Incidental Mutation 'R8945:Btnl9'
ID |
681257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl9
|
Ensembl Gene |
ENSMUSG00000040283 |
Gene Name |
butyrophilin-like 9 |
Synonyms |
D330012D11Rik |
MMRRC Submission |
068713-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R8945 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
49059152-49077916 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49065661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 398
(E398G)
|
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: E297G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000046229 Gene: ENSMUSG00000040283 AA Change: E297G
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: E398G
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000066598 Gene: ENSMUSG00000040283 AA Change: E398G
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 |
unknown
Transcript: ENSMUST00000153999
AA Change: E203G
|
SMART Domains |
Protein: ENSMUSP00000120530 Gene: ENSMUSG00000040283 AA Change: E203G
Domain | Start | End | E-Value | Type |
IG
|
44 |
151 |
1.24e-8 |
SMART |
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aopep |
G |
T |
13: 63,388,145 (GRCm39) |
K709N |
probably null |
Het |
Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
Atp6v0a2 |
G |
T |
5: 124,784,589 (GRCm39) |
A291S |
probably damaging |
Het |
Bcl9l |
G |
T |
9: 44,412,238 (GRCm39) |
V38L |
possibly damaging |
Het |
Bmp1 |
T |
C |
14: 70,727,630 (GRCm39) |
Y651C |
probably damaging |
Het |
C2cd3 |
A |
T |
7: 100,040,286 (GRCm39) |
N285I |
possibly damaging |
Het |
Cavin1 |
T |
C |
11: 100,849,659 (GRCm39) |
T324A |
probably damaging |
Het |
Ccdc73 |
A |
G |
2: 104,821,712 (GRCm39) |
T554A |
probably benign |
Het |
Clcn1 |
A |
T |
6: 42,263,701 (GRCm39) |
M1L |
possibly damaging |
Het |
Clec18a |
A |
T |
8: 111,808,201 (GRCm39) |
S77T |
possibly damaging |
Het |
Dhx32 |
A |
G |
7: 133,323,876 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
Dnah10 |
A |
C |
5: 124,891,006 (GRCm39) |
E3199A |
probably damaging |
Het |
Dnah11 |
G |
T |
12: 117,987,718 (GRCm39) |
L2395I |
probably benign |
Het |
Dthd1 |
A |
T |
5: 63,007,096 (GRCm39) |
Y599F |
probably benign |
Het |
Dusp26 |
G |
A |
8: 31,586,367 (GRCm39) |
R196K |
unknown |
Het |
Dyrk1a |
A |
G |
16: 94,466,866 (GRCm39) |
Y140C |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,766,438 (GRCm39) |
Y588* |
probably null |
Het |
Eml6 |
T |
A |
11: 29,703,110 (GRCm39) |
T1603S |
probably damaging |
Het |
Fam162b |
T |
C |
10: 51,466,469 (GRCm39) |
T17A |
probably benign |
Het |
Fnbp1 |
T |
A |
2: 30,995,346 (GRCm39) |
K29N |
probably damaging |
Het |
Fzd4 |
A |
T |
7: 89,056,792 (GRCm39) |
I280L |
possibly damaging |
Het |
G3bp2 |
G |
A |
5: 92,216,281 (GRCm39) |
T85I |
probably damaging |
Het |
Gm13283 |
C |
T |
4: 88,679,123 (GRCm39) |
A38V |
probably benign |
Het |
Hps3 |
T |
A |
3: 20,068,224 (GRCm39) |
H610L |
probably damaging |
Het |
Ifnlr1 |
T |
G |
4: 135,431,609 (GRCm39) |
L266R |
probably damaging |
Het |
Jak1 |
A |
T |
4: 101,020,109 (GRCm39) |
D683E |
probably benign |
Het |
Lrrc1 |
G |
A |
9: 77,342,373 (GRCm39) |
T412M |
probably damaging |
Het |
Mdga1 |
G |
T |
17: 30,058,959 (GRCm39) |
|
probably benign |
Het |
Med26 |
T |
C |
8: 73,250,934 (GRCm39) |
K55R |
probably benign |
Het |
Mturn |
C |
A |
6: 54,666,017 (GRCm39) |
C63* |
probably null |
Het |
Myo1h |
A |
C |
5: 114,470,784 (GRCm39) |
D381A |
probably damaging |
Het |
Nectin1 |
A |
G |
9: 43,703,237 (GRCm39) |
D165G |
probably benign |
Het |
Nktr |
T |
A |
9: 121,575,558 (GRCm39) |
D330E |
possibly damaging |
Het |
Oprm1 |
A |
T |
10: 6,782,644 (GRCm39) |
|
probably benign |
Het |
Papola |
T |
A |
12: 105,775,946 (GRCm39) |
|
probably benign |
Het |
Pdcl2 |
A |
T |
5: 76,465,675 (GRCm39) |
C134S |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,639,039 (GRCm39) |
Y478C |
probably benign |
Het |
Rev1 |
A |
T |
1: 38,122,824 (GRCm39) |
W465R |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,419,817 (GRCm39) |
I432F |
probably benign |
Het |
Samd14 |
A |
C |
11: 94,912,027 (GRCm39) |
D168A |
probably damaging |
Het |
Sdk1 |
G |
T |
5: 141,598,935 (GRCm39) |
C200F |
probably benign |
Het |
Spmip2 |
A |
G |
3: 79,252,812 (GRCm39) |
H9R |
probably benign |
Het |
Spsb1 |
T |
C |
4: 149,991,475 (GRCm39) |
Y31C |
possibly damaging |
Het |
Spz1 |
T |
C |
13: 92,711,499 (GRCm39) |
K326E |
possibly damaging |
Het |
Tcaf1 |
C |
T |
6: 42,663,307 (GRCm39) |
S191N |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,064,724 (GRCm39) |
S1385G |
probably benign |
Het |
Tmem38a |
C |
T |
8: 73,338,570 (GRCm39) |
A194V |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,929,945 (GRCm39) |
N137S |
probably benign |
Het |
Tshr |
T |
C |
12: 91,504,997 (GRCm39) |
L645P |
probably damaging |
Het |
Tspyl4 |
T |
A |
10: 34,173,461 (GRCm39) |
|
probably benign |
Het |
Unc13a |
T |
A |
8: 72,100,597 (GRCm39) |
I1064F |
probably damaging |
Het |
Utp20 |
G |
A |
10: 88,628,532 (GRCm39) |
Q921* |
probably null |
Het |
Vps13a |
A |
T |
19: 16,642,114 (GRCm39) |
I2171N |
probably damaging |
Het |
Zfp40 |
A |
G |
17: 23,401,201 (GRCm39) |
V14A |
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 |
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 |
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'- CCAAGGTATGCAGTCTCAGTG -3'
(R):5'- CACCAGGGAGTCTAACATCCAG -3'
Sequencing Primer
(F):5'- ATGCAGTCTCAGTGCTTTGC -3'
(R):5'- AGGGAGTCTAACATCCAGTCTTTC -3'
|
Posted On |
2021-08-31 |