Incidental Mutation 'IGL03275:Btnl1'
ID |
415381 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Btnl1
|
Ensembl Gene |
ENSMUSG00000062638 |
Gene Name |
butyrophilin-like 1 |
Synonyms |
LOC240074, Btnl3, NG10, LOC240074 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03275
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
34596106-34605002 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34604486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 422
(K422N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080254]
|
AlphaFold |
Q7TST0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080254
AA Change: K422N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079140 Gene: ENSMUSG00000062638 AA Change: K422N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
IGv
|
48 |
129 |
1.28e-10 |
SMART |
Blast:IG_like
|
153 |
223 |
1e-26 |
BLAST |
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
Pfam:SPRY
|
389 |
506 |
1.8e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
T |
A |
8: 73,198,968 (GRCm39) |
L125H |
probably damaging |
Het |
2210408I21Rik |
A |
T |
13: 77,446,674 (GRCm39) |
T816S |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,415,033 (GRCm39) |
I1438N |
probably damaging |
Het |
Bicdl1 |
A |
G |
5: 115,869,219 (GRCm39) |
Y134H |
probably damaging |
Het |
Ccdc158 |
T |
A |
5: 92,777,491 (GRCm39) |
I941F |
probably benign |
Het |
Crnn |
A |
G |
3: 93,056,725 (GRCm39) |
K504E |
possibly damaging |
Het |
Csmd1 |
T |
A |
8: 16,207,106 (GRCm39) |
I1308L |
probably benign |
Het |
Cwf19l1 |
T |
C |
19: 44,111,696 (GRCm39) |
M246V |
probably benign |
Het |
Desi1 |
T |
A |
15: 81,887,963 (GRCm39) |
I36F |
probably damaging |
Het |
Foxf2 |
A |
G |
13: 31,810,514 (GRCm39) |
N151S |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,305,376 (GRCm39) |
V35A |
possibly damaging |
Het |
Ftdc1 |
T |
C |
16: 58,436,119 (GRCm39) |
Y68C |
probably damaging |
Het |
Gabrg3 |
T |
C |
7: 56,423,095 (GRCm39) |
Y201C |
probably damaging |
Het |
Grb10 |
T |
A |
11: 11,883,591 (GRCm39) |
T500S |
possibly damaging |
Het |
Hsdl2 |
A |
G |
4: 59,617,747 (GRCm39) |
*371W |
probably null |
Het |
Irf7 |
C |
A |
7: 140,845,059 (GRCm39) |
R49L |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,060,375 (GRCm39) |
|
probably benign |
Het |
Jam3 |
T |
C |
9: 27,012,545 (GRCm39) |
T201A |
probably damaging |
Het |
Msantd5f6 |
T |
A |
4: 73,321,653 (GRCm39) |
R127S |
possibly damaging |
Het |
Mst1 |
T |
C |
9: 107,961,587 (GRCm39) |
S606P |
possibly damaging |
Het |
Or5p59 |
T |
A |
7: 107,702,815 (GRCm39) |
C100S |
probably damaging |
Het |
Otog |
A |
G |
7: 45,955,654 (GRCm39) |
E2800G |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,427,004 (GRCm39) |
P292S |
probably damaging |
Het |
Rab10 |
A |
T |
12: 3,306,959 (GRCm39) |
Y79N |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,787,125 (GRCm39) |
|
probably null |
Het |
Slc2a3 |
C |
T |
6: 122,713,701 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
T |
C |
19: 4,782,689 (GRCm39) |
Y542H |
possibly damaging |
Het |
Tas2r110 |
T |
C |
6: 132,845,061 (GRCm39) |
F31L |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,143 (GRCm39) |
C222S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,547,688 (GRCm39) |
S32161P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,775,451 (GRCm39) |
S1864P |
probably damaging |
Het |
Vmn1r228 |
A |
G |
17: 20,997,104 (GRCm39) |
I138T |
probably damaging |
Het |
Vmn2r10 |
T |
A |
5: 109,151,243 (GRCm39) |
T124S |
probably benign |
Het |
|
Other mutations in Btnl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Btnl1
|
APN |
17 |
34,600,091 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01743:Btnl1
|
APN |
17 |
34,604,659 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02194:Btnl1
|
APN |
17 |
34,598,509 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02329:Btnl1
|
APN |
17 |
34,601,239 (GRCm39) |
missense |
possibly damaging |
0.85 |
3-1:Btnl1
|
UTSW |
17 |
34,600,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R0021:Btnl1
|
UTSW |
17 |
34,598,468 (GRCm39) |
missense |
probably benign |
0.01 |
R0021:Btnl1
|
UTSW |
17 |
34,598,468 (GRCm39) |
missense |
probably benign |
0.01 |
R0371:Btnl1
|
UTSW |
17 |
34,600,031 (GRCm39) |
missense |
probably damaging |
0.99 |
R1689:Btnl1
|
UTSW |
17 |
34,600,182 (GRCm39) |
nonsense |
probably null |
|
R1982:Btnl1
|
UTSW |
17 |
34,598,725 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2109:Btnl1
|
UTSW |
17 |
34,598,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R2134:Btnl1
|
UTSW |
17 |
34,604,608 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2760:Btnl1
|
UTSW |
17 |
34,600,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R4084:Btnl1
|
UTSW |
17 |
34,600,133 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4586:Btnl1
|
UTSW |
17 |
34,601,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R4611:Btnl1
|
UTSW |
17 |
34,598,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R4625:Btnl1
|
UTSW |
17 |
34,598,725 (GRCm39) |
missense |
probably null |
0.99 |
R5579:Btnl1
|
UTSW |
17 |
34,600,526 (GRCm39) |
critical splice donor site |
probably null |
|
R5811:Btnl1
|
UTSW |
17 |
34,604,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6380:Btnl1
|
UTSW |
17 |
34,598,468 (GRCm39) |
missense |
probably benign |
0.01 |
R6602:Btnl1
|
UTSW |
17 |
34,604,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R6633:Btnl1
|
UTSW |
17 |
34,604,305 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8134:Btnl1
|
UTSW |
17 |
34,604,647 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8136:Btnl1
|
UTSW |
17 |
34,599,014 (GRCm39) |
splice site |
probably null |
|
R8840:Btnl1
|
UTSW |
17 |
34,604,577 (GRCm39) |
missense |
probably benign |
0.17 |
R9120:Btnl1
|
UTSW |
17 |
34,598,681 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9515:Btnl1
|
UTSW |
17 |
34,600,118 (GRCm39) |
missense |
probably benign |
0.00 |
R9528:Btnl1
|
UTSW |
17 |
34,603,352 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9577:Btnl1
|
UTSW |
17 |
34,603,335 (GRCm39) |
missense |
probably benign |
0.16 |
RF041:Btnl1
|
UTSW |
17 |
34,600,342 (GRCm39) |
missense |
probably benign |
0.04 |
X0026:Btnl1
|
UTSW |
17 |
34,596,906 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |