Mutagenetix > Incidental Mutation

Incidental Mutation 'R1432:Ugt1a10'

254686

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a10

Ensembl Gene

ENSMUSG00000090165

Gene Name

UDP glycosyltransferase 1 family, polypeptide A10

Synonyms

A13

MMRRC Submission

039487-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R1432 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

88055388-88219004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88216260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 201 (R201C)

Ref Sequence

ENSEMBL: ENSMUSP00000134443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073049] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000113137] [ENSMUST00000113138] [ENSMUST00000113139] [ENSMUST00000113142] [ENSMUST00000138182] [ENSMUST00000140092] [ENSMUST00000150634] [ENSMUST00000173325] [ENSMUST00000126203]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000014263
AA Change: R401C

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

SMART Domains

Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545
AA Change: R401C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.2e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	1e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000049289
AA Change: R403C

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

SMART Domains

Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171
AA Change: R403C

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:UDPGT	28	524	2.2e-247	PFAM
Pfam:Glyco_tran_28_C	363	452	4.5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000058237
AA Change: R401C

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

SMART Domains

Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: R401C

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	522	1.5e-234	PFAM
Pfam:Glyco_tran_28_C	361	450	4.5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000073049
AA Change: R405C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072803
Gene: ENSMUSG00000089960
AA Change: R405C

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:UDPGT	30	526	5.8e-241	PFAM
Pfam:Glyco_tran_28_C	365	454	4.5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000073772
AA Change: R398C

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

SMART Domains

Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175
AA Change: R398C

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	519	2.3e-232	PFAM
Pfam:Glyco_tran_28_C	358	447	4.5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097659
AA Change: R399C

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

SMART Domains

Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943
AA Change: R399C

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:UDPGT	25	520	6.7e-246	PFAM
Pfam:Glyco_tran_28_C	359	448	1.3e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113134
AA Change: R401C

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

SMART Domains

Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
AA Change: R401C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	2.7e-232	PFAM
Pfam:Glyco_tran_28_C	361	450	4.5e-9	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124
AA Change: R401C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.2e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	1e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113137
AA Change: R401C

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

SMART Domains

Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145
AA Change: R401C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.3e-231	PFAM
Pfam:Glyco_tran_28_C	361	450	2.8e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113138
AA Change: R401C

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

SMART Domains

Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145
AA Change: R401C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	7.3e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	6.6e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113139
AA Change: R400C

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

SMART Domains

Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675
AA Change: R400C

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	521	3.6e-237	PFAM
Pfam:Glyco_tran_28_C	360	449	1.3e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113142
AA Change: R400C

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

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: R400C

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 damaging
Transcript: ENSMUST00000138182
AA Change: R176C

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

SMART Domains

Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165
AA Change: R176C

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

probably damaging
Transcript: ENSMUST00000140092
AA Change: R135C

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

SMART Domains

Protein: ENSMUSP00000115642
Gene: ENSMUSG00000054545
AA Change: R135C

Domain	Start	End	E-Value	Type
Pfam:UDPGT	1	166	9.3e-98	PFAM
Pfam:Glyco_tran_28_C	96	166	4.9e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150634
AA Change: R176C

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

SMART Domains

Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124
AA Change: R176C

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	9.5e-11	PFAM
Pfam:UDPGT	58	207	2e-90	PFAM
Pfam:Glyco_tran_28_C	137	207	4.8e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173325
AA Change: R201C

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

SMART Domains

Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165
AA Change: R201C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124852

Predicted Effect

probably benign
Transcript: ENSMUST00000126203

SMART Domains

Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	4.6e-11	PFAM
Pfam:UDPGT	59	127	8.9e-24	PFAM

Meta Mutation Damage Score

0.8935

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,170,587		probably null	Het
9130401M01Rik	A	T	15: 58,028,860	L117Q	probably damaging	Het
Abcb1b	A	G	5: 8,837,771	K886E	possibly damaging	Het
Acaa2	A	T	18: 74,787,127	I9F	probably damaging	Het
Acap2	A	T	16: 31,111,083	S386T	probably damaging	Het
Acsm2	A	T	7: 119,573,575	I138F	possibly damaging	Het
Agl	T	C	3: 116,746,693	Y1424C	probably damaging	Het
Apc2	T	C	10: 80,312,349	V1079A	probably benign	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Armc8	C	T	9: 99,523,132		probably benign	Het
BC005561	T	C	5: 104,518,104	F164S	probably damaging	Het
Catsperb	A	G	12: 101,622,217	Y953C	probably damaging	Het
Cdk13	G	A	13: 17,718,416	A720V	probably damaging	Het
Chka	T	C	19: 3,874,809		probably benign	Het
Clcc1	T	C	3: 108,668,102	I165T	probably benign	Het
Cndp1	G	A	18: 84,634,652		probably benign	Het
Dip2c	C	A	13: 9,553,304	P297Q	probably damaging	Het
Dnah17	A	T	11: 118,023,327	W4429R	probably damaging	Het
Doxl2	T	A	6: 48,975,654	F171Y	probably damaging	Het
Dram2	T	C	3: 106,570,766	V138A	possibly damaging	Het
Dus4l	T	C	12: 31,648,771	N78S	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Ebf1	T	C	11: 45,004,706		probably benign	Het
Epm2a	T	A	10: 11,390,843	Y111N	probably damaging	Het
Gm773	T	C	X: 56,202,017	T52A	probably benign	Het
Gpam	C	A	19: 55,079,261	M483I	probably damaging	Het
Gpr12	T	C	5: 146,583,425	H229R	probably damaging	Het
Gpr149	T	C	3: 62,531,018	T573A	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hells	T	A	19: 38,957,184		probably null	Het
Herc1	T	A	9: 66,465,469	N3102K	probably benign	Het
Herc3	A	T	6: 58,916,842	T968S	possibly damaging	Het
Ift88	A	G	14: 57,437,279	Y69C	probably benign	Het
Incenp	G	A	19: 9,885,526	T388M	unknown	Het
Jrkl	A	G	9: 13,245,332	F108S	probably benign	Het
Khdc1a	A	G	1: 21,350,318	E54G	possibly damaging	Het
Kif6	T	A	17: 49,620,700	F58L	probably damaging	Het
Klk14	T	C	7: 43,694,918	S218P	probably damaging	Het
Kmt2e	T	C	5: 23,450,321	M19T	probably benign	Het
Llgl1	G	T	11: 60,708,554	G454C	probably damaging	Het
Lyrm4	A	G	13: 36,092,915	V33A	probably benign	Het
Mcam	C	T	9: 44,141,291	R606C	probably damaging	Het
Mgam	T	A	6: 40,756,367	M692K	probably damaging	Het
Mkl2	A	G	16: 13,401,002	N504S	probably benign	Het
Mmp28	C	T	11: 83,442,939	R392H	probably damaging	Het
Mpdz	G	A	4: 81,292,551	T1699M	probably damaging	Het
Mrps11	T	C	7: 78,783,562		probably benign	Het
Msmo1	A	G	8: 64,727,616		probably benign	Het
Mst1	A	G	9: 108,084,204	E571G	probably benign	Het
Myh14	T	C	7: 44,616,299	E1585G	probably damaging	Het
Myrfl	A	G	10: 116,777,427	C824R	probably damaging	Het
Ncapd3	C	T	9: 27,069,872		probably benign	Het
Nlrp4a	G	GGTTCTTC	7: 26,464,197		probably null	Het
Nos1	C	T	5: 117,949,619		probably benign	Het
Notch3	T	C	17: 32,164,224	S47G	probably benign	Het
Npsr1	A	G	9: 24,310,075	Y122C	probably damaging	Het
Olfr1335	T	C	4: 118,809,238	M209V	probably benign	Het
Olfr339	C	T	2: 36,421,643	L82F	probably damaging	Het
Olfr420	T	A	1: 174,158,917	V48E	possibly damaging	Het
Olfr76	G	T	19: 12,120,239	R158S	possibly damaging	Het
Olfr786	C	T	10: 129,436,938	T42I	probably damaging	Het
Olfr877	T	A	9: 37,855,252	L145M	possibly damaging	Het
Otog	G	T	7: 46,300,583	V2490F	probably damaging	Het
Pibf1	T	C	14: 99,112,989	V191A	probably benign	Het
Pip	A	G	6: 41,849,918	M66V	probably benign	Het
Plxna2	C	T	1: 194,767,463	R830C	probably benign	Het
Prkca	A	T	11: 107,939,520	V248E	probably benign	Het
Prmt7	T	A	8: 106,237,284	L253*	probably null	Het
Prrc2a	G	T	17: 35,153,912		probably benign	Het
Rasgrf1	A	G	9: 90,012,800	D1091G	probably benign	Het
Rbm7	C	A	9: 48,489,945	G161V	probably benign	Het
Scn1a	A	T	2: 66,322,429	I736N	probably damaging	Het
Skint6	A	G	4: 112,869,524		probably benign	Het
Slc22a2	C	T	17: 12,584,308	H10Y	possibly damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Stam2	A	G	2: 52,714,809		probably benign	Het
Stk40	T	C	4: 126,136,833	L282P	probably damaging	Het
Tas2r110	A	G	6: 132,868,368	N121D	probably damaging	Het
Tbc1d32	A	G	10: 56,017,662	Y1272H	probably damaging	Het
Tmem131l	T	C	3: 83,928,714	D696G	probably damaging	Het
Trdmt1	T	C	2: 13,519,846	Y266C	probably damaging	Het
Trim5	G	T	7: 104,279,519	H72N	probably benign	Het
Trim5	A	C	7: 104,279,521	L71R	probably benign	Het
Twf2	T	A	9: 106,214,813		probably benign	Het
Ubap2l	T	C	3: 90,019,328	T580A	probably benign	Het
Unc5a	A	G	13: 55,004,472		probably benign	Het
Vmn2r85	T	C	10: 130,425,286	N394S	possibly damaging	Het
Wrn	A	T	8: 33,319,141		probably benign	Het

Other mutations in Ugt1a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Ugt1a10	APN	1	88055987	missense	possibly damaging	0.72
IGL02219:Ugt1a10	APN	1	88056058	missense	probably benign	0.00
IGL02511:Ugt1a10	APN	1	88055863	missense	probably damaging	1.00
IGL02990:Ugt1a10	APN	1	88055879	missense	probably damaging	1.00
PIT4142001:Ugt1a10	UTSW	1	88216158	small deletion	probably benign
R0201:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R0201:Ugt1a10	UTSW	1	88218249	missense	probably damaging	1.00
R0522:Ugt1a10	UTSW	1	88218249	missense	probably damaging	1.00
R0525:Ugt1a10	UTSW	1	88218249	missense	probably damaging	1.00
R0554:Ugt1a10	UTSW	1	88056095	missense	probably damaging	1.00
R0748:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R0811:Ugt1a10	UTSW	1	88056182	missense	probably benign	0.33
R0812:Ugt1a10	UTSW	1	88056182	missense	probably benign	0.33
R1129:Ugt1a10	UTSW	1	88055609	missense	probably benign
R1207:Ugt1a10	UTSW	1	88216254	missense	probably damaging	1.00
R1457:Ugt1a10	UTSW	1	88055711	missense	probably damaging	1.00
R1469:Ugt1a10	UTSW	1	88216254	missense	probably damaging	1.00
R1972:Ugt1a10	UTSW	1	88056047	missense	probably damaging	1.00
R1973:Ugt1a10	UTSW	1	88056047	missense	probably damaging	1.00
R2039:Ugt1a10	UTSW	1	88055981	missense	probably benign	0.32
R2307:Ugt1a10	UTSW	1	88055947	missense	probably benign	0.01
R3952:Ugt1a10	UTSW	1	88216140	missense	probably damaging	1.00
R3973:Ugt1a10	UTSW	1	88216140	missense	probably damaging	1.00
R4232:Ugt1a10	UTSW	1	88056210	missense	probably benign	0.39
R4392:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R4393:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R4402:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R4417:Ugt1a10	UTSW	1	88055995	missense	probably benign
R4474:Ugt1a10	UTSW	1	88215928	intron	probably benign
R4476:Ugt1a10	UTSW	1	88215928	intron	probably benign
R4515:Ugt1a10	UTSW	1	88056197	missense	probably damaging	1.00
R4579:Ugt1a10	UTSW	1	88056116	missense	probably benign
R4582:Ugt1a10	UTSW	1	88055741	missense	possibly damaging	0.90
R4609:Ugt1a10	UTSW	1	88055482	start codon destroyed	possibly damaging	0.92
R4627:Ugt1a10	UTSW	1	88218390	missense	probably damaging	1.00
R4790:Ugt1a10	UTSW	1	88056287	missense	probably damaging	0.98
R4799:Ugt1a10	UTSW	1	88215928	intron	probably benign
R4910:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R4915:Ugt1a10	UTSW	1	88055924	missense	probably damaging	1.00
R5110:Ugt1a10	UTSW	1	88056252	splice site	probably null
R5168:Ugt1a10	UTSW	1	88055809	missense	probably benign	0.01
R5329:Ugt1a10	UTSW	1	88216254	missense	probably damaging	1.00
R5373:Ugt1a10	UTSW	1	88055910	missense	probably damaging	0.98
R5374:Ugt1a10	UTSW	1	88055910	missense	probably damaging	0.98
R5615:Ugt1a10	UTSW	1	88216158	small deletion	probably benign
R6498:Ugt1a10	UTSW	1	88216140	missense	probably damaging	1.00
R6727:Ugt1a10	UTSW	1	88056257	splice site	probably null
R6809:Ugt1a10	UTSW	1	88055925	missense	probably damaging	0.98
R6924:Ugt1a10	UTSW	1	88055657	missense	probably damaging	0.99
R6967:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R7913:Ugt1a10	UTSW	1	88055755	missense	probably benign	0.00
R9165:Ugt1a10	UTSW	1	88055787	missense	probably benign	0.00
R9264:Ugt1a10	UTSW	1	88055671	missense	possibly damaging	0.62
R9475:Ugt1a10	UTSW	1	88216260	missense	probably damaging	1.00
S24628:Ugt1a10	UTSW	1	88216158	small deletion	probably benign
X0013:Ugt1a10	UTSW	1	88216254	missense	probably damaging	1.00
Z1088:Ugt1a10	UTSW	1	88055842	missense	probably benign	0.20
Z1190:Ugt1a10	UTSW	1	88216158	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AATCCAGACTCTGTGAGACTGGCG -3'
(R):5'- TAGCAAGCCCCAGCAATTCTCCTG -3'

Sequencing Primer
(F):5'- GCATTCATCACACACTCTGG -3'
(R):5'- gctcttacccacccacag -3'

Posted On

2014-12-08