Incidental Mutation 'R8909:Btnl10'
| ID |
678516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btnl10
|
| Ensembl Gene |
ENSMUSG00000020490 |
| Gene Name |
butyrophilin-like 10 |
| Synonyms |
BUTR-1, Butr1 |
| MMRRC Submission |
068700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8909 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58808703-58817791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58813198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 276
(C276R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063279
(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: C276R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000063279
Gene: ENSMUSG00000020490
AA Change: C276R
| 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: C276R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124234
Gene: ENSMUSG00000020490
AA Change: C276R
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aopep |
G |
T |
13: 63,388,111 (GRCm39) |
R698L |
possibly damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Cavin4 |
G |
A |
4: 48,672,421 (GRCm39) |
G289R |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,848,610 (GRCm39) |
F430S |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,014,086 (GRCm39) |
I1246T |
possibly damaging |
Het |
| Chd8 |
C |
T |
14: 52,450,389 (GRCm39) |
V1490M |
possibly damaging |
Het |
| Clec2g |
A |
G |
6: 128,958,195 (GRCm39) |
N137S |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,825,093 (GRCm39) |
S878T |
probably benign |
Het |
| Cryga |
G |
T |
1: 65,142,173 (GRCm39) |
S73R |
probably benign |
Het |
| Dach1 |
T |
C |
14: 98,406,120 (GRCm39) |
D209G |
probably damaging |
Het |
| Dnai4 |
T |
G |
4: 102,944,607 (GRCm39) |
E248A |
possibly damaging |
Het |
| Duox2 |
A |
G |
2: 122,126,862 (GRCm39) |
S218P |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,192,508 (GRCm39) |
Q1491L |
possibly damaging |
Het |
| Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
| Glra3 |
A |
T |
8: 56,444,159 (GRCm39) |
|
probably null |
Het |
| Helz |
A |
G |
11: 107,556,834 (GRCm39) |
D1284G |
possibly damaging |
Het |
| Iqsec3 |
G |
A |
6: 121,390,118 (GRCm39) |
A451V |
unknown |
Het |
| Kat6b |
A |
G |
14: 21,719,214 (GRCm39) |
T1189A |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,079,736 (GRCm39) |
F1203Y |
|
Het |
| Lingo2 |
A |
G |
4: 35,708,349 (GRCm39) |
S544P |
probably damaging |
Het |
| Llcfc1 |
T |
C |
6: 41,661,525 (GRCm39) |
V25A |
probably benign |
Het |
| Map1a |
A |
C |
2: 121,129,391 (GRCm39) |
H143P |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,169,233 (GRCm39) |
V1468A |
probably benign |
Het |
| Meis3 |
T |
A |
7: 15,919,385 (GRCm39) |
M367K |
possibly damaging |
Het |
| Myo3b |
G |
A |
2: 70,083,440 (GRCm39) |
A698T |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,970,833 (GRCm39) |
D272V |
probably damaging |
Het |
| Or51a43 |
A |
G |
7: 103,718,032 (GRCm39) |
S69P |
probably damaging |
Het |
| Or56a5 |
C |
T |
7: 104,793,249 (GRCm39) |
V84I |
probably benign |
Het |
| Or7g20 |
G |
T |
9: 18,946,888 (GRCm39) |
M156I |
probably benign |
Het |
| Or8k27 |
C |
T |
2: 86,276,082 (GRCm39) |
M81I |
possibly damaging |
Het |
| Os9 |
C |
A |
10: 126,956,825 (GRCm39) |
|
probably null |
Het |
| Pard3b |
A |
G |
1: 62,383,294 (GRCm39) |
D796G |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkp4 |
A |
G |
2: 59,184,758 (GRCm39) |
E1180G |
possibly damaging |
Het |
| Plod1 |
T |
A |
4: 148,011,563 (GRCm39) |
K221* |
probably null |
Het |
| Ppp6r3 |
T |
C |
19: 3,509,461 (GRCm39) |
T795A |
probably benign |
Het |
| Pramel15 |
T |
C |
4: 144,103,553 (GRCm39) |
Q191R |
probably benign |
Het |
| Prokr2 |
T |
C |
2: 132,215,723 (GRCm39) |
E246G |
probably damaging |
Het |
| Psmb7 |
A |
G |
2: 38,503,481 (GRCm39) |
M178T |
probably damaging |
Het |
| Rbm39 |
C |
T |
2: 156,019,697 (GRCm39) |
|
probably benign |
Het |
| Saa1 |
T |
C |
7: 46,390,773 (GRCm39) |
N46S |
probably benign |
Het |
| Samd12 |
A |
G |
15: 53,521,853 (GRCm39) |
L119P |
probably damaging |
Het |
| Sdc3 |
A |
G |
4: 130,546,094 (GRCm39) |
E151G |
unknown |
Het |
| Serpina1a |
T |
C |
12: 103,820,938 (GRCm39) |
K370E |
probably damaging |
Het |
| Slc49a3 |
C |
T |
5: 108,592,432 (GRCm39) |
V253I |
probably benign |
Het |
| Tnrc18 |
C |
A |
5: 142,762,131 (GRCm39) |
S681I |
|
Het |
| Ulk2 |
C |
T |
11: 61,690,380 (GRCm39) |
G636R |
probably benign |
Het |
| V1ra8 |
T |
C |
6: 90,179,938 (GRCm39) |
L47P |
possibly damaging |
Het |
| Wasf3 |
T |
C |
5: 146,392,410 (GRCm39) |
L160P |
|
Het |
| Zbtb34 |
A |
C |
2: 33,301,701 (GRCm39) |
V280G |
possibly damaging |
Het |
| Zfp646 |
T |
C |
7: 127,478,515 (GRCm39) |
Y231H |
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 |
|
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 |
|
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'- AACCCTCTTTAGAAAGGTCTACC -3'
(R):5'- GGGTTGTAGCTGGGAAATCC -3'
Sequencing Primer
(F):5'- GGTCTACCAAAAATTGTGTTCCTTG -3'
(R):5'- GAAATCCCCACTAGCCATTCATTCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation