Incidental Mutation 'IGL02194:Btnl1'
| ID |
283994 |
| 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 # |
IGL02194
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34596106-34605002 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 34598509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 42
(T42P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080254]
|
| AlphaFold |
Q7TST0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080254
AA Change: T42P
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: T42P
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
| Akap5 |
C |
T |
12: 76,374,807 (GRCm39) |
P80S |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,392,429 (GRCm39) |
D539E |
probably benign |
Het |
| Anxa11 |
A |
G |
14: 25,870,553 (GRCm39) |
D39G |
unknown |
Het |
| Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
| Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,638,544 (GRCm39) |
|
probably benign |
Het |
| Det1 |
A |
T |
7: 78,489,912 (GRCm39) |
V371E |
probably benign |
Het |
| Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
| Fam76b |
G |
T |
9: 13,744,274 (GRCm39) |
G124W |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,211,341 (GRCm39) |
E117G |
probably benign |
Het |
| Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
| Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
| Krt15 |
A |
G |
11: 100,022,839 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
| Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
| Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
| Rnf157 |
C |
T |
11: 116,237,858 (GRCm39) |
|
probably null |
Het |
| Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
| Ube2q2l |
T |
C |
6: 136,378,056 (GRCm39) |
Q258R |
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 |
|
IGL02329:Btnl1
|
APN |
17 |
34,601,239 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03275:Btnl1
|
APN |
17 |
34,604,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation