Incidental Mutation 'R2994:Btnl6'
ID |
257161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl6
|
Ensembl Gene |
ENSMUSG00000092618 |
Gene Name |
butyrophilin-like 6 |
Synonyms |
Gm6519, NG13 |
MMRRC Submission |
040529-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R2994 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
34726778-34736326 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34734498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Isoleucine
at position 88
(R88I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075483]
|
AlphaFold |
A2CG22 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075483
AA Change: R88I
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000074927 Gene: ENSMUSG00000092618 AA Change: R88I
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: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,603,538 (GRCm39) |
S577P |
probably damaging |
Het |
Agrn |
T |
C |
4: 156,251,785 (GRCm39) |
T1826A |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Cfap52 |
T |
A |
11: 67,830,617 (GRCm39) |
Y281F |
probably benign |
Het |
CK137956 |
T |
C |
4: 127,845,300 (GRCm39) |
T148A |
probably benign |
Het |
Fpr3 |
C |
T |
17: 18,191,130 (GRCm39) |
Q134* |
probably null |
Het |
Gbp4 |
A |
T |
5: 105,284,886 (GRCm39) |
M1K |
probably null |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Nedd4 |
A |
G |
9: 72,638,185 (GRCm39) |
D440G |
probably benign |
Het |
Nlgn1 |
C |
T |
3: 25,490,162 (GRCm39) |
D522N |
probably damaging |
Het |
Oprk1 |
T |
C |
1: 5,672,955 (GRCm39) |
V364A |
probably benign |
Het |
Or1e35 |
T |
C |
11: 73,797,541 (GRCm39) |
Y259C |
probably damaging |
Het |
Or5d18 |
A |
G |
2: 87,865,301 (GRCm39) |
Y61H |
probably damaging |
Het |
Polr1e |
T |
C |
4: 45,027,473 (GRCm39) |
|
probably null |
Het |
Psmd11 |
T |
C |
11: 80,351,493 (GRCm39) |
Y239H |
probably damaging |
Het |
Ripor2 |
A |
T |
13: 24,885,610 (GRCm39) |
D576V |
probably damaging |
Het |
Rundc3a |
C |
T |
11: 102,291,489 (GRCm39) |
T327I |
probably damaging |
Het |
Sh3rf1 |
A |
G |
8: 61,825,609 (GRCm39) |
T535A |
probably benign |
Het |
Slc13a2 |
T |
A |
11: 78,295,563 (GRCm39) |
E101V |
probably damaging |
Het |
Tg |
A |
T |
15: 66,553,802 (GRCm39) |
T406S |
probably benign |
Het |
Tjp2 |
T |
C |
19: 24,090,215 (GRCm39) |
E609G |
probably damaging |
Het |
Zfp459 |
G |
A |
13: 67,556,853 (GRCm39) |
P77S |
possibly damaging |
Het |
Zfp612 |
A |
G |
8: 110,816,049 (GRCm39) |
K380E |
probably damaging |
Het |
Zfp629 |
T |
C |
7: 127,210,228 (GRCm39) |
E527G |
probably 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 |
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 |
|
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'- ACCTTCAGTTCCAAGATGGC -3'
(R):5'- TGCACTGCTAGGTCCAAAGG -3'
Sequencing Primer
(F):5'- GTTCCAAGATGGCCTCTTCATAGAAC -3'
(R):5'- CCACAGAGGAGTTCCAGGTCTTTG -3'
|
Posted On |
2015-01-11 |