Incidental Mutation 'R4375:Ubap1'
| ID |
325063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubap1
|
| Ensembl Gene |
ENSMUSG00000028437 |
| Gene Name |
ubiquitin-associated protein 1 |
| Synonyms |
NAG20, 2700092A01Rik |
| MMRRC Submission |
041119-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41348996-41389766 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 41371850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072866]
[ENSMUST00000072866]
[ENSMUST00000108060]
[ENSMUST00000108060]
|
| AlphaFold |
Q8BH48 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072866
|
| SMART Domains |
Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
| 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: ENSMUST00000072866
|
| SMART Domains |
Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437
| 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 null
Transcript: ENSMUST00000108060
|
| SMART Domains |
Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437
| 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 null
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 |
probably null
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 |
probably null
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 |
probably null
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: ENSMUST00000136705
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154529
|
| Meta Mutation Damage Score |
0.9591 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,631,853 (GRCm39) |
|
probably benign |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap1 |
A |
G |
11: 101,073,079 (GRCm39) |
D561G |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,510 (GRCm39) |
T191A |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,909,403 (GRCm39) |
M1339L |
probably benign |
Het |
| Dpm3 |
T |
C |
3: 89,174,215 (GRCm39) |
Y59H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,258,405 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,699,685 (GRCm39) |
D577G |
probably benign |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Hsf2bp |
C |
T |
17: 32,206,322 (GRCm39) |
D270N |
probably null |
Het |
| Lactbl1 |
T |
C |
4: 136,364,902 (GRCm39) |
V418A |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,196,379 (GRCm39) |
M188L |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,619,992 (GRCm39) |
G760V |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or1l4 |
T |
A |
2: 37,091,574 (GRCm39) |
M107K |
probably benign |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or8c20 |
T |
C |
9: 38,260,465 (GRCm39) |
F23L |
probably benign |
Het |
| Pcdh17 |
T |
C |
14: 84,685,711 (GRCm39) |
V726A |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,487,071 (GRCm39) |
S369P |
probably benign |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Proser3 |
A |
G |
7: 30,240,096 (GRCm39) |
V336A |
possibly damaging |
Het |
| Rbbp8 |
C |
T |
18: 11,858,467 (GRCm39) |
T646M |
probably benign |
Het |
| Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,958,901 (GRCm39) |
W292* |
probably null |
Het |
| St14 |
T |
C |
9: 31,001,754 (GRCm39) |
I784V |
probably benign |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Strc |
A |
G |
2: 121,211,304 (GRCm39) |
S14P |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zfr |
T |
C |
15: 12,118,426 (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 |
|
IGL02535:Ubap1
|
APN |
4 |
41,379,667 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGTAAGCCATTGGAGAGG -3'
(R):5'- TACTAGGCACAGAAACGCAG -3'
Sequencing Primer
(F):5'- AATGAGTGTGTGTCAACTCAGC -3'
(R):5'- TACTAGGCACAGAAACGCAGAAAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation