Incidental Mutation 'R5196:Bltp3a'
| ID |
400282 |
| 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 |
042772-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5196 (G1)
|
| Quality Score |
140 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28075737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 5
(I5V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071006]
[ENSMUST00000114849]
|
| AlphaFold |
B2KF50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071006
|
| SMART Domains |
Protein: ENSMUSP00000063976
Gene: ENSMUSG00000024217
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_U1
|
1 |
37 |
5.13e-15 |
SMART |
|
low complexity region
|
63 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114849
AA Change: I5V
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: I5V
| 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: ENSMUST00000130810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137581
|
| Meta Mutation Damage Score |
0.0795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,686,450 (GRCm39) |
T281A |
possibly damaging |
Het |
| 4930503B20Rik |
A |
G |
3: 146,352,018 (GRCm39) |
|
probably benign |
Het |
| 6330409D20Rik |
T |
A |
2: 32,630,552 (GRCm39) |
|
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Amigo2 |
A |
G |
15: 97,143,942 (GRCm39) |
F160S |
probably damaging |
Het |
| Arcn1 |
A |
T |
9: 44,671,324 (GRCm39) |
L68M |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,607,830 (GRCm39) |
S163T |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,913,136 (GRCm39) |
|
probably benign |
Het |
| Ccm2 |
G |
A |
11: 6,511,181 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,899,978 (GRCm39) |
V431A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,065,730 (GRCm39) |
M668K |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,729 (GRCm39) |
Y129C |
probably damaging |
Het |
| Chrna5 |
A |
G |
9: 54,913,803 (GRCm39) |
I421V |
possibly damaging |
Het |
| Clk1 |
T |
A |
1: 58,453,772 (GRCm39) |
T301S |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,744,260 (GRCm39) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,302,006 (GRCm39) |
N183I |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,479,845 (GRCm39) |
|
probably benign |
Het |
| Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
| Gm9847 |
T |
A |
12: 14,545,016 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
A |
G |
17: 36,343,499 (GRCm39) |
|
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,347,915 (GRCm39) |
E613G |
probably damaging |
Het |
| Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
| Klrb1c |
T |
A |
6: 128,757,262 (GRCm39) |
S268C |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,042,330 (GRCm39) |
E245G |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,240,889 (GRCm39) |
I220N |
probably damaging |
Het |
| Mfap3 |
A |
G |
11: 57,420,639 (GRCm39) |
T207A |
probably damaging |
Het |
| Mtdh |
G |
T |
15: 34,118,150 (GRCm39) |
K75N |
probably damaging |
Het |
| Mybpc1 |
A |
G |
10: 88,372,213 (GRCm39) |
Y806H |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,299 (GRCm39) |
D158G |
probably damaging |
Het |
| Odr4 |
T |
A |
1: 150,258,140 (GRCm39) |
D165V |
probably damaging |
Het |
| Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,650 (GRCm39) |
D87V |
possibly damaging |
Het |
| Pask |
A |
G |
1: 93,237,805 (GRCm39) |
|
probably benign |
Het |
| Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
| Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
| Prmt9 |
G |
A |
8: 78,291,626 (GRCm39) |
V333M |
probably benign |
Het |
| Pten |
A |
T |
19: 32,792,897 (GRCm39) |
M239L |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,454 (GRCm39) |
D67G |
probably damaging |
Het |
| Reg2 |
T |
A |
6: 78,382,530 (GRCm39) |
L12* |
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc5a7 |
C |
A |
17: 54,588,750 (GRCm39) |
|
probably null |
Het |
| Tcaf3 |
G |
T |
6: 42,570,649 (GRCm39) |
R368S |
probably benign |
Het |
| Tfcp2 |
A |
G |
15: 100,418,595 (GRCm39) |
V189A |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,126,243 (GRCm39) |
S191G |
probably damaging |
Het |
| Zfp536 |
G |
A |
7: 37,180,185 (GRCm39) |
R807W |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
|
R0332:Bltp3a
|
UTSW |
17 |
28,112,268 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- AACTCCTGGCGCTGAGTTAG -3'
(R):5'- TTTTCAAGAGTGATGCAACAGGGTC -3'
Sequencing Primer
(F):5'- GCTGAGTTAGGGGCGACAG -3'
(R):5'- AGGAGCTCGCCTCACAGAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation