Incidental Mutation 'R6592:Btbd17'
| ID |
524656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd17
|
| Ensembl Gene |
ENSMUSG00000000202 |
| Gene Name |
BTB domain containing 17 |
| Synonyms |
1500005I02Rik, Tango10a |
| MMRRC Submission |
044716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6592 (G1)
|
| Quality Score |
122.008 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
114682043-114686771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114682302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 470
(Y470C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000206]
[ENSMUST00000084368]
[ENSMUST00000138804]
|
| AlphaFold |
Q9DB72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000206
AA Change: Y470C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000206
Gene: ENSMUSG00000000202
AA Change: Y470C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
BTB
|
63 |
162 |
2.01e-11 |
SMART |
|
BACK
|
169 |
269 |
8.58e-19 |
SMART |
|
Blast:BACK
|
425 |
460 |
1e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084368
|
| SMART Domains |
Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
9 |
354 |
4.53e-150 |
SMART |
|
coiled coil region
|
361 |
388 |
N/A |
INTRINSIC |
|
coiled coil region
|
431 |
449 |
N/A |
INTRINSIC |
|
coiled coil region
|
506 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
807 |
815 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137965
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138340
|
| SMART Domains |
Protein: ENSMUSP00000122743
Gene: ENSMUSG00000010021
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138804
|
| SMART Domains |
Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
9 |
312 |
2.99e-118 |
SMART |
|
coiled coil region
|
319 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
389 |
407 |
N/A |
INTRINSIC |
|
coiled coil region
|
464 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
692 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156192
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141481
|
| Meta Mutation Damage Score |
0.8472 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
94% (31/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,579 (GRCm39) |
V340A |
possibly damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Efcab5 |
G |
T |
11: 77,004,436 (GRCm39) |
Q1097K |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,813,482 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,389,015 (GRCm39) |
Q572R |
probably benign |
Het |
| Gm17430 |
C |
T |
18: 9,726,514 (GRCm39) |
V53I |
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,437,961 (GRCm39) |
D732G |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,857,438 (GRCm39) |
|
probably null |
Het |
| Htt |
C |
T |
5: 35,034,388 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Lgmn |
C |
T |
12: 102,370,529 (GRCm39) |
V134I |
probably damaging |
Het |
| Lhfpl7 |
A |
G |
5: 113,382,329 (GRCm39) |
Y34C |
probably damaging |
Het |
| Lysmd1 |
A |
G |
3: 95,045,197 (GRCm39) |
S148G |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,002,947 (GRCm39) |
D1054G |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,718,983 (GRCm39) |
T640A |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,584,495 (GRCm39) |
E94G |
probably null |
Het |
| Or4a67 |
G |
A |
2: 88,598,471 (GRCm39) |
H63Y |
probably damaging |
Het |
| Or5v1 |
T |
A |
17: 37,809,988 (GRCm39) |
W149R |
probably damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,496 (GRCm39) |
V367A |
possibly damaging |
Het |
| Ppp1r1a |
A |
C |
15: 103,439,799 (GRCm39) |
D164E |
probably damaging |
Het |
| Proca1 |
G |
T |
11: 78,095,779 (GRCm39) |
S137I |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,844,634 (GRCm39) |
F459L |
possibly damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,437,626 (GRCm39) |
|
probably null |
Het |
| Slc51a |
T |
C |
16: 32,294,621 (GRCm39) |
D321G |
probably damaging |
Het |
| Tchhl1 |
T |
A |
3: 93,378,116 (GRCm39) |
D273E |
probably damaging |
Het |
| Tlk1 |
G |
A |
2: 70,544,497 (GRCm39) |
R713C |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,287,656 (GRCm39) |
I465T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,814,756 (GRCm39) |
I5M |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Btbd17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01620:Btbd17
|
APN |
11 |
114,686,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1713:Btbd17
|
UTSW |
11 |
114,686,650 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2072:Btbd17
|
UTSW |
11 |
114,682,778 (GRCm39) |
splice site |
probably null |
|
|
R2074:Btbd17
|
UTSW |
11 |
114,682,778 (GRCm39) |
splice site |
probably null |
|
|
R2075:Btbd17
|
UTSW |
11 |
114,682,778 (GRCm39) |
splice site |
probably null |
|
|
R4461:Btbd17
|
UTSW |
11 |
114,684,815 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4664:Btbd17
|
UTSW |
11 |
114,684,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Btbd17
|
UTSW |
11 |
114,684,683 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4698:Btbd17
|
UTSW |
11 |
114,682,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Btbd17
|
UTSW |
11 |
114,684,917 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5250:Btbd17
|
UTSW |
11 |
114,682,234 (GRCm39) |
unclassified |
probably benign |
|
|
R6572:Btbd17
|
UTSW |
11 |
114,683,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Btbd17
|
UTSW |
11 |
114,682,641 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7215:Btbd17
|
UTSW |
11 |
114,682,291 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7986:Btbd17
|
UTSW |
11 |
114,683,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Btbd17
|
UTSW |
11 |
114,684,910 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9379:Btbd17
|
UTSW |
11 |
114,682,749 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCCTTCAAATTAGCTGG -3'
(R):5'- CGTGAGCTTCCAGAAGACAGTG -3'
Sequencing Primer
(F):5'- CTTCAAATTAGCTGGAGAAGGCACTC -3'
(R):5'- CTTCCAGAAGACAGTGCTGGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation