Incidental Mutation 'IGL02796:Btnl9'
| ID |
392034 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02796 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
49059152-49077916 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49060008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 580
(D580G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046522]
[ENSMUST00000066531]
|
| AlphaFold |
Q8BJE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046522
AA Change: D495G
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: D495G
| 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: D580G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: D580G
| 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
|
| Meta Mutation Damage Score |
0.1206 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
A |
T |
19: 55,266,601 (GRCm39) |
K86* |
probably null |
Het |
| Ambp |
C |
A |
4: 63,072,169 (GRCm39) |
|
probably benign |
Het |
| Atp6v0d2 |
A |
T |
4: 19,887,324 (GRCm39) |
M208K |
probably damaging |
Het |
| Brinp1 |
C |
G |
4: 68,680,427 (GRCm39) |
R701P |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,049,543 (GRCm39) |
L401H |
probably damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,208,523 (GRCm39) |
E577G |
possibly damaging |
Het |
| Ccdc93 |
C |
A |
1: 121,418,895 (GRCm39) |
D483E |
probably damaging |
Het |
| Cd38 |
T |
C |
5: 44,063,555 (GRCm39) |
L216P |
probably damaging |
Het |
| Cdr1 |
C |
T |
X: 60,228,087 (GRCm39) |
D360N |
possibly damaging |
Het |
| Cibar2 |
C |
T |
8: 120,904,138 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
T |
2: 180,255,955 (GRCm39) |
D443Y |
probably damaging |
Het |
| Cpt1b |
C |
T |
15: 89,309,005 (GRCm39) |
V66I |
probably benign |
Het |
| Cyp8b1 |
T |
A |
9: 121,744,564 (GRCm39) |
Y256F |
probably benign |
Het |
| Dennd10 |
A |
G |
19: 60,806,081 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,757,385 (GRCm39) |
N48S |
probably benign |
Het |
| Ehd3 |
T |
A |
17: 74,123,396 (GRCm39) |
L133Q |
probably damaging |
Het |
| Eif6 |
C |
A |
2: 155,668,068 (GRCm39) |
R57L |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,800,576 (GRCm39) |
|
probably benign |
Het |
| Fgl1 |
C |
T |
8: 41,650,095 (GRCm39) |
A229T |
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Gdf7 |
A |
T |
12: 8,351,666 (GRCm39) |
S90T |
unknown |
Het |
| Ggta1 |
T |
C |
2: 35,303,329 (GRCm39) |
|
probably benign |
Het |
| Gm44859 |
C |
T |
19: 12,014,112 (GRCm39) |
|
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,972 (GRCm39) |
E838G |
possibly damaging |
Het |
| Grin2c |
A |
G |
11: 115,141,543 (GRCm39) |
|
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,565,411 (GRCm39) |
T966A |
probably benign |
Het |
| Gtpbp1 |
A |
G |
15: 79,601,186 (GRCm39) |
I468M |
possibly damaging |
Het |
| Gucy1b2 |
G |
A |
14: 62,645,143 (GRCm39) |
P639S |
probably benign |
Het |
| Hat1 |
T |
C |
2: 71,250,700 (GRCm39) |
|
probably null |
Het |
| Hira |
A |
T |
16: 18,744,404 (GRCm39) |
I374F |
probably benign |
Het |
| Htt |
C |
A |
5: 35,034,826 (GRCm39) |
Q2024K |
probably benign |
Het |
| Kcnj6 |
A |
G |
16: 94,633,778 (GRCm39) |
M111T |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,456,811 (GRCm39) |
|
probably benign |
Het |
| Lrif1 |
T |
A |
3: 106,642,752 (GRCm39) |
M619K |
probably benign |
Het |
| Lrrc8b |
G |
A |
5: 105,629,211 (GRCm39) |
G519D |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,979,692 (GRCm39) |
|
probably benign |
Het |
| Or2ah1 |
T |
C |
2: 85,653,933 (GRCm39) |
I206T |
probably benign |
Het |
| Or4d6 |
T |
A |
19: 12,086,248 (GRCm39) |
I221F |
possibly damaging |
Het |
| P2ry12 |
T |
C |
3: 59,125,302 (GRCm39) |
I124M |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,822,182 (GRCm39) |
|
probably benign |
Het |
| Polb |
A |
T |
8: 23,121,474 (GRCm39) |
I257N |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,295,875 (GRCm39) |
V190E |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,362,318 (GRCm39) |
N54K |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,377,989 (GRCm39) |
W90R |
possibly damaging |
Het |
| Snrpb2 |
A |
T |
2: 142,906,487 (GRCm39) |
M1L |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,876,057 (GRCm39) |
Y493H |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,841,548 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
G |
T |
17: 51,273,652 (GRCm39) |
H123Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,445 (GRCm39) |
N17826S |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 89,006,593 (GRCm39) |
I143T |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,338,029 (GRCm39) |
Y268C |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,464,599 (GRCm39) |
V1586M |
probably damaging |
Het |
| Zfp146 |
C |
T |
7: 29,861,983 (GRCm39) |
V20I |
probably benign |
Het |
| Zfp263 |
G |
A |
16: 3,564,740 (GRCm39) |
E252K |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGAGTTCAGGACAGTG -3'
(R):5'- AGGTCTCCAACAACGGCAAG -3'
Sequencing Primer
(F):5'- AGTTCAGGACAGTGCTTGGACC -3'
(R):5'- TGCCCAGTATTGCAGCTG -3'
|
| Posted On |
2016-06-08 |
Incidental Mutation