Incidental Mutation 'R1221:Bap1'
| ID |
100131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bap1
|
| Ensembl Gene |
ENSMUSG00000021901 |
| Gene Name |
Brca1 associated protein 1 |
| Synonyms |
2300006C11Rik |
| MMRRC Submission |
039290-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1221 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30973407-30981901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30979608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 537
(L537P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022458]
[ENSMUST00000048603]
[ENSMUST00000187156]
[ENSMUST00000188453]
|
| AlphaFold |
Q99PU7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022458
AA Change: L537P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022458
Gene: ENSMUSG00000021901
AA Change: L537P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C12
|
5 |
215 |
3e-70 |
PFAM |
|
low complexity region
|
282 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048603
|
| SMART Domains |
Protein: ENSMUSP00000043281
Gene: ENSMUSG00000019027
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
Pfam:DHC_N2
|
998 |
1404 |
6.3e-146 |
PFAM |
|
AAA
|
1558 |
1697 |
6.02e-1 |
SMART |
|
AAA
|
1839 |
2077 |
4.66e0 |
SMART |
|
low complexity region
|
2149 |
2157 |
N/A |
INTRINSIC |
|
AAA
|
2204 |
2353 |
2.35e-1 |
SMART |
|
Pfam:AAA_8
|
2533 |
2803 |
7.7e-84 |
PFAM |
|
Pfam:MT
|
2815 |
3165 |
9.9e-57 |
PFAM |
|
Pfam:AAA_9
|
3185 |
3410 |
1.1e-93 |
PFAM |
|
Pfam:Dynein_heavy
|
3545 |
4246 |
2.7e-275 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187156
AA Change: Y62H
PolyPhen 2
Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139903
Gene: ENSMUSG00000021901
AA Change: Y62H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188453
|
| SMART Domains |
Protein: ENSMUSP00000139824
Gene: ENSMUSG00000021901
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C12
|
4 |
137 |
3.7e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228429
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous deletion of this gene causes delayed embryonic growth and complete lethality during organogenesis. Systemic or hematopoietic-restricted deletion in adults recapitulates features of myelodysplastic syndrome. Heterozygotes show increased incidence of asbestos-induced malignant mesothelioma. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,942,460 (GRCm39) |
S668P |
unknown |
Het |
| Anks1 |
A |
G |
17: 28,269,616 (GRCm39) |
Q770R |
possibly damaging |
Het |
| Apc2 |
G |
A |
10: 80,142,214 (GRCm39) |
V378I |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,969,808 (GRCm39) |
V184A |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,717 (GRCm39) |
F404S |
probably damaging |
Het |
| Bhlha15 |
A |
G |
5: 144,128,341 (GRCm39) |
Y151C |
probably damaging |
Het |
| Bmp8b |
A |
T |
4: 123,008,504 (GRCm39) |
T157S |
probably damaging |
Het |
| Btbd1 |
G |
T |
7: 81,468,005 (GRCm39) |
H172N |
possibly damaging |
Het |
| C1rl |
A |
G |
6: 124,470,940 (GRCm39) |
R83G |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,072,902 (GRCm39) |
T387A |
probably benign |
Het |
| Cfi |
A |
T |
3: 129,666,618 (GRCm39) |
Q447L |
probably damaging |
Het |
| Cimap1a |
G |
T |
7: 140,428,296 (GRCm39) |
W10L |
probably damaging |
Het |
| Coq6 |
A |
G |
12: 84,418,301 (GRCm39) |
E295G |
possibly damaging |
Het |
| Dclre1a |
T |
C |
19: 56,519,700 (GRCm39) |
T978A |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,051,985 (GRCm39) |
D582G |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,776,952 (GRCm39) |
T65A |
probably benign |
Het |
| Dock5 |
G |
A |
14: 67,996,610 (GRCm39) |
S1711L |
probably benign |
Het |
| Drc3 |
A |
C |
11: 60,275,052 (GRCm39) |
I338L |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,247,599 (GRCm39) |
C5* |
probably null |
Het |
| F5 |
A |
G |
1: 163,989,368 (GRCm39) |
Y90C |
probably damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm136 |
G |
T |
4: 34,744,127 (GRCm39) |
A239E |
possibly damaging |
Het |
| Gm4952 |
A |
T |
19: 12,601,059 (GRCm39) |
D93V |
possibly damaging |
Het |
| Gramd1c |
T |
C |
16: 43,810,227 (GRCm39) |
T454A |
possibly damaging |
Het |
| Gstm6 |
A |
G |
3: 107,848,418 (GRCm39) |
I58T |
probably damaging |
Het |
| Kdm3b |
C |
T |
18: 34,941,298 (GRCm39) |
S263L |
possibly damaging |
Het |
| Kdm5b |
G |
C |
1: 134,526,829 (GRCm39) |
S317T |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,777,546 (GRCm39) |
R71G |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,072,290 (GRCm39) |
P518S |
probably benign |
Het |
| Nme5 |
A |
T |
18: 34,704,575 (GRCm39) |
I90N |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,950,722 (GRCm39) |
T478S |
probably damaging |
Het |
| Or8g22 |
A |
C |
9: 38,958,483 (GRCm39) |
D77E |
probably damaging |
Het |
| Osmr |
G |
A |
15: 6,853,042 (GRCm39) |
Q617* |
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
| Pdpn |
G |
A |
4: 143,000,608 (GRCm39) |
R75C |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,018,725 (GRCm39) |
F842Y |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,719 (GRCm39) |
V255E |
probably benign |
Het |
| Sema3a |
A |
G |
5: 13,566,190 (GRCm39) |
Q158R |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,899,798 (GRCm39) |
R1290W |
probably damaging |
Het |
| Slc20a1 |
G |
A |
2: 129,050,324 (GRCm39) |
G494D |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,889,584 (GRCm39) |
E151G |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,086,567 (GRCm39) |
F351L |
probably benign |
Het |
| Tas1r2 |
A |
G |
4: 139,396,436 (GRCm39) |
M592V |
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,387,909 (GRCm39) |
T347A |
probably benign |
Het |
| Tmem109 |
C |
A |
19: 10,851,733 (GRCm39) |
R37L |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,045,871 (GRCm39) |
S862L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,781,857 (GRCm39) |
D1017V |
probably damaging |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,644,813 (GRCm39) |
S1130G |
possibly damaging |
Het |
|
| Other mutations in Bap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00328:Bap1
|
APN |
14 |
30,975,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02110:Bap1
|
APN |
14 |
30,979,371 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02740:Bap1
|
APN |
14 |
30,978,729 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02937:Bap1
|
APN |
14 |
30,980,284 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0138:Bap1
|
UTSW |
14 |
30,978,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Bap1
|
UTSW |
14 |
30,980,288 (GRCm39) |
nonsense |
probably null |
|
|
R2204:Bap1
|
UTSW |
14 |
30,978,658 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3781:Bap1
|
UTSW |
14 |
30,979,575 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4882:Bap1
|
UTSW |
14 |
30,973,678 (GRCm39) |
unclassified |
probably benign |
|
|
R4897:Bap1
|
UTSW |
14 |
30,980,402 (GRCm39) |
unclassified |
probably benign |
|
|
R5249:Bap1
|
UTSW |
14 |
30,979,243 (GRCm39) |
unclassified |
probably benign |
|
|
R6548:Bap1
|
UTSW |
14 |
30,978,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6990:Bap1
|
UTSW |
14 |
30,977,608 (GRCm39) |
missense |
probably benign |
|
|
R7203:Bap1
|
UTSW |
14 |
30,976,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Bap1
|
UTSW |
14 |
30,973,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7414:Bap1
|
UTSW |
14 |
30,975,572 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7956:Bap1
|
UTSW |
14 |
30,977,525 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8062:Bap1
|
UTSW |
14 |
30,979,465 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8070:Bap1
|
UTSW |
14 |
30,978,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Bap1
|
UTSW |
14 |
30,975,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCAATTCTTCAGATGGGCAGC -3'
(R):5'- TGGGTACACCAAGTGACCAGTGAG -3'
Sequencing Primer
(F):5'- TCTGTCCATCAAGACTAGCAGTG -3'
(R):5'- TGACCAGTGAGGGAGTCC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation