Incidental Mutation 'R3276:Btnl10'
| ID |
258228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btnl10
|
| Ensembl Gene |
ENSMUSG00000020490 |
| Gene Name |
butyrophilin-like 10 |
| Synonyms |
Butr1, BUTR-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R3276 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58917908-58927158 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58922390 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 282
(K282E)
|
| 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 benign
Transcript: ENSMUST00000069941
AA Change: K282E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000063279
Gene: ENSMUSG00000020490
AA Change: K282E
| 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 benign
Transcript: ENSMUST00000142499
AA Change: K282E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000124234
Gene: ENSMUSG00000020490
AA Change: K282E
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
C |
T |
8: 86,506,866 (GRCm38) |
R1269H |
probably damaging |
Het |
| Ace |
A |
G |
11: 105,976,702 (GRCm38) |
E164G |
probably null |
Het |
| Als2 |
A |
T |
1: 59,170,008 (GRCm38) |
V1464E |
possibly damaging |
Het |
| Atox1 |
A |
G |
11: 55,450,553 (GRCm38) |
L52P |
possibly damaging |
Het |
| Cdkn3 |
T |
C |
14: 46,771,477 (GRCm38) |
|
probably benign |
Het |
| Col16a1 |
A |
G |
4: 130,057,999 (GRCm38) |
K72E |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,911,107 (GRCm38) |
R1565* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,786,230 (GRCm38) |
H36R |
probably benign |
Het |
| Cyp4b1 |
T |
C |
4: 115,625,850 (GRCm38) |
N415D |
possibly damaging |
Het |
| Dennd4a |
G |
T |
9: 64,888,993 (GRCm38) |
R767L |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,561,239 (GRCm38) |
F25L |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,923,940 (GRCm38) |
T219A |
probably benign |
Het |
| Dhx58 |
A |
G |
11: 100,696,979 (GRCm38) |
F584S |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 131,088,071 (GRCm38) |
T715A |
probably benign |
Het |
| Eogt |
T |
A |
6: 97,131,394 (GRCm38) |
I229F |
probably benign |
Het |
| Ern2 |
T |
C |
7: 122,180,964 (GRCm38) |
T164A |
possibly damaging |
Het |
| Fam133b |
A |
T |
5: 3,558,522 (GRCm38) |
N84I |
probably damaging |
Het |
| Fbxl21 |
T |
A |
13: 56,537,122 (GRCm38) |
Y346* |
probably null |
Het |
| Fcgbp |
C |
A |
7: 28,091,661 (GRCm38) |
H782Q |
probably damaging |
Het |
| Gm11492 |
T |
C |
11: 87,567,244 (GRCm38) |
V148A |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 41,288,380 (GRCm38) |
E362G |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,201,998 (GRCm38) |
|
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,244,315 (GRCm38) |
T91A |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,695,681 (GRCm38) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,695,680 (GRCm38) |
M1L |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 128,190,981 (GRCm38) |
H651N |
possibly damaging |
Het |
| Itgav |
A |
G |
2: 83,776,542 (GRCm38) |
D409G |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,609,639 (GRCm38) |
N1119S |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,682,063 (GRCm38) |
I207V |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Lhfpl5 |
T |
C |
17: 28,579,946 (GRCm38) |
I143T |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 66,305,521 (GRCm38) |
K431E |
possibly damaging |
Het |
| Mag |
C |
T |
7: 30,901,648 (GRCm38) |
|
probably null |
Het |
| Maml3 |
A |
T |
3: 51,856,930 (GRCm38) |
N204K |
possibly damaging |
Het |
| Mrpl19 |
T |
C |
6: 81,964,066 (GRCm38) |
S115G |
probably damaging |
Het |
| Mthfd1l |
G |
C |
10: 4,148,025 (GRCm38) |
G954A |
probably damaging |
Het |
| Mut |
A |
G |
17: 40,958,872 (GRCm38) |
|
probably null |
Het |
| Myo19 |
A |
G |
11: 84,892,175 (GRCm38) |
I172V |
probably benign |
Het |
| Naca |
T |
C |
10: 128,040,661 (GRCm38) |
|
probably benign |
Het |
| Nfatc2 |
T |
C |
2: 168,506,994 (GRCm38) |
N638D |
possibly damaging |
Het |
| Nsun6 |
A |
G |
2: 15,009,404 (GRCm38) |
|
probably benign |
Het |
| Olfr1412 |
A |
G |
1: 92,588,813 (GRCm38) |
N161S |
probably benign |
Het |
| Olfr584 |
C |
A |
7: 103,085,750 (GRCm38) |
D72E |
probably damaging |
Het |
| Olfr913 |
T |
A |
9: 38,594,643 (GRCm38) |
C141S |
probably damaging |
Het |
| Padi6 |
A |
G |
4: 140,735,389 (GRCm38) |
L307P |
probably damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,690,232 (GRCm38) |
S57F |
probably damaging |
Het |
| Prcd |
A |
G |
11: 116,659,811 (GRCm38) |
E103G |
possibly damaging |
Het |
| Prkx |
A |
T |
X: 77,771,275 (GRCm38) |
F260I |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,753,943 (GRCm38) |
|
probably null |
Het |
| Ranbp1 |
T |
C |
16: 18,247,429 (GRCm38) |
|
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,249,366 (GRCm38) |
M1003K |
probably benign |
Het |
| Scap |
A |
T |
9: 110,374,025 (GRCm38) |
M256L |
probably benign |
Het |
| Sema4c |
C |
T |
1: 36,549,879 (GRCm38) |
R722H |
possibly damaging |
Het |
| Sgk1 |
C |
T |
10: 21,996,601 (GRCm38) |
R171W |
probably damaging |
Het |
| Spata7 |
A |
G |
12: 98,637,598 (GRCm38) |
N75D |
possibly damaging |
Het |
| Tmem120b |
T |
A |
5: 123,114,104 (GRCm38) |
I146N |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,547,232 (GRCm38) |
F99L |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 59,276,519 (GRCm38) |
C348* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,421,855 (GRCm38) |
D1777E |
probably benign |
Het |
| Unc79 |
C |
A |
12: 103,113,217 (GRCm38) |
D1880E |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,276,759 (GRCm38) |
|
probably null |
Het |
| Zswim9 |
T |
C |
7: 13,277,270 (GRCm38) |
T51A |
possibly damaging |
Het |
|
| Other mutations in Btnl10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02033:Btnl10
|
APN |
11 |
58,919,315 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03368:Btnl10
|
APN |
11 |
58,919,386 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
FR4304:Btnl10
|
UTSW |
11 |
58,923,930 (GRCm38) |
small insertion |
probably benign |
|
|
FR4449:Btnl10
|
UTSW |
11 |
58,923,928 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:Btnl10
|
UTSW |
11 |
58,923,929 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Btnl10
|
UTSW |
11 |
58,923,931 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Btnl10
|
UTSW |
11 |
58,923,929 (GRCm38) |
small insertion |
probably benign |
|
|
R0420:Btnl10
|
UTSW |
11 |
58,923,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1875:Btnl10
|
UTSW |
11 |
58,923,760 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1908:Btnl10
|
UTSW |
11 |
58,920,541 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3176:Btnl10
|
UTSW |
11 |
58,922,390 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3177:Btnl10
|
UTSW |
11 |
58,922,390 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3277:Btnl10
|
UTSW |
11 |
58,922,390 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4600:Btnl10
|
UTSW |
11 |
58,923,600 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4611:Btnl10
|
UTSW |
11 |
58,920,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5447:Btnl10
|
UTSW |
11 |
58,922,318 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5484:Btnl10
|
UTSW |
11 |
58,923,825 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5787:Btnl10
|
UTSW |
11 |
58,920,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5824:Btnl10
|
UTSW |
11 |
58,923,440 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5859:Btnl10
|
UTSW |
11 |
58,922,312 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6109:Btnl10
|
UTSW |
11 |
58,920,304 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6123:Btnl10
|
UTSW |
11 |
58,920,304 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6318:Btnl10
|
UTSW |
11 |
58,926,865 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R7064:Btnl10
|
UTSW |
11 |
58,919,308 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R7083:Btnl10
|
UTSW |
11 |
58,919,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7152:Btnl10
|
UTSW |
11 |
58,922,397 (GRCm38) |
missense |
probably benign |
|
|
R7393:Btnl10
|
UTSW |
11 |
58,923,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7507:Btnl10
|
UTSW |
11 |
58,920,558 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7893:Btnl10
|
UTSW |
11 |
58,923,809 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8485:Btnl10
|
UTSW |
11 |
58,920,316 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8529:Btnl10
|
UTSW |
11 |
58,922,412 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8909:Btnl10
|
UTSW |
11 |
58,922,372 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9205:Btnl10
|
UTSW |
11 |
58,920,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9564:Btnl10
|
UTSW |
11 |
58,922,363 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9565:Btnl10
|
UTSW |
11 |
58,922,363 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9675:Btnl10
|
UTSW |
11 |
58,923,616 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF018:Btnl10
|
UTSW |
11 |
58,923,926 (GRCm38) |
small insertion |
probably benign |
|
|
RF043:Btnl10
|
UTSW |
11 |
58,923,926 (GRCm38) |
small insertion |
probably benign |
|
|
X0064:Btnl10
|
UTSW |
11 |
58,923,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1186:Btnl10
|
UTSW |
11 |
58,926,824 (GRCm38) |
missense |
unknown |
|
|
Z1186:Btnl10
|
UTSW |
11 |
58,923,927 (GRCm38) |
small insertion |
probably benign |
|
|
Z1186:Btnl10
|
UTSW |
11 |
58,919,312 (GRCm38) |
missense |
probably benign |
|
|
Z1187:Btnl10
|
UTSW |
11 |
58,923,929 (GRCm38) |
small insertion |
probably benign |
|
|
Z1187:Btnl10
|
UTSW |
11 |
58,923,927 (GRCm38) |
small insertion |
probably benign |
|
|
Z1187:Btnl10
|
UTSW |
11 |
58,919,312 (GRCm38) |
missense |
probably benign |
|
|
Z1187:Btnl10
|
UTSW |
11 |
58,926,824 (GRCm38) |
missense |
unknown |
|
|
Z1188:Btnl10
|
UTSW |
11 |
58,923,927 (GRCm38) |
small insertion |
probably benign |
|
|
Z1188:Btnl10
|
UTSW |
11 |
58,919,312 (GRCm38) |
missense |
probably benign |
|
|
Z1188:Btnl10
|
UTSW |
11 |
58,926,824 (GRCm38) |
missense |
unknown |
|
|
Z1189:Btnl10
|
UTSW |
11 |
58,926,824 (GRCm38) |
missense |
unknown |
|
|
Z1189:Btnl10
|
UTSW |
11 |
58,923,927 (GRCm38) |
small insertion |
probably benign |
|
|
Z1189:Btnl10
|
UTSW |
11 |
58,919,312 (GRCm38) |
missense |
probably benign |
|
|
Z1190:Btnl10
|
UTSW |
11 |
58,926,824 (GRCm38) |
missense |
unknown |
|
|
Z1190:Btnl10
|
UTSW |
11 |
58,923,927 (GRCm38) |
small insertion |
probably benign |
|
|
Z1190:Btnl10
|
UTSW |
11 |
58,919,312 (GRCm38) |
missense |
probably benign |
|
|
Z1191:Btnl10
|
UTSW |
11 |
58,923,929 (GRCm38) |
small insertion |
probably benign |
|
|
Z1191:Btnl10
|
UTSW |
11 |
58,923,927 (GRCm38) |
small insertion |
probably benign |
|
|
Z1191:Btnl10
|
UTSW |
11 |
58,919,312 (GRCm38) |
missense |
probably benign |
|
|
Z1191:Btnl10
|
UTSW |
11 |
58,926,824 (GRCm38) |
missense |
unknown |
|
|
Z1192:Btnl10
|
UTSW |
11 |
58,923,928 (GRCm38) |
small insertion |
probably benign |
|
|
Z1192:Btnl10
|
UTSW |
11 |
58,923,927 (GRCm38) |
small insertion |
probably benign |
|
|
Z1192:Btnl10
|
UTSW |
11 |
58,919,312 (GRCm38) |
missense |
probably benign |
|
|
Z1192:Btnl10
|
UTSW |
11 |
58,926,824 (GRCm38) |
missense |
unknown |
|
|
Z1192:Btnl10
|
UTSW |
11 |
58,923,931 (GRCm38) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGTACGAGTGTCTAACAAAG -3'
(R):5'- TTGACCAAGGACTCTCTCGG -3'
Sequencing Primer
(F):5'- GTCTAACAAAGACGATCCCCTCCTG -3'
(R):5'- CAAGGACTCTCTCGGTGGTGAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation