Incidental Mutation 'R8402:Btnl4'
ID |
652251 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btnl4
|
Ensembl Gene |
ENSMUSG00000058435 |
Gene Name |
butyrophilin-like 4 |
Synonyms |
NG11, Btn3a3, EG632126 |
MMRRC Submission |
067878-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8402 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34687320-34696402 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34688467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 437
(Y437C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064161
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065841]
|
AlphaFold |
A2CG29 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065841
AA Change: Y437C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064161 Gene: ENSMUSG00000058435 AA Change: Y437C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
IG
|
37 |
145 |
2.44e-7 |
SMART |
Pfam:C2-set_2
|
150 |
233 |
3.6e-6 |
PFAM |
low complexity region
|
255 |
268 |
N/A |
INTRINSIC |
low complexity region
|
316 |
328 |
N/A |
INTRINSIC |
PRY
|
341 |
386 |
7.43e-2 |
SMART |
SPRY
|
387 |
510 |
4.67e-20 |
SMART |
low complexity region
|
514 |
554 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
T |
15: 11,263,376 (GRCm39) |
K579N |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,035,363 (GRCm39) |
V89A |
probably benign |
Het |
Anapc1 |
G |
A |
2: 128,472,148 (GRCm39) |
S1458L |
probably benign |
Het |
AW551984 |
T |
C |
9: 39,508,949 (GRCm39) |
Y325C |
probably damaging |
Het |
Ccdc88a |
T |
A |
11: 29,413,879 (GRCm39) |
S806T |
probably damaging |
Het |
Clec2m |
T |
A |
6: 129,300,007 (GRCm39) |
D157V |
possibly damaging |
Het |
Ddit4l |
A |
G |
3: 137,331,888 (GRCm39) |
T85A |
probably damaging |
Het |
Dmxl1 |
G |
A |
18: 50,011,393 (GRCm39) |
W1183* |
probably null |
Het |
Dmxl1 |
G |
T |
18: 50,011,409 (GRCm39) |
V1189L |
probably benign |
Het |
Dmxl1 |
G |
C |
18: 50,011,394 (GRCm39) |
D1184H |
probably benign |
Het |
Evpl |
T |
C |
11: 116,116,197 (GRCm39) |
D820G |
probably benign |
Het |
Fam76b |
T |
C |
9: 13,750,972 (GRCm39) |
S289P |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Gabrb2 |
T |
C |
11: 42,378,131 (GRCm39) |
W116R |
probably damaging |
Het |
Galnt7 |
G |
A |
8: 57,995,953 (GRCm39) |
A355V |
probably damaging |
Het |
Klk1b5 |
T |
G |
7: 43,867,962 (GRCm39) |
F45V |
probably benign |
Het |
Nav2 |
T |
C |
7: 49,103,185 (GRCm39) |
V661A |
probably benign |
Het |
Nfkbiz |
T |
C |
16: 55,636,750 (GRCm39) |
N517S |
probably damaging |
Het |
Or10ak16 |
A |
G |
4: 118,750,716 (GRCm39) |
I145M |
probably benign |
Het |
Or10d5 |
T |
A |
9: 39,861,713 (GRCm39) |
Y118F |
probably benign |
Het |
P2rx1 |
T |
C |
11: 72,904,715 (GRCm39) |
F368L |
probably damaging |
Het |
Palld |
A |
T |
8: 62,164,440 (GRCm39) |
V417E |
probably damaging |
Het |
Robo1 |
C |
A |
16: 72,821,385 (GRCm39) |
A1375E |
probably benign |
Het |
Rps24 |
G |
T |
14: 24,540,829 (GRCm39) |
|
probably benign |
Het |
Serpind1 |
A |
G |
16: 17,154,949 (GRCm39) |
N259D |
probably benign |
Het |
Sh3bp4 |
C |
A |
1: 89,073,037 (GRCm39) |
N628K |
probably benign |
Het |
Tada3 |
A |
T |
6: 113,351,774 (GRCm39) |
L177Q |
probably damaging |
Het |
Tcam1 |
T |
A |
11: 106,177,731 (GRCm39) |
L508Q |
probably damaging |
Het |
Thbs1 |
T |
C |
2: 117,946,359 (GRCm39) |
S360P |
possibly damaging |
Het |
Tmem33 |
T |
C |
5: 67,424,718 (GRCm39) |
|
probably benign |
Het |
Vmn2r3 |
A |
G |
3: 64,178,617 (GRCm39) |
|
probably benign |
Het |
Vwa3b |
A |
G |
1: 37,204,879 (GRCm39) |
E121G |
probably damaging |
Het |
Zfp607b |
T |
A |
7: 27,402,127 (GRCm39) |
H194Q |
probably damaging |
Het |
Zfp729b |
G |
A |
13: 67,740,696 (GRCm39) |
P523L |
probably damaging |
Het |
|
Other mutations in Btnl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02451:Btnl4
|
APN |
17 |
34,694,901 (GRCm39) |
missense |
probably benign |
0.34 |
FR4589:Btnl4
|
UTSW |
17 |
34,691,610 (GRCm39) |
missense |
probably benign |
0.30 |
N/A:Btnl4
|
UTSW |
17 |
34,691,560 (GRCm39) |
splice site |
probably benign |
|
PIT4458001:Btnl4
|
UTSW |
17 |
34,693,242 (GRCm39) |
missense |
probably benign |
0.25 |
R0601:Btnl4
|
UTSW |
17 |
34,688,285 (GRCm39) |
missense |
probably benign |
0.07 |
R0718:Btnl4
|
UTSW |
17 |
34,688,608 (GRCm39) |
missense |
probably benign |
0.44 |
R1163:Btnl4
|
UTSW |
17 |
34,689,049 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1823:Btnl4
|
UTSW |
17 |
34,694,826 (GRCm39) |
critical splice donor site |
probably null |
|
R1954:Btnl4
|
UTSW |
17 |
34,691,904 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1955:Btnl4
|
UTSW |
17 |
34,691,904 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4649:Btnl4
|
UTSW |
17 |
34,691,602 (GRCm39) |
missense |
probably benign |
0.12 |
R4651:Btnl4
|
UTSW |
17 |
34,691,602 (GRCm39) |
missense |
probably benign |
0.12 |
R4681:Btnl4
|
UTSW |
17 |
34,689,075 (GRCm39) |
splice site |
probably null |
|
R6081:Btnl4
|
UTSW |
17 |
34,693,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R6770:Btnl4
|
UTSW |
17 |
34,693,011 (GRCm39) |
missense |
probably benign |
0.26 |
R6859:Btnl4
|
UTSW |
17 |
34,688,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R6885:Btnl4
|
UTSW |
17 |
34,691,919 (GRCm39) |
missense |
probably benign |
0.00 |
R7265:Btnl4
|
UTSW |
17 |
34,694,868 (GRCm39) |
missense |
probably benign |
0.00 |
R7316:Btnl4
|
UTSW |
17 |
34,688,031 (GRCm39) |
missense |
probably benign |
0.06 |
R7454:Btnl4
|
UTSW |
17 |
34,691,348 (GRCm39) |
missense |
probably benign |
|
R7908:Btnl4
|
UTSW |
17 |
34,692,161 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7991:Btnl4
|
UTSW |
17 |
34,693,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R8086:Btnl4
|
UTSW |
17 |
34,692,976 (GRCm39) |
critical splice donor site |
probably null |
|
R9566:Btnl4
|
UTSW |
17 |
34,688,263 (GRCm39) |
missense |
probably benign |
0.00 |
X0023:Btnl4
|
UTSW |
17 |
34,694,904 (GRCm39) |
missense |
possibly damaging |
0.61 |
Z1177:Btnl4
|
UTSW |
17 |
34,689,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCAGACTTAAGCCTGAAGTATGG -3'
(R):5'- GATTCCACTCTGTGCTTGGATG -3'
Sequencing Primer
(F):5'- CCTGAAGTATGGAAAAAGAGTCCC -3'
(R):5'- ACCTCTTCTGTGTGTTAGGCATCAG -3'
|
Posted On |
2020-10-20 |