Incidental Mutation 'IGL02933:Btn1a1'
| ID |
364188 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Btn1a1
|
| Ensembl Gene |
ENSMUSG00000000706 |
| Gene Name |
butyrophilin, subfamily 1, member A1 |
| Synonyms |
Btn |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23641162-23650071 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23644697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 267
(F267S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041674]
[ENSMUST00000110434]
|
| AlphaFold |
Q62556 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041674
AA Change: F267S
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706
AA Change: F267S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
24 |
N/A |
INTRINSIC |
|
IGv
|
46 |
127 |
1.97e-11 |
SMART |
|
IG_like
|
150 |
237 |
9.03e1 |
SMART |
|
transmembrane domain
|
246 |
268 |
N/A |
INTRINSIC |
|
PRY
|
303 |
355 |
2.64e-27 |
SMART |
|
SPRY
|
356 |
477 |
1.46e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110434
|
| SMART Domains |
Protein: ENSMUSP00000106064
Gene: ENSMUSG00000000706
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
24 |
N/A |
INTRINSIC |
|
IGv
|
46 |
127 |
1.97e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225831
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired lactation and abnormal lipid accumulation in the mammary gland. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
G |
T |
7: 44,012,436 (GRCm39) |
S24Y |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,250,790 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,612,881 (GRCm39) |
T1485I |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,473,740 (GRCm39) |
N357D |
probably damaging |
Het |
| C2cd2 |
A |
T |
16: 97,693,401 (GRCm39) |
F157I |
probably benign |
Het |
| Cd55 |
T |
C |
1: 130,380,261 (GRCm39) |
E239G |
probably damaging |
Het |
| Cnpy1 |
T |
A |
5: 28,412,119 (GRCm39) |
H138L |
probably benign |
Het |
| Cpne4 |
T |
C |
9: 104,896,966 (GRCm39) |
V373A |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,567 (GRCm39) |
S880T |
probably benign |
Het |
| Etv1 |
C |
T |
12: 38,831,832 (GRCm39) |
T27I |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,965,908 (GRCm39) |
|
probably null |
Het |
| Flcn |
T |
C |
11: 59,694,583 (GRCm39) |
S130G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,849,902 (GRCm39) |
|
probably benign |
Het |
| Git1 |
C |
A |
11: 77,391,902 (GRCm39) |
H241Q |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Idh1 |
C |
T |
1: 65,201,072 (GRCm39) |
S293N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,214,402 (GRCm39) |
S1449P |
probably benign |
Het |
| Mmel1 |
T |
A |
4: 154,968,087 (GRCm39) |
L141Q |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,661 (GRCm39) |
I109T |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,596 (GRCm39) |
Y279H |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,310 (GRCm39) |
Y60N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,117,991 (GRCm39) |
I578T |
probably damaging |
Het |
| Reg2 |
A |
G |
6: 78,384,917 (GRCm39) |
Y153C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,484 (GRCm39) |
S902G |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,232,504 (GRCm39) |
T259M |
probably damaging |
Het |
| Traf1 |
C |
A |
2: 34,839,107 (GRCm39) |
D73Y |
possibly damaging |
Het |
| Trnt1 |
G |
A |
6: 106,750,387 (GRCm39) |
G97D |
probably benign |
Het |
| Ttll11 |
T |
C |
2: 35,869,422 (GRCm39) |
H72R |
probably benign |
Het |
| Txndc12 |
T |
C |
4: 108,715,193 (GRCm39) |
|
probably null |
Het |
| Zan |
C |
A |
5: 137,426,676 (GRCm39) |
S2490I |
unknown |
Het |
| Zfp955a |
T |
C |
17: 33,462,683 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
C |
12: 79,326,854 (GRCm39) |
S756R |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,670,238 (GRCm39) |
N412S |
possibly damaging |
Het |
|
| Other mutations in Btn1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Btn1a1
|
APN |
13 |
23,645,907 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01608:Btn1a1
|
APN |
13 |
23,645,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02538:Btn1a1
|
APN |
13 |
23,643,385 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02795:Btn1a1
|
APN |
13 |
23,644,786 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0063:Btn1a1
|
UTSW |
13 |
23,649,267 (GRCm39) |
splice site |
probably null |
|
|
R0855:Btn1a1
|
UTSW |
13 |
23,648,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Btn1a1
|
UTSW |
13 |
23,644,638 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2122:Btn1a1
|
UTSW |
13 |
23,645,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Btn1a1
|
UTSW |
13 |
23,645,721 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3112:Btn1a1
|
UTSW |
13 |
23,645,721 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3941:Btn1a1
|
UTSW |
13 |
23,643,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4169:Btn1a1
|
UTSW |
13 |
23,649,325 (GRCm39) |
missense |
probably benign |
|
|
R4924:Btn1a1
|
UTSW |
13 |
23,648,396 (GRCm39) |
splice site |
probably benign |
|
|
R4927:Btn1a1
|
UTSW |
13 |
23,644,794 (GRCm39) |
splice site |
probably null |
|
|
R5255:Btn1a1
|
UTSW |
13 |
23,648,324 (GRCm39) |
intron |
probably benign |
|
|
R5554:Btn1a1
|
UTSW |
13 |
23,643,295 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5726:Btn1a1
|
UTSW |
13 |
23,643,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Btn1a1
|
UTSW |
13 |
23,648,521 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6664:Btn1a1
|
UTSW |
13 |
23,643,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7117:Btn1a1
|
UTSW |
13 |
23,643,415 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7150:Btn1a1
|
UTSW |
13 |
23,643,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Btn1a1
|
UTSW |
13 |
23,643,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Btn1a1
|
UTSW |
13 |
23,645,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7504:Btn1a1
|
UTSW |
13 |
23,645,886 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7874:Btn1a1
|
UTSW |
13 |
23,643,385 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7878:Btn1a1
|
UTSW |
13 |
23,643,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8271:Btn1a1
|
UTSW |
13 |
23,645,919 (GRCm39) |
missense |
probably benign |
|
|
R8354:Btn1a1
|
UTSW |
13 |
23,648,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8454:Btn1a1
|
UTSW |
13 |
23,648,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8960:Btn1a1
|
UTSW |
13 |
23,648,741 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-12-18 |
Incidental Mutation