Incidental Mutation 'R0332:Bltp3a'
ID |
35954 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bltp3a
|
Ensembl Gene |
ENSMUSG00000039512 |
Gene Name |
bridge-like lipid transfer protein family member 3A |
Synonyms |
1110020K19Rik, F830021D11Rik, Uhrf1bp1 |
MMRRC Submission |
038541-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0332 (G1)
|
Quality Score |
216 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 28112268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114849]
|
AlphaFold |
B2KF50 |
Predicted Effect |
probably null
Transcript: ENSMUST00000114849
|
SMART Domains |
Protein: ENSMUSP00000110499 Gene: ENSMUSG00000039512
Domain | Start | End | E-Value | Type |
Pfam:Chorein_N
|
1 |
104 |
2.6e-18 |
PFAM |
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
low complexity region
|
1128 |
1144 |
N/A |
INTRINSIC |
low complexity region
|
1200 |
1216 |
N/A |
INTRINSIC |
low complexity region
|
1322 |
1333 |
N/A |
INTRINSIC |
low complexity region
|
1375 |
1386 |
N/A |
INTRINSIC |
coiled coil region
|
1394 |
1424 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137825
|
Meta Mutation Damage Score |
0.9485 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aggf1 |
T |
C |
13: 95,505,954 (GRCm39) |
E211G |
probably damaging |
Het |
Aox3 |
A |
G |
1: 58,181,910 (GRCm39) |
N299S |
probably benign |
Het |
Arhgef7 |
T |
A |
8: 11,874,701 (GRCm39) |
Y777* |
probably null |
Het |
Atad1 |
A |
G |
19: 32,679,934 (GRCm39) |
|
probably benign |
Het |
Bop1 |
A |
G |
15: 76,340,187 (GRCm39) |
Y130H |
probably damaging |
Het |
Ccar2 |
G |
T |
14: 70,379,384 (GRCm39) |
|
probably benign |
Het |
Ccdc110 |
G |
T |
8: 46,396,001 (GRCm39) |
E631* |
probably null |
Het |
Cfap54 |
C |
T |
10: 92,871,319 (GRCm39) |
D634N |
probably damaging |
Het |
Cldn8 |
C |
T |
16: 88,359,246 (GRCm39) |
|
silent |
Het |
Cstf3 |
G |
T |
2: 104,476,812 (GRCm39) |
|
probably null |
Het |
Dgkq |
T |
C |
5: 108,802,965 (GRCm39) |
|
probably benign |
Het |
Dsp |
T |
A |
13: 38,366,204 (GRCm39) |
L546* |
probably null |
Het |
Eif3g |
A |
T |
9: 20,809,280 (GRCm39) |
|
probably benign |
Het |
Fam228a |
T |
A |
12: 4,785,018 (GRCm39) |
I38F |
probably damaging |
Het |
Fto |
A |
T |
8: 92,128,518 (GRCm39) |
|
probably benign |
Het |
Gcnt4 |
G |
T |
13: 97,083,018 (GRCm39) |
V105L |
probably benign |
Het |
Gm10644 |
A |
G |
8: 84,660,210 (GRCm39) |
L45S |
possibly damaging |
Het |
Gm7275 |
A |
T |
16: 47,894,132 (GRCm39) |
|
noncoding transcript |
Het |
Gm7579 |
T |
C |
7: 141,766,112 (GRCm39) |
S173P |
unknown |
Het |
Gpatch8 |
T |
C |
11: 102,372,668 (GRCm39) |
N290S |
unknown |
Het |
Grep1 |
A |
T |
17: 23,933,578 (GRCm39) |
|
probably benign |
Het |
Hspb8 |
T |
A |
5: 116,547,532 (GRCm39) |
D150V |
probably damaging |
Het |
Ifitm1 |
T |
C |
7: 140,548,366 (GRCm39) |
|
probably benign |
Het |
Ifnl2 |
T |
C |
7: 28,208,756 (GRCm39) |
T99A |
possibly damaging |
Het |
Ints4 |
T |
C |
7: 97,166,925 (GRCm39) |
L577P |
probably damaging |
Het |
Jph4 |
T |
C |
14: 55,351,467 (GRCm39) |
E183G |
possibly damaging |
Het |
Loxhd1 |
T |
A |
18: 77,471,526 (GRCm39) |
|
probably null |
Het |
Mug1 |
G |
A |
6: 121,826,856 (GRCm39) |
|
probably null |
Het |
Nlrp2 |
C |
A |
7: 5,320,629 (GRCm39) |
C836F |
probably damaging |
Het |
Nup210l |
G |
T |
3: 90,039,616 (GRCm39) |
|
probably benign |
Het |
Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
Or51h1 |
A |
T |
7: 102,308,672 (GRCm39) |
I215F |
probably damaging |
Het |
Or7e178 |
A |
G |
9: 20,225,352 (GRCm39) |
L288S |
probably benign |
Het |
Phykpl |
A |
G |
11: 51,477,502 (GRCm39) |
E98G |
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,303,558 (GRCm39) |
N1648D |
probably benign |
Het |
Plppr5 |
A |
T |
3: 117,465,581 (GRCm39) |
R277S |
probably benign |
Het |
Ppp1r36 |
T |
A |
12: 76,474,677 (GRCm39) |
F86L |
probably benign |
Het |
Ptgis |
A |
T |
2: 167,056,753 (GRCm39) |
L278Q |
probably damaging |
Het |
Rasa2 |
A |
T |
9: 96,488,229 (GRCm39) |
F90Y |
probably damaging |
Het |
Setd3 |
T |
C |
12: 108,073,838 (GRCm39) |
K480E |
probably benign |
Het |
Slc66a1 |
C |
T |
4: 139,027,610 (GRCm39) |
S244N |
possibly damaging |
Het |
Snx2 |
T |
C |
18: 53,345,983 (GRCm39) |
F389L |
probably benign |
Het |
Sulf2 |
G |
A |
2: 165,931,119 (GRCm39) |
T296M |
probably benign |
Het |
Supt16 |
A |
T |
14: 52,418,614 (GRCm39) |
H214Q |
probably damaging |
Het |
Tbx4 |
A |
T |
11: 85,789,356 (GRCm39) |
M12L |
probably benign |
Het |
Tlk1 |
A |
T |
2: 70,575,909 (GRCm39) |
|
probably null |
Het |
Tmprss7 |
C |
T |
16: 45,501,001 (GRCm39) |
V267M |
probably benign |
Het |
Tmub2 |
G |
A |
11: 102,179,174 (GRCm39) |
R291H |
probably damaging |
Het |
Trpm2 |
A |
T |
10: 77,783,822 (GRCm39) |
V217E |
probably damaging |
Het |
Try10 |
T |
A |
6: 41,331,154 (GRCm39) |
V10E |
probably benign |
Het |
Ttn |
A |
G |
2: 76,596,226 (GRCm39) |
V20229A |
probably benign |
Het |
Ttn |
A |
C |
2: 76,608,538 (GRCm39) |
|
probably null |
Het |
Usf2 |
T |
A |
7: 30,654,604 (GRCm39) |
M199L |
possibly damaging |
Het |
Usp37 |
A |
T |
1: 74,534,869 (GRCm39) |
S26T |
possibly damaging |
Het |
Vrk1 |
G |
C |
12: 106,024,884 (GRCm39) |
Q253H |
probably benign |
Het |
Wdr72 |
A |
T |
9: 74,064,534 (GRCm39) |
|
probably null |
Het |
Xrra1 |
T |
C |
7: 99,525,449 (GRCm39) |
F123L |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,673,255 (GRCm39) |
I1435T |
probably damaging |
Het |
Zfp712 |
T |
A |
13: 67,188,877 (GRCm39) |
H550L |
probably damaging |
Het |
|
Other mutations in Bltp3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00675:Bltp3a
|
APN |
17 |
28,095,891 (GRCm39) |
splice site |
probably benign |
|
IGL00786:Bltp3a
|
APN |
17 |
28,098,266 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01074:Bltp3a
|
APN |
17 |
28,098,265 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01780:Bltp3a
|
APN |
17 |
28,112,474 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02668:Bltp3a
|
APN |
17 |
28,105,549 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02686:Bltp3a
|
APN |
17 |
28,113,563 (GRCm39) |
missense |
probably benign |
|
IGL03240:Bltp3a
|
APN |
17 |
28,112,227 (GRCm39) |
missense |
probably benign |
0.37 |
hades
|
UTSW |
17 |
28,113,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R0167:Bltp3a
|
UTSW |
17 |
28,099,176 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0240:Bltp3a
|
UTSW |
17 |
28,114,844 (GRCm39) |
splice site |
probably benign |
|
R0668:Bltp3a
|
UTSW |
17 |
28,114,913 (GRCm39) |
missense |
probably benign |
0.16 |
R0726:Bltp3a
|
UTSW |
17 |
28,104,463 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0964:Bltp3a
|
UTSW |
17 |
28,106,152 (GRCm39) |
missense |
probably damaging |
0.96 |
R1125:Bltp3a
|
UTSW |
17 |
28,112,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R1139:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1164:Bltp3a
|
UTSW |
17 |
28,114,354 (GRCm39) |
critical splice donor site |
probably null |
|
R1192:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1277:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1279:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1340:Bltp3a
|
UTSW |
17 |
28,113,695 (GRCm39) |
missense |
probably benign |
0.00 |
R1341:Bltp3a
|
UTSW |
17 |
28,096,393 (GRCm39) |
splice site |
probably benign |
|
R1344:Bltp3a
|
UTSW |
17 |
28,113,551 (GRCm39) |
missense |
probably benign |
0.41 |
R1418:Bltp3a
|
UTSW |
17 |
28,113,551 (GRCm39) |
missense |
probably benign |
0.41 |
R1552:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1726:Bltp3a
|
UTSW |
17 |
28,105,225 (GRCm39) |
splice site |
probably null |
|
R1791:Bltp3a
|
UTSW |
17 |
28,113,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2858:Bltp3a
|
UTSW |
17 |
28,104,436 (GRCm39) |
missense |
probably damaging |
0.99 |
R3034:Bltp3a
|
UTSW |
17 |
28,113,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R4111:Bltp3a
|
UTSW |
17 |
28,105,064 (GRCm39) |
nonsense |
probably null |
|
R4159:Bltp3a
|
UTSW |
17 |
28,103,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R4160:Bltp3a
|
UTSW |
17 |
28,103,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R4161:Bltp3a
|
UTSW |
17 |
28,103,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R4431:Bltp3a
|
UTSW |
17 |
28,104,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R4575:Bltp3a
|
UTSW |
17 |
28,106,477 (GRCm39) |
missense |
probably benign |
0.02 |
R4657:Bltp3a
|
UTSW |
17 |
28,109,079 (GRCm39) |
missense |
probably benign |
0.09 |
R4666:Bltp3a
|
UTSW |
17 |
28,112,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4825:Bltp3a
|
UTSW |
17 |
28,096,368 (GRCm39) |
missense |
probably damaging |
0.98 |
R4872:Bltp3a
|
UTSW |
17 |
28,109,110 (GRCm39) |
missense |
probably benign |
0.10 |
R4956:Bltp3a
|
UTSW |
17 |
28,108,958 (GRCm39) |
splice site |
probably null |
|
R4976:Bltp3a
|
UTSW |
17 |
28,103,000 (GRCm39) |
missense |
probably damaging |
0.99 |
R4982:Bltp3a
|
UTSW |
17 |
28,105,580 (GRCm39) |
missense |
probably benign |
0.05 |
R5017:Bltp3a
|
UTSW |
17 |
28,113,713 (GRCm39) |
nonsense |
probably null |
|
R5033:Bltp3a
|
UTSW |
17 |
28,105,838 (GRCm39) |
missense |
probably damaging |
0.99 |
R5137:Bltp3a
|
UTSW |
17 |
28,095,964 (GRCm39) |
splice site |
probably null |
|
R5159:Bltp3a
|
UTSW |
17 |
28,100,530 (GRCm39) |
missense |
probably damaging |
0.98 |
R5177:Bltp3a
|
UTSW |
17 |
28,103,992 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5196:Bltp3a
|
UTSW |
17 |
28,075,737 (GRCm39) |
missense |
probably benign |
0.09 |
R5214:Bltp3a
|
UTSW |
17 |
28,106,489 (GRCm39) |
missense |
probably benign |
|
R5352:Bltp3a
|
UTSW |
17 |
28,106,489 (GRCm39) |
missense |
probably benign |
|
R5354:Bltp3a
|
UTSW |
17 |
28,106,489 (GRCm39) |
missense |
probably benign |
|
R5425:Bltp3a
|
UTSW |
17 |
28,106,489 (GRCm39) |
missense |
probably benign |
|
R5601:Bltp3a
|
UTSW |
17 |
28,103,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R6080:Bltp3a
|
UTSW |
17 |
28,099,271 (GRCm39) |
missense |
probably benign |
|
R6088:Bltp3a
|
UTSW |
17 |
28,103,579 (GRCm39) |
critical splice donor site |
probably null |
|
R6331:Bltp3a
|
UTSW |
17 |
28,112,175 (GRCm39) |
missense |
probably benign |
0.01 |
R6529:Bltp3a
|
UTSW |
17 |
28,098,750 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6614:Bltp3a
|
UTSW |
17 |
28,095,899 (GRCm39) |
missense |
probably benign |
0.18 |
R6701:Bltp3a
|
UTSW |
17 |
28,106,331 (GRCm39) |
nonsense |
probably null |
|
R7082:Bltp3a
|
UTSW |
17 |
28,109,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R7158:Bltp3a
|
UTSW |
17 |
28,105,407 (GRCm39) |
nonsense |
probably null |
|
R8338:Bltp3a
|
UTSW |
17 |
28,095,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R8914:Bltp3a
|
UTSW |
17 |
28,105,887 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9135:Bltp3a
|
UTSW |
17 |
28,104,902 (GRCm39) |
nonsense |
probably null |
|
R9218:Bltp3a
|
UTSW |
17 |
28,114,529 (GRCm39) |
missense |
probably benign |
0.00 |
R9421:Bltp3a
|
UTSW |
17 |
28,095,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R9495:Bltp3a
|
UTSW |
17 |
28,112,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R9514:Bltp3a
|
UTSW |
17 |
28,112,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R9621:Bltp3a
|
UTSW |
17 |
28,105,753 (GRCm39) |
missense |
probably benign |
0.00 |
R9766:Bltp3a
|
UTSW |
17 |
28,105,799 (GRCm39) |
missense |
probably damaging |
1.00 |
RF005:Bltp3a
|
UTSW |
17 |
28,104,505 (GRCm39) |
missense |
probably damaging |
1.00 |
X0017:Bltp3a
|
UTSW |
17 |
28,096,315 (GRCm39) |
missense |
probably benign |
0.03 |
Z1176:Bltp3a
|
UTSW |
17 |
28,105,280 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Bltp3a
|
UTSW |
17 |
28,095,650 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Bltp3a
|
UTSW |
17 |
28,103,940 (GRCm39) |
missense |
not run |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAATCCATCAGCTCTCTGGTTCGC -3'
(R):5'- TGGTTATCACCCATACCTGGGCAC -3'
Sequencing Primer
(F):5'- GTTGAATGTGAACAGATCTTTCTGAC -3'
(R):5'- GCACTGTCCATGTAGAAACTG -3'
|
Posted On |
2013-05-09 |