Mutagenetix > Incidental Mutation

Incidental Mutation 'R1129:Ugt1a10'

96448

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a10

Ensembl Gene

ENSMUSG00000090165

Gene Name

UDP glycosyltransferase 1 family, polypeptide A10

Synonyms

A13

MMRRC Submission

039202-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1129 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87983110-88146726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87983331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 43 (M43T)

Ref Sequence

ENSEMBL: ENSMUSP00000134443 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000113142
AA Change: M43T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: M43T

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

unknown
Transcript: ENSMUST00000138182
AA Change: M43T

SMART Domains

Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165
AA Change: M43T

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

probably benign
Transcript: ENSMUST00000173325
AA Change: M43T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165
AA Change: M43T

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: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	G	C	2: 179,814,712 (GRCm39)		probably benign	Het
Bub1b	A	T	2: 118,445,487 (GRCm39)	D269V	probably damaging	Het
Ccdc73	A	G	2: 104,822,535 (GRCm39)	N828S	possibly damaging	Het
Cdk12	T	C	11: 98,136,201 (GRCm39)	S1152P	unknown	Het
Cnnm3	T	C	1: 36,552,097 (GRCm39)	L369P	probably damaging	Het
Cxadr	A	G	16: 78,133,321 (GRCm39)	K360R	probably benign	Het
Dlg2	G	A	7: 92,080,382 (GRCm39)		probably null	Het
Dst	T	C	1: 34,238,635 (GRCm39)	V3779A	probably benign	Het
Fbxo16	G	A	14: 65,532,981 (GRCm39)	R161K	probably benign	Het
Gm9726	T	A	12: 93,895,300 (GRCm39)		noncoding transcript	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Hectd4	A	G	5: 121,448,662 (GRCm39)	T337A	possibly damaging	Het
Ints1	A	G	5: 139,744,226 (GRCm39)	L1510S	probably benign	Het
Kansl2	T	C	15: 98,431,462 (GRCm39)	Y63C	probably damaging	Het
Lats2	T	C	14: 57,937,790 (GRCm39)	E233G	possibly damaging	Het
Naca	T	C	10: 127,876,071 (GRCm39)		probably benign	Het
Pprc1	G	T	19: 46,052,245 (GRCm39)	A591S	probably benign	Het
Sbsn	C	T	7: 30,452,865 (GRCm39)	P627S	probably benign	Het
Sema6b	T	C	17: 56,431,347 (GRCm39)	E772G	probably benign	Het
Tmem33	A	G	5: 67,421,803 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,180,565 (GRCm39)		probably null	Het
Ubqlnl	A	T	7: 103,798,857 (GRCm39)	H213Q	probably damaging	Het
Vmn2r68	T	C	7: 84,886,712 (GRCm39)		probably null	Het
Zcchc14	A	G	8: 122,335,154 (GRCm39)		probably benign	Het

Other mutations in Ugt1a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Ugt1a10	APN	1	87,983,709 (GRCm39)	missense	possibly damaging	0.72
IGL02219:Ugt1a10	APN	1	87,983,780 (GRCm39)	missense	probably benign	0.00
IGL02511:Ugt1a10	APN	1	87,983,585 (GRCm39)	missense	probably damaging	1.00
IGL02990:Ugt1a10	APN	1	87,983,601 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Ugt1a10	UTSW	1	88,143,880 (GRCm39)	small deletion	probably benign
R0201:Ugt1a10	UTSW	1	88,145,971 (GRCm39)	missense	probably damaging	1.00
R0201:Ugt1a10	UTSW	1	88,142,845 (GRCm39)	missense	probably damaging	1.00
R0522:Ugt1a10	UTSW	1	88,145,971 (GRCm39)	missense	probably damaging	1.00
R0525:Ugt1a10	UTSW	1	88,145,971 (GRCm39)	missense	probably damaging	1.00
R0554:Ugt1a10	UTSW	1	87,983,817 (GRCm39)	missense	probably damaging	1.00
R0748:Ugt1a10	UTSW	1	88,142,845 (GRCm39)	missense	probably damaging	1.00
R0811:Ugt1a10	UTSW	1	87,983,904 (GRCm39)	missense	probably benign	0.33
R0812:Ugt1a10	UTSW	1	87,983,904 (GRCm39)	missense	probably benign	0.33
R1207:Ugt1a10	UTSW	1	88,143,976 (GRCm39)	missense	probably damaging	1.00
R1432:Ugt1a10	UTSW	1	88,143,982 (GRCm39)	missense	probably damaging	1.00
R1457:Ugt1a10	UTSW	1	87,983,433 (GRCm39)	missense	probably damaging	1.00
R1469:Ugt1a10	UTSW	1	88,143,976 (GRCm39)	missense	probably damaging	1.00
R1972:Ugt1a10	UTSW	1	87,983,769 (GRCm39)	missense	probably damaging	1.00
R1973:Ugt1a10	UTSW	1	87,983,769 (GRCm39)	missense	probably damaging	1.00
R2039:Ugt1a10	UTSW	1	87,983,703 (GRCm39)	missense	probably benign	0.32
R2307:Ugt1a10	UTSW	1	87,983,669 (GRCm39)	missense	probably benign	0.01
R3952:Ugt1a10	UTSW	1	88,143,862 (GRCm39)	missense	probably damaging	1.00
R3973:Ugt1a10	UTSW	1	88,143,862 (GRCm39)	missense	probably damaging	1.00
R4232:Ugt1a10	UTSW	1	87,983,932 (GRCm39)	missense	probably benign	0.39
R4392:Ugt1a10	UTSW	1	88,142,845 (GRCm39)	missense	probably damaging	1.00
R4393:Ugt1a10	UTSW	1	88,142,845 (GRCm39)	missense	probably damaging	1.00
R4402:Ugt1a10	UTSW	1	88,142,845 (GRCm39)	missense	probably damaging	1.00
R4417:Ugt1a10	UTSW	1	87,983,717 (GRCm39)	missense	probably benign
R4474:Ugt1a10	UTSW	1	88,143,650 (GRCm39)	intron	probably benign
R4476:Ugt1a10	UTSW	1	88,143,650 (GRCm39)	intron	probably benign
R4515:Ugt1a10	UTSW	1	87,983,919 (GRCm39)	missense	probably damaging	1.00
R4579:Ugt1a10	UTSW	1	87,983,838 (GRCm39)	missense	probably benign
R4582:Ugt1a10	UTSW	1	87,983,463 (GRCm39)	missense	possibly damaging	0.90
R4609:Ugt1a10	UTSW	1	87,983,204 (GRCm39)	start codon destroyed	possibly damaging	0.92
R4627:Ugt1a10	UTSW	1	88,146,112 (GRCm39)	missense	probably damaging	1.00
R4790:Ugt1a10	UTSW	1	87,984,009 (GRCm39)	missense	probably damaging	0.98
R4799:Ugt1a10	UTSW	1	88,143,650 (GRCm39)	intron	probably benign
R4910:Ugt1a10	UTSW	1	88,142,845 (GRCm39)	missense	probably damaging	1.00
R4915:Ugt1a10	UTSW	1	87,983,646 (GRCm39)	missense	probably damaging	1.00
R5110:Ugt1a10	UTSW	1	87,983,974 (GRCm39)	splice site	probably null
R5168:Ugt1a10	UTSW	1	87,983,531 (GRCm39)	missense	probably benign	0.01
R5329:Ugt1a10	UTSW	1	88,143,976 (GRCm39)	missense	probably damaging	1.00
R5373:Ugt1a10	UTSW	1	87,983,632 (GRCm39)	missense	probably damaging	0.98
R5374:Ugt1a10	UTSW	1	87,983,632 (GRCm39)	missense	probably damaging	0.98
R5615:Ugt1a10	UTSW	1	88,143,880 (GRCm39)	small deletion	probably benign
R6498:Ugt1a10	UTSW	1	88,143,862 (GRCm39)	missense	probably damaging	1.00
R6727:Ugt1a10	UTSW	1	87,983,979 (GRCm39)	splice site	probably null
R6809:Ugt1a10	UTSW	1	87,983,647 (GRCm39)	missense	probably damaging	0.98
R6924:Ugt1a10	UTSW	1	87,983,379 (GRCm39)	missense	probably damaging	0.99
R6967:Ugt1a10	UTSW	1	88,142,845 (GRCm39)	missense	probably damaging	1.00
R7913:Ugt1a10	UTSW	1	87,983,477 (GRCm39)	missense	probably benign	0.00
R9165:Ugt1a10	UTSW	1	87,983,509 (GRCm39)	missense	probably benign	0.00
R9264:Ugt1a10	UTSW	1	87,983,393 (GRCm39)	missense	possibly damaging	0.62
R9475:Ugt1a10	UTSW	1	88,143,982 (GRCm39)	missense	probably damaging	1.00
S24628:Ugt1a10	UTSW	1	88,143,880 (GRCm39)	small deletion	probably benign
X0013:Ugt1a10	UTSW	1	88,143,976 (GRCm39)	missense	probably damaging	1.00
Z1088:Ugt1a10	UTSW	1	87,983,564 (GRCm39)	missense	probably benign	0.20
Z1190:Ugt1a10	UTSW	1	88,143,880 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGCGACTGGATTGCTCTGGAC -3'
(R):5'- TGCAAAGATCACTGATGGGAGTGAC -3'

Sequencing Primer
(F):5'- GATTGCTCTGGACTTTGAATTTACC -3'
(R):5'- TCTAGCTGAGCCTGTCATGAAAG -3'

Posted On

2014-01-05