Incidental Mutation 'R5490:Btnl9'
ID |
432048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl9
|
Ensembl Gene |
ENSMUSG00000040283 |
Gene Name |
butyrophilin-like 9 |
Synonyms |
D330012D11Rik |
MMRRC Submission |
043051-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R5490 (G1)
|
Quality Score |
102 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
49059152-49077916 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49060395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 451
(E451G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046522]
[ENSMUST00000066531]
|
AlphaFold |
Q8BJE2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046522
AA Change: E366G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000046229 Gene: ENSMUSG00000040283 AA Change: E366G
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: E451G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066598 Gene: ENSMUSG00000040283 AA Change: E451G
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
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
C |
T |
11: 84,401,099 (GRCm39) |
G174D |
probably damaging |
Het |
Abcc1 |
G |
T |
16: 14,228,781 (GRCm39) |
G343C |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,780,646 (GRCm39) |
N370S |
probably benign |
Het |
Cblb |
A |
G |
16: 51,994,733 (GRCm39) |
H658R |
possibly damaging |
Het |
Cdca2 |
T |
C |
14: 67,917,733 (GRCm39) |
E555G |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,300,995 (GRCm39) |
S299G |
possibly damaging |
Het |
Eea1 |
A |
G |
10: 95,861,916 (GRCm39) |
E741G |
probably benign |
Het |
Gapvd1 |
T |
C |
2: 34,583,445 (GRCm39) |
D1057G |
probably benign |
Het |
Glyat |
C |
T |
19: 12,627,645 (GRCm39) |
T80M |
probably benign |
Het |
Gpr87 |
T |
C |
3: 59,086,747 (GRCm39) |
S253G |
probably damaging |
Het |
Hapstr1 |
T |
A |
16: 8,673,721 (GRCm39) |
V216E |
probably damaging |
Het |
Hmgxb3 |
A |
G |
18: 61,296,049 (GRCm39) |
S320P |
probably damaging |
Het |
Kcnq5 |
C |
T |
1: 21,549,692 (GRCm39) |
G345D |
probably damaging |
Het |
Kif5c |
T |
C |
2: 49,648,870 (GRCm39) |
V938A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Madd |
G |
T |
2: 91,000,980 (GRCm39) |
T467K |
possibly damaging |
Het |
Mamdc4 |
T |
C |
2: 25,455,890 (GRCm39) |
D706G |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,452,292 (GRCm39) |
H476R |
probably damaging |
Het |
Mgat4f |
A |
G |
1: 134,317,666 (GRCm39) |
D146G |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,439,057 (GRCm39) |
S172P |
probably damaging |
Het |
Nkx2-3 |
A |
T |
19: 43,601,093 (GRCm39) |
T52S |
probably benign |
Het |
Nup210 |
C |
T |
6: 91,062,970 (GRCm39) |
V230I |
probably damaging |
Het |
Or1j19 |
T |
A |
2: 36,677,193 (GRCm39) |
Y219N |
probably damaging |
Het |
Or51f2 |
T |
C |
7: 102,527,100 (GRCm39) |
S258P |
probably damaging |
Het |
Or5g9 |
G |
T |
2: 85,552,666 (GRCm39) |
A306S |
probably benign |
Het |
Pepd |
A |
G |
7: 34,642,115 (GRCm39) |
|
probably null |
Het |
Ppp1r36 |
T |
A |
12: 76,484,760 (GRCm39) |
W238R |
probably damaging |
Het |
Ppp1r36 |
G |
T |
12: 76,484,761 (GRCm39) |
W238L |
possibly damaging |
Het |
Prpf6 |
T |
G |
2: 181,249,958 (GRCm39) |
D39E |
probably benign |
Het |
Rassf5 |
T |
A |
1: 131,108,932 (GRCm39) |
Q163L |
possibly damaging |
Het |
Rbm43 |
T |
A |
2: 51,815,607 (GRCm39) |
T205S |
probably benign |
Het |
Relch |
T |
A |
1: 105,647,226 (GRCm39) |
V672D |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sds |
C |
A |
5: 120,621,715 (GRCm39) |
Q286K |
possibly damaging |
Het |
Slc35a3 |
A |
T |
3: 116,474,839 (GRCm39) |
C184* |
probably null |
Het |
Smg1 |
G |
A |
7: 117,738,659 (GRCm39) |
T3530I |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,470,214 (GRCm39) |
V591A |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,610,929 (GRCm39) |
D31G |
probably damaging |
Het |
Star |
A |
G |
8: 26,299,945 (GRCm39) |
K96E |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,921,931 (GRCm39) |
L495P |
probably damaging |
Het |
Tceanc2 |
A |
T |
4: 107,022,846 (GRCm39) |
M47K |
probably benign |
Het |
Tecpr2 |
T |
C |
12: 110,881,118 (GRCm39) |
L85P |
probably damaging |
Het |
Tmem241 |
C |
T |
18: 12,176,320 (GRCm39) |
R116K |
probably benign |
Het |
Yipf2 |
G |
A |
9: 21,503,487 (GRCm39) |
A20V |
probably benign |
Het |
Zc3h4 |
T |
A |
7: 16,162,930 (GRCm39) |
D443E |
unknown |
Het |
Zfp184 |
T |
A |
13: 22,142,747 (GRCm39) |
V151D |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,695 (GRCm39) |
Y517C |
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 |
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 |
|
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'- AAGAAAGACAGCTTCCCGGC -3'
(R):5'- TTTCTGAACCTTCCTCAGTAGG -3'
Sequencing Primer
(F):5'- AAGTACTCGCAGCGGTTC -3'
(R):5'- TGAACCTTCCTCAGTAGGTACTAAC -3'
|
Posted On |
2016-10-05 |