Incidental Mutation 'R5159:Bltp3a'
| ID |
396907 |
| 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 |
042741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28100530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 323
(H323R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114849]
|
| AlphaFold |
B2KF50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114849
AA Change: H323R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: H323R
| 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
|
| Meta Mutation Damage Score |
0.9052 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,352 (GRCm39) |
T412A |
probably benign |
Het |
| Aldh5a1 |
T |
A |
13: 25,097,776 (GRCm39) |
M420L |
possibly damaging |
Het |
| Armc2 |
A |
G |
10: 41,884,711 (GRCm39) |
S77P |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,856,317 (GRCm39) |
|
probably null |
Het |
| Bmp5 |
T |
A |
9: 75,801,035 (GRCm39) |
F388L |
probably damaging |
Het |
| Brca2 |
T |
G |
5: 150,465,573 (GRCm39) |
V1779G |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,932,483 (GRCm39) |
S147T |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,519,233 (GRCm39) |
E409G |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,632,886 (GRCm39) |
R29W |
probably damaging |
Het |
| Clic6 |
T |
A |
16: 92,324,954 (GRCm39) |
Y371N |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,425,991 (GRCm39) |
|
probably null |
Het |
| Coro1a |
A |
T |
7: 126,302,221 (GRCm39) |
V42D |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Crb1 |
A |
C |
1: 139,170,756 (GRCm39) |
V817G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,549,378 (GRCm39) |
T299A |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,029,738 (GRCm39) |
R1019C |
probably benign |
Het |
| Exoc8 |
T |
C |
8: 125,622,952 (GRCm39) |
T472A |
probably benign |
Het |
| Fancc |
A |
G |
13: 63,469,679 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,852,733 (GRCm39) |
M1340K |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,604,064 (GRCm39) |
L244P |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,831 (GRCm39) |
N424S |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,875 (GRCm39) |
D261G |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,720,192 (GRCm39) |
I272L |
probably benign |
Het |
| Lpcat3 |
A |
G |
6: 124,676,357 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,236 (GRCm39) |
D304G |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,774,008 (GRCm39) |
I5540V |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,970,563 (GRCm39) |
S231G |
probably benign |
Het |
| Mup8 |
G |
A |
4: 60,221,062 (GRCm39) |
T101M |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,179,179 (GRCm39) |
I524T |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,589,189 (GRCm39) |
C1679R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,416 (GRCm39) |
S456P |
possibly damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,719 (GRCm39) |
N389S |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,617,507 (GRCm39) |
S620R |
probably benign |
Het |
| Plod3 |
T |
A |
5: 137,023,932 (GRCm39) |
|
probably benign |
Het |
| Por |
A |
T |
5: 135,759,771 (GRCm39) |
Q194L |
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,780,646 (GRCm39) |
Y396N |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,935,053 (GRCm39) |
|
probably null |
Het |
| Rcan3 |
C |
T |
4: 135,152,592 (GRCm39) |
S43N |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,111,098 (GRCm39) |
T31A |
probably damaging |
Het |
| Rnps1 |
T |
G |
17: 24,637,486 (GRCm39) |
S43A |
unknown |
Het |
| Rp1 |
T |
C |
1: 4,416,426 (GRCm39) |
D1562G |
possibly damaging |
Het |
| Rps19-ps13 |
A |
G |
18: 40,859,428 (GRCm39) |
|
noncoding transcript |
Het |
| Serpina3c |
A |
T |
12: 104,115,771 (GRCm39) |
S258T |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,460,181 (GRCm39) |
R519Q |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,787,885 (GRCm39) |
T955A |
probably benign |
Het |
| Stfa3 |
T |
C |
16: 36,272,581 (GRCm39) |
K40E |
probably damaging |
Het |
| Tmem87b |
A |
G |
2: 128,666,378 (GRCm39) |
E75G |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,800,298 (GRCm39) |
Q595R |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
| Trat1 |
T |
C |
16: 48,555,300 (GRCm39) |
D144G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,358 (GRCm39) |
V15A |
probably benign |
Het |
| Tulp1 |
A |
C |
17: 28,578,034 (GRCm39) |
|
probably null |
Het |
| Txndc15 |
T |
A |
13: 55,865,734 (GRCm39) |
M66K |
probably benign |
Het |
| Vmn1r206 |
T |
A |
13: 22,804,775 (GRCm39) |
N144I |
probably damaging |
Het |
| Wwc2 |
T |
C |
8: 48,353,796 (GRCm39) |
T113A |
probably benign |
Het |
| Xpo5 |
A |
C |
17: 46,528,535 (GRCm39) |
E313D |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
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 |
|
|
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'- TCAGAGCTTGGACATGACGC -3'
(R):5'- TCTGGGTGCTAACTGAAGGC -3'
Sequencing Primer
(F):5'- GTTATCCACAGGAGTGTTCACAGAC -3'
(R):5'- TGCTAACTGAAGGCTGAAGGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation