Incidental Mutation 'R5998:Btbd19'
ID |
480668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btbd19
|
Ensembl Gene |
ENSMUSG00000073771 |
Gene Name |
BTB domain containing 19 |
Synonyms |
9530048O09Rik |
MMRRC Submission |
044177-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R5998 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116976416-116982922 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116978196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 234
(E234V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143213]
[ENSMUST00000153257]
[ENSMUST00000183310]
|
AlphaFold |
S4R1I0 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097915
|
SMART Domains |
Protein: ENSMUSP00000095528 Gene: ENSMUSG00000073771
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123346
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125896
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143213
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153257
|
SMART Domains |
Protein: ENSMUSP00000121768 Gene: ENSMUSG00000073771
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Blast:BACK
|
33 |
84 |
5e-16 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183310
AA Change: E234V
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000138230 Gene: ENSMUSG00000073771 AA Change: E234V
Domain | Start | End | E-Value | Type |
BTB
|
29 |
124 |
1.82e-18 |
SMART |
BACK
|
129 |
233 |
4.17e-8 |
SMART |
low complexity region
|
260 |
280 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181979
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153924
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
A |
11: 9,517,708 (GRCm39) |
V4437I |
probably damaging |
Het |
Acot12 |
T |
C |
13: 91,905,653 (GRCm39) |
I71T |
possibly damaging |
Het |
Adcy10 |
A |
G |
1: 165,369,218 (GRCm39) |
I630V |
probably benign |
Het |
Adcy3 |
T |
A |
12: 4,248,348 (GRCm39) |
V470E |
probably damaging |
Het |
Adcy6 |
C |
A |
15: 98,492,235 (GRCm39) |
E1008* |
probably null |
Het |
Adgrb3 |
A |
T |
1: 25,470,582 (GRCm39) |
|
probably null |
Het |
Ahrr |
T |
A |
13: 74,361,955 (GRCm39) |
S515C |
probably damaging |
Het |
Ankrd52 |
T |
C |
10: 128,218,992 (GRCm39) |
I416T |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,866,784 (GRCm39) |
S1096P |
probably damaging |
Het |
Atp8b4 |
A |
G |
2: 126,275,787 (GRCm39) |
|
probably null |
Het |
Bcl6b |
A |
C |
11: 70,119,009 (GRCm39) |
I200M |
probably damaging |
Het |
Csmd1 |
G |
A |
8: 15,960,443 (GRCm39) |
T3324I |
probably damaging |
Het |
Cyp2a5 |
G |
A |
7: 26,536,578 (GRCm39) |
V186I |
probably benign |
Het |
Eif4a3l1 |
T |
C |
6: 136,305,622 (GRCm39) |
F28L |
probably benign |
Het |
Glb1l2 |
G |
A |
9: 26,677,299 (GRCm39) |
T533I |
possibly damaging |
Het |
Helz |
G |
T |
11: 107,576,360 (GRCm39) |
E1851* |
probably null |
Het |
Igkv15-103 |
T |
A |
6: 68,414,489 (GRCm39) |
F13Y |
unknown |
Het |
Kcnq2 |
T |
C |
2: 180,728,801 (GRCm39) |
H548R |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,316,976 (GRCm39) |
|
probably null |
Het |
Micall2 |
T |
C |
5: 139,692,666 (GRCm39) |
|
probably null |
Het |
Mill2 |
A |
G |
7: 18,573,989 (GRCm39) |
R25G |
probably benign |
Het |
Mtcl1 |
G |
A |
17: 66,675,275 (GRCm39) |
H1041Y |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,993 (GRCm39) |
T4A |
probably benign |
Het |
Or8d2b |
G |
A |
9: 38,789,165 (GRCm39) |
R231H |
probably damaging |
Het |
Pigt |
A |
G |
2: 164,349,374 (GRCm39) |
E559G |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,699,654 (GRCm39) |
V2094A |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,601,021 (GRCm39) |
L2894Q |
probably damaging |
Het |
Saxo4 |
A |
T |
19: 10,458,716 (GRCm39) |
W105R |
possibly damaging |
Het |
Speer4a2 |
T |
C |
5: 26,289,704 (GRCm39) |
D241G |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,980,926 (GRCm39) |
V256A |
possibly damaging |
Het |
Zfp516 |
T |
C |
18: 82,974,639 (GRCm39) |
L279P |
probably damaging |
Het |
Zfp780b |
T |
A |
7: 27,664,047 (GRCm39) |
K169N |
probably benign |
Het |
|
Other mutations in Btbd19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R3690:Btbd19
|
UTSW |
4 |
116,977,789 (GRCm39) |
utr 3 prime |
probably benign |
|
R3691:Btbd19
|
UTSW |
4 |
116,977,789 (GRCm39) |
utr 3 prime |
probably benign |
|
R4907:Btbd19
|
UTSW |
4 |
116,977,764 (GRCm39) |
utr 3 prime |
probably benign |
|
R5052:Btbd19
|
UTSW |
4 |
116,979,454 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5163:Btbd19
|
UTSW |
4 |
116,978,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R5396:Btbd19
|
UTSW |
4 |
116,980,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5398:Btbd19
|
UTSW |
4 |
116,980,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5399:Btbd19
|
UTSW |
4 |
116,980,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R7313:Btbd19
|
UTSW |
4 |
116,978,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R9105:Btbd19
|
UTSW |
4 |
116,977,961 (GRCm39) |
missense |
probably damaging |
0.98 |
RF020:Btbd19
|
UTSW |
4 |
116,979,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGGGCGTGACACTTCCATG -3'
(R):5'- CTGTGCTACGCAGTGACAAG -3'
Sequencing Primer
(F):5'- ATGCCTCCACAATCTGTTCAAC -3'
(R):5'- TACGCAGTGACAAGCTCTG -3'
|
Posted On |
2017-06-26 |