Incidental Mutation 'IGL03368:Btnl10'
ID |
420182 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Btnl10
|
Ensembl Gene |
ENSMUSG00000020490 |
Gene Name |
butyrophilin-like 10 |
Synonyms |
BUTR-1, Butr1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
IGL03368
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
58808703-58817791 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58810212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 118
(V118I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020792]
[ENSMUST00000069941]
[ENSMUST00000108818]
[ENSMUST00000142499]
|
AlphaFold |
Q9JK39 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020792
AA Change: V118I
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000020792 Gene: ENSMUSG00000020490 AA Change: V118I
Domain | Start | End | E-Value | Type |
IGv
|
49 |
130 |
2.62e-7 |
SMART |
Pfam:C2-set_2
|
150 |
233 |
3.6e-9 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069941
AA Change: V118I
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000063279 Gene: ENSMUSG00000020490 AA Change: V118I
Domain | Start | End | E-Value | Type |
IGv
|
49 |
130 |
2.62e-7 |
SMART |
Pfam:C2-set_2
|
150 |
233 |
5.5e-7 |
PFAM |
PRY
|
300 |
352 |
1.11e-11 |
SMART |
SPRY
|
353 |
474 |
6.55e-24 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108818
AA Change: V118I
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104446 Gene: ENSMUSG00000020490 AA Change: V118I
Domain | Start | End | E-Value | Type |
IGv
|
49 |
130 |
2.62e-7 |
SMART |
Pfam:C2-set_2
|
150 |
233 |
3.6e-9 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142499
AA Change: V118I
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124234 Gene: ENSMUSG00000020490 AA Change: V118I
Domain | Start | End | E-Value | Type |
IGv
|
49 |
130 |
2.62e-7 |
SMART |
Pfam:C2-set_2
|
151 |
233 |
1e-8 |
PFAM |
PRY
|
300 |
352 |
1.11e-11 |
SMART |
SPRY
|
353 |
474 |
6.55e-24 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530053G22Rik |
T |
C |
6: 60,380,530 (GRCm39) |
|
noncoding transcript |
Het |
Abca5 |
A |
G |
11: 110,204,348 (GRCm39) |
|
probably benign |
Het |
Agxt2 |
T |
A |
15: 10,388,256 (GRCm39) |
C278* |
probably null |
Het |
Ankar |
A |
G |
1: 72,714,972 (GRCm39) |
L384P |
probably damaging |
Het |
Ankrd55 |
T |
C |
13: 112,455,090 (GRCm39) |
|
probably benign |
Het |
Ap5m1 |
A |
G |
14: 49,318,593 (GRCm39) |
|
probably benign |
Het |
Arhgap18 |
C |
T |
10: 26,648,689 (GRCm39) |
S37F |
possibly damaging |
Het |
Chst11 |
C |
A |
10: 82,927,980 (GRCm39) |
P66T |
probably benign |
Het |
Cited2 |
C |
A |
10: 17,599,944 (GRCm39) |
P84Q |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,251,857 (GRCm39) |
V1914A |
probably benign |
Het |
Dpy19l4 |
T |
A |
4: 11,290,253 (GRCm39) |
I302F |
possibly damaging |
Het |
Ece2 |
A |
G |
16: 20,462,908 (GRCm39) |
E640G |
possibly damaging |
Het |
Fam184b |
T |
C |
5: 45,689,166 (GRCm39) |
D890G |
possibly damaging |
Het |
Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
Foxp2 |
A |
G |
6: 15,394,717 (GRCm39) |
K139R |
probably damaging |
Het |
Gle1 |
T |
C |
2: 29,833,805 (GRCm39) |
C401R |
probably damaging |
Het |
Gp2 |
A |
T |
7: 119,052,097 (GRCm39) |
C206S |
probably damaging |
Het |
Hdgfl2 |
G |
T |
17: 56,386,746 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,539,623 (GRCm39) |
N2956S |
probably damaging |
Het |
Ifi209 |
A |
G |
1: 173,470,057 (GRCm39) |
Q215R |
possibly damaging |
Het |
Il20rb |
C |
T |
9: 100,341,174 (GRCm39) |
|
probably benign |
Het |
Katnip |
T |
C |
7: 125,468,030 (GRCm39) |
|
probably benign |
Het |
Kif26b |
A |
C |
1: 178,743,773 (GRCm39) |
S1290R |
probably damaging |
Het |
Mical1 |
A |
G |
10: 41,355,625 (GRCm39) |
I156M |
probably damaging |
Het |
Nbas |
C |
T |
12: 13,378,452 (GRCm39) |
A613V |
probably benign |
Het |
Nbea |
C |
T |
3: 55,987,351 (GRCm39) |
V380M |
probably damaging |
Het |
Nutf2 |
T |
C |
8: 106,602,232 (GRCm39) |
F14S |
probably damaging |
Het |
Or4c35 |
A |
T |
2: 89,808,133 (GRCm39) |
I4L |
probably benign |
Het |
Or52r1b |
T |
A |
7: 102,690,972 (GRCm39) |
H95Q |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,408,187 (GRCm39) |
E236G |
probably benign |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Ptcd2 |
T |
A |
13: 99,466,577 (GRCm39) |
|
probably benign |
Het |
Pygl |
T |
C |
12: 70,237,926 (GRCm39) |
Q704R |
probably benign |
Het |
Scaper |
A |
T |
9: 55,563,311 (GRCm39) |
S492T |
possibly damaging |
Het |
Sephs1 |
G |
A |
2: 4,894,080 (GRCm39) |
D94N |
possibly damaging |
Het |
Slc22a29 |
A |
C |
19: 8,184,626 (GRCm39) |
|
probably null |
Het |
Slc22a8 |
G |
T |
19: 8,586,483 (GRCm39) |
|
probably benign |
Het |
Slfn5 |
A |
G |
11: 82,847,211 (GRCm39) |
D32G |
possibly damaging |
Het |
Sphkap |
T |
A |
1: 83,253,397 (GRCm39) |
T1451S |
probably benign |
Het |
Srp54a |
A |
C |
12: 55,138,051 (GRCm39) |
E63A |
probably null |
Het |
Stap1 |
T |
A |
5: 86,238,827 (GRCm39) |
I165N |
probably damaging |
Het |
Terf2 |
T |
C |
8: 107,797,181 (GRCm39) |
E494G |
probably damaging |
Het |
Trak1 |
C |
A |
9: 121,196,188 (GRCm39) |
L7I |
possibly damaging |
Het |
Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
U2af2 |
T |
A |
7: 5,070,263 (GRCm39) |
|
probably benign |
Het |
Ube2j1 |
T |
A |
4: 33,038,317 (GRCm39) |
I75N |
probably damaging |
Het |
Ubr5 |
A |
G |
15: 37,998,560 (GRCm39) |
V1643A |
probably damaging |
Het |
Vsx2 |
A |
G |
12: 84,617,074 (GRCm39) |
T120A |
probably benign |
Het |
|
Other mutations in Btnl10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02033:Btnl10
|
APN |
11 |
58,810,141 (GRCm39) |
missense |
probably damaging |
0.98 |
FR4304:Btnl10
|
UTSW |
11 |
58,814,756 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Btnl10
|
UTSW |
11 |
58,814,754 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Btnl10
|
UTSW |
11 |
58,814,755 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Btnl10
|
UTSW |
11 |
58,814,757 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Btnl10
|
UTSW |
11 |
58,814,755 (GRCm39) |
small insertion |
probably benign |
|
R0420:Btnl10
|
UTSW |
11 |
58,814,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R1875:Btnl10
|
UTSW |
11 |
58,814,586 (GRCm39) |
missense |
probably damaging |
0.97 |
R1908:Btnl10
|
UTSW |
11 |
58,811,367 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3176:Btnl10
|
UTSW |
11 |
58,813,216 (GRCm39) |
missense |
probably benign |
0.00 |
R3177:Btnl10
|
UTSW |
11 |
58,813,216 (GRCm39) |
missense |
probably benign |
0.00 |
R3276:Btnl10
|
UTSW |
11 |
58,813,216 (GRCm39) |
missense |
probably benign |
0.00 |
R3277:Btnl10
|
UTSW |
11 |
58,813,216 (GRCm39) |
missense |
probably benign |
0.00 |
R4600:Btnl10
|
UTSW |
11 |
58,814,426 (GRCm39) |
missense |
probably benign |
0.01 |
R4611:Btnl10
|
UTSW |
11 |
58,811,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R5447:Btnl10
|
UTSW |
11 |
58,813,144 (GRCm39) |
missense |
probably benign |
0.13 |
R5484:Btnl10
|
UTSW |
11 |
58,814,651 (GRCm39) |
missense |
probably damaging |
0.98 |
R5787:Btnl10
|
UTSW |
11 |
58,811,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R5824:Btnl10
|
UTSW |
11 |
58,814,266 (GRCm39) |
missense |
probably benign |
0.05 |
R5859:Btnl10
|
UTSW |
11 |
58,813,138 (GRCm39) |
missense |
probably benign |
0.10 |
R6109:Btnl10
|
UTSW |
11 |
58,811,130 (GRCm39) |
missense |
probably damaging |
0.98 |
R6123:Btnl10
|
UTSW |
11 |
58,811,130 (GRCm39) |
missense |
probably damaging |
0.98 |
R6318:Btnl10
|
UTSW |
11 |
58,817,691 (GRCm39) |
utr 3 prime |
probably benign |
|
R7064:Btnl10
|
UTSW |
11 |
58,810,134 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7083:Btnl10
|
UTSW |
11 |
58,809,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R7152:Btnl10
|
UTSW |
11 |
58,813,223 (GRCm39) |
missense |
probably benign |
|
R7393:Btnl10
|
UTSW |
11 |
58,814,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R7507:Btnl10
|
UTSW |
11 |
58,811,384 (GRCm39) |
missense |
probably benign |
0.05 |
R7893:Btnl10
|
UTSW |
11 |
58,814,635 (GRCm39) |
missense |
probably benign |
0.01 |
R8485:Btnl10
|
UTSW |
11 |
58,811,142 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8529:Btnl10
|
UTSW |
11 |
58,813,238 (GRCm39) |
missense |
probably benign |
0.00 |
R8909:Btnl10
|
UTSW |
11 |
58,813,198 (GRCm39) |
missense |
probably benign |
0.00 |
R9205:Btnl10
|
UTSW |
11 |
58,811,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R9564:Btnl10
|
UTSW |
11 |
58,813,189 (GRCm39) |
missense |
probably benign |
0.13 |
R9565:Btnl10
|
UTSW |
11 |
58,813,189 (GRCm39) |
missense |
probably benign |
0.13 |
R9675:Btnl10
|
UTSW |
11 |
58,814,442 (GRCm39) |
missense |
probably damaging |
1.00 |
RF018:Btnl10
|
UTSW |
11 |
58,814,752 (GRCm39) |
small insertion |
probably benign |
|
RF043:Btnl10
|
UTSW |
11 |
58,814,752 (GRCm39) |
small insertion |
probably benign |
|
X0064:Btnl10
|
UTSW |
11 |
58,814,436 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Btnl10
|
UTSW |
11 |
58,817,650 (GRCm39) |
missense |
unknown |
|
Z1186:Btnl10
|
UTSW |
11 |
58,814,753 (GRCm39) |
small insertion |
probably benign |
|
Z1186:Btnl10
|
UTSW |
11 |
58,810,138 (GRCm39) |
missense |
probably benign |
|
Z1187:Btnl10
|
UTSW |
11 |
58,814,755 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Btnl10
|
UTSW |
11 |
58,814,753 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Btnl10
|
UTSW |
11 |
58,810,138 (GRCm39) |
missense |
probably benign |
|
Z1187:Btnl10
|
UTSW |
11 |
58,817,650 (GRCm39) |
missense |
unknown |
|
Z1188:Btnl10
|
UTSW |
11 |
58,814,753 (GRCm39) |
small insertion |
probably benign |
|
Z1188:Btnl10
|
UTSW |
11 |
58,810,138 (GRCm39) |
missense |
probably benign |
|
Z1188:Btnl10
|
UTSW |
11 |
58,817,650 (GRCm39) |
missense |
unknown |
|
Z1189:Btnl10
|
UTSW |
11 |
58,817,650 (GRCm39) |
missense |
unknown |
|
Z1189:Btnl10
|
UTSW |
11 |
58,814,753 (GRCm39) |
small insertion |
probably benign |
|
Z1189:Btnl10
|
UTSW |
11 |
58,810,138 (GRCm39) |
missense |
probably benign |
|
Z1190:Btnl10
|
UTSW |
11 |
58,817,650 (GRCm39) |
missense |
unknown |
|
Z1190:Btnl10
|
UTSW |
11 |
58,814,753 (GRCm39) |
small insertion |
probably benign |
|
Z1190:Btnl10
|
UTSW |
11 |
58,810,138 (GRCm39) |
missense |
probably benign |
|
Z1191:Btnl10
|
UTSW |
11 |
58,814,755 (GRCm39) |
small insertion |
probably benign |
|
Z1191:Btnl10
|
UTSW |
11 |
58,814,753 (GRCm39) |
small insertion |
probably benign |
|
Z1191:Btnl10
|
UTSW |
11 |
58,810,138 (GRCm39) |
missense |
probably benign |
|
Z1191:Btnl10
|
UTSW |
11 |
58,817,650 (GRCm39) |
missense |
unknown |
|
Z1192:Btnl10
|
UTSW |
11 |
58,814,754 (GRCm39) |
small insertion |
probably benign |
|
Z1192:Btnl10
|
UTSW |
11 |
58,814,753 (GRCm39) |
small insertion |
probably benign |
|
Z1192:Btnl10
|
UTSW |
11 |
58,810,138 (GRCm39) |
missense |
probably benign |
|
Z1192:Btnl10
|
UTSW |
11 |
58,817,650 (GRCm39) |
missense |
unknown |
|
Z1192:Btnl10
|
UTSW |
11 |
58,814,757 (GRCm39) |
small insertion |
probably benign |
|
|
Posted On |
2016-08-02 |