Incidental Mutation 'IGL02589:Ugt1a7c'
| ID |
299649 |
| 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: 0.100)
|
| Stock # |
IGL02589
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
88022784-88147724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88023360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 173
(I173T)
|
| 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 |
probably benign
Transcript: ENSMUST00000058237
AA Change: I173T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: I173T
| 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: 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 |
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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
G |
6: 128,558,463 (GRCm39) |
I5L |
probably benign |
Het |
| Ang6 |
A |
G |
14: 44,239,419 (GRCm39) |
I103T |
possibly damaging |
Het |
| Arhgdib |
A |
G |
6: 136,910,576 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,733,722 (GRCm39) |
T1037M |
probably damaging |
Het |
| Bptf |
T |
C |
11: 107,002,357 (GRCm39) |
N252D |
possibly damaging |
Het |
| Capn2 |
T |
C |
1: 182,311,913 (GRCm39) |
Y387C |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,396,470 (GRCm39) |
D817A |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,940,244 (GRCm39) |
I318L |
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,914,691 (GRCm39) |
L255Q |
probably damaging |
Het |
| Ect2l |
T |
A |
10: 18,016,342 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,203,209 (GRCm39) |
V282A |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,917,372 (GRCm39) |
D3464G |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,999,495 (GRCm39) |
L18* |
probably null |
Het |
| Ggcx |
T |
C |
6: 72,406,131 (GRCm39) |
Y586H |
probably damaging |
Het |
| Gm5796 |
A |
T |
14: 15,379,030 (GRCm39) |
K24* |
probably null |
Het |
| Gnb4 |
C |
T |
3: 32,643,998 (GRCm39) |
V187M |
probably damaging |
Het |
| Gpt2 |
C |
T |
8: 86,242,795 (GRCm39) |
Q276* |
probably null |
Het |
| Idnk |
G |
T |
13: 58,311,239 (GRCm39) |
|
probably benign |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,683 (GRCm39) |
D94G |
possibly damaging |
Het |
| Ipo8 |
C |
A |
6: 148,711,405 (GRCm39) |
L294F |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,780,883 (GRCm39) |
D157V |
probably damaging |
Het |
| Kcnab3 |
A |
T |
11: 69,222,928 (GRCm39) |
I392L |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,945,471 (GRCm39) |
S761G |
possibly damaging |
Het |
| Kif21a |
G |
A |
15: 90,869,489 (GRCm39) |
T454M |
probably damaging |
Het |
| Lta4h |
A |
G |
10: 93,310,793 (GRCm39) |
N441S |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 64,986,773 (GRCm39) |
E595G |
probably benign |
Het |
| Micos13 |
T |
C |
17: 56,915,856 (GRCm39) |
E66G |
probably benign |
Het |
| Mvd |
T |
C |
8: 123,164,773 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,011,663 (GRCm39) |
|
probably null |
Het |
| Phf20l1 |
G |
T |
15: 66,487,481 (GRCm39) |
|
probably benign |
Het |
| Rdm1 |
A |
G |
11: 101,518,831 (GRCm39) |
S13G |
possibly damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Scn4a |
G |
T |
11: 106,218,958 (GRCm39) |
D953E |
probably benign |
Het |
| Sh2b1 |
A |
G |
7: 126,068,440 (GRCm39) |
I457T |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tagap |
C |
A |
17: 8,152,504 (GRCm39) |
T563K |
possibly damaging |
Het |
| Unc79 |
C |
T |
12: 103,139,755 (GRCm39) |
A2370V |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,901,480 (GRCm39) |
C536S |
probably damaging |
Het |
| Vmn2r53 |
G |
A |
7: 12,315,872 (GRCm39) |
T649I |
possibly damaging |
Het |
| Whrn |
G |
A |
4: 63,336,334 (GRCm39) |
Q301* |
probably null |
Het |
| Zfp1007 |
T |
A |
5: 109,826,386 (GRCm39) |
H62L |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
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 |
|
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 |
Incidental Mutation