Incidental Mutation 'R1199:Btnl9'
ID |
101226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl9
|
Ensembl Gene |
ENSMUSG00000040283 |
Gene Name |
butyrophilin-like 9 |
Synonyms |
D330012D11Rik |
MMRRC Submission |
039269-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R1199 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
49059152-49077916 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49071574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 83
(V83E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046522]
[ENSMUST00000066531]
[ENSMUST00000153999]
|
AlphaFold |
Q8BJE2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046522
AA Change: V83E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046229 Gene: ENSMUSG00000040283 AA Change: V83E
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: V83E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066598 Gene: ENSMUSG00000040283 AA Change: V83E
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 damaging
Transcript: ENSMUST00000153999
AA Change: V83E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120530 Gene: ENSMUSG00000040283 AA Change: V83E
Domain | Start | End | E-Value | Type |
IG
|
44 |
151 |
1.24e-8 |
SMART |
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.8997 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
T |
9: 108,270,676 (GRCm39) |
H80L |
possibly damaging |
Het |
A1bg |
A |
T |
15: 60,791,484 (GRCm39) |
|
probably null |
Het |
Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
Agrn |
T |
A |
4: 156,256,756 (GRCm39) |
Y1283F |
probably benign |
Het |
Akap6 |
T |
C |
12: 52,842,973 (GRCm39) |
V107A |
probably damaging |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Camk2a |
T |
A |
18: 61,085,396 (GRCm39) |
C131* |
probably null |
Het |
Ccdc14 |
C |
T |
16: 34,544,198 (GRCm39) |
T852M |
probably damaging |
Het |
Cntn4 |
T |
C |
6: 106,330,558 (GRCm39) |
|
probably benign |
Het |
Cp |
T |
G |
3: 20,031,316 (GRCm39) |
S585R |
probably damaging |
Het |
Cpt1b |
G |
A |
15: 89,303,213 (GRCm39) |
A614V |
probably benign |
Het |
Crygn |
T |
C |
5: 24,956,146 (GRCm39) |
Y153C |
probably damaging |
Het |
Dennd1a |
A |
T |
2: 37,851,728 (GRCm39) |
D53E |
probably damaging |
Het |
Deptor |
T |
C |
15: 55,115,406 (GRCm39) |
C357R |
probably benign |
Het |
Dnajc28 |
C |
A |
16: 91,415,530 (GRCm39) |
|
probably benign |
Het |
Eml6 |
G |
A |
11: 29,705,044 (GRCm39) |
A1500V |
possibly damaging |
Het |
Fgd5 |
T |
A |
6: 91,963,959 (GRCm39) |
L64Q |
possibly damaging |
Het |
Fgfbp1 |
A |
G |
5: 44,136,939 (GRCm39) |
Y118H |
probably damaging |
Het |
Ftcd |
G |
A |
10: 76,415,653 (GRCm39) |
R135H |
probably damaging |
Het |
Gm5174 |
A |
T |
10: 86,493,189 (GRCm39) |
|
noncoding transcript |
Het |
Gpr37l1 |
A |
T |
1: 135,094,710 (GRCm39) |
L178Q |
probably damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,439,918 (GRCm39) |
V104A |
possibly damaging |
Het |
Irs1 |
T |
A |
1: 82,267,347 (GRCm39) |
S290C |
probably damaging |
Het |
Kel |
C |
T |
6: 41,665,525 (GRCm39) |
V532I |
possibly damaging |
Het |
Kif1c |
A |
G |
11: 70,599,427 (GRCm39) |
E442G |
possibly damaging |
Het |
Klhdc10 |
T |
A |
6: 30,449,493 (GRCm39) |
V185D |
probably damaging |
Het |
Lpp |
C |
T |
16: 24,500,610 (GRCm39) |
R141C |
probably damaging |
Het |
Or52a5 |
A |
T |
7: 103,427,192 (GRCm39) |
M120K |
probably damaging |
Het |
Or5m13 |
A |
G |
2: 85,748,379 (GRCm39) |
I37V |
probably benign |
Het |
Pcnx2 |
G |
T |
8: 126,614,053 (GRCm39) |
P466H |
possibly damaging |
Het |
Pcsk1 |
A |
T |
13: 75,244,532 (GRCm39) |
|
probably benign |
Het |
Pkd2l2 |
T |
C |
18: 34,571,269 (GRCm39) |
|
probably null |
Het |
Pomt1 |
A |
G |
2: 32,140,504 (GRCm39) |
N454S |
probably benign |
Het |
Samhd1 |
A |
T |
2: 156,951,381 (GRCm39) |
I452N |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,844,711 (GRCm39) |
Q178R |
probably benign |
Het |
Slc25a44 |
A |
G |
3: 88,328,293 (GRCm39) |
V66A |
probably damaging |
Het |
Slc46a2 |
T |
C |
4: 59,914,189 (GRCm39) |
T245A |
probably benign |
Het |
Slc4a4 |
G |
A |
5: 89,363,653 (GRCm39) |
|
probably null |
Het |
Spata6 |
T |
A |
4: 111,656,342 (GRCm39) |
C329S |
possibly damaging |
Het |
Srrm2 |
A |
T |
17: 24,036,725 (GRCm39) |
|
probably benign |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Svil |
T |
A |
18: 5,059,217 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
G |
T |
8: 48,688,617 (GRCm39) |
S2323R |
probably damaging |
Het |
Tsc1 |
G |
A |
2: 28,555,638 (GRCm39) |
R245Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,739,100 (GRCm39) |
V3813A |
probably benign |
Het |
Ttn |
G |
A |
2: 76,780,388 (GRCm39) |
T1121M |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,491,992 (GRCm39) |
V3094I |
probably benign |
Het |
Vcan |
A |
G |
13: 89,827,913 (GRCm39) |
|
probably null |
Het |
Vmn1r189 |
A |
T |
13: 22,286,828 (GRCm39) |
L3Q |
probably damaging |
Het |
Vmn1r60 |
A |
C |
7: 5,547,971 (GRCm39) |
V43G |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,803,525 (GRCm39) |
I350T |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,284,443 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
A |
G |
9: 95,863,814 (GRCm39) |
|
probably benign |
Het |
Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly 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 |
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'- GAACGTACCTGCTACTTCCAGCTC -3'
(R):5'- AGCTCCTCAAATGGCATCTGCTTG -3'
Sequencing Primer
(F):5'- GGCTTCACCAGAGAAGTTGTC -3'
(R):5'- TCATACCAAGACGCAGAGCA -3'
|
Posted On |
2014-01-15 |