Incidental Mutation 'R4462:Btnl6'
ID |
330201 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl6
|
Ensembl Gene |
ENSMUSG00000092618 |
Gene Name |
butyrophilin-like 6 |
Synonyms |
Gm6519, NG13 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R4462 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
34726778-34736326 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34727031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 500
(S500P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075483]
|
AlphaFold |
A2CG22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075483
AA Change: S500P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074927 Gene: ENSMUSG00000092618 AA Change: S500P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
IG
|
37 |
145 |
2.06e-5 |
SMART |
SCOP:d1c5ch2
|
151 |
222 |
1e-2 |
SMART |
Blast:IG_like
|
152 |
228 |
2e-23 |
BLAST |
transmembrane domain
|
252 |
271 |
N/A |
INTRINSIC |
low complexity region
|
312 |
326 |
N/A |
INTRINSIC |
SPRY
|
384 |
509 |
1.23e-19 |
SMART |
low complexity region
|
510 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173164
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcyap1r1 |
A |
T |
6: 55,457,084 (GRCm39) |
I272F |
possibly damaging |
Het |
Adgrl3 |
C |
T |
5: 81,836,357 (GRCm39) |
A705V |
probably damaging |
Het |
Arhgef12 |
A |
T |
9: 42,893,278 (GRCm39) |
V975E |
probably damaging |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
Cdon |
T |
C |
9: 35,368,876 (GRCm39) |
V34A |
probably damaging |
Het |
Defa17 |
A |
G |
8: 22,146,553 (GRCm39) |
R60G |
probably benign |
Het |
Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
Fuca2 |
T |
C |
10: 13,378,979 (GRCm39) |
V41A |
probably damaging |
Het |
Ggt6 |
C |
A |
11: 72,328,654 (GRCm39) |
H385N |
possibly damaging |
Het |
Hgsnat |
G |
A |
8: 26,444,664 (GRCm39) |
T428I |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,891,015 (GRCm39) |
S535P |
probably damaging |
Het |
Or2y6 |
T |
A |
11: 52,104,801 (GRCm39) |
N5I |
probably damaging |
Het |
Or8b1c |
T |
A |
9: 38,384,360 (GRCm39) |
F106I |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,445,200 (GRCm39) |
F3691L |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,637,229 (GRCm39) |
D282G |
probably damaging |
Het |
Ranbp17 |
T |
C |
11: 33,167,421 (GRCm39) |
|
probably null |
Het |
Slc13a2 |
T |
C |
11: 78,295,213 (GRCm39) |
T187A |
probably benign |
Het |
Slco3a1 |
A |
C |
7: 74,204,311 (GRCm39) |
S10A |
probably benign |
Het |
Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
Trim38 |
A |
G |
13: 23,975,435 (GRCm39) |
Y458C |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,145,813 (GRCm39) |
M1537V |
possibly damaging |
Het |
|
Other mutations in Btnl6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02127:Btnl6
|
APN |
17 |
34,733,017 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02501:Btnl6
|
APN |
17 |
34,734,648 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02539:Btnl6
|
APN |
17 |
34,727,288 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02629:Btnl6
|
APN |
17 |
34,733,442 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02724:Btnl6
|
APN |
17 |
34,727,149 (GRCm39) |
nonsense |
probably null |
|
IGL03366:Btnl6
|
APN |
17 |
34,727,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R0013:Btnl6
|
UTSW |
17 |
34,734,505 (GRCm39) |
nonsense |
probably null |
|
R0025:Btnl6
|
UTSW |
17 |
34,733,273 (GRCm39) |
missense |
probably benign |
0.02 |
R0144:Btnl6
|
UTSW |
17 |
34,732,994 (GRCm39) |
missense |
probably benign |
0.29 |
R0255:Btnl6
|
UTSW |
17 |
34,727,477 (GRCm39) |
missense |
probably benign |
0.01 |
R1474:Btnl6
|
UTSW |
17 |
34,732,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Btnl6
|
UTSW |
17 |
34,733,062 (GRCm39) |
missense |
probably benign |
0.09 |
R1838:Btnl6
|
UTSW |
17 |
34,734,516 (GRCm39) |
missense |
probably damaging |
0.99 |
R2149:Btnl6
|
UTSW |
17 |
34,733,321 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2994:Btnl6
|
UTSW |
17 |
34,734,498 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3441:Btnl6
|
UTSW |
17 |
34,727,292 (GRCm39) |
missense |
probably benign |
0.06 |
R3809:Btnl6
|
UTSW |
17 |
34,727,202 (GRCm39) |
missense |
probably benign |
0.00 |
R3936:Btnl6
|
UTSW |
17 |
34,736,316 (GRCm39) |
missense |
probably benign |
|
R4604:Btnl6
|
UTSW |
17 |
34,727,435 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4618:Btnl6
|
UTSW |
17 |
34,733,120 (GRCm39) |
missense |
probably damaging |
0.98 |
R4832:Btnl6
|
UTSW |
17 |
34,732,966 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5369:Btnl6
|
UTSW |
17 |
34,726,959 (GRCm39) |
nonsense |
probably null |
|
R5422:Btnl6
|
UTSW |
17 |
34,733,081 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6046:Btnl6
|
UTSW |
17 |
34,727,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R6170:Btnl6
|
UTSW |
17 |
34,734,480 (GRCm39) |
missense |
probably damaging |
0.99 |
R6385:Btnl6
|
UTSW |
17 |
34,727,343 (GRCm39) |
missense |
probably benign |
0.01 |
R8213:Btnl6
|
UTSW |
17 |
34,727,857 (GRCm39) |
splice site |
probably null |
|
R8676:Btnl6
|
UTSW |
17 |
34,727,043 (GRCm39) |
missense |
probably benign |
0.00 |
R8895:Btnl6
|
UTSW |
17 |
34,734,391 (GRCm39) |
missense |
probably benign |
0.01 |
R9654:Btnl6
|
UTSW |
17 |
34,733,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R9665:Btnl6
|
UTSW |
17 |
34,732,635 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTTCCCCTGGGATAGAGTC -3'
(R):5'- GGCCTATATTGACTCTGGGAGG -3'
Sequencing Primer
(F):5'- GTCCACAACACAAGAGCCTGG -3'
(R):5'- GGACTTCATTATCTGTCAGGCAAGC -3'
|
Posted On |
2015-07-21 |