Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02625:Ugt1a7c'

301015

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt1a7c

Ensembl Gene

ENSMUSG00000090124

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A7C

Synonyms

A10'

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL02625

Quality Score

Status

Chromosome

Chromosomal Location

88095062-88220002 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88095517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 133 (K133E)

Ref Sequence

ENSEMBL: ENSMUSP00000058683 (fasta)

Gene Model

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

AlphaFold

Q6ZQM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058237
AA Change: K133E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: K133E

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

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	T	A	4: 99,746,347	C109S	probably damaging	Het
Arhgdia	C	A	11: 120,580,213	E53D	probably benign	Het
Ccr4	A	C	9: 114,492,333	C221W	probably damaging	Het
Ces2a	G	A	8: 104,740,278		probably null	Het
Chpf2	G	T	5: 24,591,711	E552*	probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnmt1	C	T	9: 20,927,146	R207H	probably benign	Het
Dock2	A	G	11: 34,501,168		probably null	Het
Esr1	A	T	10: 5,001,346	T575S	probably benign	Het
Fancc	A	G	13: 63,398,151	C93R	probably damaging	Het
Foxj3	A	T	4: 119,624,917	R523W	unknown	Het
Fryl	C	T	5: 73,069,877		probably benign	Het
Fsip2	A	C	2: 82,949,492	H194P	probably benign	Het
Gaa	G	A	11: 119,274,733	V350I	probably damaging	Het
Gpn3	T	A	5: 122,381,194	I152N	probably damaging	Het
H2-M10.3	T	A	17: 36,367,525	H136L	probably benign	Het
Hist4h4	C	T	6: 136,804,337		probably benign	Het
Hspg2	A	G	4: 137,512,642	D507G	probably damaging	Het
Jcad	A	G	18: 4,674,422	E728G	probably benign	Het
Kat14	G	A	2: 144,402,445	R406H	possibly damaging	Het
Kcnma1	G	T	14: 23,363,832	D863E	probably damaging	Het
Lrp1	A	G	10: 127,574,486	Y1464H	probably damaging	Het
Map4	T	C	9: 110,064,417	S584P	probably damaging	Het
Nlrp4f	G	A	13: 65,199,271	L58F	probably damaging	Het
Nlrp6	A	G	7: 140,923,500	I506M	probably benign	Het
Nudt17	G	A	3: 96,706,464	R266W	probably damaging	Het
Olfr1241	A	G	2: 89,482,674	S154P	probably damaging	Het
Olfr1256	A	G	2: 89,835,396	L183P	probably damaging	Het
Olfr651	A	G	7: 104,553,573	Y218C	probably damaging	Het
Plcb4	A	G	2: 135,961,794	E529G	probably benign	Het
Prss32	A	T	17: 23,856,236	I187F	possibly damaging	Het
Prss55	A	T	14: 64,079,369	I108K	probably damaging	Het
Rcl1	A	G	19: 29,118,341	M109V	probably benign	Het
Rho	A	T	6: 115,935,197	M207L	possibly damaging	Het
Slc12a1	A	G	2: 125,170,691	D291G	probably damaging	Het
Slco2b1	A	C	7: 99,660,123		probably null	Het
Stx11	T	A	10: 12,941,917	D21V	possibly damaging	Het
Svep1	T	A	4: 58,115,807	Y962F	possibly damaging	Het
Tbx5	G	T	5: 119,836,907		probably benign	Het
Tcf12	C	A	9: 71,922,757	G141W	probably damaging	Het
Tmtc2	A	G	10: 105,370,546	M296T	probably damaging	Het
Trim13	T	A	14: 61,605,550	S339T	probably benign	Het
Usp40	A	G	1: 87,950,017	V1050A	probably benign	Het
Vmn2r86	T	G	10: 130,452,912	N240T	probably damaging	Het
Wdr36	T	C	18: 32,859,261	V617A	possibly damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wdr6	T	C	9: 108,575,505	Y393C	probably damaging	Het
Zfp619	A	T	7: 39,534,185		probably benign	Het

Other mutations in Ugt1a7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Ugt1a7c	APN	1	88095245	missense	probably damaging	0.97
IGL01973:Ugt1a7c	APN	1	88095134	missense	probably benign	0.00
IGL01990:Ugt1a7c	APN	1	88095602	missense	probably damaging	1.00
IGL02589:Ugt1a7c	APN	1	88095638	missense	probably benign	0.00
IGL03381:Ugt1a7c	APN	1	88095790	missense	probably benign	0.00
R1205:Ugt1a7c	UTSW	1	88095956	missense	probably benign	0.00
R1667:Ugt1a7c	UTSW	1	88095935	missense	probably damaging	0.97
R1706:Ugt1a7c	UTSW	1	88095725	missense	probably damaging	0.99
R1928:Ugt1a7c	UTSW	1	88095929	missense	probably benign	0.35
R3809:Ugt1a7c	UTSW	1	88095382	missense	possibly damaging	0.95
R4194:Ugt1a7c	UTSW	1	88095727	missense	possibly damaging	0.67
R4787:Ugt1a7c	UTSW	1	88095670	missense	probably damaging	0.99
R5291:Ugt1a7c	UTSW	1	88095509	missense	possibly damaging	0.48
R5473:Ugt1a7c	UTSW	1	88095437	missense	probably benign	0.21
R5871:Ugt1a7c	UTSW	1	88095659	missense	possibly damaging	0.50
R5934:Ugt1a7c	UTSW	1	88095879	missense	probably damaging	0.99
R6591:Ugt1a7c	UTSW	1	88095656	missense	possibly damaging	0.85
R6691:Ugt1a7c	UTSW	1	88095656	missense	possibly damaging	0.85
R7033:Ugt1a7c	UTSW	1	88095528	missense	possibly damaging	0.79
R8044:Ugt1a7c	UTSW	1	88095556	missense	probably damaging	1.00
R8342:Ugt1a7c	UTSW	1	88095251	missense	possibly damaging	0.83
R8357:Ugt1a7c	UTSW	1	88095356	missense	probably benign	0.02
R8457:Ugt1a7c	UTSW	1	88095356	missense	probably benign	0.02
R9363:Ugt1a7c	UTSW	1	88095894	missense	probably damaging	1.00
R9617:Ugt1a7c	UTSW	1	88095230	missense	probably damaging	1.00

Posted On

2015-04-16