Incidental Mutation 'IGL02129:Btnl9'
ID |
280986 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Btnl9
|
Ensembl Gene |
ENSMUSG00000040283 |
Gene Name |
butyrophilin-like 9 |
Synonyms |
D330012D11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL02129
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
49059152-49077916 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 49060100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 464
(D464E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046229
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046522]
[ENSMUST00000066531]
|
AlphaFold |
Q8BJE2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046522
AA Change: D464E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000046229 Gene: ENSMUSG00000040283 AA Change: D464E
Domain | Start | End | E-Value | Type |
IG
|
44 |
151 |
1.24e-8 |
SMART |
Pfam:Ig_2
|
155 |
243 |
9.2e-3 |
PFAM |
Pfam:C2-set_2
|
156 |
238 |
1.7e-9 |
PFAM |
transmembrane domain
|
259 |
281 |
N/A |
INTRINSIC |
PRY
|
324 |
377 |
8.68e-14 |
SMART |
SPRY
|
378 |
503 |
1.3e-18 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066531
AA Change: D549E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000066598 Gene: ENSMUSG00000040283 AA Change: D549E
Domain | Start | End | E-Value | Type |
IG
|
44 |
151 |
1.24e-8 |
SMART |
Pfam:Ig_3
|
155 |
231 |
1e-4 |
PFAM |
Pfam:C2-set_2
|
156 |
238 |
2.2e-6 |
PFAM |
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
PRY
|
419 |
462 |
3.61e-2 |
SMART |
SPRY
|
463 |
588 |
1.3e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131363
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp1a3 |
T |
A |
7: 24,696,711 (GRCm39) |
H293L |
probably damaging |
Het |
AU040320 |
A |
G |
4: 126,717,485 (GRCm39) |
Y354C |
probably damaging |
Het |
Bag4 |
T |
C |
8: 26,258,113 (GRCm39) |
T405A |
probably damaging |
Het |
Best1 |
T |
A |
19: 9,970,285 (GRCm39) |
Q109L |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,979,193 (GRCm39) |
T707I |
probably benign |
Het |
Bora |
G |
A |
14: 99,294,257 (GRCm39) |
|
probably null |
Het |
Cebpe |
T |
A |
14: 54,949,070 (GRCm39) |
R116W |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,613,539 (GRCm39) |
|
probably benign |
Het |
Copb2 |
T |
C |
9: 98,467,976 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,470,837 (GRCm39) |
E3G |
unknown |
Het |
Fam117b |
A |
G |
1: 60,020,582 (GRCm39) |
H484R |
probably benign |
Het |
Fgb |
T |
A |
3: 82,950,725 (GRCm39) |
K343M |
probably benign |
Het |
Fkbpl |
C |
T |
17: 34,864,952 (GRCm39) |
T240M |
probably damaging |
Het |
Gemin6 |
T |
C |
17: 80,535,355 (GRCm39) |
L105P |
probably damaging |
Het |
Heatr3 |
T |
C |
8: 88,884,899 (GRCm39) |
|
probably benign |
Het |
Itch |
C |
T |
2: 155,059,908 (GRCm39) |
|
probably benign |
Het |
Kank3 |
C |
T |
17: 34,036,465 (GRCm39) |
P111L |
probably benign |
Het |
Mthfsl |
T |
A |
9: 88,597,589 (GRCm39) |
I111F |
probably damaging |
Het |
Mtor |
A |
T |
4: 148,634,302 (GRCm39) |
M2382L |
possibly damaging |
Het |
Myh2 |
A |
G |
11: 67,076,084 (GRCm39) |
D757G |
probably benign |
Het |
Naa35 |
A |
G |
13: 59,757,339 (GRCm39) |
D238G |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,955,432 (GRCm39) |
Y373* |
probably null |
Het |
Or5an10 |
T |
A |
19: 12,275,822 (GRCm39) |
I225F |
probably damaging |
Het |
Pigm |
G |
A |
1: 172,205,434 (GRCm39) |
W390* |
probably null |
Het |
Plxnb2 |
A |
G |
15: 89,044,613 (GRCm39) |
V1211A |
probably benign |
Het |
Sh3yl1 |
T |
A |
12: 30,992,876 (GRCm39) |
|
probably benign |
Het |
Spg11 |
T |
A |
2: 121,926,167 (GRCm39) |
Q709H |
probably damaging |
Het |
Spr-ps1 |
A |
G |
6: 85,132,804 (GRCm39) |
|
noncoding transcript |
Het |
Tc2n |
T |
C |
12: 101,656,048 (GRCm39) |
N208D |
probably damaging |
Het |
Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
