Incidental Mutation 'R8485:Btnl10'
ID |
657690 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl10
|
Ensembl Gene |
ENSMUSG00000020490 |
Gene Name |
butyrophilin-like 10 |
Synonyms |
BUTR-1, Butr1 |
MMRRC Submission |
067928-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R8485 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58808703-58817791 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 58811142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 155
(R155L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104446
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020792]
[ENSMUST00000069941]
[ENSMUST00000108818]
[ENSMUST00000142499]
|
AlphaFold |
Q9JK39 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020792
AA Change: R155L
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000020792 Gene: ENSMUSG00000020490 AA Change: R155L
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: R155L
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000063279 Gene: ENSMUSG00000020490 AA Change: R155L
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: R155L
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104446 Gene: ENSMUSG00000020490 AA Change: R155L
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: R155L
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000124234 Gene: ENSMUSG00000020490 AA Change: R155L
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 |
|
Meta Mutation Damage Score |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp6 |
A |
G |
3: 97,066,302 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,886,794 (GRCm39) |
T999A |
possibly damaging |
Het |
Adgrb1 |
A |
C |
15: 74,420,153 (GRCm39) |
T829P |
probably damaging |
Het |
Ankrd12 |
C |
T |
17: 66,290,711 (GRCm39) |
S1574N |
probably benign |
Het |
Ankrd2 |
G |
A |
19: 42,030,384 (GRCm39) |
|
probably null |
Het |
Ano3 |
T |
A |
2: 110,498,200 (GRCm39) |
|
probably null |
Het |
Arhgap18 |
T |
C |
10: 26,722,104 (GRCm39) |
I25T |
probably benign |
Het |
Armc3 |
T |
C |
2: 19,297,945 (GRCm39) |
F572S |
probably damaging |
Het |
Aspdh |
G |
T |
7: 44,117,093 (GRCm39) |
G165W |
probably damaging |
Het |
Cacng7 |
A |
G |
7: 3,414,541 (GRCm39) |
E168G |
probably benign |
Het |
Cadps |
G |
A |
14: 12,439,872 (GRCm38) |
T1215M |
probably damaging |
Het |
Cbfa2t3 |
C |
A |
8: 123,357,517 (GRCm39) |
G598C |
probably damaging |
Het |
Cdh15 |
T |
C |
8: 123,584,105 (GRCm39) |
S69P |
probably damaging |
Het |
Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
Dlec1 |
T |
G |
9: 118,957,659 (GRCm39) |
V881G |
probably benign |
Het |
Dnah7c |
A |
C |
1: 46,719,952 (GRCm39) |
D2801A |
probably benign |
Het |
Efhc1 |
T |
C |
1: 21,030,460 (GRCm39) |
M131T |
possibly damaging |
Het |
Ercc2 |
G |
A |
7: 19,122,165 (GRCm39) |
V386I |
possibly damaging |
Het |
Exoc4 |
T |
A |
6: 33,898,436 (GRCm39) |
I885N |
probably damaging |
Het |
Fbxl22 |
C |
T |
9: 66,421,849 (GRCm39) |
|
probably null |
Het |
Flii |
G |
T |
11: 60,607,063 (GRCm39) |
A971E |
probably benign |
Het |
Fnip2 |
T |
A |
3: 79,388,844 (GRCm39) |
E599V |
probably benign |
Het |
Glb1l2 |
G |
A |
9: 26,679,036 (GRCm39) |
L453F |
probably benign |
Het |
Gm49368 |
C |
T |
7: 127,711,611 (GRCm39) |
P624L |
probably damaging |
Het |
Gpa33 |
T |
A |
1: 165,992,261 (GRCm39) |
D268E |
probably benign |
Het |
Gpi1 |
A |
T |
7: 33,918,677 (GRCm39) |
|
probably null |
Het |
Iqgap2 |
T |
C |
13: 95,796,659 (GRCm39) |
N1165S |
probably damaging |
Het |
Irag2 |
A |
T |
6: 145,117,400 (GRCm39) |
N379I |
probably damaging |
Het |
Kctd2 |
G |
T |
11: 115,320,434 (GRCm39) |
|
probably benign |
Het |
L1td1 |
C |
T |
4: 98,625,911 (GRCm39) |
A702V |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
Mycbpap |
A |
G |
11: 94,402,534 (GRCm39) |
L267P |
probably damaging |
Het |
Mycbpap |
T |
C |
11: 94,405,359 (GRCm39) |
R57G |
probably benign |
Het |
Myo1b |
A |
C |
1: 51,818,760 (GRCm39) |
L505R |
probably damaging |
Het |
Nfatc2 |
A |
C |
2: 168,432,012 (GRCm39) |
F34V |
probably damaging |
Het |
Nphs1 |
A |
G |
7: 30,165,598 (GRCm39) |
N655S |
probably damaging |
Het |
Nsd2 |
A |
T |
5: 34,040,189 (GRCm39) |
I909F |
probably damaging |
Het |
Or10ag60 |
A |
T |
2: 87,438,601 (GRCm39) |
M290L |
probably benign |
Het |
Or8b37 |
T |
A |
9: 37,959,253 (GRCm39) |
M245K |
probably benign |
Het |
Pak2 |
G |
A |
16: 31,871,083 (GRCm39) |
A33V |
probably benign |
Het |
Phb1 |
A |
G |
11: 95,566,055 (GRCm39) |
D113G |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,593,257 (GRCm39) |
I1619F |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,423,796 (GRCm39) |
I3113V |
probably damaging |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Prrc2b |
T |
A |
2: 32,102,105 (GRCm39) |
M726K |
possibly damaging |
Het |
Rai14 |
A |
G |
15: 10,575,122 (GRCm39) |
L612P |
probably damaging |
Het |
Rapgef1 |
T |
C |
2: 29,600,186 (GRCm39) |
S598P |
probably damaging |
Het |
Rdm1 |
G |
A |
11: 101,518,816 (GRCm39) |
V8I |
probably benign |
Het |
Rrbp1 |
A |
G |
2: 143,796,933 (GRCm39) |
F1148L |
probably benign |
Het |
Slc12a2 |
T |
C |
18: 58,074,218 (GRCm39) |
|
probably null |
Het |
Slc7a8 |
T |
A |
14: 54,962,264 (GRCm39) |
T457S |
probably benign |
Het |
Stk32a |
T |
A |
18: 43,376,075 (GRCm39) |
M48K |
possibly damaging |
Het |
Svil |
T |
C |
18: 5,064,566 (GRCm39) |
S642P |
probably benign |
Het |
Taok3 |
G |
A |
5: 117,389,142 (GRCm39) |
V516M |
possibly damaging |
Het |
Ugdh |
T |
C |
5: 65,584,902 (GRCm39) |
I7V |
possibly damaging |
Het |
Zc3h11a |
T |
A |
1: 133,553,633 (GRCm39) |
S504C |
possibly damaging |
Het |
Zfp512 |
C |
T |
5: 31,637,401 (GRCm39) |
R497W |
probably damaging |
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 |
IGL03368:Btnl10
|
APN |
11 |
58,810,212 (GRCm39) |
missense |
possibly damaging |
0.61 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCAACCGTTTTATTTGGGATGAAGG -3'
(R):5'- TCTGTCACCTTCTCTGGGAG -3'
Sequencing Primer
(F):5'- GGGATGAAGGTATTGCATTAGTAATG -3'
(R):5'- CGTATCCTGGGGAGTCACAATG -3'
|
Posted On |
2021-01-18 |