Incidental Mutation 'R4169:Btn1a1'
| ID |
320710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btn1a1
|
| Ensembl Gene |
ENSMUSG00000000706 |
| Gene Name |
butyrophilin, subfamily 1, member A1 |
| Synonyms |
Btn |
| MMRRC Submission |
041010-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4169 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23641162-23650071 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23649325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 9
(L9P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041674]
[ENSMUST00000110434]
|
| AlphaFold |
Q62556 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041674
AA Change: L9P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706
AA Change: L9P
| 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
AA Change: L9P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106064
Gene: ENSMUSG00000000706
AA Change: L9P
| 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
|
| Meta Mutation Damage Score |
0.2868 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 103,002,157 (GRCm39) |
M546K |
probably damaging |
Het |
| Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,479,391 (GRCm39) |
P758L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,476,549 (GRCm39) |
Y241* |
probably null |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,205,872 (GRCm39) |
T1042A |
possibly damaging |
Het |
| Gm5445 |
A |
G |
13: 12,393,527 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
T |
C |
5: 18,208,862 (GRCm39) |
F189L |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,837,008 (GRCm39) |
T815A |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,471,750 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,986,181 (GRCm39) |
D444G |
probably benign |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,166 (GRCm39) |
I70F |
possibly damaging |
Het |
| Kat7 |
A |
G |
11: 95,171,298 (GRCm39) |
F469L |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Krtap6-1 |
A |
G |
16: 88,828,584 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mthfr-ps1 |
T |
C |
5: 78,622,436 (GRCm39) |
|
noncoding transcript |
Het |
| Nop53 |
A |
T |
7: 15,676,244 (GRCm39) |
W152R |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,591 (GRCm39) |
M62K |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,277,162 (GRCm39) |
S324R |
unknown |
Het |
| Or8s8 |
A |
G |
15: 98,354,878 (GRCm39) |
E229G |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,331,358 (GRCm39) |
N548K |
probably damaging |
Het |
| Pcdhga12 |
A |
G |
18: 37,899,467 (GRCm39) |
I100V |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,183,675 (GRCm39) |
H1743R |
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,700,515 (GRCm39) |
V1807A |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,474,582 (GRCm39) |
M1V |
probably null |
Het |
| Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
| Rfng |
C |
G |
11: 120,674,772 (GRCm39) |
G73R |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,188 (GRCm39) |
L459P |
possibly damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,203 (GRCm39) |
D536V |
probably damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,084,032 (GRCm39) |
T451A |
possibly damaging |
Het |
| Snapc1 |
T |
A |
12: 74,029,265 (GRCm39) |
N349K |
probably benign |
Het |
| Sox1ot |
A |
G |
8: 12,480,544 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem178 |
C |
T |
17: 81,252,232 (GRCm39) |
H39Y |
possibly damaging |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,703,103 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,762,909 (GRCm39) |
D3250G |
probably damaging |
Het |
| Ube2nl |
T |
A |
7: 61,199,380 (GRCm39) |
|
noncoding transcript |
Het |
| Vps25 |
T |
C |
11: 101,144,918 (GRCm39) |
S39P |
probably damaging |
Het |
| Zkscan14 |
G |
A |
5: 145,132,985 (GRCm39) |
T182I |
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 |
|
|
IGL02933:Btn1a1
|
APN |
13 |
23,644,697 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACTCACTGGATTGTGGTGAAG -3'
(R):5'- ATCTACAACTGTGCCTCGC -3'
Sequencing Primer
(F):5'- ATTGTGGTGAAGGTCCCCC -3'
(R):5'- TCCATTCTGGAGGCAGTCGAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation