Incidental Mutation 'R6577:Upb1'
| ID |
523545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upb1
|
| Ensembl Gene |
ENSMUSG00000033427 |
| Gene Name |
ureidopropionase, beta |
| Synonyms |
|
| MMRRC Submission |
044701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75242745-75277513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75248723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 81
(L81R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039925]
[ENSMUST00000145890]
[ENSMUST00000219052]
|
| AlphaFold |
Q8VC97 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039925
AA Change: L76R
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049342
Gene: ENSMUSG00000033427
AA Change: L76R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CN_hydrolase
|
73 |
352 |
8.3e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138058
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145890
|
| SMART Domains |
Protein: ENSMUSP00000123254
Gene: ENSMUSG00000033416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C39_2
|
20 |
206 |
2.6e-10 |
PFAM |
|
Pfam:Guanylate_cyc_2
|
22 |
210 |
4e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153125
|
| SMART Domains |
Protein: ENSMUSP00000117061
Gene: ENSMUSG00000033416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Guanylate_cyc_2
|
2 |
91 |
2.3e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219052
AA Change: L81R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.7790 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme that catalyzes the conversion of N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to beta-aminoisobutyric acid or beta-alanine. Mutations in the related gene in human have been associated with beta-ureidopropionase deficiency. [provided by RefSeq, Dec 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Api5 |
T |
C |
2: 94,252,726 (GRCm39) |
Y348C |
probably benign |
Het |
| Ark2n |
T |
C |
18: 77,740,855 (GRCm39) |
T285A |
probably benign |
Het |
| Arl14 |
A |
G |
3: 69,130,405 (GRCm39) |
E184G |
probably benign |
Het |
| Asap3 |
T |
C |
4: 135,965,541 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
A |
3: 35,893,311 (GRCm39) |
V36E |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,298,659 (GRCm39) |
S100N |
probably benign |
Het |
| Cd27 |
T |
C |
6: 125,213,756 (GRCm39) |
T34A |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,061,436 (GRCm39) |
S274P |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,147,206 (GRCm39) |
T484I |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracd |
A |
T |
5: 77,013,947 (GRCm39) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 124,183,449 (GRCm39) |
S304P |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,867,962 (GRCm39) |
V299M |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,384,861 (GRCm39) |
D850G |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,691,130 (GRCm39) |
N291S |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,922,138 (GRCm39) |
I563V |
probably benign |
Het |
| Hells |
C |
T |
19: 38,919,909 (GRCm39) |
Q20* |
probably null |
Het |
| Hid1 |
G |
C |
11: 115,245,462 (GRCm39) |
P448A |
possibly damaging |
Het |
| Igkv8-24 |
C |
T |
6: 70,193,947 (GRCm39) |
R87H |
possibly damaging |
Het |
| Irf6 |
A |
G |
1: 192,851,662 (GRCm39) |
S418G |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,301,420 (GRCm39) |
C424S |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,927,370 (GRCm39) |
|
probably null |
Het |
| Myo1a |
A |
T |
10: 127,551,189 (GRCm39) |
I678F |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 101,778,053 (GRCm39) |
|
probably null |
Het |
| Papolg |
GGACTTGGGATACTTACGCTTTG |
GG |
11: 23,829,857 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,901,153 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,108,867 (GRCm39) |
T623A |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,823,107 (GRCm39) |
N251D |
probably damaging |
Het |
| Skap1 |
T |
C |
11: 96,416,870 (GRCm39) |
Y52H |
probably damaging |
Het |
| Srp68 |
G |
A |
11: 116,156,290 (GRCm39) |
R113W |
probably damaging |
Het |
| Srsf12 |
T |
C |
4: 33,209,196 (GRCm39) |
|
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,526 (GRCm39) |
M312T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,262 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,710 (GRCm39) |
F304V |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,499,057 (GRCm39) |
L9F |
probably damaging |
Het |
| Tns3 |
G |
T |
11: 8,499,058 (GRCm39) |
D8E |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,829,473 (GRCm39) |
A765T |
probably damaging |
Het |
| Tut7 |
C |
T |
13: 59,955,975 (GRCm39) |
C45Y |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,465 (GRCm39) |
I276V |
probably benign |
Homo |
| Uros |
C |
A |
7: 133,302,569 (GRCm39) |
C73F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,384 (GRCm39) |
I315V |
probably benign |
Het |
|
| Other mutations in Upb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0419:Upb1
|
UTSW |
10 |
75,248,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Upb1
|
UTSW |
10 |
75,250,917 (GRCm39) |
splice site |
probably null |
|
|
R0469:Upb1
|
UTSW |
10 |
75,250,917 (GRCm39) |
splice site |
probably null |
|
|
R0565:Upb1
|
UTSW |
10 |
75,264,188 (GRCm39) |
unclassified |
probably benign |
|
|
R1109:Upb1
|
UTSW |
10 |
75,273,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Upb1
|
UTSW |
10 |
75,275,776 (GRCm39) |
missense |
probably benign |
|
|
R2001:Upb1
|
UTSW |
10 |
75,265,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Upb1
|
UTSW |
10 |
75,260,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2254:Upb1
|
UTSW |
10 |
75,272,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Upb1
|
UTSW |
10 |
75,272,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Upb1
|
UTSW |
10 |
75,275,672 (GRCm39) |
splice site |
probably null |
|
|
R4696:Upb1
|
UTSW |
10 |
75,250,861 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5157:Upb1
|
UTSW |
10 |
75,248,638 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5723:Upb1
|
UTSW |
10 |
75,264,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6292:Upb1
|
UTSW |
10 |
75,274,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6335:Upb1
|
UTSW |
10 |
75,264,135 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6756:Upb1
|
UTSW |
10 |
75,264,135 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6765:Upb1
|
UTSW |
10 |
75,273,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Upb1
|
UTSW |
10 |
75,248,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7094:Upb1
|
UTSW |
10 |
75,274,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Upb1
|
UTSW |
10 |
75,272,035 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7617:Upb1
|
UTSW |
10 |
75,260,368 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7836:Upb1
|
UTSW |
10 |
75,248,667 (GRCm39) |
nonsense |
probably null |
|
|
R8743:Upb1
|
UTSW |
10 |
75,275,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:Upb1
|
UTSW |
10 |
75,264,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8936:Upb1
|
UTSW |
10 |
75,250,827 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9156:Upb1
|
UTSW |
10 |
75,265,961 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGGCGTTCGGTATAATCAG -3'
(R):5'- AAGGGGCACTTTCTCAGCTG -3'
Sequencing Primer
(F):5'- CGTTCGGTATAATCAGACTCTTTG -3'
(R):5'- GGCACTTTCTCAGCTGGTAAATGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation