Incidental Mutation 'IGL01155:Btnl9'
| ID |
52409 |
| 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 # |
IGL01155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
49059152-49077916 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49066518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 349
(F349L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046522]
[ENSMUST00000066531]
[ENSMUST00000153999]
|
| AlphaFold |
Q8BJE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046522
AA Change: F248L
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: F248L
| 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: F349L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: F349L
| 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 |
probably benign
Transcript: ENSMUST00000153999
AA Change: F154L
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120530
Gene: ENSMUSG00000040283
AA Change: F154L
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,708,740 (GRCm39) |
I409N |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,219,684 (GRCm39) |
D29G |
probably damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,885,365 (GRCm39) |
T322K |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,269,207 (GRCm39) |
|
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,915,895 (GRCm39) |
T282A |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,971,553 (GRCm39) |
T985A |
probably damaging |
Het |
| Bves |
T |
A |
10: 45,229,955 (GRCm39) |
I253K |
probably damaging |
Het |
| Cars1 |
T |
A |
7: 143,123,586 (GRCm39) |
Y455F |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cuedc2 |
C |
A |
19: 46,321,088 (GRCm39) |
V15F |
probably damaging |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Fat1 |
G |
A |
8: 45,476,986 (GRCm39) |
A2011T |
probably damaging |
Het |
| Fyb2 |
C |
T |
4: 104,856,583 (GRCm39) |
T533I |
probably benign |
Het |
| Gm1043 |
T |
C |
5: 37,344,433 (GRCm39) |
L182P |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,752,201 (GRCm39) |
V1295E |
possibly damaging |
Het |
| Il12b |
T |
A |
11: 44,294,915 (GRCm39) |
S18T |
probably benign |
Het |
| Iqcg |
A |
G |
16: 32,861,245 (GRCm39) |
V157A |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,744,207 (GRCm39) |
M937K |
probably benign |
Het |
| Large1 |
T |
C |
8: 73,858,617 (GRCm39) |
S84G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,660,947 (GRCm39) |
T54A |
probably benign |
Het |
| Mfn1 |
A |
G |
3: 32,596,985 (GRCm39) |
M148V |
probably damaging |
Het |
| Mobp |
C |
A |
9: 119,997,300 (GRCm39) |
T73K |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,607,019 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,360,680 (GRCm39) |
|
probably benign |
Het |
| Mzt2 |
A |
C |
16: 15,680,274 (GRCm39) |
S104A |
possibly damaging |
Het |
| Naa16 |
T |
A |
14: 79,622,155 (GRCm39) |
K27N |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,083,991 (GRCm39) |
I1267N |
probably damaging |
Het |
| Or10j5 |
T |
A |
1: 172,784,491 (GRCm39) |
I43N |
probably benign |
Het |
| Rara |
A |
G |
11: 98,859,010 (GRCm39) |
E153G |
possibly damaging |
Het |
| Scn2a |
T |
G |
2: 65,548,092 (GRCm39) |
S66A |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,291,426 (GRCm39) |
|
probably null |
Het |
| Sorbs3 |
A |
G |
14: 70,436,790 (GRCm39) |
V136A |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,114,214 (GRCm39) |
H143Q |
probably benign |
Het |
| Susd2 |
G |
A |
10: 75,476,726 (GRCm39) |
T99I |
possibly damaging |
Het |
| T |
C |
T |
17: 8,660,577 (GRCm39) |
|
probably null |
Het |
| Tac2 |
G |
A |
10: 127,562,003 (GRCm39) |
|
probably null |
Het |
| Tfap4 |
G |
T |
16: 4,365,223 (GRCm39) |
P180T |
probably damaging |
Het |
| Trap1 |
G |
A |
16: 3,861,842 (GRCm39) |
Q641* |
probably null |
Het |
| Unc119 |
A |
G |
11: 78,239,435 (GRCm39) |
N252S |
probably damaging |
Het |
|
| Other mutations in Btnl9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation