Incidental Mutation 'IGL02248:Btnl9'
| ID |
286263 |
| 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 # |
IGL02248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
49059152-49077916 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49071625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 66
(D66G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046522]
[ENSMUST00000066531]
[ENSMUST00000153999]
|
| AlphaFold |
Q8BJE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046522
AA Change: D66G
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: D66G
| 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 benign
Transcript: ENSMUST00000066531
AA Change: D66G
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: D66G
| 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: ENSMUST00000128462
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153999
AA Change: D66G
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120530
Gene: ENSMUSG00000040283
AA Change: D66G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
44 |
151 |
1.24e-8 |
SMART |
|
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
A |
T |
4: 153,516,568 (GRCm39) |
S258T |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,590,065 (GRCm39) |
|
probably benign |
Het |
| B4galnt4 |
T |
C |
7: 140,647,721 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,023,439 (GRCm39) |
|
probably null |
Het |
| Casp1 |
T |
A |
9: 5,299,452 (GRCm39) |
H60Q |
probably benign |
Het |
| Clec4n |
T |
G |
6: 123,207,527 (GRCm39) |
S30R |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,671,297 (GRCm39) |
L1021P |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,810,940 (GRCm39) |
N22D |
possibly damaging |
Het |
| Frrs1l |
T |
A |
4: 56,968,272 (GRCm39) |
N167Y |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,813,116 (GRCm39) |
I3145K |
possibly damaging |
Het |
| Gcc1 |
G |
T |
6: 28,418,513 (GRCm39) |
R607S |
probably damaging |
Het |
| Gm14443 |
A |
T |
2: 175,012,107 (GRCm39) |
I113K |
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,758,387 (GRCm39) |
|
probably benign |
Het |
| Igkv4-69 |
T |
A |
6: 69,261,305 (GRCm39) |
|
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,221 (GRCm39) |
C45F |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,313,152 (GRCm39) |
Y2483C |
probably damaging |
Het |
| Lrpprc |
A |
G |
17: 85,078,895 (GRCm39) |
L273S |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,670,814 (GRCm39) |
L476Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,499,109 (GRCm39) |
I390V |
probably benign |
Het |
| Notch4 |
A |
T |
17: 34,806,172 (GRCm39) |
D1756V |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,576,188 (GRCm39) |
|
probably null |
Het |
| Or14c41 |
T |
A |
7: 86,235,312 (GRCm39) |
Y276* |
probably null |
Het |
| Or8k38 |
A |
T |
2: 86,488,061 (GRCm39) |
V247E |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,115,990 (GRCm39) |
Y3006C |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,330,342 (GRCm39) |
L503Q |
probably damaging |
Het |
| Serinc5 |
A |
G |
13: 92,842,648 (GRCm39) |
D366G |
probably damaging |
Het |
| Slain1 |
A |
G |
14: 103,923,213 (GRCm39) |
D102G |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,757,291 (GRCm39) |
I469F |
possibly damaging |
Het |
| Tomm70a |
T |
A |
16: 56,958,465 (GRCm39) |
S273T |
probably benign |
Het |
| Trak1 |
G |
T |
9: 121,275,860 (GRCm39) |
V281L |
probably damaging |
Het |
| Trib2 |
T |
C |
12: 15,843,967 (GRCm39) |
N225S |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,703 (GRCm39) |
K685N |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,418 (GRCm39) |
H142Q |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,303 (GRCm39) |
I1037V |
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 |
|
IGL02129:Btnl9
|
APN |
11 |
49,060,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation