Incidental Mutation 'R6331:Bltp3a'
ID |
510942 |
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 |
044485-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6331 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28112175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1150
(I1150T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114849]
|
AlphaFold |
B2KF50 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114849
AA Change: I1150T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000110499 Gene: ENSMUSG00000039512 AA Change: I1150T
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,529,199 (GRCm39) |
D981G |
probably damaging |
Het |
Abcc1 |
C |
A |
16: 14,282,920 (GRCm39) |
A1132D |
probably damaging |
Het |
Adamts12 |
A |
G |
15: 11,241,519 (GRCm39) |
T364A |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,983,989 (GRCm39) |
M1758L |
probably benign |
Het |
Ak9 |
T |
C |
10: 41,258,825 (GRCm39) |
V774A |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,915,172 (GRCm39) |
E1934G |
probably benign |
Het |
Atp2b2 |
C |
T |
6: 113,774,092 (GRCm39) |
A341T |
probably benign |
Het |
Bach2 |
G |
T |
4: 32,238,816 (GRCm39) |
|
probably benign |
Het |
Brd10 |
C |
T |
19: 29,695,147 (GRCm39) |
V1449I |
probably benign |
Het |
Ccdc102a |
T |
C |
8: 95,638,144 (GRCm39) |
T241A |
probably benign |
Het |
Chd5 |
G |
T |
4: 152,466,865 (GRCm39) |
R1627S |
probably benign |
Het |
Clint1 |
T |
C |
11: 45,785,908 (GRCm39) |
S322P |
probably benign |
Het |
Dapk1 |
T |
A |
13: 60,877,256 (GRCm39) |
C498* |
probably null |
Het |
Diaph3 |
T |
G |
14: 87,103,976 (GRCm39) |
S803R |
probably damaging |
Het |
Dmp1 |
T |
C |
5: 104,354,991 (GRCm39) |
L10P |
probably damaging |
Het |
Gcc2 |
T |
C |
10: 58,107,287 (GRCm39) |
V741A |
probably benign |
Het |
Gldn |
A |
G |
9: 54,194,162 (GRCm39) |
M119V |
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,941,718 (GRCm39) |
S574P |
possibly damaging |
Het |
Hapln4 |
T |
A |
8: 70,537,073 (GRCm39) |
|
probably benign |
Het |
Hars1 |
A |
G |
18: 36,904,385 (GRCm39) |
V209A |
probably benign |
Het |
Htt |
T |
A |
5: 35,053,231 (GRCm39) |
F2521L |
possibly damaging |
Het |
Kif14 |
A |
G |
1: 136,443,724 (GRCm39) |
D1299G |
probably null |
Het |
Krt25 |
T |
A |
11: 99,208,253 (GRCm39) |
E325V |
probably damaging |
Het |
Lcmt1 |
T |
C |
7: 122,977,405 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,693,221 (GRCm39) |
N3266K |
probably damaging |
Het |
Mctp1 |
T |
A |
13: 77,168,982 (GRCm39) |
|
probably null |
Het |
Mtarc2 |
A |
G |
1: 184,551,525 (GRCm39) |
S304P |
probably damaging |
Het |
Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
Myom3 |
A |
G |
4: 135,503,688 (GRCm39) |
N379S |
possibly damaging |
Het |
Nbea |
A |
T |
3: 55,908,037 (GRCm39) |
D1358E |
possibly damaging |
Het |
Nod1 |
T |
C |
6: 54,901,968 (GRCm39) |
E939G |
probably damaging |
Het |
Obox1 |
A |
G |
7: 15,289,294 (GRCm39) |
R70G |
probably benign |
Het |
Or13c25 |
A |
G |
4: 52,911,399 (GRCm39) |
Y132H |
probably damaging |
Het |
Or13p3 |
A |
G |
4: 118,567,144 (GRCm39) |
E180G |
probably benign |
Het |
Or4a2 |
C |
T |
2: 89,248,695 (GRCm39) |
G21S |
probably benign |
Het |
Or5m12 |
T |
C |
2: 85,734,560 (GRCm39) |
I279M |
probably benign |
Het |
Otof |
T |
C |
5: 30,529,279 (GRCm39) |
D1745G |
possibly damaging |
Het |
Pklr |
A |
G |
3: 89,044,662 (GRCm39) |
I47V |
probably damaging |
Het |
Pms2 |
T |
A |
5: 143,851,451 (GRCm39) |
S123T |
possibly damaging |
Het |
Pnpla2 |
T |
C |
7: 141,039,198 (GRCm39) |
S337P |
probably damaging |
Het |
Ptgfrn |
A |
C |
3: 100,952,936 (GRCm39) |
V766G |
possibly damaging |
Het |
Ptpn11 |
T |
A |
5: 121,282,716 (GRCm39) |
H419L |
probably damaging |
Het |
Rims3 |
T |
A |
4: 120,740,350 (GRCm39) |
V99E |
probably damaging |
Het |
Rmc1 |
G |
A |
18: 12,313,571 (GRCm39) |
R228H |
probably damaging |
Het |
Samd9l |
A |
G |
6: 3,376,361 (GRCm39) |
V300A |
probably damaging |
Het |
Sdad1 |
T |
C |
5: 92,451,789 (GRCm39) |
D144G |
probably damaging |
Het |
Siglecg |
T |
C |
7: 43,058,178 (GRCm39) |
Y22H |
possibly damaging |
Het |
Slc39a1 |
A |
G |
3: 90,159,588 (GRCm39) |
K305R |
possibly damaging |
Het |
Slc5a4a |
A |
G |
10: 76,014,034 (GRCm39) |
R414G |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,753,500 (GRCm39) |
|
probably benign |
Het |
Tbc1d9b |
C |
T |
11: 50,022,324 (GRCm39) |
A20V |
possibly damaging |
Het |
Tgfb3 |
G |
T |
12: 86,110,638 (GRCm39) |
D237E |
probably benign |
Het |
Tle6 |
A |
G |
10: 81,431,073 (GRCm39) |
S234P |
probably benign |
Het |
Tnrc6b |
A |
G |
15: 80,763,815 (GRCm39) |
N439S |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,248,925 (GRCm39) |
S783P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,632,698 (GRCm39) |
Y12373N |
probably damaging |
Het |
Tube1 |
G |
A |
10: 39,010,097 (GRCm39) |
V7I |
probably benign |
Het |
Tufm |
T |
C |
7: 126,088,410 (GRCm39) |
V265A |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,877,402 (GRCm39) |
H1550R |
possibly damaging |
Het |
Usp33 |
A |
T |
3: 152,081,887 (GRCm39) |
M546L |
probably damaging |
Het |
Uspl1 |
C |
A |
5: 149,151,097 (GRCm39) |
Q752K |
probably benign |
Het |
Vmn1r20 |
A |
G |
6: 57,408,655 (GRCm39) |
|
probably null |
Het |
Vmn1r201 |
T |
C |
13: 22,659,521 (GRCm39) |
F245S |
probably damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,186,182 (GRCm39) |
S168P |
probably damaging |
Het |
Wdr24 |
T |
G |
17: 26,044,650 (GRCm39) |
D168E |
possibly damaging |
Het |
Zfp646 |
C |
T |
7: 127,482,853 (GRCm39) |
P1677S |
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 |
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 |
|
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'- AATCCATCAGCTCTCTGGTTCG -3'
(R):5'- AAGTGATACTTCGTTCACCTTCAAG -3'
Sequencing Primer
(F):5'- ATCAGCTCTCTGGTTCGCTTATTTG -3'
(R):5'- ACACCTGTCGGAAGAGATTGCC -3'
|
Posted On |
2018-04-02 |