Mutagenetix > Incidental Mutation

Incidental Mutation 'R1706:Ugt1a7c'

190044

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a7c

Ensembl Gene

ENSMUSG00000090124

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A7C

Synonyms

A10'

MMRRC Submission

039739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R1706 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88022784-88147724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88023447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 202 (M202K)

Ref Sequence

ENSEMBL: ENSMUSP00000058683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000113139] [ENSMUST00000113142] [ENSMUST00000126203] [ENSMUST00000138182] [ENSMUST00000173325] [ENSMUST00000150634]

AlphaFold

Q6ZQM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000058237
AA Change: M202K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: M202K

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 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

probably benign
Transcript: ENSMUST00000113139

SMART Domains

Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675

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

noncoding transcript
Transcript: ENSMUST00000121495

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150634

SMART Domains

Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124

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

Meta Mutation Damage Score

0.4762

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,624,059 (GRCm39)		probably benign	Het
4931406C07Rik	G	A	9: 15,209,153 (GRCm39)	T47I	probably damaging	Het
Adcy2	T	A	13: 68,868,865 (GRCm39)	N558I	probably damaging	Het
Ago3	G	A	4: 126,264,085 (GRCm39)	P374S	probably damaging	Het
Ak8	T	C	2: 28,650,007 (GRCm39)	C345R	possibly damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
BC005624	T	C	2: 30,868,922 (GRCm39)	E84G	possibly damaging	Het
Cav1	T	C	6: 17,339,181 (GRCm39)	F89L	probably damaging	Het
Cfap206	G	A	4: 34,688,875 (GRCm39)	P593L	probably damaging	Het
Clcn6	G	A	4: 148,102,025 (GRCm39)	T353I	probably benign	Het
Cstl1	G	A	2: 148,593,079 (GRCm39)		probably null	Het
Cyp2d10	A	C	15: 82,289,783 (GRCm39)	S140A	probably damaging	Het
D130052B06Rik	G	A	11: 33,566,230 (GRCm39)	R18H	unknown	Het
Ddi2	A	G	4: 141,411,308 (GRCm39)	F535L	probably benign	Het
Dop1a	C	T	9: 86,436,133 (GRCm39)	T2383M	possibly damaging	Het
Duox1	A	G	2: 122,149,953 (GRCm39)	T115A	probably benign	Het
Ercc6l2	T	A	13: 64,020,272 (GRCm39)		probably benign	Het
Gm7052	A	G	17: 22,258,823 (GRCm39)		probably benign	Het
Gm9925	G	A	18: 74,198,573 (GRCm39)		probably benign	Het
Gnas	T	A	2: 174,141,768 (GRCm39)	S646T	possibly damaging	Het
Gpatch3	T	A	4: 133,302,484 (GRCm39)	C138*	probably null	Het
Igsf8	C	T	1: 172,144,972 (GRCm39)	R100C	probably damaging	Het
Kcnh3	A	G	15: 99,135,959 (GRCm39)	K652R	possibly damaging	Het
Kcnn4	T	A	7: 24,074,167 (GRCm39)	V77E	probably damaging	Het
Kif13b	T	A	14: 64,998,115 (GRCm39)		probably benign	Het
Lca5l	T	C	16: 95,977,164 (GRCm39)	N214S	probably benign	Het
Luc7l3	T	C	11: 94,188,582 (GRCm39)		probably benign	Het
Lypd3	T	C	7: 24,339,755 (GRCm39)	I274T	probably benign	Het
Macf1	A	G	4: 123,264,377 (GRCm39)		probably null	Het
Mchr1	A	G	15: 81,121,364 (GRCm39)	Y38C	probably damaging	Het
Mia2	T	A	12: 59,191,552 (GRCm39)	L716*	probably null	Het
Mki67	A	G	7: 135,302,295 (GRCm39)	L913P	probably benign	Het
Mug2	T	A	6: 122,013,191 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,472,563 (GRCm39)	L58P	probably damaging	Het
Or4p23	G	A	2: 88,576,482 (GRCm39)	P250L	probably damaging	Het
Or8h9	A	T	2: 86,789,424 (GRCm39)	I126N	probably damaging	Het
Pak1ip1	T	C	13: 41,166,164 (GRCm39)	V363A	probably benign	Het
Pcdhb16	A	G	18: 37,612,705 (GRCm39)	D555G	probably benign	Het
Pygb	G	A	2: 150,669,067 (GRCm39)	G671D	probably damaging	Het
Rab30	A	T	7: 92,478,875 (GRCm39)	I79L	possibly damaging	Het
Rab44	C	A	17: 29,357,080 (GRCm39)	T70K	probably damaging	Het
Rccd1	C	G	7: 79,970,411 (GRCm39)	G69R	possibly damaging	Het
Sema5b	T	C	16: 35,470,125 (GRCm39)	V329A	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slc22a14	T	C	9: 119,010,050 (GRCm39)	N15S	probably benign	Het
Smurf2	G	A	11: 106,715,573 (GRCm39)	H632Y	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tgm6	T	C	2: 129,987,079 (GRCm39)	C516R	possibly damaging	Het
Tmprss9	T	C	10: 80,734,021 (GRCm39)		probably benign	Het
Trim67	A	G	8: 125,521,160 (GRCm39)	N174S	probably damaging	Het
Ttc8	C	A	12: 98,910,142 (GRCm39)	T123K	probably benign	Het
Vmn2r7	T	A	3: 64,598,880 (GRCm39)	H559L	possibly damaging	Het
Zfp511	A	G	7: 139,617,192 (GRCm39)	D96G	probably benign	Het
Zfp868	A	G	8: 70,065,060 (GRCm39)	Y92H	probably benign	Het
Zzz3	T	A	3: 152,154,735 (GRCm39)	D633E	probably damaging	Het

Other mutations in Ugt1a7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Ugt1a7c	APN	1	88,022,967 (GRCm39)	missense	probably damaging	0.97
IGL01973:Ugt1a7c	APN	1	88,022,856 (GRCm39)	missense	probably benign	0.00
IGL01990:Ugt1a7c	APN	1	88,023,324 (GRCm39)	missense	probably damaging	1.00
IGL02589:Ugt1a7c	APN	1	88,023,360 (GRCm39)	missense	probably benign	0.00
IGL02625:Ugt1a7c	APN	1	88,023,239 (GRCm39)	missense	possibly damaging	0.94
IGL03381:Ugt1a7c	APN	1	88,023,512 (GRCm39)	missense	probably benign	0.00
R1205:Ugt1a7c	UTSW	1	88,023,678 (GRCm39)	missense	probably benign	0.00
R1667:Ugt1a7c	UTSW	1	88,023,657 (GRCm39)	missense	probably damaging	0.97
R1928:Ugt1a7c	UTSW	1	88,023,651 (GRCm39)	missense	probably benign	0.35
R3809:Ugt1a7c	UTSW	1	88,023,104 (GRCm39)	missense	possibly damaging	0.95
R4194:Ugt1a7c	UTSW	1	88,023,449 (GRCm39)	missense	possibly damaging	0.67
R4787:Ugt1a7c	UTSW	1	88,023,392 (GRCm39)	missense	probably damaging	0.99
R5291:Ugt1a7c	UTSW	1	88,023,231 (GRCm39)	missense	possibly damaging	0.48
R5473:Ugt1a7c	UTSW	1	88,023,159 (GRCm39)	missense	probably benign	0.21
R5871:Ugt1a7c	UTSW	1	88,023,381 (GRCm39)	missense	possibly damaging	0.50
R5934:Ugt1a7c	UTSW	1	88,023,601 (GRCm39)	missense	probably damaging	0.99
R6591:Ugt1a7c	UTSW	1	88,023,378 (GRCm39)	missense	possibly damaging	0.85
R6691:Ugt1a7c	UTSW	1	88,023,378 (GRCm39)	missense	possibly damaging	0.85
R7033:Ugt1a7c	UTSW	1	88,023,250 (GRCm39)	missense	possibly damaging	0.79
R8044:Ugt1a7c	UTSW	1	88,023,278 (GRCm39)	missense	probably damaging	1.00
R8342:Ugt1a7c	UTSW	1	88,022,973 (GRCm39)	missense	possibly damaging	0.83
R8357:Ugt1a7c	UTSW	1	88,023,078 (GRCm39)	missense	probably benign	0.02
R8457:Ugt1a7c	UTSW	1	88,023,078 (GRCm39)	missense	probably benign	0.02
R9363:Ugt1a7c	UTSW	1	88,023,616 (GRCm39)	missense	probably damaging	1.00
R9617:Ugt1a7c	UTSW	1	88,022,952 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGCTTGATTCTCCAGCCAAAGG -3'
(R):5'- GGGGAACTCCAAGACAAAGTCTGTG -3'

Sequencing Primer
(F):5'- CCAGCCAAAGGTTTCTTCGAATTAC -3'
(R):5'- GTCTGTGCGTAACAACCAAATG -3'

Posted On

2014-05-14