Incidental Mutation 'R8156:Bend7'
| ID |
633301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bend7
|
| Ensembl Gene |
ENSMUSG00000048186 |
| Gene Name |
BEN domain containing 7 |
| Synonyms |
E130319B15Rik, 1110017O21Rik |
| MMRRC Submission |
067582-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8156 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
4722642-4806953 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4757665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 236
(P236S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056914]
[ENSMUST00000115022]
[ENSMUST00000184139]
|
| AlphaFold |
Q8BSV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056914
AA Change: P236S
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000052458
Gene: ENSMUSG00000048186
AA Change: P236S
| 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: P236S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000110674
Gene: ENSMUSG00000048186
AA Change: P236S
| 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: ENSMUST00000184139
AA Change: P236S
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139220
Gene: ENSMUSG00000048186
AA Change: P236S
| 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: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
T |
C |
11: 120,489,074 (GRCm39) |
R31G |
probably benign |
Het |
| Arfgef2 |
GTGTGCAGAAACT |
GT |
2: 166,676,383 (GRCm39) |
92 |
probably null |
Het |
| Arhgap31 |
G |
T |
16: 38,445,991 (GRCm39) |
A118E |
probably damaging |
Het |
| Asb5 |
T |
A |
8: 55,003,541 (GRCm39) |
I21K |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,546,760 (GRCm39) |
I515V |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,566,824 (GRCm39) |
T351A |
probably benign |
Het |
| Cd1d2 |
T |
A |
3: 86,894,569 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
A |
17: 15,981,666 (GRCm39) |
D1368E |
probably benign |
Het |
| Chrnb3 |
A |
G |
8: 27,883,682 (GRCm39) |
I140V |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,817,825 (GRCm39) |
D65G |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,432,625 (GRCm39) |
T843A |
possibly damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,986,317 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
G |
9: 86,376,510 (GRCm39) |
D248G |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,723,388 (GRCm39) |
C197* |
probably null |
Het |
| Flg2 |
T |
C |
3: 93,127,390 (GRCm39) |
S2101P |
unknown |
Het |
| Foxg1 |
A |
G |
12: 49,431,429 (GRCm39) |
H54R |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr35 |
A |
G |
1: 92,910,437 (GRCm39) |
T50A |
probably damaging |
Het |
| Gsta3 |
A |
T |
1: 21,330,322 (GRCm39) |
Y108F |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,886,138 (GRCm39) |
A811E |
probably damaging |
Het |
| Hephl1 |
A |
T |
9: 14,972,210 (GRCm39) |
V910E |
possibly damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,780,280 (GRCm39) |
Y384F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,733,686 (GRCm39) |
I2210M |
unknown |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,992,196 (GRCm39) |
|
probably null |
Het |
| Lsm4 |
G |
A |
8: 71,131,018 (GRCm39) |
G112S |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,464,554 (GRCm39) |
|
probably null |
Het |
| Ndor1 |
T |
C |
2: 25,138,746 (GRCm39) |
R396G |
probably benign |
Het |
| Or10ag56 |
A |
C |
2: 87,139,318 (GRCm39) |
I82L |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Prdm2 |
A |
G |
4: 142,861,338 (GRCm39) |
S651P |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,909,172 (GRCm39) |
M91V |
probably benign |
Het |
| Pskh1 |
G |
A |
8: 106,640,226 (GRCm39) |
R302H |
probably benign |
Het |
| Rab11fip4 |
A |
G |
11: 79,577,415 (GRCm39) |
T390A |
probably benign |
Het |
| Snx10 |
T |
C |
6: 51,538,999 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
T |
C |
10: 23,847,393 (GRCm39) |
C264R |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,737,138 (GRCm39) |
C1438R |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,173,486 (GRCm39) |
T3A |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,609,975 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
A |
G |
9: 114,342,192 (GRCm39) |
S697P |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,269,057 (GRCm39) |
D258G |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,183 (GRCm39) |
Y9H |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,099,115 (GRCm39) |
H373L |
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 |
4,757,710 (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 |
|
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'- GAGTCAGCGTGTATATCGCAG -3'
(R):5'- TTCTATCAACCAGGTTGGCAGC -3'
Sequencing Primer
(F):5'- GCCAGGGTAGATTTTCCTCAGAC -3'
(R):5'- CAGGTTGGCAGCCAGAACATATC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation