Incidental Mutation 'R5787:Btnl10'
ID |
448096 |
Institutional Source |
Beutler Lab
|
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 # |
R5787 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
58808703-58817791 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58811169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 164
(I164N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020792]
[ENSMUST00000069941]
[ENSMUST00000108818]
[ENSMUST00000142499]
|
AlphaFold |
Q9JK39 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020792
AA Change: I164N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020792 Gene: ENSMUSG00000020490 AA Change: I164N
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 |
probably damaging
Transcript: ENSMUST00000069941
AA Change: I164N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063279 Gene: ENSMUSG00000020490 AA Change: I164N
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 |
probably damaging
Transcript: ENSMUST00000108818
AA Change: I164N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104446 Gene: ENSMUSG00000020490 AA Change: I164N
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 |
probably damaging
Transcript: ENSMUST00000142499
AA Change: I164N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124234 Gene: ENSMUSG00000020490 AA Change: I164N
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adam24 |
A |
G |
8: 41,133,941 (GRCm39) |
N470D |
possibly damaging |
Het |
Adcy8 |
T |
C |
15: 64,576,067 (GRCm39) |
D1027G |
probably damaging |
Het |
Amph |
A |
T |
13: 19,132,624 (GRCm39) |
I8F |
possibly damaging |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
Atp6v0a1 |
A |
G |
11: 100,909,400 (GRCm39) |
D43G |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,046,882 (GRCm39) |
|
probably null |
Het |
Ccdc174 |
C |
T |
6: 91,858,291 (GRCm39) |
Q71* |
probably null |
Het |
Ceacam3 |
G |
A |
7: 16,888,971 (GRCm39) |
E247K |
possibly damaging |
Het |
Chrna2 |
A |
G |
14: 66,386,457 (GRCm39) |
D201G |
probably benign |
Het |
Clasp2 |
G |
A |
9: 113,691,310 (GRCm39) |
D448N |
probably damaging |
Het |
Clcn2 |
C |
A |
16: 20,522,183 (GRCm39) |
R829L |
probably damaging |
Het |
Clock |
A |
G |
5: 76,384,898 (GRCm39) |
S440P |
probably damaging |
Het |
Cntn2 |
T |
C |
1: 132,450,797 (GRCm39) |
D29G |
probably damaging |
Het |
Cpne4 |
A |
G |
9: 104,899,600 (GRCm39) |
T428A |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,260,438 (GRCm39) |
I304V |
probably benign |
Het |
Cyp11a1 |
C |
A |
9: 57,922,550 (GRCm39) |
Q77K |
probably benign |
Het |
Cyp3a25 |
A |
G |
5: 145,935,313 (GRCm39) |
V101A |
probably benign |
Het |
Cyp4f15 |
T |
C |
17: 32,921,782 (GRCm39) |
F485L |
probably damaging |
Het |
Des |
T |
A |
1: 75,340,290 (GRCm39) |
V399E |
probably damaging |
Het |
Dhx58 |
T |
C |
11: 100,592,145 (GRCm39) |
D301G |
possibly damaging |
Het |
Ear6 |
A |
G |
14: 52,091,855 (GRCm39) |
E134G |
probably benign |
Het |
Eif2b3 |
A |
G |
4: 116,901,637 (GRCm39) |
D100G |
probably damaging |
Het |
Erich1 |
T |
C |
8: 14,083,776 (GRCm39) |
|
probably null |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Htr4 |
T |
C |
18: 62,546,693 (GRCm39) |
V82A |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,052,985 (GRCm39) |
D219G |
probably damaging |
Het |
Ifit1 |
T |
A |
19: 34,624,975 (GRCm39) |
V37E |
probably benign |
Het |
Isg20 |
T |
A |
7: 78,569,558 (GRCm39) |
D176E |
probably benign |
Het |
Islr2 |
A |
G |
9: 58,105,637 (GRCm39) |
V585A |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,422,663 (GRCm39) |
E991G |
probably damaging |
Het |
Kcnv1 |
T |
C |
15: 44,977,726 (GRCm39) |
Y104C |
probably damaging |
Het |
Lrtm1 |
G |
C |
14: 28,743,947 (GRCm39) |
E138D |
possibly damaging |
Het |
Mllt3 |
A |
T |
4: 87,759,057 (GRCm39) |
D330E |
probably damaging |
Het |
Mpp7 |
T |
C |
18: 7,461,682 (GRCm39) |
N64D |
probably benign |
Het |
Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
Nop9 |
T |
G |
14: 55,983,791 (GRCm39) |
C141G |
possibly damaging |
Het |
Nos1ap |
T |
C |
1: 170,146,141 (GRCm39) |
E471G |
probably benign |
Het |
Npr2 |
A |
G |
4: 43,633,593 (GRCm39) |
T246A |
possibly damaging |
Het |
Or2t1 |
A |
C |
14: 14,328,725 (GRCm38) |
M205L |
probably damaging |
Het |
Or4a76 |
T |
A |
2: 89,461,018 (GRCm39) |
I75F |
probably benign |
Het |
Or6z1 |
A |
T |
7: 6,504,989 (GRCm39) |
S79T |
probably damaging |
Het |
Pdlim4 |
T |
A |
11: 53,946,042 (GRCm39) |
D271V |
probably damaging |
Het |
Pik3r6 |
T |
C |
11: 68,430,753 (GRCm39) |
V518A |
possibly damaging |
Het |
Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
Rbsn |
C |
T |
6: 92,176,797 (GRCm39) |
V239I |
possibly damaging |
Het |
Rsph14 |
T |
A |
10: 74,793,460 (GRCm39) |
I314F |
possibly damaging |
Het |
S1pr2 |
A |
T |
9: 20,879,232 (GRCm39) |
S199T |
probably benign |
Het |
Scrib |
A |
G |
15: 75,931,151 (GRCm39) |
L902P |
probably damaging |
Het |
Slc25a23 |
T |
C |
17: 57,360,825 (GRCm39) |
T200A |
probably damaging |
Het |
Slc8a1 |
A |
T |
17: 81,696,166 (GRCm39) |
I956N |
probably damaging |
Het |
Spef2 |
A |
G |
15: 9,748,812 (GRCm39) |
V15A |
possibly damaging |
Het |
Stim1 |
T |
A |
7: 102,084,647 (GRCm39) |
V533E |
possibly damaging |
Het |
Tbck |
A |
T |
3: 132,443,329 (GRCm39) |
D585V |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,271,037 (GRCm39) |
L80Q |
probably benign |
Het |
Trim67 |
C |
T |
8: 125,521,051 (GRCm39) |
R138* |
probably null |
Het |
Ttn |
T |
C |
2: 76,580,627 (GRCm39) |
N23422S |
probably damaging |
Het |
Uba6 |
A |
G |
5: 86,260,511 (GRCm39) |
*1023Q |
probably null |
Het |
Vmn1r208 |
T |
C |
13: 22,956,841 (GRCm39) |
N219D |
possibly damaging |
Het |
Vmn1r8 |
T |
A |
6: 57,013,244 (GRCm39) |
S98R |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTCAACCGTTTTATTTGGGATG -3'
(R):5'- TCTGTCACCTTCTCTGGGAG -3'
Sequencing Primer
(F):5'- GGGATGAAGGTATTGCATTAGTAATG -3'
(R):5'- GATGGAGCAAGTCAGGCCC -3'
|
Posted On |
2016-12-15 |