Incidental Mutation 'R5816:Bend7'
| ID |
449029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bend7
|
| Ensembl Gene |
ENSMUSG00000048186 |
| Gene Name |
BEN domain containing 7 |
| Synonyms |
E130319B15Rik, 1110017O21Rik |
| MMRRC Submission |
043214-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5816 (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 G
at 4757710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 251
(R251G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056914]
[ENSMUST00000115022]
[ENSMUST00000184139]
|
| AlphaFold |
Q8BSV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056914
AA Change: R251G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000052458
Gene: ENSMUSG00000048186
AA Change: R251G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
220 |
N/A |
INTRINSIC |
|
BEN
|
311 |
395 |
5.12e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115022
AA Change: R251G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110674
Gene: ENSMUSG00000048186
AA Change: R251G
| 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 benign
Transcript: ENSMUST00000184139
AA Change: R251G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139220
Gene: ENSMUSG00000048186
AA Change: R251G
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,234,563 (GRCm39) |
D1501G |
probably damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,271,329 (GRCm39) |
I352F |
probably damaging |
Het |
| Cep72 |
A |
T |
13: 74,197,150 (GRCm39) |
S402T |
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,801,120 (GRCm39) |
V181A |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,799,890 (GRCm39) |
N162S |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,588,336 (GRCm39) |
N296S |
probably benign |
Het |
| Cyria |
A |
G |
12: 12,408,166 (GRCm39) |
D64G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,218,315 (GRCm39) |
A1585V |
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,146,892 (GRCm39) |
P339L |
probably benign |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,401 (GRCm39) |
I568T |
probably benign |
Het |
| Eif5a |
C |
T |
11: 69,808,499 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Foxj2 |
G |
A |
6: 122,810,695 (GRCm39) |
S225N |
probably benign |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
T |
C |
17: 73,881,877 (GRCm39) |
Y74C |
probably damaging |
Het |
| Glrb |
T |
A |
3: 80,769,286 (GRCm39) |
N147I |
probably damaging |
Het |
| Grb14 |
A |
T |
2: 64,747,628 (GRCm39) |
M377K |
probably damaging |
Het |
| Kcng1 |
C |
T |
2: 168,110,643 (GRCm39) |
E174K |
possibly damaging |
Het |
| Kdm3b |
A |
C |
18: 34,961,522 (GRCm39) |
E1433A |
probably damaging |
Het |
| Matn3 |
G |
A |
12: 9,020,571 (GRCm39) |
R481H |
probably damaging |
Het |
| Mcm6 |
A |
G |
1: 128,276,192 (GRCm39) |
V331A |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,701,956 (GRCm39) |
Y415C |
probably damaging |
Het |
| Med11 |
T |
C |
11: 70,343,111 (GRCm39) |
S65P |
probably damaging |
Het |
| Metrnl |
T |
A |
11: 121,598,938 (GRCm39) |
S166T |
probably benign |
Het |
| Mllt6 |
A |
G |
11: 97,563,400 (GRCm39) |
K328E |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,586,752 (GRCm39) |
K353R |
probably benign |
Het |
| Or52ab4 |
A |
G |
7: 102,988,202 (GRCm39) |
T314A |
probably benign |
Het |
| Or8g52 |
T |
A |
9: 39,630,526 (GRCm39) |
M1K |
probably null |
Het |
| Pfkl |
A |
T |
10: 77,837,856 (GRCm39) |
N46K |
possibly damaging |
Het |
| Phactr3 |
A |
G |
2: 177,944,586 (GRCm39) |
E428G |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,128,902 (GRCm39) |
S3934G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,429,718 (GRCm39) |
D3312G |
probably benign |
Het |
| Prmt8 |
G |
A |
6: 127,674,701 (GRCm39) |
T309I |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,413,162 (GRCm39) |
V742E |
possibly damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,157 (GRCm39) |
H56R |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,227,988 (GRCm39) |
S406T |
unknown |
Het |
| Slc26a4 |
G |
T |
12: 31,578,684 (GRCm39) |
H656Q |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 110,026,712 (GRCm39) |
V724A |
possibly damaging |
Het |
| Thbs2 |
C |
T |
17: 14,904,333 (GRCm39) |
|
probably null |
Het |
| Zbtb6 |
A |
T |
2: 37,319,227 (GRCm39) |
F234I |
probably benign |
Het |
| Zfp536 |
C |
T |
7: 37,180,053 (GRCm39) |
D851N |
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 |
|
|
R2344:Bend7
|
UTSW |
2 |
4,793,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
4,749,143 (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'- CTCAGACACAAGTGCCTGTAC -3'
(R):5'- CTCTTCTTGTTTGGGGCAGAAC -3'
Sequencing Primer
(F):5'- GACACAAGTGCCTGTACCATATTTG -3'
(R):5'- TGGGGCAGAACTAGTTAGGTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation