Incidental Mutation 'IGL01115:Ugt1a7c'
| ID |
50294 |
| 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 # |
IGL01115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
88022784-88147724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88022967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 42
(Q42L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116653
(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: Q42L
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: Q42L
| 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 damaging
Transcript: ENSMUST00000126203
AA Change: Q42L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124
AA Change: Q42L
| 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 |
unknown
Transcript: ENSMUST00000150634
AA Change: Q42L
|
| SMART Domains |
Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124
AA Change: Q42L
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,352 (GRCm39) |
T934A |
probably benign |
Het |
| Ankzf1 |
T |
C |
1: 75,169,259 (GRCm39) |
L55P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,883,131 (GRCm39) |
S336P |
probably damaging |
Het |
| Bmper |
T |
C |
9: 23,310,985 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
A |
G |
6: 17,654,122 (GRCm39) |
N58S |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,146 (GRCm39) |
V75A |
probably damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,772 (GRCm39) |
S181P |
probably damaging |
Het |
| Colq |
A |
G |
14: 31,267,085 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,911,246 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
G |
8: 107,605,320 (GRCm39) |
T509A |
probably benign |
Het |
| Hsh2d |
T |
C |
8: 72,954,463 (GRCm39) |
S282P |
probably damaging |
Het |
| Impg2 |
C |
T |
16: 56,079,803 (GRCm39) |
P536S |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,580,228 (GRCm39) |
|
probably null |
Het |
| Napb |
T |
C |
2: 148,549,089 (GRCm39) |
Y111C |
probably damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,728 (GRCm39) |
D121G |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,876,682 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,347,210 (GRCm39) |
T1002A |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,284,068 (GRCm39) |
W122R |
probably damaging |
Het |
| Prpf19 |
C |
T |
19: 10,877,567 (GRCm39) |
T204M |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,695,796 (GRCm39) |
|
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,272,493 (GRCm39) |
D402E |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,916,422 (GRCm39) |
N1176S |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,346 (GRCm39) |
T1698A |
probably benign |
Het |
| Spata6l |
T |
C |
19: 28,921,842 (GRCm39) |
|
probably null |
Het |
| Speer2 |
C |
T |
16: 69,658,539 (GRCm39) |
W42* |
probably null |
Het |
| Taf5 |
T |
C |
19: 47,063,521 (GRCm39) |
V357A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,270 (GRCm39) |
S55P |
probably benign |
Het |
| Tmem115 |
T |
A |
9: 107,411,781 (GRCm39) |
L35Q |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,096,480 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,152 (GRCm39) |
D678G |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,258,492 (GRCm39) |
V4099E |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,176,786 (GRCm39) |
L11F |
probably damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,554 (GRCm39) |
K193* |
probably null |
Het |
| Zranb2 |
T |
C |
3: 157,252,328 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ugt1a7c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation