Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Ugt1a6a'

508667

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a6a

Ensembl Gene

ENSMUSG00000054545

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A6A

Synonyms

Ugt1a6, UGT1.6

MMRRC Submission

044101-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R5903 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

88062531-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88142845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 113 (P113L)

Ref Sequence

ENSEMBL: ENSMUSP00000134443 (fasta)

Gene Model

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

AlphaFold

Q64435

Predicted Effect

probably damaging
Transcript: ENSMUST00000014263
AA Change: P313L

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

SMART Domains

Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545
AA Change: P313L

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: P315L

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

SMART Domains

Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171
AA Change: P315L

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: P313L

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

SMART Domains

Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: P313L

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: P317L

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

SMART Domains

Protein: ENSMUSP00000072803
Gene: ENSMUSG00000089960
AA Change: P317L

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: P310L

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

SMART Domains

Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175
AA Change: P310L

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: P311L

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

SMART Domains

Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943
AA Change: P311L

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: P313L

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

SMART Domains

Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
AA Change: P313L

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

probably damaging
Transcript: ENSMUST00000138182
AA Change: P88L

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

SMART Domains

Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165
AA Change: P88L

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: ENSMUST00000113142
AA Change: P312L

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

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: P312L

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: ENSMUST00000113137
AA Change: P313L

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

SMART Domains

Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145
AA Change: P313L

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: ENSMUST00000113135
AA Change: P313L

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

SMART Domains

Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124
AA Change: P313L

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: ENSMUST00000140092
AA Change: P47L

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

SMART Domains

Protein: ENSMUSP00000115642
Gene: ENSMUSG00000054545
AA Change: P47L

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: ENSMUST00000126203
AA Change: P88L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124
AA Change: P88L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113138
AA Change: P313L

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

SMART Domains

Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145
AA Change: P313L

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: ENSMUST00000173325
AA Change: P113L

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

SMART Domains

Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165
AA Change: P113L

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

probably damaging
Transcript: ENSMUST00000113139
AA Change: P312L

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

SMART Domains

Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675
AA Change: P312L

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: ENSMUST00000150634
AA Change: P88L

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

SMART Domains

Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124
AA Change: P88L

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

noncoding transcript
Transcript: ENSMUST00000173165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174821

Meta Mutation Damage Score

0.7635

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 66,145,661 (GRCm39)	V150A	unknown	Het
Abraxas1	T	C	5: 100,965,824 (GRCm39)		probably null	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atg2b	T	C	12: 105,605,618 (GRCm39)	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,683,254 (GRCm39)	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,789,343 (GRCm39)	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760 (GRCm39)	D347G	probably damaging	Het
Baz2b	C	T	2: 59,790,233 (GRCm39)	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,896,801 (GRCm39)	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,002,837 (GRCm39)	Q745*	probably null	Het
Cep97	G	A	16: 55,739,889 (GRCm39)	S185L	probably damaging	Het
Clec4d	A	G	6: 123,244,020 (GRCm39)	H43R	probably damaging	Het
Cntn3	T	A	6: 102,219,094 (GRCm39)	M509L	probably benign	Het
Cntrob	A	C	11: 69,200,201 (GRCm39)	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,395,514 (GRCm39)	N37I	possibly damaging	Het
Edc4	A	G	8: 106,617,219 (GRCm39)	T1029A	probably benign	Het
Fhip2b	A	T	14: 70,829,121 (GRCm39)	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,062,270 (GRCm39)		probably null	Het
Fzd6	T	A	15: 38,870,783 (GRCm39)	M1K	probably null	Het
Gle1	C	A	2: 29,830,293 (GRCm39)	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,215,386 (GRCm39)	V161A	probably damaging	Het
Hsf2	T	C	10: 57,380,819 (GRCm39)	S218P	probably benign	Het
Ipo7	T	A	7: 109,650,020 (GRCm39)	C736S	probably damaging	Het
Itpkb	G	T	1: 180,241,540 (GRCm39)	V737L	probably damaging	Het
Itpr1	T	C	6: 108,466,758 (GRCm39)		probably benign	Het
Kcnh8	G	T	17: 53,110,364 (GRCm39)	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,518,523 (GRCm39)		probably benign	Het
Kdm3a	C	A	6: 71,609,234 (GRCm39)		probably benign	Het
Kif5a	T	A	10: 127,066,447 (GRCm39)	M990L	probably benign	Het
Klf12	A	G	14: 100,260,124 (GRCm39)	S202P	probably damaging	Het
Krt81	T	G	15: 101,358,083 (GRCm39)	Q390P	probably damaging	Het
Lrig3	T	C	10: 125,844,347 (GRCm39)	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,235,612 (GRCm39)	V48D	probably damaging	Het
Mta1	C	T	12: 113,100,239 (GRCm39)	P688L	probably damaging	Het
Oas1h	T	C	5: 121,009,040 (GRCm39)	V250A	probably damaging	Het
Or10c1	A	T	17: 37,521,912 (GRCm39)	Y277*	probably null	Het
Or52z13	G	T	7: 103,247,128 (GRCm39)	G202*	probably null	Het
P2rx3	T	C	2: 84,831,071 (GRCm39)	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,333,718 (GRCm39)	I101T	possibly damaging	Het
Psme4	A	T	11: 30,791,589 (GRCm39)	N1148I	probably benign	Het
Rnf213	T	C	11: 119,312,195 (GRCm39)	L874P	probably damaging	Het
Sart3	T	C	5: 113,889,300 (GRCm39)	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,569,305 (GRCm39)		probably benign	Het
Slc9b1	C	T	3: 135,098,655 (GRCm39)		probably benign	Het
Stmn3	T	C	2: 180,950,573 (GRCm39)	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,301,389 (GRCm39)	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,386,242 (GRCm39)	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,113,993 (GRCm39)	R77H	probably benign	Het
Unc5a	T	A	13: 55,147,503 (GRCm39)	C438S	possibly damaging	Het
Zan	C	A	5: 137,440,396 (GRCm39)	C1946F	unknown	Het

Other mutations in Ugt1a6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Ugt1a6a	APN	1	88,066,772 (GRCm39)	missense	probably damaging	1.00
IGL02029:Ugt1a6a	APN	1	88,066,403 (GRCm39)	missense	probably benign	0.28
IGL02059:Ugt1a6a	APN	1	88,066,403 (GRCm39)	missense	possibly damaging	0.63
IGL02553:Ugt1a6a	APN	1	88,066,811 (GRCm39)	missense	probably benign	0.01
R0164:Ugt1a6a	UTSW	1	88,066,992 (GRCm39)	missense	possibly damaging	0.63
R0609:Ugt1a6a	UTSW	1	88,066,606 (GRCm39)	missense	probably benign	0.00
R1055:Ugt1a6a	UTSW	1	88,066,736 (GRCm39)	missense	probably benign
R1994:Ugt1a6a	UTSW	1	88,066,470 (GRCm39)	missense	probably benign	0.01
R3747:Ugt1a6a	UTSW	1	88,066,871 (GRCm39)	missense	probably damaging	1.00
R3822:Ugt1a6a	UTSW	1	88,066,251 (GRCm39)	missense	probably benign	0.10
R4084:Ugt1a6a	UTSW	1	88,066,899 (GRCm39)	missense	probably benign	0.37
R4153:Ugt1a6a	UTSW	1	88,066,193 (GRCm39)	critical splice acceptor site	probably null
R4343:Ugt1a6a	UTSW	1	88,066,248 (GRCm39)	missense	probably damaging	0.97
R4495:Ugt1a6a	UTSW	1	88,066,905 (GRCm39)	missense	probably damaging	1.00
R4555:Ugt1a6a	UTSW	1	88,066,349 (GRCm39)	nonsense	probably null
R4600:Ugt1a6a	UTSW	1	88,066,586 (GRCm39)	missense	probably benign	0.00
R4631:Ugt1a6a	UTSW	1	88,066,980 (GRCm39)	missense	probably benign	0.01
R4676:Ugt1a6a	UTSW	1	88,067,007 (GRCm39)	missense	possibly damaging	0.48
R5495:Ugt1a6a	UTSW	1	88,066,746 (GRCm39)	missense	probably benign	0.03
R5958:Ugt1a6a	UTSW	1	88,143,510 (GRCm39)	splice site	probably benign
R8077:Ugt1a6a	UTSW	1	88,066,575 (GRCm39)	missense	probably benign	0.31
R8711:Ugt1a6a	UTSW	1	88,066,590 (GRCm39)	missense	possibly damaging	0.81
R8899:Ugt1a6a	UTSW	1	88,066,803 (GRCm39)	missense	probably damaging	1.00
R9225:Ugt1a6a	UTSW	1	88,066,560 (GRCm39)	missense	probably benign	0.01
R9401:Ugt1a6a	UTSW	1	88,066,882 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCTTGTCTATTGCACACACC -3'
(R):5'- AAATAGACCATAGTGTAGGAGTACC -3'

Sequencing Primer
(F):5'- CTTTCACTGACTTCCATAAGAGGG -3'
(R):5'- ACTCTGGAACCAGAGTTC -3'

Posted On

2018-03-23