Incidental Mutation 'R6691:Ugt1a7c'
| ID |
530401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt1a7c
|
| Ensembl Gene |
ENSMUSG00000090124 |
| Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A7C |
| Synonyms |
A10' |
| MMRRC Submission |
044809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R6691 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
88022784-88147724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88023378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 179
(E179G)
|
| 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: E179G
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: E179G
| 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173165
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Calcoco2 |
A |
G |
11: 95,990,934 (GRCm39) |
S247P |
unknown |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCAGCCAAAGGTTTCTTCG -3'
(R):5'- GGTCTGTCATAGTCACTGGG -3'
Sequencing Primer
(F):5'- CCAGCCAAAGGTTTCTTCGAATTAC -3'
(R):5'- CACTGGGGTCTGGAGAACTTCAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation