Incidental Mutation 'RF043:Btnl10'
| ID |
604927 |
| 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 # |
RF043 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58808703-58817791 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CAAA to CAAAAAA
at 58814752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000063279
Gene: ENSMUSG00000020490
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124234
Gene: ENSMUSG00000020490
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGTGGCGG |
18: 36,693,970 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,464 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
AGACACACTGCCCAGGGA |
AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA |
9: 86,922,484 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGCAGGAG |
9: 99,465,750 (GRCm39) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
| Emid1 |
G |
T |
11: 5,094,322 (GRCm39) |
P63Q |
probably damaging |
Het |
| Gabre |
GCTCCG |
GCTCCGACTCCG |
X: 71,313,654 (GRCm39) |
|
probably benign |
Het |
| Gar1 |
AACTGCC |
A |
3: 129,624,337 (GRCm39) |
|
probably benign |
Het |
| Gm10181 |
GAGAGAGAGAGAGA |
G |
9: 25,000,755 (GRCm39) |
|
probably null |
Het |
| Hic1 |
GGGA |
G |
11: 75,060,281 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGAAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
CTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT |
9: 106,447,812 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Krtap4-2 |
AGGGGCGGCAGC |
A |
11: 99,525,547 (GRCm39) |
|
probably null |
Het |
| Lmx1b |
CATCTTGATGCCGTCCAA |
CA |
2: 33,530,521 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
TGGTGGTG |
T |
14: 75,185,015 (GRCm39) |
|
probably null |
Het |
| Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCTGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
GAAC |
GAACAAC |
7: 47,671,257 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGTGAGGAGCAAGCTGAGA |
AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA |
2: 119,458,073 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
GGTGTTG |
GG |
11: 54,001,076 (GRCm39) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Plekhs1 |
TCCAGAC |
TCCAGACCTCCCCCCAGAC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Het |
| Ptms |
TCCTCCTC |
TCCTCCTCCTC |
6: 124,891,411 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
AATGGGGATTC |
AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC |
5: 90,756,791 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
CAAAAAAAAAAAA |
15: 36,010,982 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
TCTC |
TCTCTCTCTCTCTCGCTC |
12: 26,364,013 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
GAG |
GAGAAG |
14: 52,386,852 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
ACACAC |
A |
12: 75,769,399 (GRCm39) |
|
probably null |
Het |
| Slc39a4 |
GTC |
GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC |
15: 76,499,070 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
TCTCGC |
TCTCGCGCTCGC |
4: 34,049,846 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GGA |
GGATGA |
X: 98,110,126 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GA |
GAGCA |
X: 98,110,133 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGATCCCCTTGGC |
AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC |
18: 60,966,644 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
TGGGCTTG |
TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT |
6: 72,593,046 (GRCm39) |
|
probably benign |
Het |
| Tmed6 |
AGC |
AGCTCGC |
8: 107,788,228 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,154 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- GTTTTACAAGAAGAAACTCCAAGCC -3'
(R):5'- AGAAATCCCTGACCCTGGTG -3'
Sequencing Primer
(F):5'- GACTTGCCTGTCTCCTCCAGAG -3'
(R):5'- GCATTTGGCACAGAAATTTGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation