Incidental Mutation 'R5433:Btnl9'
ID |
428167 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl9
|
Ensembl Gene |
ENSMUSG00000040283 |
Gene Name |
butyrophilin-like 9 |
Synonyms |
D330012D11Rik |
MMRRC Submission |
042998-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R5433 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
49059152-49077916 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 49066830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046522]
[ENSMUST00000066531]
[ENSMUST00000153999]
|
AlphaFold |
Q8BJE2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046522
|
SMART Domains |
Protein: ENSMUSP00000046229 Gene: ENSMUSG00000040283
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 |
unknown
Transcript: ENSMUST00000066531
AA Change: T264S
|
SMART Domains |
Protein: ENSMUSP00000066598 Gene: ENSMUSG00000040283 AA Change: T264S
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
|
SMART Domains |
Protein: ENSMUSP00000120530 Gene: ENSMUSG00000040283
Domain | Start | End | E-Value | Type |
IG
|
44 |
151 |
1.24e-8 |
SMART |
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019D03Rik |
T |
C |
1: 52,964,657 (GRCm39) |
S24G |
probably damaging |
Het |
1810064F22Rik |
A |
G |
9: 22,119,039 (GRCm39) |
|
noncoding transcript |
Het |
Aacs |
A |
T |
5: 125,592,078 (GRCm39) |
M589L |
probably benign |
Het |
Adamts8 |
A |
C |
9: 30,873,012 (GRCm39) |
H739P |
probably benign |
Het |
Atp8b2 |
T |
C |
3: 89,860,216 (GRCm39) |
|
probably benign |
Het |
BC030500 |
A |
G |
8: 59,366,043 (GRCm39) |
|
probably benign |
Het |
Cd74 |
G |
T |
18: 60,940,993 (GRCm39) |
A31S |
probably benign |
Het |
Ceacam3 |
G |
A |
7: 16,893,808 (GRCm39) |
A440T |
possibly damaging |
Het |
Ces1d |
G |
A |
8: 93,912,664 (GRCm39) |
T258I |
probably benign |
Het |
Col10a1 |
A |
G |
10: 34,266,735 (GRCm39) |
|
probably benign |
Het |
Coro1b |
C |
T |
19: 4,203,449 (GRCm39) |
A430V |
probably benign |
Het |
Cyp2c65 |
A |
T |
19: 39,081,928 (GRCm39) |
I485L |
probably benign |
Het |
Dio1 |
A |
T |
4: 107,163,977 (GRCm39) |
|
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,000,966 (GRCm39) |
|
probably null |
Het |
Dynlt5 |
A |
G |
4: 102,859,700 (GRCm39) |
E84G |
possibly damaging |
Het |
Elp6 |
A |
G |
9: 110,144,851 (GRCm39) |
Y136C |
probably damaging |
Het |
Gon4l |
A |
T |
3: 88,803,532 (GRCm39) |
Q1382L |
possibly damaging |
Het |
Guca1a |
T |
C |
17: 47,711,295 (GRCm39) |
E17G |
probably damaging |
Het |
Gucy2d |
G |
A |
7: 98,098,982 (GRCm39) |
G267E |
probably damaging |
Het |
Gvin3 |
T |
A |
7: 106,199,314 (GRCm39) |
|
noncoding transcript |
Het |
Hspg2 |
T |
A |
4: 137,256,105 (GRCm39) |
|
probably null |
Het |
Il1a |
G |
T |
2: 129,149,821 (GRCm39) |
D26E |
possibly damaging |
Het |
Il22b |
T |
A |
10: 118,130,789 (GRCm39) |
I36F |
probably damaging |
Het |
Kcna1 |
A |
T |
6: 126,620,075 (GRCm39) |
F82I |
probably damaging |
Het |
Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
Lamtor5 |
T |
G |
3: 107,189,323 (GRCm39) |
C120G |
probably benign |
Het |
Lars1 |
A |
G |
18: 42,384,363 (GRCm39) |
C72R |
possibly damaging |
Het |
Lrrfip1 |
T |
G |
1: 91,014,848 (GRCm39) |
|
probably null |
Het |
Mapkapk3 |
T |
C |
9: 107,133,491 (GRCm39) |
D349G |
probably damaging |
Het |
Mknk2 |
A |
T |
10: 80,503,059 (GRCm39) |
I421N |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,191,381 (GRCm39) |
I820T |
probably benign |
Het |
Notch2 |
T |
G |
3: 98,033,450 (GRCm39) |
V1182G |
probably damaging |
Het |
Or1af1 |
T |
G |
2: 37,109,684 (GRCm39) |
F61C |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2z2 |
C |
T |
11: 58,346,680 (GRCm39) |
V32M |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,245,632 (GRCm39) |
S641T |
probably damaging |
Het |
Prok1 |
T |
A |
3: 107,146,949 (GRCm39) |
H6L |
probably benign |
Het |
Ptprm |
A |
T |
17: 67,000,468 (GRCm39) |
V1172E |
probably damaging |
Het |
Rasal3 |
C |
T |
17: 32,612,575 (GRCm39) |
R762Q |
probably benign |
Het |
Rgs20 |
G |
T |
1: 5,140,333 (GRCm39) |
A23E |
possibly damaging |
Het |
Rprd1a |
T |
C |
18: 24,640,288 (GRCm39) |
T163A |
probably benign |
Het |
Rrm1 |
A |
T |
7: 102,114,974 (GRCm39) |
N37I |
probably damaging |
Het |
Shc4 |
T |
A |
2: 125,481,350 (GRCm39) |
E520V |
probably damaging |
Het |
Slc14a2 |
G |
T |
18: 78,252,143 (GRCm39) |
P56Q |
probably damaging |
Het |
Slc22a3 |
C |
T |
17: 12,677,377 (GRCm39) |
G264S |
probably damaging |
Het |
Svil |
A |
G |
18: 5,059,294 (GRCm39) |
E770G |
probably damaging |
Het |
Svop |
A |
G |
5: 114,198,186 (GRCm39) |
V129A |
probably damaging |
Het |
Szt2 |
A |
T |
4: 118,232,663 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,951,105 (GRCm39) |
|
probably benign |
Het |
Tmem30a |
T |
A |
9: 79,687,930 (GRCm39) |
I80F |
probably damaging |
Het |
Vmn2r16 |
G |
T |
5: 109,511,708 (GRCm39) |
L638F |
probably damaging |
Het |
Xkr7 |
T |
A |
2: 152,896,244 (GRCm39) |
I366N |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,990,998 (GRCm39) |
|
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 |
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 |
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'- TCTTCAGTGGGAGCCTCTCTAG -3'
(R):5'- GCTGTTATTACCCCAGAGCC -3'
Sequencing Primer
(F):5'- GAGCCTCTCTAGCCAGGTATGAAC -3'
(R):5'- ATTTCACCTGCAGGCCACTAG -3'
|
Posted On |
2016-09-01 |