Incidental Mutation 'R5484:Btnl10'
ID |
430322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl10
|
Ensembl Gene |
ENSMUSG00000020490 |
Gene Name |
butyrophilin-like 10 |
Synonyms |
BUTR-1, Butr1 |
MMRRC Submission |
043045-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R5484 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58808703-58817791 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58814651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 444
(V444M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020792]
[ENSMUST00000069941]
[ENSMUST00000108818]
[ENSMUST00000142499]
|
AlphaFold |
Q9JK39 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020792
|
SMART Domains |
Protein: ENSMUSP00000020792 Gene: ENSMUSG00000020490
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: V444M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000063279 Gene: ENSMUSG00000020490 AA Change: V444M
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 benign
Transcript: ENSMUST00000108818
|
SMART Domains |
Protein: ENSMUSP00000104446 Gene: ENSMUSG00000020490
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: V444M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124234 Gene: ENSMUSG00000020490 AA Change: V444M
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 |
0.6467 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
Validation Efficiency |
97% (76/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,313,851 (GRCm39) |
H609R |
probably benign |
Het |
Abca6 |
A |
T |
11: 110,074,899 (GRCm39) |
V1388E |
probably damaging |
Het |
Alx1 |
T |
A |
10: 102,861,177 (GRCm39) |
D117V |
probably damaging |
Het |
Ascl4 |
T |
C |
10: 85,764,401 (GRCm39) |
L16P |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,420,097 (GRCm39) |
|
probably benign |
Het |
Camkv |
A |
T |
9: 107,823,345 (GRCm39) |
N124Y |
probably damaging |
Het |
Catsperb |
T |
C |
12: 101,542,175 (GRCm39) |
L625P |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,612,199 (GRCm39) |
I973V |
probably benign |
Het |
Celsr1 |
T |
C |
15: 85,815,483 (GRCm39) |
D1844G |
probably benign |
Het |
Chd7 |
G |
C |
4: 8,828,258 (GRCm39) |
K1066N |
probably damaging |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,515,827 (GRCm39) |
D409G |
probably benign |
Het |
Cry1 |
T |
C |
10: 84,982,588 (GRCm39) |
|
probably null |
Het |
Cttnbp2 |
T |
A |
6: 18,427,689 (GRCm39) |
|
probably benign |
Het |
Cyrib |
T |
A |
15: 63,815,056 (GRCm39) |
T139S |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,022,531 (GRCm39) |
V1623E |
probably damaging |
Het |
Dnah6 |
G |
T |
6: 73,069,099 (GRCm39) |
D2477E |
possibly damaging |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dop1a |
C |
G |
9: 86,427,341 (GRCm39) |
R2164G |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,368,014 (GRCm39) |
T678A |
possibly damaging |
Het |
Farsb |
A |
C |
1: 78,452,833 (GRCm39) |
I51S |
probably damaging |
Het |
Gm10220 |
T |
A |
5: 26,322,930 (GRCm39) |
I161L |
possibly damaging |
Het |
Gm10782 |
G |
T |
13: 56,510,987 (GRCm39) |
|
noncoding transcript |
Het |
Gm12830 |
A |
T |
4: 114,702,248 (GRCm39) |
T137S |
unknown |
Het |
Gopc |
A |
G |
10: 52,234,942 (GRCm39) |
L67P |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,551,291 (GRCm39) |
I2655V |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,283,066 (GRCm39) |
Q1981* |
probably null |
Het |
Ifi209 |
T |
A |
1: 173,468,640 (GRCm39) |
S157T |
probably benign |
Het |
Ift56 |
T |
G |
6: 38,366,057 (GRCm39) |
C124W |
probably benign |
Het |
Iqcf1 |
A |
T |
9: 106,379,107 (GRCm39) |
I74F |
probably damaging |
Het |
Irf3 |
A |
T |
7: 44,649,382 (GRCm39) |
R78W |
probably damaging |
Het |
Kank4 |
T |
C |
4: 98,663,022 (GRCm39) |
D722G |
probably benign |
Het |
Loxl1 |
A |
G |
9: 58,198,065 (GRCm39) |
V597A |
possibly damaging |
Het |
Marveld1 |
T |
C |
19: 42,136,272 (GRCm39) |
L62P |
probably damaging |
Het |
Mga |
T |
G |
2: 119,747,107 (GRCm39) |
D419E |
possibly damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,938,463 (GRCm39) |
K251E |
possibly damaging |
Het |
Myh4 |
A |
G |
11: 67,142,644 (GRCm39) |
E935G |
probably damaging |
Het |
Nat8f2 |
C |
A |
6: 85,844,994 (GRCm39) |
A123S |
possibly damaging |
Het |
Niban1 |
A |
G |
1: 151,593,837 (GRCm39) |
T841A |
probably benign |
Het |
Or4d11 |
G |
A |
19: 12,013,192 (GRCm39) |
L305F |
probably benign |
Het |
Pcdha9 |
T |
A |
18: 37,131,156 (GRCm39) |
V75E |
probably damaging |
Het |
Pebp4 |
A |
T |
14: 70,200,991 (GRCm39) |
|
probably null |
Het |
Pitx1 |
A |
G |
13: 55,974,166 (GRCm39) |
S222P |
probably benign |
Het |
Plekhg3 |
G |
A |
12: 76,625,174 (GRCm39) |
V1339M |
possibly damaging |
Het |
Plekhs1 |
C |
T |
19: 56,468,260 (GRCm39) |
S276L |
possibly damaging |
Het |
Plin4 |
T |
C |
17: 56,411,932 (GRCm39) |
T700A |
possibly damaging |
Het |
Plxnb2 |
T |
C |
15: 89,048,412 (GRCm39) |
|
probably null |
Het |
Pms2 |
T |
C |
5: 143,864,943 (GRCm39) |
I675T |
probably damaging |
Het |
Polrmt |
A |
G |
10: 79,577,888 (GRCm39) |
L268P |
probably damaging |
Het |
Rtp1 |
A |
G |
16: 23,248,025 (GRCm39) |
T33A |
probably benign |
Het |
Safb2 |
T |
C |
17: 56,882,346 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
C |
A |
5: 142,085,941 (GRCm39) |
P1383Q |
probably damaging |
Het |
Setdb1 |
A |
T |
3: 95,244,569 (GRCm39) |
C758S |
probably damaging |
Het |
Sh3gl2 |
T |
C |
4: 85,317,160 (GRCm39) |
|
probably benign |
Het |
Slc13a2 |
G |
A |
11: 78,295,648 (GRCm39) |
|
probably benign |
Het |
Slc35b1 |
T |
C |
11: 95,278,631 (GRCm39) |
Y126H |
probably damaging |
Het |
Strip2 |
C |
A |
6: 29,917,154 (GRCm39) |
|
probably benign |
Het |
Tbx4 |
A |
G |
11: 85,805,230 (GRCm39) |
T440A |
probably damaging |
Het |
Tcf7l2 |
C |
A |
19: 55,907,940 (GRCm39) |
|
probably null |
Het |
Tgfb1 |
A |
C |
7: 25,387,574 (GRCm39) |
D94A |
probably benign |
Het |
Tmem132b |
T |
C |
5: 125,864,797 (GRCm39) |
C968R |
probably damaging |
Het |
Tmem176b |
T |
A |
6: 48,811,467 (GRCm39) |
M61L |
probably benign |
Het |
Tmem258 |
A |
G |
19: 10,184,689 (GRCm39) |
|
probably null |
Het |
Tpr |
T |
C |
1: 150,302,639 (GRCm39) |
L1379S |
probably benign |
Het |
Vmn2r44 |
T |
C |
7: 8,383,123 (GRCm39) |
D157G |
possibly damaging |
Het |
Wfdc8 |
T |
C |
2: 164,439,649 (GRCm39) |
I244M |
probably benign |
Het |
Zfp341 |
T |
C |
2: 154,466,921 (GRCm39) |
S97P |
probably benign |
Het |
Zfp655 |
T |
C |
5: 145,180,445 (GRCm39) |
V101A |
probably benign |
Het |
Zfp788 |
T |
C |
7: 41,299,277 (GRCm39) |
S586P |
probably damaging |
Het |
Zfp874b |
C |
T |
13: 67,629,373 (GRCm39) |
V52I |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGAGGCAGGGAGACATTACTG -3'
(R):5'- AAGGCAGGAGCTTTCCTCTC -3'
Sequencing Primer
(F):5'- GGAAGGATCCCCAAGTCAC -3'
(R):5'- AAGGCAGGAGCTTTCCTCTCTTAAG -3'
|
Posted On |
2016-10-05 |