Incidental Mutation 'R4372:Bend7'
| ID |
326015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bend7
|
| Ensembl Gene |
ENSMUSG00000048186 |
| Gene Name |
BEN domain containing 7 |
| Synonyms |
E130319B15Rik, 1110017O21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4372 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
4722642-4806953 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4754421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 175
(I175F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056914]
[ENSMUST00000115022]
[ENSMUST00000184139]
|
| AlphaFold |
Q8BSV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056914
AA Change: I175F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052458
Gene: ENSMUSG00000048186
AA Change: I175F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
220 |
N/A |
INTRINSIC |
|
BEN
|
311 |
395 |
5.12e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115022
AA Change: I175F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110674
Gene: ENSMUSG00000048186
AA Change: I175F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
220 |
N/A |
INTRINSIC |
|
BEN
|
311 |
395 |
5.12e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138322
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184139
AA Change: I175F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139220
Gene: ENSMUSG00000048186
AA Change: I175F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
220 |
N/A |
INTRINSIC |
|
BEN
|
311 |
395 |
5.12e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
T |
C |
11: 106,919,293 (GRCm39) |
Y213H |
probably damaging |
Het |
| Alg5 |
T |
C |
3: 54,646,376 (GRCm39) |
|
probably null |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,879 (GRCm39) |
R715H |
probably damaging |
Het |
| Ipp |
T |
A |
4: 116,372,560 (GRCm39) |
D196E |
possibly damaging |
Het |
| Kcna5 |
A |
G |
6: 126,510,320 (GRCm39) |
*603Q |
probably null |
Het |
| Kdm3b |
A |
G |
18: 34,960,497 (GRCm39) |
T1161A |
probably benign |
Het |
| Kif20a |
A |
T |
18: 34,762,531 (GRCm39) |
Q468L |
probably damaging |
Het |
| Map7d2 |
A |
G |
X: 158,273,680 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,743,809 (GRCm39) |
E4015G |
probably benign |
Het |
| Mri1 |
A |
G |
8: 84,980,554 (GRCm39) |
V296A |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,007,386 (GRCm39) |
S516P |
probably damaging |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,366 (GRCm39) |
S481P |
possibly damaging |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Pklr |
C |
T |
3: 89,052,830 (GRCm39) |
R528* |
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Samsn1 |
G |
A |
16: 75,656,344 (GRCm39) |
T368I |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,866,767 (GRCm39) |
E241G |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,964,599 (GRCm39) |
G729R |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,656 (GRCm39) |
V721A |
probably damaging |
Het |
| Wdr17 |
T |
A |
8: 55,092,930 (GRCm39) |
Y1076F |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,845,833 (GRCm39) |
|
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,697 (GRCm39) |
S689G |
probably benign |
Het |
|
| Other mutations in Bend7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02541:Bend7
|
APN |
2 |
4,768,116 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0743:Bend7
|
UTSW |
2 |
4,749,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0884:Bend7
|
UTSW |
2 |
4,749,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Bend7
|
UTSW |
2 |
4,749,239 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1544:Bend7
|
UTSW |
2 |
4,768,122 (GRCm39) |
splice site |
probably benign |
|
|
R2344:Bend7
|
UTSW |
2 |
4,793,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Bend7
|
UTSW |
2 |
4,749,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5226:Bend7
|
UTSW |
2 |
4,757,789 (GRCm39) |
nonsense |
probably null |
|
|
R5291:Bend7
|
UTSW |
2 |
4,768,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Bend7
|
UTSW |
2 |
4,768,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Bend7
|
UTSW |
2 |
4,768,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Bend7
|
UTSW |
2 |
4,768,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Bend7
|
UTSW |
2 |
4,768,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5816:Bend7
|
UTSW |
2 |
4,757,710 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5816:Bend7
|
UTSW |
2 |
4,749,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Bend7
|
UTSW |
2 |
4,749,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Bend7
|
UTSW |
2 |
4,768,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Bend7
|
UTSW |
2 |
4,793,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7288:Bend7
|
UTSW |
2 |
4,757,641 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7524:Bend7
|
UTSW |
2 |
4,804,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7797:Bend7
|
UTSW |
2 |
4,754,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8022:Bend7
|
UTSW |
2 |
4,757,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8141:Bend7
|
UTSW |
2 |
4,757,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8156:Bend7
|
UTSW |
2 |
4,757,665 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8710:Bend7
|
UTSW |
2 |
4,767,925 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8995:Bend7
|
UTSW |
2 |
4,749,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Bend7
|
UTSW |
2 |
4,757,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9460:Bend7
|
UTSW |
2 |
4,749,302 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACACCCCACATTTAGGTTGTG -3'
(R):5'- TCACAGGTTGCTGAAAGAGTAG -3'
Sequencing Primer
(F):5'- GGTACGTTTTCTTCTGACACAG -3'
(R):5'- AATGGATACTTGAAAAGGCATAGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation