Incidental Mutation 'R7083:Btnl10'
ID |
549694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl10
|
Ensembl Gene |
ENSMUSG00000020490 |
Gene Name |
butyrophilin-like 10 |
Synonyms |
BUTR-1, Butr1 |
MMRRC Submission |
045177-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R7083 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
58808703-58817791 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 58809963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 35
(V35F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020792]
[ENSMUST00000069941]
[ENSMUST00000108818]
[ENSMUST00000142499]
|
AlphaFold |
Q9JK39 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020792
AA Change: V35F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020792 Gene: ENSMUSG00000020490 AA Change: V35F
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: V35F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063279 Gene: ENSMUSG00000020490 AA Change: V35F
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: V35F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104446 Gene: ENSMUSG00000020490 AA Change: V35F
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: V35F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124234 Gene: ENSMUSG00000020490 AA Change: V35F
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
A |
T |
12: 81,607,015 (GRCm39) |
M249K |
possibly damaging |
Het |
Arhgef38 |
T |
A |
3: 132,838,197 (GRCm39) |
Q613L |
unknown |
Het |
Arpp21 |
A |
G |
9: 112,012,612 (GRCm39) |
V70A |
probably benign |
Het |
AW551984 |
T |
C |
9: 39,508,943 (GRCm39) |
N327S |
probably damaging |
Het |
Bnc1 |
T |
C |
7: 81,623,058 (GRCm39) |
K723R |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,754,594 (GRCm39) |
L724P |
probably damaging |
Het |
Cd22 |
T |
A |
7: 30,567,473 (GRCm39) |
T704S |
probably damaging |
Het |
Cd4 |
T |
G |
6: 124,847,535 (GRCm39) |
S210R |
probably benign |
Het |
Cped1 |
A |
G |
6: 22,123,579 (GRCm39) |
Q444R |
probably benign |
Het |
Dusp26 |
A |
G |
8: 31,581,747 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
C |
T |
6: 5,969,429 (GRCm39) |
A418V |
probably damaging |
Het |
Fibp |
A |
G |
19: 5,513,659 (GRCm39) |
D232G |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,444,914 (GRCm39) |
T2406S |
probably damaging |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gpr39 |
T |
A |
1: 125,605,155 (GRCm39) |
W28R |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,773,315 (GRCm39) |
V253A |
probably benign |
Het |
Hexim1 |
T |
G |
11: 103,007,992 (GRCm39) |
L82W |
possibly damaging |
Het |
Hmga1 |
G |
T |
17: 27,779,945 (GRCm39) |
R49L |
possibly damaging |
Het |
Irag2 |
A |
T |
6: 145,115,509 (GRCm39) |
N349I |
probably damaging |
Het |
Itch |
A |
T |
2: 155,052,364 (GRCm39) |
N655Y |
probably damaging |
Het |
Izumo2 |
A |
G |
7: 44,359,757 (GRCm39) |
E129G |
probably damaging |
Het |
Klk1b24 |
G |
A |
7: 43,841,225 (GRCm39) |
C186Y |
probably damaging |
Het |
Lnx1 |
G |
A |
5: 74,788,846 (GRCm39) |
S31F |
possibly damaging |
Het |
Lrrc37a |
T |
C |
11: 103,394,166 (GRCm39) |
I420V |
probably benign |
Het |
Ltk |
A |
C |
2: 119,582,555 (GRCm39) |
C776G |
probably damaging |
Het |
Mast4 |
A |
C |
13: 102,874,223 (GRCm39) |
L1715R |
probably damaging |
Het |
Med28 |
T |
C |
5: 45,680,878 (GRCm39) |
|
probably null |
Het |
Naf1 |
GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,138 (GRCm39) |
|
probably benign |
Het |
Nckap1l |
C |
A |
15: 103,390,551 (GRCm39) |
T774K |
probably damaging |
Het |
Nfkbiz |
T |
C |
16: 55,638,663 (GRCm39) |
K266E |
possibly damaging |
Het |
Ntrk3 |
T |
A |
7: 77,900,587 (GRCm39) |
D584V |
probably damaging |
Het |
Or1o1 |
T |
C |
17: 37,717,063 (GRCm39) |
V208A |
probably benign |
Het |
Or2h15 |
T |
A |
17: 38,441,601 (GRCm39) |
T161S |
probably benign |
Het |
Or4c126 |
A |
G |
2: 89,824,201 (GRCm39) |
I155V |
probably benign |
Het |
Or4n4b |
G |
A |
14: 50,536,736 (GRCm39) |
T10I |
possibly damaging |
Het |
Or5h25 |
T |
C |
16: 58,930,400 (GRCm39) |
D191G |
probably damaging |
Het |
Picalm |
T |
A |
7: 89,825,976 (GRCm39) |
I376K |
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Prps1l3 |
A |
T |
12: 57,286,034 (GRCm39) |
I275L |
probably benign |
Het |
Psg26 |
G |
A |
7: 18,213,934 (GRCm39) |
R243* |
probably null |
Het |
Ranbp2 |
A |
G |
10: 58,315,052 (GRCm39) |
H1924R |
probably damaging |
Het |
Rasef |
T |
C |
4: 73,709,221 (GRCm39) |
D4G |
probably benign |
Het |
Rttn |
T |
C |
18: 89,108,722 (GRCm39) |
L1642P |
probably damaging |
Het |
Shroom3 |
T |
C |
5: 93,112,384 (GRCm39) |
L1915P |
probably damaging |
Het |
Slc26a10 |
A |
G |
10: 127,013,037 (GRCm39) |
V319A |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,064,839 (GRCm39) |
N231S |
probably benign |
Het |
Sox18 |
T |
C |
2: 181,312,165 (GRCm39) |
Q322R |
possibly damaging |
Het |
Sting1 |
T |
C |
18: 35,867,703 (GRCm39) |
H331R |
probably damaging |
Het |
Syde1 |
G |
T |
10: 78,422,903 (GRCm39) |
P490T |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,990,662 (GRCm39) |
I1881M |
probably damaging |
Het |
Taf1c |
T |
C |
8: 120,327,407 (GRCm39) |
D387G |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,544,556 (GRCm39) |
Y2228N |
probably damaging |
Het |
Tubgcp5 |
C |
T |
7: 55,450,443 (GRCm39) |
Q185* |
probably null |
Het |
Vmn2r44 |
T |
A |
7: 8,381,369 (GRCm39) |
I175F |
probably benign |
Het |
Zdhhc7 |
C |
A |
8: 120,812,166 (GRCm39) |
C152F |
probably damaging |
Het |
Zfp52 |
T |
A |
17: 21,780,392 (GRCm39) |
M80K |
possibly damaging |
Het |
Zfp612 |
T |
C |
8: 110,815,768 (GRCm39) |
I325T |
probably damaging |
Het |
Zmiz1 |
T |
G |
14: 25,652,372 (GRCm39) |
F597V |
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 |
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'- ACTTCTGGGAACGGTAGGAC -3'
(R):5'- TGCCGTTGAATGAGGTCCTTC -3'
Sequencing Primer
(F):5'- AACGGTAGGACGCCCCTC -3'
(R):5'- GAATGAGGTCCTTCCCTTATATTCC -3'
|
Posted On |
2019-05-15 |