Incidental Mutation 'R3441:Btnl6'
ID |
267398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl6
|
Ensembl Gene |
ENSMUSG00000092618 |
Gene Name |
butyrophilin-like 6 |
Synonyms |
Gm6519, NG13 |
MMRRC Submission |
040659-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R3441 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34726778-34736326 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34727292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 413
(K413E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075483]
|
AlphaFold |
A2CG22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075483
AA Change: K413E
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000074927 Gene: ENSMUSG00000092618 AA Change: K413E
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
|
Meta Mutation Damage Score |
0.2802 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (34/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,170,759 (GRCm39) |
|
probably benign |
Het |
Ap5b1 |
A |
G |
19: 5,620,011 (GRCm39) |
H477R |
probably benign |
Het |
Asz1 |
A |
C |
6: 18,108,405 (GRCm39) |
S68A |
probably benign |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Cav3 |
G |
A |
6: 112,449,402 (GRCm39) |
C140Y |
possibly damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cfap91 |
T |
C |
16: 38,154,168 (GRCm39) |
M126V |
probably benign |
Het |
Clrn3 |
A |
C |
7: 135,115,854 (GRCm39) |
Y165* |
probably null |
Het |
Cp |
A |
T |
3: 20,029,121 (GRCm39) |
M533L |
probably benign |
Het |
Cyba |
C |
T |
8: 123,151,803 (GRCm39) |
W103* |
probably null |
Het |
Epha4 |
G |
T |
1: 77,403,333 (GRCm39) |
N95K |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,817,071 (GRCm39) |
N4268S |
probably benign |
Het |
Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
Hyal6 |
C |
T |
6: 24,734,592 (GRCm39) |
A175V |
probably benign |
Het |
Kif1a |
C |
T |
1: 92,964,575 (GRCm39) |
D1334N |
possibly damaging |
Het |
Krtap24-1 |
T |
C |
16: 88,408,713 (GRCm39) |
T138A |
probably damaging |
Het |
Mrc2 |
A |
T |
11: 105,238,542 (GRCm39) |
T1230S |
possibly damaging |
Het |
Mx1 |
T |
A |
16: 97,257,431 (GRCm39) |
I109F |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,540,789 (GRCm39) |
F1947S |
probably benign |
Het |
Or12e1 |
A |
G |
2: 87,022,162 (GRCm39) |
I44V |
probably benign |
Het |
Or6k2 |
A |
T |
1: 173,986,746 (GRCm39) |
M136L |
probably benign |
Het |
Plxnc1 |
G |
A |
10: 94,706,872 (GRCm39) |
T555I |
probably benign |
Het |
Rab21 |
CCCGCCGCCGCCGCCGCC |
CCCGCCGCCGCCGCC |
10: 115,151,214 (GRCm39) |
|
probably benign |
Het |
Rag2 |
T |
A |
2: 101,460,645 (GRCm39) |
F318L |
probably damaging |
Het |
Scgb2b24 |
G |
T |
7: 33,438,025 (GRCm39) |
F27L |
probably damaging |
Het |
Tchh |
A |
T |
3: 93,352,414 (GRCm39) |
D618V |
unknown |
Het |
Teddm1b |
A |
G |
1: 153,751,007 (GRCm39) |
E272G |
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,202,723 (GRCm39) |
M88L |
probably benign |
Het |
Tfpi2 |
A |
T |
6: 3,965,504 (GRCm39) |
Y103N |
probably benign |
Het |
Tmem98 |
A |
G |
11: 80,705,125 (GRCm39) |
N71S |
probably damaging |
Het |
Vmn1r181 |
A |
G |
7: 23,684,308 (GRCm39) |
I258V |
probably benign |
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 |
R3809:Btnl6
|
UTSW |
17 |
34,727,202 (GRCm39) |
missense |
probably benign |
0.00 |
R3936:Btnl6
|
UTSW |
17 |
34,736,316 (GRCm39) |
missense |
probably benign |
|
R4462:Btnl6
|
UTSW |
17 |
34,727,031 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CCCAGAGAAGGAAGCCTTAG -3'
(R):5'- CTTGCCATCTCCCAGGATAG -3'
Sequencing Primer
(F):5'- CATGTCACTCATGTTATAGAAGGAG -3'
(R):5'- ATCTCCCAGGATAGGCTGACTG -3'
|
Posted On |
2015-02-18 |