207:Ugt1a10	UTSW	1	88,216,254 (GRCm38)	missense	probably damaging	1.00
R1432:Ugt1a10	UTSW	1	88,216,260 (GRCm38)	missense	probably damaging	1.00
R1457:Ugt1a10	UTSW	1	88,055,711 (GRCm38)	missense	probably damaging	1.00
R1469:Ugt1a10	UTSW	1	88,216,254 (GRCm38)	missense	probably damaging	1.00
R1972:Ugt1a10	UTSW	1	88,056,047 (GRCm38)	missense	probably damaging	1.00
R1973:Ugt1a10	UTSW	1	88,056,047 (GRCm38)	missense	probably damaging	1.00
R2039:Ugt1a10	UTSW	1	88,055,981 (GRCm38)	missense	probably benign	0.32
R2307:Ugt1a10	UTSW	1	88,055,947 (GRCm38)	missense	probably benign	0.01
R3952:Ugt1a10	UTSW	1	88,216,140 (GRCm38)	missense	probably damaging	1.00
R3973:Ugt1a10	UTSW	1	88,216,140 (GRCm38)	missense	probably damaging	1.00
R4232:Ugt1a10	UTSW	1	88,056,210 (GRCm38)	missense	probably benign	0.39
R4392:Ugt1a10	UTSW	1	88,215,123 (GRCm38)	missense	probably damaging	1.00
R4393:Ugt1a10	UTSW	1	88,215,123 (GRCm38)	missense	probably damaging	1.00
R4402:Ugt1a10	UTSW	1	88,215,123 (GRCm38)	missense	probably damaging	1.00
R4417:Ugt1a10	UTSW	1	88,055,995 (GRCm38)	missense	probably benign
R4474:Ugt1a10	UTSW	1	88,215,928 (GRCm38)	intron	probably benign
R4476:Ugt1a10	UTSW	1	88,215,928 (GRCm38)	intron	probably benign
R4515:Ugt1a10	UTSW	1	88,056,197 (GRCm38)	missense	probably damaging	1.00
R4579:Ugt1a10	UTSW	1	88,056,116 (GRCm38)	missense	probably benign
R4582:Ugt1a10	UTSW	1	88,055,741 (GRCm38)	missense	possibly damaging	0.90
R4609:Ugt1a10	UTSW	1	88,055,482 (GRCm38)	start codon destroyed	possibly damaging	0.92
R4627:Ugt1a10	UTSW	1	88,218,390 (GRCm38)	missense	probably damaging	1.00
R4799:Ugt1a10	UTSW	1	88,215,928 (GRCm38)	intron	probably benign
R4910:Ugt1a10	UTSW	1	88,215,123 (GRCm38)	missense	probably damaging	1.00
R4915:Ugt1a10	UTSW	1	88,055,924 (GRCm38)	missense	probably damaging	1.00
R5110:Ugt1a10	UTSW	1	88,056,252 (GRCm38)	splice site	probably null
R5168:Ugt1a10	UTSW	1	88,055,809 (GRCm38)	missense	probably benign	0.01
R5329:Ugt1a10	UTSW	1	88,216,254 (GRCm38)	missense	probably damaging	1.00
R5373:Ugt1a10	UTSW	1	88,055,910 (GRCm38)	missense	probably damaging	0.98
R5374:Ugt1a10	UTSW	1	88,055,910 (GRCm38)	missense	probably damaging	0.98
R5615:Ugt1a10	UTSW	1	88,216,158 (GRCm38)	small deletion	probably benign
R6498:Ugt1a10	UTSW	1	88,216,140 (GRCm38)	missense	probably damaging	1.00
R6727:Ugt1a10	UTSW	1	88,056,257 (GRCm38)	splice site	probably null
R6809:Ugt1a10	UTSW	1	88,055,925 (GRCm38)	missense	probably damaging	0.98
R6924:Ugt1a10	UTSW	1	88,055,657 (GRCm38)	missense	probably damaging	0.99
R6967:Ugt1a10	UTSW	1	88,215,123 (GRCm38)	missense	probably damaging	1.00
R7913:Ugt1a10	UTSW	1	88,055,755 (GRCm38)	missense	probably benign	0.00
R9165:Ugt1a10	UTSW	1	88,055,787 (GRCm38)	missense	probably benign	0.00
R9264:Ugt1a10	UTSW	1	88,055,671 (GRCm38)	missense	possibly damaging	0.62
R9475:Ugt1a10	UTSW	1	88,216,260 (GRCm38)	missense	probably damaging	1.00
S24628:Ugt1a10	UTSW	1	88,216,158 (GRCm38)	small deletion	probably benign
X0013:Ugt1a10	UTSW	1	88,216,254 (GRCm38)	missense	probably damaging	1.00
Z1088:Ugt1a10	UTSW	1	88,055,842 (GRCm38)	missense	probably benign	0.20
Z1190:Ugt1a10	UTSW	1	88,216,158 (GRCm38)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CATGACTTTCAAGGAGAGAGTGTG -3'
(R):5'- AGTCACCTATATGGAATTCTTCTCC -3'

Sequencing Primer
(F):5'- GAGAGTGTGGAACCATTATATGTAC -3'
(R):5'- TATTGTCCAAAGCTAGAGC -3'

Posted On

2016-02-04