Incidental Mutation 'R4516:Bean1'
| ID |
332920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bean1
|
| Ensembl Gene |
ENSMUSG00000031872 |
| Gene Name |
brain expressed, associated with Nedd4, 1 |
| Synonyms |
|
| MMRRC Submission |
041760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4516 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
104897110-104945730 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104941786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 211
(S211P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093245]
[ENSMUST00000164076]
[ENSMUST00000167633]
[ENSMUST00000171018]
[ENSMUST00000212979]
[ENSMUST00000213077]
|
| AlphaFold |
Q9EQG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093245
AA Change: S140P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090931
Gene: ENSMUSG00000031872
AA Change: S140P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
232 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164076
AA Change: S79P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132056
Gene: ENSMUSG00000031872
AA Change: S79P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167633
AA Change: S140P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131530
Gene: ENSMUSG00000031872
AA Change: S140P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
232 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171018
AA Change: S211P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129403
Gene: ENSMUSG00000031872
AA Change: S211P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
72 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212627
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212979
AA Change: S211P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213077
AA Change: S35P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0803 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.9%
|
| Validation Efficiency |
86% (51/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null targeted allele are viable and fertile and exhibit no apparent abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
T |
C |
3: 36,949,460 (GRCm39) |
S369P |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,177 (GRCm39) |
S552P |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,400,594 (GRCm39) |
T125A |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,194,952 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,294,227 (GRCm39) |
Y224* |
probably null |
Het |
| Cfap46 |
G |
A |
7: 139,239,998 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
G |
A |
2: 35,017,993 (GRCm39) |
V468I |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,576,148 (GRCm39) |
V2071I |
possibly damaging |
Het |
| Coq7 |
A |
T |
7: 118,109,130 (GRCm39) |
L306Q |
unknown |
Het |
| D7Ertd443e |
C |
G |
7: 133,895,057 (GRCm39) |
Q591H |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,404,059 (GRCm39) |
V2828M |
probably damaging |
Het |
| Dzank1 |
T |
A |
2: 144,352,042 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
C |
T |
13: 20,467,084 (GRCm39) |
T235I |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,785,326 (GRCm39) |
F492I |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,231,671 (GRCm39) |
S90G |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 97,986,061 (GRCm39) |
|
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Got1 |
T |
C |
19: 43,493,280 (GRCm39) |
Y243C |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,855,345 (GRCm39) |
M673K |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,628,415 (GRCm39) |
D1502E |
probably damaging |
Het |
| Limk1 |
A |
G |
5: 134,705,640 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,758,745 (GRCm39) |
Y242C |
probably damaging |
Het |
| Naa12 |
G |
A |
18: 80,254,791 (GRCm39) |
M28I |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,157,824 (GRCm39) |
V354A |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,217,130 (GRCm39) |
D1380G |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,057,233 (GRCm39) |
T280S |
probably damaging |
Het |
| Or1e29 |
C |
T |
11: 73,667,866 (GRCm39) |
G96S |
probably benign |
Het |
| Or4c15b |
T |
A |
2: 89,113,187 (GRCm39) |
M118L |
probably benign |
Het |
| Pax7 |
T |
G |
4: 139,508,104 (GRCm39) |
D307A |
probably benign |
Het |
| Pdxdc1 |
G |
A |
16: 13,656,210 (GRCm39) |
Q621* |
probably null |
Het |
| Rab29 |
A |
T |
1: 131,795,469 (GRCm39) |
Y27F |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,548,165 (GRCm39) |
T278A |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc47a1 |
T |
C |
11: 61,235,339 (GRCm39) |
H498R |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,517,200 (GRCm39) |
|
probably benign |
Het |
| Tas2r116 |
T |
C |
6: 132,833,113 (GRCm39) |
L238P |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,782,364 (GRCm39) |
R252* |
probably null |
Het |
| Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
| Tmem106b |
C |
T |
6: 13,075,098 (GRCm39) |
T95I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r174 |
A |
G |
7: 23,453,768 (GRCm39) |
I145V |
probably benign |
Het |
| Vps26a |
T |
C |
10: 62,304,124 (GRCm39) |
M116V |
probably damaging |
Het |
|
| Other mutations in Bean1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02016:Bean1
|
APN |
8 |
104,937,550 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0135:Bean1
|
UTSW |
8 |
104,943,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0490:Bean1
|
UTSW |
8 |
104,941,660 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1319:Bean1
|
UTSW |
8 |
104,943,856 (GRCm39) |
missense |
probably benign |
|
|
R1920:Bean1
|
UTSW |
8 |
104,937,742 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2513:Bean1
|
UTSW |
8 |
104,908,643 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3980:Bean1
|
UTSW |
8 |
104,937,730 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4209:Bean1
|
UTSW |
8 |
104,940,566 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R4369:Bean1
|
UTSW |
8 |
104,943,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4542:Bean1
|
UTSW |
8 |
104,937,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Bean1
|
UTSW |
8 |
104,937,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Bean1
|
UTSW |
8 |
104,943,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5221:Bean1
|
UTSW |
8 |
104,941,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6288:Bean1
|
UTSW |
8 |
104,937,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6588:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R6615:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R6994:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R7359:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R7451:Bean1
|
UTSW |
8 |
104,940,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7454:Bean1
|
UTSW |
8 |
104,937,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R7537:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R7826:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R8034:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R8418:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R8789:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R8885:Bean1
|
UTSW |
8 |
104,908,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8888:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R8892:Bean1
|
UTSW |
8 |
104,943,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R8992:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R9015:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R9113:Bean1
|
UTSW |
8 |
104,940,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9122:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R9135:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R9151:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R9255:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R9340:Bean1
|
UTSW |
8 |
104,908,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9363:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R9417:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R9537:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R9566:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
R9731:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
RF054:Bean1
|
UTSW |
8 |
104,908,664 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGATAGATGGCTACTGTGC -3'
(R):5'- AGCTGGTGTCTGTAGTCCAC -3'
Sequencing Primer
(F):5'- GCTACTGTGCGGGAAGTC -3'
(R):5'- GGCAGCATCTCCCAAGTCATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation