Incidental Mutation 'R6756:Upb1'
| ID |
531062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upb1
|
| Ensembl Gene |
ENSMUSG00000033427 |
| Gene Name |
ureidopropionase, beta |
| Synonyms |
|
| MMRRC Submission |
044872-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6756 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
75242745-75277513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75264135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 194
(T194A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049342
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039925]
[ENSMUST00000145890]
[ENSMUST00000219052]
|
| AlphaFold |
Q8VC97 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039925
AA Change: T194A
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049342
Gene: ENSMUSG00000033427
AA Change: T194A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CN_hydrolase
|
73 |
352 |
8.3e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129946
|
| 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 benign
Transcript: ENSMUST00000219052
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,298,512 (GRCm39) |
|
probably null |
Het |
| Adam7 |
T |
C |
14: 68,762,728 (GRCm39) |
T166A |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,925 (GRCm39) |
V2070M |
possibly damaging |
Het |
| Atp6v1a |
T |
A |
16: 43,909,421 (GRCm39) |
T537S |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,361,895 (GRCm39) |
E719K |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,775,820 (GRCm39) |
L192P |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,385,080 (GRCm39) |
T250A |
probably damaging |
Het |
| Fra10ac1 |
A |
C |
19: 38,204,313 (GRCm39) |
Y88D |
probably damaging |
Het |
| Gm21738 |
C |
T |
14: 19,418,824 (GRCm38) |
V35I |
possibly damaging |
Het |
| H2-M9 |
G |
T |
17: 36,953,227 (GRCm39) |
H27N |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,008,303 (GRCm39) |
C1634R |
probably damaging |
Het |
| Meiob |
A |
T |
17: 25,058,506 (GRCm39) |
T470S |
possibly damaging |
Het |
| Ms4a7 |
T |
C |
19: 11,301,889 (GRCm39) |
H35R |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,335,413 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
C |
11: 6,165,153 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,277,078 (GRCm39) |
D68G |
possibly damaging |
Het |
| Or51a25 |
T |
C |
7: 102,373,295 (GRCm39) |
N134S |
probably benign |
Het |
| Pcdh10 |
T |
C |
3: 45,334,541 (GRCm39) |
V285A |
possibly damaging |
Het |
| Phldb2 |
A |
T |
16: 45,628,683 (GRCm39) |
C550S |
probably benign |
Het |
| Phldb3 |
T |
C |
7: 24,326,756 (GRCm39) |
Y595H |
probably damaging |
Het |
| Plekha8 |
C |
T |
6: 54,601,125 (GRCm39) |
Q288* |
probably null |
Het |
| Ppp1r36 |
G |
A |
12: 76,474,696 (GRCm39) |
A64T |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,873,536 (GRCm39) |
T1320A |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Recql4 |
T |
C |
15: 76,589,059 (GRCm39) |
D943G |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 87,094,529 (GRCm39) |
I330T |
probably benign |
Het |
| Srcin1 |
T |
C |
11: 97,425,836 (GRCm39) |
D433G |
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 |
|
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 |
|
R6577:Upb1
|
UTSW |
10 |
75,248,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGTGAAAGAGTAACAATCTACCCG -3'
(R):5'- CATGCTGCTAAAAGGTTTTGTG -3'
Sequencing Primer
(F):5'- CCCGAAAGAGAACATGATGGTTTTC -3'
(R):5'- CTGTGTGATGCAGGGCAAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation