Incidental Mutation 'R2344:Bend7'
| ID |
245916 |
| 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 # |
R2344 (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 4793345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 383
(D383V)
|
| 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: D383V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052458
Gene: ENSMUSG00000048186
AA Change: D383V
| 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: D383V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110674
Gene: ENSMUSG00000048186
AA Change: D383V
| 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: D383V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139220
Gene: ENSMUSG00000048186
AA Change: D383V
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
A |
G |
13: 14,328,075 (GRCm39) |
Q247R |
probably benign |
Het |
| Calm4 |
A |
G |
13: 3,888,298 (GRCm39) |
K135E |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,152,503 (GRCm39) |
D2412G |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,736 (GRCm39) |
T1057A |
unknown |
Het |
| Dpf3 |
T |
G |
12: 83,397,594 (GRCm39) |
D90A |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,280,490 (GRCm39) |
M348K |
probably benign |
Het |
| Elmo3 |
T |
C |
8: 106,035,793 (GRCm39) |
Y558H |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,472,746 (GRCm39) |
V79I |
possibly damaging |
Het |
| Ercc5 |
T |
C |
1: 44,206,329 (GRCm39) |
M414T |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,094,318 (GRCm39) |
I389M |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,820,257 (GRCm39) |
F5330S |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,481,099 (GRCm39) |
I533V |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,546,417 (GRCm39) |
L167P |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,391,748 (GRCm39) |
F505I |
probably damaging |
Het |
| Il6 |
A |
T |
5: 30,219,854 (GRCm39) |
M77L |
probably benign |
Het |
| Or6c76b |
A |
T |
10: 129,692,410 (GRCm39) |
T8S |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,909,115 (GRCm39) |
I194V |
probably damaging |
Het |
| Rbpjl |
G |
T |
2: 164,256,312 (GRCm39) |
V433L |
probably damaging |
Het |
| Rps10 |
C |
G |
17: 27,853,081 (GRCm39) |
R96P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,415,575 (GRCm39) |
T387A |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,414 (GRCm39) |
T298M |
probably benign |
Het |
| Usp49 |
T |
C |
17: 47,983,828 (GRCm39) |
F278L |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,740,352 (GRCm39) |
C648R |
probably damaging |
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 |
|
|
R4372:Bend7
|
UTSW |
2 |
4,754,421 (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'- AAGACAGGCTTGTTTTCTCCTTG -3'
(R):5'- GTGAAGCACATTAGACCACAGATG -3'
Sequencing Primer
(F):5'- AGGCTTGTTTTCTCCTTGGGACTATC -3'
(R):5'- GCTATTAGAAGCAAATGGCCTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation