Incidental Mutation 'R7504:Btn1a1'
| ID |
581684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btn1a1
|
| Ensembl Gene |
ENSMUSG00000000706 |
| Gene Name |
butyrophilin, subfamily 1, member A1 |
| Synonyms |
Btn |
| MMRRC Submission |
045577-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23641162-23650071 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23645886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 161
(M161K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041674]
[ENSMUST00000110434]
|
| AlphaFold |
Q62556 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041674
AA Change: M161K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706
AA Change: M161K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
G |
17: 15,163,915 (GRCm39) |
A14G |
probably damaging |
Het |
| Camkk2 |
G |
A |
5: 122,884,371 (GRCm39) |
T350I |
probably damaging |
Het |
| Cdc42bpg |
C |
A |
19: 6,356,814 (GRCm39) |
D23E |
possibly damaging |
Het |
| Cdkn1a |
T |
C |
17: 29,317,488 (GRCm39) |
L36P |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,241,511 (GRCm39) |
I351T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,098 (GRCm39) |
Y1816H |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,332,257 (GRCm39) |
N300K |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,339,066 (GRCm39) |
Y294H |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,521,999 (GRCm39) |
I198N |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,284,470 (GRCm39) |
A738S |
probably damaging |
Het |
| Gsx2 |
G |
A |
5: 75,237,060 (GRCm39) |
|
probably null |
Het |
| Hc |
G |
A |
2: 34,951,331 (GRCm39) |
T22I |
not run |
Het |
| Hps1 |
T |
C |
19: 42,755,159 (GRCm39) |
D261G |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,825,338 (GRCm39) |
Y539C |
probably damaging |
Het |
| Insc |
G |
T |
7: 114,390,533 (GRCm39) |
|
probably null |
Het |
| Isg15 |
T |
C |
4: 156,284,502 (GRCm39) |
M9V |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,076,603 (GRCm39) |
L695P |
unknown |
Het |
| Nars1 |
A |
C |
18: 64,645,093 (GRCm39) |
F52V |
probably benign |
Het |
| Nmt1 |
T |
G |
11: 102,947,285 (GRCm39) |
F225V |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,096 (GRCm39) |
I130N |
probably damaging |
Het |
| Or7a36 |
A |
G |
10: 78,820,494 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Or8c8 |
A |
T |
9: 38,165,539 (GRCm39) |
K272N |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,065,936 (GRCm39) |
T385A |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,852 (GRCm39) |
T61S |
probably benign |
Het |
| Pramel40 |
G |
T |
5: 94,464,906 (GRCm39) |
V431L |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,981 (GRCm39) |
E606G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,061,514 (GRCm39) |
Y589H |
probably benign |
Het |
| Scara3 |
A |
G |
14: 66,168,780 (GRCm39) |
I279T |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,758,793 (GRCm39) |
Y477F |
possibly damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,600,091 (GRCm39) |
K415E |
probably benign |
Het |
| Stag1 |
C |
T |
9: 100,770,381 (GRCm39) |
T639I |
probably benign |
Het |
| Sv2b |
A |
T |
7: 74,786,131 (GRCm39) |
F430I |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,030,570 (GRCm39) |
C743Y |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,193,100 (GRCm39) |
V445L |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,631,696 (GRCm39) |
S652P |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,039,391 (GRCm39) |
D1155G |
possibly damaging |
Het |
| Traip |
T |
C |
9: 107,838,743 (GRCm39) |
I169T |
probably benign |
Het |
| Trmt9b |
A |
C |
8: 36,979,309 (GRCm39) |
N304T |
probably benign |
Het |
| Usp45 |
T |
G |
4: 21,816,892 (GRCm39) |
M374R |
possibly damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,104,166 (GRCm39) |
H263L |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,505,311 (GRCm39) |
V364A |
probably damaging |
Het |
| Zfp128 |
G |
A |
7: 12,624,405 (GRCm39) |
D258N |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,751,338 (GRCm39) |
T76I |
probably benign |
Het |
| Zfp688 |
C |
A |
7: 127,018,483 (GRCm39) |
C214F |
probably damaging |
Het |
| Zfp760 |
T |
C |
17: 21,941,655 (GRCm39) |
S277P |
probably 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 |
|
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 |
|
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'- CTAGTTCCACTGACCTGGTAAG -3'
(R):5'- TAGAGGAATCCTACCTAGCCCC -3'
Sequencing Primer
(F):5'- CTGGATGCAGCAGGACATGTTC -3'
(R):5'- GAATCCTACCTAGCCCCAGTCTAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation