Incidental Mutation 'R4575:Bltp3a'
ID |
342425 |
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 |
041798-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4575 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28106477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1001
(V1001A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114849]
|
AlphaFold |
B2KF50 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114849
AA Change: V1001A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000110499 Gene: ENSMUSG00000039512 AA Change: V1001A
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
C |
T |
7: 130,964,325 (GRCm39) |
A26T |
probably benign |
Het |
4930408O17Rik |
C |
A |
12: 104,837,527 (GRCm39) |
|
noncoding transcript |
Het |
Adgrf3 |
T |
A |
5: 30,407,255 (GRCm39) |
M224L |
probably benign |
Het |
Ago3 |
T |
C |
4: 126,240,475 (GRCm39) |
H129R |
probably benign |
Het |
Aoc1l1 |
C |
T |
6: 48,954,502 (GRCm39) |
Q547* |
probably null |
Het |
Asb10 |
C |
T |
5: 24,745,052 (GRCm39) |
R99H |
probably damaging |
Het |
Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
Ccdc96 |
T |
C |
5: 36,643,419 (GRCm39) |
V475A |
possibly damaging |
Het |
Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
Clec4b2 |
T |
A |
6: 123,150,639 (GRCm39) |
L16Q |
probably damaging |
Het |
Cyp2c68 |
T |
A |
19: 39,722,805 (GRCm39) |
I248L |
probably benign |
Het |
Cyp2d22 |
G |
T |
15: 82,256,133 (GRCm39) |
A167E |
possibly damaging |
Het |
Dpysl3 |
T |
C |
18: 43,475,312 (GRCm39) |
K382R |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,626,823 (GRCm39) |
I362T |
possibly damaging |
Het |
Edil3 |
T |
C |
13: 89,467,850 (GRCm39) |
Y452H |
probably damaging |
Het |
Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
Fgd4 |
T |
C |
16: 16,254,896 (GRCm39) |
Q507R |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,342,704 (GRCm39) |
T1666A |
probably benign |
Het |
Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
Gabrr1 |
C |
T |
4: 33,158,175 (GRCm39) |
T266I |
possibly damaging |
Het |
Gm11563 |
G |
A |
11: 99,549,275 (GRCm39) |
P160S |
unknown |
Het |
Gm12790 |
T |
C |
4: 101,825,324 (GRCm39) |
D30G |
probably benign |
Het |
Haus8 |
A |
G |
8: 71,715,736 (GRCm39) |
V34A |
probably damaging |
Het |
Hgf |
T |
C |
5: 16,777,599 (GRCm39) |
Y199H |
probably benign |
Het |
Ide |
G |
A |
19: 37,249,604 (GRCm39) |
P916L |
unknown |
Het |
Igsf10 |
G |
T |
3: 59,237,521 (GRCm39) |
H887N |
probably benign |
Het |
Iigp1 |
A |
T |
18: 60,523,218 (GRCm39) |
H112L |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,082,095 (GRCm39) |
E1009G |
probably damaging |
Het |
Khdc1a |
A |
C |
1: 21,420,653 (GRCm39) |
D91A |
probably damaging |
Het |
Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
Kprp |
T |
C |
3: 92,731,271 (GRCm39) |
N593S |
probably benign |
Het |
Krt1c |
T |
G |
15: 101,722,921 (GRCm39) |
D359A |
probably damaging |
Het |
Krt35 |
A |
T |
11: 99,986,725 (GRCm39) |
N96K |
probably benign |
Het |
Lnx1 |
T |
C |
5: 74,846,204 (GRCm39) |
D82G |
probably damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Nfib |
A |
T |
4: 82,215,048 (GRCm39) |
S518R |
probably damaging |
Het |
Nol6 |
T |
C |
4: 41,120,299 (GRCm39) |
I473V |
probably benign |
Het |
Obscn |
T |
C |
11: 59,013,598 (GRCm39) |
D1108G |
probably damaging |
Het |
Or52m2 |
A |
T |
7: 102,263,976 (GRCm39) |
C73* |
probably null |
Het |
Or7g12 |
C |
A |
9: 18,900,001 (GRCm39) |
S239* |
probably null |
Het |
Otop1 |
T |
C |
5: 38,457,065 (GRCm39) |
Y275H |
probably damaging |
Het |
Ppp1r14c |
G |
T |
10: 3,316,912 (GRCm39) |
K82N |
probably damaging |
Het |
Prr14l |
T |
C |
5: 32,950,988 (GRCm39) |
E1935G |
probably damaging |
Het |
Ptprd |
C |
T |
4: 76,162,023 (GRCm39) |
V78I |
possibly damaging |
Het |
Rfc4 |
T |
A |
16: 22,933,179 (GRCm39) |
|
probably benign |
Het |
Rpn2 |
C |
A |
2: 157,137,244 (GRCm39) |
A209E |
probably damaging |
Het |
Sf1 |
T |
C |
19: 6,425,943 (GRCm39) |
|
probably benign |
Het |
Sft2d1rt |
T |
C |
11: 45,942,679 (GRCm39) |
D148G |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,524,390 (GRCm39) |
S864C |
unknown |
Het |
Slc2a10 |
C |
G |
2: 165,358,241 (GRCm39) |
N455K |
probably damaging |
Het |
Snrnp200 |
T |
A |
2: 127,076,986 (GRCm39) |
I1673N |
probably benign |
Het |
Sri |
G |
T |
5: 8,113,693 (GRCm39) |
G152W |
probably damaging |
Het |
Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
Vmn2r125 |
T |
A |
4: 156,702,272 (GRCm39) |
D19E |
probably null |
Het |
Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly 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 |
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'- GAAGTCTGATGCCTCCTCAGAC -3'
(R):5'- CATCTTGTGCATGGTAGAAGTC -3'
Sequencing Primer
(F):5'- TAAGCCCCGAGAAGGTGCTG -3'
(R):5'- GCATGGTAGAAGTCATTCGATCTCTC -3'
|
Posted On |
2015-09-24 |