Ttll1 |
G |
A |
15: 83,368,450 (GRCm39) |
P403S |
probably benign |
Het |
Usp20 |
T |
C |
2: 30,894,462 (GRCm39) |
V126A |
probably benign |
Het |
Zfp109 |
T |
C |
7: 23,936,054 (GRCm39) |
T2A |
possibly damaging |
Het |
|
Other mutations in Btnl9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01155:Btnl9
|
APN |
11 |
49,066,518 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01923:Btnl9
|
APN |
11 |
49,071,409 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02248:Btnl9
|
APN |
11 |
49,071,625 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02795:Btnl9
|
APN |
11 |
49,065,694 (GRCm39) |
splice site |
probably benign |
|
IGL02889:Btnl9
|
APN |
11 |
49,069,604 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02796:Btnl9
|
UTSW |
11 |
49,060,008 (GRCm39) |
missense |
probably damaging |
0.99 |
R0084:Btnl9
|
UTSW |
11 |
49,069,606 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0362:Btnl9
|
UTSW |
11 |
49,060,443 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0417:Btnl9
|
UTSW |
11 |
49,066,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R1199:Btnl9
|
UTSW |
11 |
49,071,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R1260:Btnl9
|
UTSW |
11 |
49,060,371 (GRCm39) |
missense |
probably damaging |
0.98 |
R1802:Btnl9
|
UTSW |
11 |
49,066,617 (GRCm39) |
missense |
probably benign |
0.06 |
R2000:Btnl9
|
UTSW |
11 |
49,059,948 (GRCm39) |
missense |
probably benign |
0.04 |
R2068:Btnl9
|
UTSW |
11 |
49,060,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R2130:Btnl9
|
UTSW |
11 |
49,071,523 (GRCm39) |
missense |
probably damaging |
0.99 |
R2142:Btnl9
|
UTSW |
11 |
49,061,453 (GRCm39) |
splice site |
probably null |
|
R2229:Btnl9
|
UTSW |
11 |
49,059,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R2255:Btnl9
|
UTSW |
11 |
49,060,143 (GRCm39) |
nonsense |
probably null |
|
R2386:Btnl9
|
UTSW |
11 |
49,069,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R3177:Btnl9
|
UTSW |
11 |
49,060,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R3277:Btnl9
|
UTSW |
11 |
49,060,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R3835:Btnl9
|
UTSW |
11 |
49,071,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Btnl9
|
UTSW |
11 |
49,060,434 (GRCm39) |
missense |
probably benign |
0.20 |
R5352:Btnl9
|
UTSW |
11 |
49,069,667 (GRCm39) |
missense |
probably benign |
0.01 |
R5433:Btnl9
|
UTSW |
11 |
49,066,830 (GRCm39) |
intron |
probably benign |
|
R5490:Btnl9
|
UTSW |
11 |
49,060,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Btnl9
|
UTSW |
11 |
49,069,712 (GRCm39) |
missense |
probably benign |
0.00 |
R6008:Btnl9
|
UTSW |
11 |
49,073,792 (GRCm39) |
critical splice donor site |
probably null |
|
R6770:Btnl9
|
UTSW |
11 |
49,066,392 (GRCm39) |
splice site |
probably null |
|
R7126:Btnl9
|
UTSW |
11 |
49,060,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R7276:Btnl9
|
UTSW |
11 |
49,066,617 (GRCm39) |
missense |
probably benign |
0.06 |
R7787:Btnl9
|
UTSW |
11 |
49,066,866 (GRCm39) |
missense |
unknown |
|
R7923:Btnl9
|
UTSW |
11 |
49,071,565 (GRCm39) |
missense |
probably damaging |
0.97 |
R8050:Btnl9
|
UTSW |
11 |
49,066,442 (GRCm39) |
missense |
probably benign |
0.25 |
R8558:Btnl9
|
UTSW |
11 |
49,071,619 (GRCm39) |
missense |
probably benign |
0.00 |
R8788:Btnl9
|
UTSW |
11 |
49,066,614 (GRCm39) |
missense |
probably benign |
0.03 |
R8945:Btnl9
|
UTSW |
11 |
49,065,661 (GRCm39) |
missense |
probably benign |
0.38 |
R9105:Btnl9
|
UTSW |
11 |
49,066,461 (GRCm39) |
missense |
probably benign |
0.29 |
R9656:Btnl9
|
UTSW |
11 |
49,060,008 (GRCm39) |
missense |
probably damaging |
0.99 |
X0026:Btnl9
|
UTSW |
11 |
49,060,068 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1192:Btnl9
|
UTSW |
11 |
49,066,805 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-04-16 |