Incidental Mutation 'IGL02625:Ugt1a7c'
ID |
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: 0.097)
|
Stock # |
IGL02625
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
88022784-88147724 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88023239 bp (GRCm39)
|
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]
[ENSMUST00000173325]
[ENSMUST00000150634]
|
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 |
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 |
|
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: 99,634,584 (GRCm39) |
C109S |
probably damaging |
Het |
Arhgdia |
C |
A |
11: 120,471,039 (GRCm39) |
E53D |
probably benign |
Het |
Ccr4 |
A |
C |
9: 114,321,401 (GRCm39) |
C221W |
probably damaging |
Het |
Ces2a |
G |
A |
8: 105,466,910 (GRCm39) |
|
probably null |
Het |
Chpf2 |
G |
T |
5: 24,796,709 (GRCm39) |
E552* |
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnmt1 |
C |
T |
9: 20,838,442 (GRCm39) |
R207H |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,451,168 (GRCm39) |
|
probably null |
Het |
Esr1 |
A |
T |
10: 4,951,346 (GRCm39) |
T575S |
probably benign |
Het |
Fancc |
A |
G |
13: 63,545,965 (GRCm39) |
C93R |
probably damaging |
Het |
Foxj3 |
A |
T |
4: 119,482,114 (GRCm39) |
R523W |
unknown |
Het |
Fryl |
C |
T |
5: 73,227,220 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
C |
2: 82,779,836 (GRCm39) |
H194P |
probably benign |
Het |
Gaa |
G |
A |
11: 119,165,559 (GRCm39) |
V350I |
probably damaging |
Het |
Gpn3 |
T |
A |
5: 122,519,257 (GRCm39) |
I152N |
probably damaging |
Het |
H2-M10.3 |
T |
A |
17: 36,678,417 (GRCm39) |
H136L |
probably benign |
Het |
H4c16 |
C |
T |
6: 136,781,335 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,239,953 (GRCm39) |
D507G |
probably damaging |
Het |
Jcad |
A |
G |
18: 4,674,422 (GRCm39) |
E728G |
probably benign |
Het |
Kat14 |
G |
A |
2: 144,244,365 (GRCm39) |
R406H |
possibly damaging |
Het |
Kcnma1 |
G |
T |
14: 23,413,900 (GRCm39) |
D863E |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,410,355 (GRCm39) |
Y1464H |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,893,485 (GRCm39) |
S584P |
probably damaging |
Het |
Nlrp4f |
G |
A |
13: 65,347,085 (GRCm39) |
L58F |
probably damaging |
Het |
Nlrp6 |
A |
G |
7: 140,503,413 (GRCm39) |
I506M |
probably benign |
Het |
Nudt17 |
G |
A |
3: 96,613,780 (GRCm39) |
R266W |
probably damaging |
Het |
Or4a47 |
A |
G |
2: 89,665,740 (GRCm39) |
L183P |
probably damaging |
Het |
Or4a69 |
A |
G |
2: 89,313,018 (GRCm39) |
S154P |
probably damaging |
Het |
Or52h9 |
A |
G |
7: 104,202,780 (GRCm39) |
Y218C |
probably damaging |
Het |
Plcb4 |
A |
G |
2: 135,803,714 (GRCm39) |
E529G |
probably benign |
Het |
Prss32 |
A |
T |
17: 24,075,210 (GRCm39) |
I187F |
possibly damaging |
Het |
Prss55 |
A |
T |
14: 64,316,818 (GRCm39) |
I108K |
probably damaging |
Het |
Rcl1 |
A |
G |
19: 29,095,741 (GRCm39) |
M109V |
probably benign |
Het |
Rho |
A |
T |
6: 115,912,158 (GRCm39) |
M207L |
possibly damaging |
Het |
Slc12a1 |
A |
G |
2: 125,012,611 (GRCm39) |
D291G |
probably damaging |
Het |
Slco2b1 |
A |
C |
7: 99,309,330 (GRCm39) |
|
probably null |
Het |
Stx11 |
T |
A |
10: 12,817,661 (GRCm39) |
D21V |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,115,807 (GRCm39) |
Y962F |
possibly damaging |
Het |
Tbx5 |
G |
T |
5: 119,974,972 (GRCm39) |
|
probably benign |
Het |
Tcf12 |
C |
A |
9: 71,830,039 (GRCm39) |
G141W |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,206,407 (GRCm39) |
M296T |
probably damaging |
Het |
Trim13 |
T |
A |
14: 61,842,999 (GRCm39) |
S339T |
probably benign |
Het |
Usp40 |
A |
G |
1: 87,877,739 (GRCm39) |
V1050A |
probably benign |
Het |
Vmn2r86 |
T |
G |
10: 130,288,781 (GRCm39) |
N240T |
probably damaging |
Het |
Wdr36 |
T |
C |
18: 32,992,314 (GRCm39) |
V617A |
possibly damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Wdr6 |
T |
C |
9: 108,452,704 (GRCm39) |
Y393C |
probably damaging |
Het |
Zfp619 |
A |
T |
7: 39,183,609 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |