Incidental Mutation 'R8457:Ugt1a7c'
ID |
655049 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt1a7c
|
Ensembl Gene |
ENSMUSG00000090124 |
Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A7C |
Synonyms |
A10' |
MMRRC Submission |
067834-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R8457 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
88022784-88147724 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88023078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 79
(V79A)
|
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: V79A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000058683 Gene: ENSMUSG00000090124 AA Change: V79A
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 |
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
A |
11: 46,030,939 (GRCm39) |
L813Q |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,066 (GRCm39) |
N961S |
probably damaging |
Het |
Arhgap42 |
A |
T |
9: 9,016,221 (GRCm39) |
S403T |
probably benign |
Het |
Cdkl1 |
T |
C |
12: 69,794,112 (GRCm39) |
T342A |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,096,985 (GRCm39) |
E1497G |
probably damaging |
Het |
Cldn11 |
T |
C |
3: 31,217,342 (GRCm39) |
V170A |
probably benign |
Het |
Cps1 |
T |
A |
1: 67,196,013 (GRCm39) |
F291I |
probably damaging |
Het |
Cpsf2 |
T |
A |
12: 101,968,929 (GRCm39) |
S722T |
probably damaging |
Het |
Creld1 |
T |
C |
6: 113,468,699 (GRCm39) |
|
probably null |
Het |
Dgki |
T |
A |
6: 36,827,891 (GRCm39) |
E1002V |
possibly damaging |
Het |
Disp3 |
T |
A |
4: 148,345,572 (GRCm39) |
I423F |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,165,227 (GRCm39) |
V1601A |
probably benign |
Het |
E4f1 |
G |
A |
17: 24,665,501 (GRCm39) |
A347V |
probably benign |
Het |
Epb41l1 |
G |
A |
2: 156,367,171 (GRCm39) |
R680Q |
probably benign |
Het |
Fcrl5 |
T |
G |
3: 87,351,567 (GRCm39) |
S272A |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,252,133 (GRCm39) |
D572V |
probably benign |
Het |
Gm21903 |
A |
T |
17: 39,354,211 (GRCm39) |
F8I |
unknown |
Het |
Grin2b |
A |
G |
6: 135,709,197 (GRCm39) |
S1450P |
probably benign |
Het |
Icos |
C |
A |
1: 61,033,015 (GRCm39) |
S71R |
probably damaging |
Het |
Ighv1-13 |
T |
A |
12: 114,594,452 (GRCm39) |
N51K |
unknown |
Het |
Ighv1-37 |
C |
T |
12: 114,860,245 (GRCm39) |
|
probably benign |
Het |
Il36g |
A |
G |
2: 24,078,661 (GRCm39) |
Y87C |
probably benign |
Het |
Irf7 |
T |
C |
7: 140,843,194 (GRCm39) |
N440D |
possibly damaging |
Het |
Ivns1abp |
T |
A |
1: 151,229,761 (GRCm39) |
L150M |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,553,828 (GRCm39) |
I990T |
probably damaging |
Het |
Kif23 |
A |
G |
9: 61,834,317 (GRCm39) |
|
probably null |
Het |
Lca5l |
T |
G |
16: 95,960,908 (GRCm39) |
K523T |
possibly damaging |
Het |
Mast3 |
A |
G |
8: 71,233,085 (GRCm39) |
F1076L |
probably benign |
Het |
Nek11 |
A |
T |
9: 105,225,191 (GRCm39) |
I107N |
probably damaging |
Het |
Nlrp12 |
T |
C |
7: 3,289,435 (GRCm39) |
H359R |
probably damaging |
Het |
Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
Or10q12 |
A |
T |
19: 13,745,721 (GRCm39) |
N5I |
probably benign |
Het |
Or8g36 |
A |
C |
9: 39,422,442 (GRCm39) |
N191K |
probably benign |
Het |
Rnf10 |
C |
A |
5: 115,410,320 (GRCm39) |
K51N |
possibly damaging |
Het |
Scap |
G |
A |
9: 110,210,354 (GRCm39) |
G921D |
probably benign |
Het |
Slc6a13 |
G |
A |
6: 121,303,063 (GRCm39) |
|
probably null |
Het |
Tk2 |
A |
T |
8: 104,963,450 (GRCm39) |
S140T |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,084,243 (GRCm39) |
Y249C |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,923,352 (GRCm39) |
S276R |
probably damaging |
Het |
Zfp410 |
T |
C |
12: 84,374,086 (GRCm39) |
V141A |
possibly 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 |
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 |
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'- CATGGCTCCTGCAGACTTTC -3'
(R):5'- TTAAGCCGCACACATCGAAAGG -3'
Sequencing Primer
(F):5'- CCTGCAGACTTTCCAGCC -3'
(R):5'- AGTCTGCTTCAAGTATTCCACTAAC -3'
|
Posted On |
2020-10-20 |