Mutagenetix > Incidental Mutation

Incidental Mutation 'R5934:Ugt1a7c'

462064

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a7c

Ensembl Gene

ENSMUSG00000090124

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A7C

Synonyms

A10'

MMRRC Submission

044128-MU

Accession Numbers

Essential gene?

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

Stock #

R5934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88022784-88147724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88023601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 253 (L253F)

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: L253F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: L253F

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,980,806 (GRCm39)	V596A	probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Afg1l	G	A	10: 42,194,682 (GRCm39)	T370M	probably damaging	Het
Aldh2	T	C	5: 121,717,678 (GRCm39)	T118A	probably benign	Het
Apcdd1	C	T	18: 63,084,940 (GRCm39)	A379V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,299 (GRCm39)		probably benign	Het
Calhm5	A	G	10: 33,968,198 (GRCm39)	V285A	possibly damaging	Het
Cd96	G	T	16: 45,938,266 (GRCm39)	D66E	probably benign	Het
Cdh5	T	A	8: 104,864,900 (GRCm39)	V506E	probably benign	Het
Cep70	T	C	9: 99,136,318 (GRCm39)	I7T	probably benign	Het
Ckb	A	T	12: 111,636,663 (GRCm39)	V237D	probably damaging	Het
Col6a6	C	T	9: 105,644,274 (GRCm39)	D1306N	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Ddhd2	A	G	8: 26,243,140 (GRCm39)	S19P	probably damaging	Het
Dnah17	G	T	11: 117,931,928 (GRCm39)	D3681E	probably benign	Het
Dop1a	T	A	9: 86,424,495 (GRCm39)	Y2068*	probably null	Het
Fryl	T	C	5: 73,248,060 (GRCm39)	Y1019C	probably damaging	Het
Fsip2	G	A	2: 82,817,092 (GRCm39)	C4275Y	possibly damaging	Het
Gapdh	A	G	6: 125,139,664 (GRCm39)	V202A	probably damaging	Het
Gmeb2	T	C	2: 180,897,367 (GRCm39)	I250M	possibly damaging	Het
Gpr88	C	T	3: 116,045,958 (GRCm39)	G118R	probably damaging	Het
Hdhd3	C	A	4: 62,417,607 (GRCm39)	V190L	possibly damaging	Het
Heg1	C	T	16: 33,547,289 (GRCm39)	T461M	probably damaging	Het
Hspg2	A	G	4: 137,246,083 (GRCm39)	Y989C	probably damaging	Het
Ift74	A	T	4: 94,520,971 (GRCm39)	M175L	probably benign	Het
Kcnh3	G	A	15: 99,124,414 (GRCm39)	R101Q	possibly damaging	Het
Kif20b	G	T	19: 34,918,721 (GRCm39)	V702F	probably benign	Het
Klhl1	A	G	14: 96,360,651 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,618,249 (GRCm39)	V916A	probably benign	Het
Macir	A	T	1: 97,573,655 (GRCm39)	C137S	possibly damaging	Het
Mpp4	A	T	1: 59,160,535 (GRCm39)	D589E	probably damaging	Het
Msl2	T	C	9: 100,979,017 (GRCm39)	C464R	probably damaging	Het
Mucl2	A	T	15: 103,927,832 (GRCm39)	S42T	probably benign	Het
Musk	T	A	4: 58,373,613 (GRCm39)	L838Q	probably damaging	Het
Nos1	A	G	5: 118,074,510 (GRCm39)	H1052R	probably damaging	Het
Or10d4b	C	T	9: 39,534,479 (GRCm39)	T20I	probably damaging	Het
Or10v1	A	G	19: 11,874,293 (GRCm39)	R303G	probably benign	Het
Or1j20	T	A	2: 36,760,280 (GRCm39)	I234N	probably benign	Het
Or2at1	A	T	7: 99,416,596 (GRCm39)	I76F	probably damaging	Het
Or4d2	T	C	11: 87,784,049 (GRCm39)	R234G	possibly damaging	Het
Or52e15	C	A	7: 104,645,385 (GRCm39)	C242F	probably damaging	Het
Or56a5	G	A	7: 104,792,867 (GRCm39)	S211F	probably benign	Het
Or5w8	T	C	2: 87,687,585 (GRCm39)	V22A	probably benign	Het
Or8u8	T	A	2: 86,012,446 (GRCm39)	Q3L	probably benign	Het
Pard3	T	G	8: 128,115,819 (GRCm39)	L636R	probably damaging	Het
Pigr	A	T	1: 130,772,264 (GRCm39)	S161C	probably damaging	Het
Polr1e	T	C	4: 45,029,369 (GRCm39)	S325P	probably damaging	Het
Prrc2a	A	T	17: 35,369,060 (GRCm39)	V1992E	probably damaging	Het
Psma5-ps	T	C	10: 85,150,145 (GRCm39)		noncoding transcript	Het
Ptpdc1	T	C	13: 48,739,845 (GRCm39)	K468E	probably benign	Het
Rab22a	A	G	2: 173,503,297 (GRCm39)	T37A	probably damaging	Het
Rai14	T	A	15: 10,575,245 (GRCm39)	K571I	probably damaging	Het
Reck	G	A	4: 43,930,979 (GRCm39)	G660D	probably damaging	Het
Rgs4	T	C	1: 169,572,807 (GRCm39)	D43G	possibly damaging	Het
Ryr2	A	T	13: 11,599,040 (GRCm39)	D4645E	probably damaging	Het
Sf3b3	A	G	8: 111,550,102 (GRCm39)	S639P	probably damaging	Het
Slc27a4	G	T	2: 29,701,672 (GRCm39)	R430L	probably damaging	Het
Slfn1	T	A	11: 83,012,770 (GRCm39)	Y295*	probably null	Het
Slfn5	C	T	11: 82,847,418 (GRCm39)	S101L	probably damaging	Het
Sult1d1	CCATG	CCATGGCATG	5: 87,707,629 (GRCm39)		probably null	Het
Tchh	A	T	3: 93,351,419 (GRCm39)	Q286H	unknown	Het
Tmem184c	A	T	8: 78,331,352 (GRCm39)	Y172*	probably null	Het
Tsc22d1	T	G	14: 76,656,266 (GRCm39)	M833R	possibly damaging	Het
Usp19	C	T	9: 108,369,766 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,355,148 (GRCm39)	I3303K	possibly damaging	Het
Zfp574	G	A	7: 24,779,757 (GRCm39)	A260T	probably benign	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	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
R1706:Ugt1a7c	UTSW	1	88,023,447 (GRCm39)	missense	probably damaging	0.99
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
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'- TTGAAGATGCTGCCCAGTGC -3'
(R):5'- TCAGCTGTACAAACGCACAG -3'

Sequencing Primer
(F):5'- ATCCCCAGAATGCTCTTAAAATTC -3'
(R):5'- CTGTACAAACGCACAGTTAAGTG -3'

Posted On

2017-02-28