Incidental Mutation 'R3435:Pbxip1'
| ID |
267150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pbxip1
|
| Ensembl Gene |
ENSMUSG00000042613 |
| Gene Name |
pre B cell leukemia transcription factor interacting protein 1 |
| Synonyms |
4732463H20Rik |
| MMRRC Submission |
040653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R3435 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89344013-89358259 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89354543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 354
(L354P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038942]
[ENSMUST00000130858]
[ENSMUST00000145753]
[ENSMUST00000146630]
|
| AlphaFold |
Q3TVI8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038942
AA Change: L354P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040429
Gene: ENSMUSG00000042613
AA Change: L354P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
|
coiled coil region
|
270 |
350 |
N/A |
INTRINSIC |
|
coiled coil region
|
379 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
691 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
703 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130858
|
| SMART Domains |
Protein: ENSMUSP00000118496
Gene: ENSMUSG00000042613
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
149 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
184 |
N/A |
INTRINSIC |
|
transmembrane domain
|
194 |
216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145753
|
| SMART Domains |
Protein: ENSMUSP00000121658
Gene: ENSMUSG00000042613
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146630
|
| Meta Mutation Damage Score |
0.1041 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
C |
2: 68,432,189 (GRCm39) |
D91A |
unknown |
Het |
| Abca9 |
T |
C |
11: 110,045,256 (GRCm39) |
E359G |
probably benign |
Het |
| Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,038,631 (GRCm39) |
D150G |
probably damaging |
Het |
| Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
| Gm19965 |
C |
A |
1: 116,749,353 (GRCm39) |
H345N |
possibly damaging |
Het |
| Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,001,911 (GRCm39) |
I384V |
probably benign |
Het |
| Lrrc57 |
T |
A |
2: 120,439,862 (GRCm39) |
|
probably benign |
Het |
| Mafk |
C |
T |
5: 139,786,062 (GRCm39) |
Q87* |
probably null |
Het |
| Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
| Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,245,964 (GRCm39) |
V532A |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,637 (GRCm39) |
R293G |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,690 (GRCm39) |
Q138L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,050 (GRCm39) |
N149K |
possibly damaging |
Het |
| P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,178,772 (GRCm39) |
M889L |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,874,174 (GRCm39) |
Q52L |
possibly damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,294 (GRCm39) |
E320G |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,644 (GRCm39) |
L937Q |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,571,558 (GRCm39) |
S563P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,298,565 (GRCm39) |
D1114G |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,546,028 (GRCm39) |
V203E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,709,062 (GRCm39) |
|
probably benign |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
probably benign |
Het |
|
| Other mutations in Pbxip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Pbxip1
|
APN |
3 |
89,350,897 (GRCm39) |
splice site |
probably benign |
|
|
IGL02612:Pbxip1
|
APN |
3 |
89,350,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02718:Pbxip1
|
APN |
3 |
89,355,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Pbxip1
|
UTSW |
3 |
89,354,926 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0549:Pbxip1
|
UTSW |
3 |
89,350,899 (GRCm39) |
splice site |
probably benign |
|
|
R1460:Pbxip1
|
UTSW |
3 |
89,352,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Pbxip1
|
UTSW |
3 |
89,354,984 (GRCm39) |
splice site |
probably null |
|
|
R1966:Pbxip1
|
UTSW |
3 |
89,352,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Pbxip1
|
UTSW |
3 |
89,356,020 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4504:Pbxip1
|
UTSW |
3 |
89,353,690 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4591:Pbxip1
|
UTSW |
3 |
89,353,467 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5491:Pbxip1
|
UTSW |
3 |
89,350,466 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6051:Pbxip1
|
UTSW |
3 |
89,350,477 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6620:Pbxip1
|
UTSW |
3 |
89,355,133 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7203:Pbxip1
|
UTSW |
3 |
89,354,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7259:Pbxip1
|
UTSW |
3 |
89,352,940 (GRCm39) |
missense |
probably benign |
|
|
R7604:Pbxip1
|
UTSW |
3 |
89,352,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7687:Pbxip1
|
UTSW |
3 |
89,355,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7710:Pbxip1
|
UTSW |
3 |
89,355,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Pbxip1
|
UTSW |
3 |
89,353,648 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8218:Pbxip1
|
UTSW |
3 |
89,352,902 (GRCm39) |
missense |
probably benign |
|
|
R8754:Pbxip1
|
UTSW |
3 |
89,355,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8923:Pbxip1
|
UTSW |
3 |
89,352,921 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8951:Pbxip1
|
UTSW |
3 |
89,352,864 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9043:Pbxip1
|
UTSW |
3 |
89,350,794 (GRCm39) |
missense |
probably benign |
|
|
R9253:Pbxip1
|
UTSW |
3 |
89,351,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9398:Pbxip1
|
UTSW |
3 |
89,354,941 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9651:Pbxip1
|
UTSW |
3 |
89,352,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Pbxip1
|
UTSW |
3 |
89,355,056 (GRCm39) |
missense |
probably benign |
|
|
X0012:Pbxip1
|
UTSW |
3 |
89,353,690 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
X0012:Pbxip1
|
UTSW |
3 |
89,352,830 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Pbxip1
|
UTSW |
3 |
89,354,527 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTCAGAGCCTGTTGCACC -3'
(R):5'- ATGTGACCGAGTTCAGCCAG -3'
Sequencing Primer
(F):5'- TGTTGCACCAGCCCAAAGG -3'
(R):5'- AAGCCCCTCTGCAGGTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation