Incidental Mutation 'R5157:Upb1'
ID |
396786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Upb1
|
Ensembl Gene |
ENSMUSG00000033427 |
Gene Name |
ureidopropionase, beta |
Synonyms |
|
MMRRC Submission |
042739-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5157 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
75242745-75277513 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75248638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 53
(S53P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039925]
[ENSMUST00000145890]
[ENSMUST00000219052]
|
AlphaFold |
Q8VC97 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039925
AA Change: S48P
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000049342 Gene: ENSMUSG00000033427 AA Change: S48P
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 |
possibly damaging
Transcript: ENSMUST00000219052
AA Change: S53P
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.1347 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
100% (57/57) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
C |
T |
17: 24,627,096 (GRCm39) |
R1266C |
probably damaging |
Het |
Adap2 |
T |
C |
11: 80,047,772 (GRCm39) |
F76S |
probably damaging |
Het |
Adgb |
T |
A |
10: 10,274,710 (GRCm39) |
H747L |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,109,222 (GRCm39) |
V670D |
probably damaging |
Het |
Ap4e1 |
A |
G |
2: 126,903,615 (GRCm39) |
D839G |
probably benign |
Het |
Arhgef11 |
T |
A |
3: 87,635,817 (GRCm39) |
|
probably null |
Het |
AY074887 |
T |
C |
9: 54,858,102 (GRCm39) |
|
probably benign |
Het |
Bicd1 |
C |
G |
6: 149,421,912 (GRCm39) |
Q878E |
probably benign |
Het |
Catspere1 |
A |
T |
1: 177,707,348 (GRCm39) |
|
noncoding transcript |
Het |
Cnmd |
T |
C |
14: 79,894,126 (GRCm39) |
Q87R |
probably benign |
Het |
Col24a1 |
G |
T |
3: 145,051,712 (GRCm39) |
G661* |
probably null |
Het |
Crtap |
G |
A |
9: 114,213,860 (GRCm39) |
L232F |
probably damaging |
Het |
Ctsq |
T |
C |
13: 61,184,913 (GRCm39) |
T258A |
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,675,190 (GRCm39) |
Q388R |
probably benign |
Het |
Ddb1 |
A |
T |
19: 10,599,728 (GRCm39) |
T646S |
probably benign |
Het |
Dnah6 |
G |
T |
6: 73,172,617 (GRCm39) |
S280R |
probably benign |
Het |
Dzank1 |
T |
C |
2: 144,325,332 (GRCm39) |
H545R |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,585,261 (GRCm39) |
M207L |
probably benign |
Het |
Elmo2 |
T |
A |
2: 165,133,627 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,350,537 (GRCm39) |
A731T |
probably benign |
Het |
Igsf21 |
T |
C |
4: 139,755,378 (GRCm39) |
T426A |
possibly damaging |
Het |
Kcnf1 |
T |
C |
12: 17,224,742 (GRCm39) |
E493G |
probably benign |
Het |
Lmna |
A |
T |
3: 88,391,414 (GRCm39) |
D364E |
probably damaging |
Het |
Lsr |
T |
C |
7: 30,665,465 (GRCm39) |
Y163C |
probably damaging |
Het |
Map3k20 |
A |
T |
2: 72,268,558 (GRCm39) |
T522S |
probably benign |
Het |
Mroh9 |
C |
A |
1: 162,871,690 (GRCm39) |
A598S |
probably damaging |
Het |
Msln |
T |
C |
17: 25,971,957 (GRCm39) |
M87V |
probably benign |
Het |
Or14c39 |
A |
G |
7: 86,344,440 (GRCm39) |
K259E |
probably benign |
Het |
Or1e26 |
T |
C |
11: 73,480,549 (GRCm39) |
N5S |
probably damaging |
Het |
Or4a27 |
T |
A |
2: 88,559,892 (GRCm39) |
Q17L |
probably benign |
Het |
Or5d16 |
T |
A |
2: 87,773,232 (GRCm39) |
M247L |
probably benign |
Het |
Pals1 |
T |
A |
12: 78,867,589 (GRCm39) |
M324K |
possibly damaging |
Het |
Plekhg5 |
T |
A |
4: 152,192,322 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
G |
T |
19: 46,053,197 (GRCm39) |
|
probably benign |
Het |
Ptprm |
T |
A |
17: 67,264,092 (GRCm39) |
K385I |
probably benign |
Het |
Rfxap |
T |
A |
3: 54,711,938 (GRCm39) |
N215I |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,069,333 (GRCm39) |
Y114* |
probably null |
Het |
Smarcb1 |
G |
T |
10: 75,747,628 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
A |
15: 9,668,877 (GRCm39) |
R770* |
probably null |
Het |
Stard9 |
A |
T |
2: 120,528,342 (GRCm39) |
Y1533F |
probably benign |
Het |
Tbcd |
A |
T |
11: 121,500,853 (GRCm39) |
Y1142F |
probably benign |
Het |
Trappc2b |
A |
T |
11: 51,576,893 (GRCm39) |
S2T |
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Uba7 |
G |
A |
9: 107,857,246 (GRCm39) |
V703I |
probably benign |
Het |
Zfp672 |
A |
G |
11: 58,207,677 (GRCm39) |
S215P |
possibly damaging |
Het |
Zfp978 |
T |
A |
4: 147,475,437 (GRCm39) |
L328H |
probably damaging |
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 |
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 |
R6577:Upb1
|
UTSW |
10 |
75,248,723 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGCCCTGTACTGGAAGCTTTC -3'
(R):5'- GCCAGAGCCCGATTTATGTG -3'
Sequencing Primer
(F):5'- GAGACACCCTACAACTCTTTTTAATC -3'
(R):5'- CCAGAGCCCGATTTATGTGTGTATTG -3'
|
Posted On |
2016-06-21 |