Incidental Mutation 'IGL02535:Ubap1'
| ID |
297450 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubap1
|
| Ensembl Gene |
ENSMUSG00000028437 |
| Gene Name |
ubiquitin-associated protein 1 |
| Synonyms |
NAG20, 2700092A01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02535
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
41348996-41389766 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 41379667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 294
(R294*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072866]
[ENSMUST00000108060]
|
| AlphaFold |
Q8BH48 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072866
AA Change: R294*
|
| SMART Domains |
Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
AA Change: R294*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
64 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
|
SCOP:d1ifya_
|
387 |
430 |
5e-10 |
SMART |
|
PDB:4AE4|B
|
388 |
502 |
1e-74 |
PDB |
|
Blast:UBA
|
392 |
428 |
7e-14 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108060
AA Change: R294*
|
| SMART Domains |
Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437
AA Change: R294*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
64 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
|
PDB:4AE4|B
|
362 |
441 |
2e-50 |
PDB |
|
SCOP:d1exja1
|
394 |
437 |
1e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132235
|
| SMART Domains |
Protein: ENSMUSP00000123491
Gene: ENSMUSG00000028437
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ifya_
|
68 |
111 |
2e-11 |
SMART |
|
PDB:4AE4|B
|
69 |
140 |
2e-44 |
PDB |
|
Blast:UBA
|
73 |
109 |
7e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154529
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
T |
6: 142,574,152 (GRCm39) |
D993E |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,773,520 (GRCm39) |
N430D |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,807,136 (GRCm39) |
D486E |
possibly damaging |
Het |
| Adh6a |
A |
G |
3: 138,033,151 (GRCm39) |
N281D |
probably benign |
Het |
| Apon |
A |
T |
10: 128,090,823 (GRCm39) |
E167V |
probably damaging |
Het |
| Bahcc1 |
T |
A |
11: 120,178,362 (GRCm39) |
M2307K |
possibly damaging |
Het |
| Cdca3 |
A |
G |
6: 124,807,521 (GRCm39) |
T10A |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,204,322 (GRCm39) |
V65G |
probably damaging |
Het |
| Dusp16 |
T |
C |
6: 134,695,790 (GRCm39) |
E347G |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,126,679 (GRCm39) |
Y1298F |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,574,157 (GRCm39) |
D25G |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,026,302 (GRCm39) |
S1625T |
probably damaging |
Het |
| Fbxl2 |
T |
C |
9: 113,808,575 (GRCm39) |
E372G |
probably benign |
Het |
| Flrt1 |
T |
C |
19: 7,074,098 (GRCm39) |
I150V |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,756,367 (GRCm39) |
I453F |
possibly damaging |
Het |
| Hivep2 |
C |
T |
10: 14,015,241 (GRCm39) |
R1803C |
probably damaging |
Het |
| Il33 |
A |
G |
19: 29,930,147 (GRCm39) |
N81D |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,653,233 (GRCm39) |
Y977H |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,824,927 (GRCm39) |
V1514A |
probably benign |
Het |
| Map1a |
C |
A |
2: 121,132,658 (GRCm39) |
S920* |
probably null |
Het |
| Nlrp9c |
T |
C |
7: 26,071,522 (GRCm39) |
N862S |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,442 (GRCm39) |
V237A |
probably benign |
Het |
| Or8k22 |
A |
G |
2: 86,163,019 (GRCm39) |
M227T |
probably damaging |
Het |
| Or9s23 |
C |
A |
1: 92,500,943 (GRCm39) |
Q17K |
probably benign |
Het |
| P2rx2 |
T |
A |
5: 110,490,219 (GRCm39) |
T134S |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,840,245 (GRCm39) |
D77G |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,367,522 (GRCm39) |
R1240* |
probably null |
Het |
| Radx |
A |
T |
X: 138,393,396 (GRCm39) |
K217I |
probably damaging |
Het |
| Slc22a8 |
A |
T |
19: 8,587,567 (GRCm39) |
T514S |
probably benign |
Het |
| Slc39a5 |
T |
C |
10: 128,235,199 (GRCm39) |
D136G |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,950,222 (GRCm39) |
|
probably null |
Het |
| Trav8d-2 |
A |
T |
14: 53,280,141 (GRCm39) |
S44C |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,359 (GRCm39) |
N347S |
probably benign |
Het |
| Ube2o |
C |
T |
11: 116,432,591 (GRCm39) |
V792M |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,892,075 (GRCm39) |
S85G |
probably benign |
Het |
| Vmac |
C |
T |
17: 57,022,550 (GRCm39) |
M61I |
probably benign |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,260 (GRCm39) |
I58N |
possibly damaging |
Het |
| Zmym5 |
A |
G |
14: 57,035,123 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ubap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00840:Ubap1
|
APN |
4 |
41,379,562 (GRCm39) |
missense |
probably benign |
|
|
IGL01413:Ubap1
|
APN |
4 |
41,387,333 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01418:Ubap1
|
APN |
4 |
41,387,333 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01867:Ubap1
|
APN |
4 |
41,379,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0090:Ubap1
|
UTSW |
4 |
41,379,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0980:Ubap1
|
UTSW |
4 |
41,379,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1941:Ubap1
|
UTSW |
4 |
41,378,968 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2049:Ubap1
|
UTSW |
4 |
41,379,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2142:Ubap1
|
UTSW |
4 |
41,379,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2310:Ubap1
|
UTSW |
4 |
41,379,341 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3508:Ubap1
|
UTSW |
4 |
41,379,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Ubap1
|
UTSW |
4 |
41,371,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4375:Ubap1
|
UTSW |
4 |
41,371,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5053:Ubap1
|
UTSW |
4 |
41,387,315 (GRCm39) |
nonsense |
probably null |
|
|
R5121:Ubap1
|
UTSW |
4 |
41,379,688 (GRCm39) |
missense |
probably benign |
|
|
R6137:Ubap1
|
UTSW |
4 |
41,379,262 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6820:Ubap1
|
UTSW |
4 |
41,379,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7393:Ubap1
|
UTSW |
4 |
41,379,764 (GRCm39) |
nonsense |
probably null |
|
|
R8923:Ubap1
|
UTSW |
4 |
41,379,170 (GRCm39) |
missense |
probably benign |
|
|
R9096:Ubap1
|
UTSW |
4 |
41,379,872 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation