Mutagenetix > Incidental Mutations

Incidental Mutation 'R3910:Ugt1a8'

309324

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a8

Ensembl Gene

ENSMUSG00000089675

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A8

Synonyms

OTTMUSG00000020811, A116

MMRRC Submission

040815-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R3910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88087813-88219004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88088048 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 61 (E61G)

Ref Sequence

ENSEMBL: ENSMUSP00000108764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073772] [ENSMUST00000113139] [ENSMUST00000113142] [ENSMUST00000138182] [ENSMUST00000173325]

Predicted Effect

probably benign
Transcript: ENSMUST00000073772

SMART Domains

Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175

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

possibly damaging
Transcript: ENSMUST00000113139
AA Change: E61G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675
AA Change: E61G

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 benign
Transcript: ENSMUST00000113142

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165

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

probably benign
Transcript: ENSMUST00000173325

SMART Domains

Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165

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

Meta Mutation Damage Score

0.5717

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
4931409K22Rik	A	T	5: 24,545,442		probably benign	Het
9030624J02Rik	A	G	7: 118,746,390	T49A	possibly damaging	Het
Bod1l	T	C	5: 41,817,098	E2291G	probably damaging	Het
Cchcr1	T	C	17: 35,525,336	V341A	probably damaging	Het
Dsg1c	T	C	18: 20,266,196	V119A	possibly damaging	Het
Fap	A	G	2: 62,556,104	S58P	probably damaging	Het
Flnc	A	T	6: 29,459,427	T2509S	probably damaging	Het
Fnip2	A	T	3: 79,479,505	D971E	possibly damaging	Het
Gab2	A	G	7: 97,299,073	Y290C	probably damaging	Het
Gm7104	C	T	12: 88,284,594		noncoding transcript	Het
Ints10	T	A	8: 68,813,620	S478T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt90	G	A	15: 101,562,783	R15W	probably damaging	Het
Lgr5	A	G	10: 115,587,463	S11P	possibly damaging	Het
Mycn	T	A	12: 12,937,280	N372I	probably damaging	Het
Olfr459	A	G	6: 41,772,149	V50A	probably benign	Het
Olfr700	A	T	7: 106,805,865	V199D	probably damaging	Het
Paxbp1	T	A	16: 91,042,681	E117V	probably damaging	Het
Phc2	T	C	4: 128,743,558		probably null	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Rev3l	A	G	10: 39,820,556	I521M	probably damaging	Het
Robo3	A	T	9: 37,419,295	Y1002N	probably damaging	Het
Svep1	A	T	4: 58,145,156		probably null	Het
Thsd7a	A	G	6: 12,331,549	V1342A	probably damaging	Het
Tmtc3	A	C	10: 100,449,026	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,256,182		probably benign	Het
Trim30a	A	G	7: 104,411,141	V476A	probably damaging	Het
Vmn1r75	A	T	7: 11,880,830	N163I	possibly damaging	Het
Zfp119a	G	A	17: 55,866,520	L108F	probably benign	Het

Other mutations in Ugt1a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Ugt1a8	APN	1	88087895	missense	probably benign	0.01
IGL01404:Ugt1a8	APN	1	88087895	missense	probably benign	0.01
IGL02838:Ugt1a8	APN	1	88088677	missense	probably benign	0.37
R0220:Ugt1a8	UTSW	1	88088335	missense	probably benign
R0504:Ugt1a8	UTSW	1	88088357	missense	probably damaging	1.00
R2087:Ugt1a8	UTSW	1	88088273	missense	probably damaging	1.00
R4297:Ugt1a8	UTSW	1	88088104	missense	probably benign	0.00
R5213:Ugt1a8	UTSW	1	88088123	nonsense	probably null
R7048:Ugt1a8	UTSW	1	88088302	missense	probably benign	0.17
R7592:Ugt1a8	UTSW	1	88088182	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CACAGTCCCAGCCCATGTATTC -3'
(R):5'- AGTACTTGGAAGAAACCTTTGCC -3'

Sequencing Primer
(F):5'- AGCCCATGTATTCTCCTGGG -3'
(R):5'- TGGAAGAAACCTTTGCCTGAATGC -3'

Posted On

2015-04-17