Incidental Mutation 'IGL01923:Btnl9'
| ID |
180162 |
| 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 # |
IGL01923
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
49059152-49077916 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49071409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 138
(D138G)
|
| 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: D138G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: D138G
| 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: D138G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: D138G
| 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: D138G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120530
Gene: ENSMUSG00000040283
AA Change: D138G
| 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 |
|---|
| Adgrd1 |
T |
A |
5: 129,255,143 (GRCm39) |
S597T |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,788,829 (GRCm39) |
*1141K |
probably null |
Het |
| Ctnnd2 |
A |
T |
15: 30,480,974 (GRCm39) |
Q74L |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,950,294 (GRCm39) |
W236R |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,606,803 (GRCm39) |
I271N |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,957,182 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
A |
11: 66,016,061 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,404,920 (GRCm39) |
Y275F |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,187,811 (GRCm39) |
*2105R |
probably null |
Het |
| Eif4a1 |
A |
T |
11: 69,563,129 (GRCm39) |
D25E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,883,139 (GRCm39) |
I2557N |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm12253 |
G |
T |
11: 58,325,727 (GRCm39) |
|
probably null |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hsd17b7 |
A |
G |
1: 169,787,035 (GRCm39) |
V254A |
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,840,633 (GRCm39) |
D143V |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,557,186 (GRCm39) |
V1417A |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,274,237 (GRCm39) |
A4926T |
possibly damaging |
Het |
| Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,222,916 (GRCm39) |
|
probably null |
Het |
| Or6c65 |
T |
A |
10: 129,603,973 (GRCm39) |
F203I |
probably benign |
Het |
| Pbx2 |
A |
G |
17: 34,813,024 (GRCm39) |
D160G |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,619,790 (GRCm39) |
F527L |
probably benign |
Het |
| Ppm1b |
T |
C |
17: 85,301,489 (GRCm39) |
L123P |
probably damaging |
Het |
| Ppm1k |
T |
A |
6: 57,499,813 (GRCm39) |
K154N |
probably benign |
Het |
| Ppp2r1a |
T |
G |
17: 21,185,731 (GRCm39) |
*590G |
probably null |
Het |
| Raver1 |
A |
T |
9: 20,990,536 (GRCm39) |
L589Q |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,832,081 (GRCm39) |
S29P |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,784,634 (GRCm39) |
Y673H |
probably damaging |
Het |
| Serpina3j |
T |
A |
12: 104,281,473 (GRCm39) |
|
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,817,116 (GRCm39) |
E70G |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,287,492 (GRCm39) |
Q139R |
probably damaging |
Het |
| Sva |
T |
A |
6: 42,019,104 (GRCm39) |
H91Q |
probably benign |
Het |
| Tmem263 |
C |
T |
10: 84,950,295 (GRCm39) |
Q29* |
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,400,857 (GRCm39) |
N57D |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,484 (GRCm39) |
I507L |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,234,046 (GRCm39) |
|
probably null |
Het |
| Zfp236 |
C |
T |
18: 82,700,344 (GRCm39) |
E42K |
probably 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 |
|
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 |
2014-05-07 |
Incidental Mutation