Incidental Mutation 'IGL02981:Banp'
| ID |
406560 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Banp
|
| Ensembl Gene |
ENSMUSG00000025316 |
| Gene Name |
BTG3 associated nuclear protein |
| Synonyms |
SMAR1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
IGL02981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
122676489-122755997 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122705303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 58
(Y58H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026354]
[ENSMUST00000093078]
[ENSMUST00000127664]
[ENSMUST00000170857]
[ENSMUST00000172511]
[ENSMUST00000172628]
[ENSMUST00000173254]
[ENSMUST00000174753]
[ENSMUST00000172681]
[ENSMUST00000174445]
|
| AlphaFold |
Q8VBU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026354
AA Change: Y58H
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026354
Gene: ENSMUSG00000025316
AA Change: Y58H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
61 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
|
BEN
|
218 |
291 |
6.7e-21 |
SMART |
|
low complexity region
|
301 |
315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093078
AA Change: Y58H
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090766
Gene: ENSMUSG00000025316
AA Change: Y58H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
61 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
|
BEN
|
218 |
291 |
6.7e-21 |
SMART |
|
low complexity region
|
301 |
315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170857
AA Change: Y58H
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132095
Gene: ENSMUSG00000025316
AA Change: Y58H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
61 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
196 |
N/A |
INTRINSIC |
|
BEN
|
257 |
330 |
6.7e-21 |
SMART |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172511
AA Change: Y58H
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133365
Gene: ENSMUSG00000025316
AA Change: Y58H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
61 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172513
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172628
AA Change: Y96H
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133342
Gene: ENSMUSG00000025316
AA Change: Y96H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
coiled coil region
|
99 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173254
AA Change: Y58H
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133783
Gene: ENSMUSG00000025316
AA Change: Y58H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
61 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
196 |
N/A |
INTRINSIC |
|
BEN
|
257 |
330 |
6.7e-21 |
SMART |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174753
|
| SMART Domains |
Protein: ENSMUSP00000134058
Gene: ENSMUSG00000025316
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
52 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174445
|
| 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 encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
G |
2: 150,675,044 (GRCm39) |
S392P |
probably benign |
Het |
| Adam23 |
G |
A |
1: 63,610,112 (GRCm39) |
V705I |
probably damaging |
Het |
| Ank2 |
T |
G |
3: 126,728,211 (GRCm39) |
D794A |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,965,305 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
A |
G |
18: 80,797,504 (GRCm39) |
V857A |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,171 (GRCm39) |
N999Y |
probably benign |
Het |
| Cd14 |
T |
C |
18: 36,859,532 (GRCm39) |
|
probably benign |
Het |
| Crmp1 |
T |
C |
5: 37,443,770 (GRCm39) |
I447T |
probably damaging |
Het |
| Dip2a |
A |
G |
10: 76,112,255 (GRCm39) |
V1090A |
possibly damaging |
Het |
| Ep400 |
T |
A |
5: 110,903,969 (GRCm39) |
H210L |
possibly damaging |
Het |
| Ep400 |
T |
A |
5: 110,839,476 (GRCm39) |
|
probably benign |
Het |
| Fam243 |
T |
C |
16: 92,117,757 (GRCm39) |
N177S |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,573,862 (GRCm39) |
F97L |
probably benign |
Het |
| Fut8 |
C |
A |
12: 77,521,812 (GRCm39) |
P484T |
probably damaging |
Het |
| Golph3 |
A |
G |
15: 12,349,550 (GRCm39) |
E190G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,815,670 (GRCm39) |
D1472E |
possibly damaging |
Het |
| Hnrnpdl |
T |
C |
5: 100,184,958 (GRCm39) |
I298V |
possibly damaging |
Het |
| Jakmip2 |
C |
A |
18: 43,695,595 (GRCm39) |
|
probably null |
Het |
| Kcnj5 |
G |
A |
9: 32,233,877 (GRCm39) |
T146I |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,809,496 (GRCm39) |
F389V |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,817,532 (GRCm39) |
S577P |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 69,938,969 (GRCm39) |
V114A |
probably damaging |
Het |
| Or10a2 |
C |
A |
7: 106,673,758 (GRCm39) |
T241N |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,678,714 (GRCm39) |
G901R |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,240,656 (GRCm39) |
Y15H |
probably damaging |
Het |
| Pdp2 |
T |
C |
8: 105,320,267 (GRCm39) |
W39R |
probably benign |
Het |
| Poc5 |
T |
C |
13: 96,538,265 (GRCm39) |
|
probably null |
Het |
| Pou3f1 |
A |
G |
4: 124,552,236 (GRCm39) |
D246G |
probably damaging |
Het |
| Pramel5 |
T |
A |
4: 143,999,430 (GRCm39) |
Y219F |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,532,748 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,676,670 (GRCm39) |
K678E |
probably damaging |
Het |
| Rps2 |
T |
C |
17: 24,940,698 (GRCm39) |
F271L |
probably benign |
Het |
| Serpina3k |
C |
A |
12: 104,307,250 (GRCm39) |
Q161K |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 33,155,589 (GRCm39) |
T101A |
probably benign |
Het |
| Tprkb |
T |
A |
6: 85,904,861 (GRCm39) |
D112E |
probably benign |
Het |
| Tubal3 |
A |
G |
13: 3,983,257 (GRCm39) |
T346A |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,193,112 (GRCm39) |
F409S |
possibly damaging |
Het |
| Zbtb6 |
G |
A |
2: 37,319,176 (GRCm39) |
Q251* |
probably null |
Het |
|
| Other mutations in Banp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02423:Banp
|
APN |
8 |
122,733,830 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4418001:Banp
|
UTSW |
8 |
122,732,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0926:Banp
|
UTSW |
8 |
122,747,294 (GRCm39) |
missense |
probably benign |
|
|
R1209:Banp
|
UTSW |
8 |
122,702,656 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1635:Banp
|
UTSW |
8 |
122,727,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Banp
|
UTSW |
8 |
122,705,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2269:Banp
|
UTSW |
8 |
122,702,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3052:Banp
|
UTSW |
8 |
122,732,426 (GRCm39) |
splice site |
probably null |
|
|
R5155:Banp
|
UTSW |
8 |
122,727,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Banp
|
UTSW |
8 |
122,718,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Banp
|
UTSW |
8 |
122,718,176 (GRCm39) |
splice site |
probably null |
|
|
R7376:Banp
|
UTSW |
8 |
122,701,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7468:Banp
|
UTSW |
8 |
122,676,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7646:Banp
|
UTSW |
8 |
122,750,775 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7702:Banp
|
UTSW |
8 |
122,705,326 (GRCm39) |
nonsense |
probably null |
|
|
R7832:Banp
|
UTSW |
8 |
122,747,291 (GRCm39) |
missense |
probably benign |
|
|
R8784:Banp
|
UTSW |
8 |
122,727,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8793:Banp
|
UTSW |
8 |
122,750,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9005:Banp
|
UTSW |
8 |
122,705,441 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9106:Banp
|
UTSW |
8 |
122,705,372 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9790:Banp
|
UTSW |
8 |
122,701,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9791:Banp
|
UTSW |
8 |
122,701,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation