Incidental Mutation 'R6990:Bltp3b'
ID |
543207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bltp3b
|
Ensembl Gene |
ENSMUSG00000019951 |
Gene Name |
bridge-like lipid transfer protein family member 3B |
Synonyms |
Uhrf1bp1l, 2010319N22Rik, E030041M21Rik, 4930506D01Rik |
MMRRC Submission |
045096-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.415)
|
Stock # |
R6990 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
89580853-89655733 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89641979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1050
(D1050G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020112]
[ENSMUST00000218607]
[ENSMUST00000220375]
|
AlphaFold |
A2RSJ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020112
AA Change: D1050G
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000020112 Gene: ENSMUSG00000019951 AA Change: D1050G
Domain | Start | End | E-Value | Type |
Pfam:Chorein_N
|
1 |
103 |
9.3e-21 |
PFAM |
SCOP:d1c52__
|
243 |
304 |
5e-3 |
SMART |
low complexity region
|
788 |
801 |
N/A |
INTRINSIC |
low complexity region
|
862 |
872 |
N/A |
INTRINSIC |
coiled coil region
|
1410 |
1455 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218607
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218776
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220375
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
G |
10: 78,902,925 (GRCm39) |
T464P |
probably damaging |
Het |
Abca16 |
A |
G |
7: 120,126,950 (GRCm39) |
I1214V |
probably benign |
Het |
Arap2 |
A |
G |
5: 62,833,860 (GRCm39) |
F869S |
probably damaging |
Het |
Astn2 |
G |
T |
4: 65,910,540 (GRCm39) |
H431N |
possibly damaging |
Het |
Bap1 |
A |
G |
14: 30,977,608 (GRCm39) |
T308A |
probably benign |
Het |
Bcr |
G |
A |
10: 74,966,868 (GRCm39) |
E492K |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,229,501 (GRCm39) |
F444L |
probably damaging |
Het |
Chd7 |
A |
T |
4: 8,844,525 (GRCm39) |
T1545S |
probably benign |
Het |
Dnmt1 |
A |
T |
9: 20,827,110 (GRCm39) |
Y877* |
probably null |
Het |
Fam13b |
A |
G |
18: 34,630,500 (GRCm39) |
V86A |
possibly damaging |
Het |
Gm11562 |
T |
A |
11: 99,510,817 (GRCm39) |
R128W |
unknown |
Het |
Krt86 |
A |
G |
15: 101,371,714 (GRCm39) |
I95V |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,942,284 (GRCm39) |
T349A |
possibly damaging |
Het |
Ms4a7 |
A |
T |
19: 11,310,605 (GRCm39) |
L38Q |
probably damaging |
Het |
Myo1h |
T |
C |
5: 114,468,221 (GRCm39) |
S339P |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,749,944 (GRCm39) |
I46V |
probably benign |
Het |
Nr1h4 |
T |
C |
10: 89,290,792 (GRCm39) |
D416G |
probably benign |
Het |
Oga |
G |
A |
19: 45,755,915 (GRCm39) |
A576V |
probably benign |
Het |
Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
Or4p18 |
A |
G |
2: 88,232,639 (GRCm39) |
M213T |
probably benign |
Het |
Pde1c |
C |
G |
6: 56,419,020 (GRCm39) |
E87Q |
possibly damaging |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pga5 |
A |
T |
19: 10,646,779 (GRCm39) |
D317E |
probably benign |
Het |
Pira2 |
T |
A |
7: 3,844,067 (GRCm39) |
K568N |
probably damaging |
Het |
Ppp2cb |
A |
G |
8: 34,109,161 (GRCm39) |
D290G |
probably benign |
Het |
Sall4 |
T |
C |
2: 168,596,990 (GRCm39) |
K617E |
probably damaging |
Het |
Slc7a14 |
G |
A |
3: 31,277,728 (GRCm39) |
P626S |
possibly damaging |
Het |
Speer4b |
A |
T |
5: 27,702,076 (GRCm39) |
L228* |
probably null |
Het |
Spns2 |
T |
C |
11: 72,380,447 (GRCm39) |
T59A |
probably benign |
Het |
Tbc1d5 |
A |
T |
17: 51,275,260 (GRCm39) |
N78K |
probably benign |
Het |
Tmem63a |
T |
C |
1: 180,788,686 (GRCm39) |
V341A |
probably benign |
Het |
Trpt1 |
A |
G |
19: 6,975,683 (GRCm39) |
T146A |
probably benign |
Het |
Tyrp1 |
T |
C |
4: 80,753,674 (GRCm39) |
C122R |
probably damaging |
Het |
Uchl1 |
A |
G |
5: 66,839,818 (GRCm39) |
E120G |
possibly damaging |
Het |
Ucn3 |
C |
T |
13: 3,991,295 (GRCm39) |
R119Q |
possibly damaging |
Het |
Vmn2r2 |
T |
G |
3: 64,024,608 (GRCm39) |
I658L |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,804,082 (GRCm39) |
V444E |
probably benign |
Het |
Wdr54 |
A |
C |
6: 83,132,629 (GRCm39) |
|
probably null |
Het |
Xcr1 |
A |
G |
9: 123,685,300 (GRCm39) |
L154P |
probably benign |
Het |
Zbtb26 |
T |
C |
2: 37,326,557 (GRCm39) |
K160E |
probably benign |
Het |
Zfp157 |
T |
G |
5: 138,454,772 (GRCm39) |
Y323* |
probably null |
Het |
Zfp850 |
A |
T |
7: 27,689,801 (GRCm39) |
F136I |
probably benign |
Het |
|
Other mutations in Bltp3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Bltp3b
|
APN |
10 |
89,615,846 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01102:Bltp3b
|
APN |
10 |
89,627,240 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01457:Bltp3b
|
APN |
10 |
89,641,624 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01647:Bltp3b
|
APN |
10 |
89,609,982 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02552:Bltp3b
|
APN |
10 |
89,642,605 (GRCm39) |
nonsense |
probably null |
|
IGL02686:Bltp3b
|
APN |
10 |
89,641,055 (GRCm39) |
missense |
probably benign |
|
miscreant
|
UTSW |
10 |
89,615,825 (GRCm39) |
missense |
probably damaging |
0.97 |
scofflaw
|
UTSW |
10 |
89,641,546 (GRCm39) |
missense |
probably benign |
0.01 |
R0019:Bltp3b
|
UTSW |
10 |
89,611,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R0505:Bltp3b
|
UTSW |
10 |
89,627,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R0746:Bltp3b
|
UTSW |
10 |
89,641,316 (GRCm39) |
missense |
probably benign |
0.37 |
R1255:Bltp3b
|
UTSW |
10 |
89,581,132 (GRCm39) |
missense |
probably damaging |
0.98 |
R1385:Bltp3b
|
UTSW |
10 |
89,626,503 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1720:Bltp3b
|
UTSW |
10 |
89,618,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R2142:Bltp3b
|
UTSW |
10 |
89,647,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R2312:Bltp3b
|
UTSW |
10 |
89,616,995 (GRCm39) |
missense |
probably damaging |
0.99 |
R2986:Bltp3b
|
UTSW |
10 |
89,641,931 (GRCm39) |
missense |
probably benign |
0.00 |
R4063:Bltp3b
|
UTSW |
10 |
89,651,917 (GRCm39) |
missense |
probably benign |
0.38 |
R4278:Bltp3b
|
UTSW |
10 |
89,642,571 (GRCm39) |
splice site |
probably null |
|
R4854:Bltp3b
|
UTSW |
10 |
89,630,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R4857:Bltp3b
|
UTSW |
10 |
89,615,825 (GRCm39) |
missense |
probably damaging |
0.97 |
R5135:Bltp3b
|
UTSW |
10 |
89,625,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R5467:Bltp3b
|
UTSW |
10 |
89,640,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R5567:Bltp3b
|
UTSW |
10 |
89,644,383 (GRCm39) |
missense |
probably benign |
0.18 |
R5767:Bltp3b
|
UTSW |
10 |
89,623,061 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6191:Bltp3b
|
UTSW |
10 |
89,641,180 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6196:Bltp3b
|
UTSW |
10 |
89,641,195 (GRCm39) |
missense |
probably benign |
0.00 |
R6387:Bltp3b
|
UTSW |
10 |
89,638,919 (GRCm39) |
nonsense |
probably null |
|
R6729:Bltp3b
|
UTSW |
10 |
89,641,546 (GRCm39) |
missense |
probably benign |
0.01 |
R6746:Bltp3b
|
UTSW |
10 |
89,623,020 (GRCm39) |
missense |
probably benign |
0.19 |
R6794:Bltp3b
|
UTSW |
10 |
89,641,624 (GRCm39) |
missense |
probably benign |
0.06 |
R6892:Bltp3b
|
UTSW |
10 |
89,640,985 (GRCm39) |
missense |
probably benign |
0.02 |
R7188:Bltp3b
|
UTSW |
10 |
89,615,744 (GRCm39) |
missense |
probably damaging |
0.96 |
R7226:Bltp3b
|
UTSW |
10 |
89,644,503 (GRCm39) |
missense |
probably benign |
0.00 |
R7376:Bltp3b
|
UTSW |
10 |
89,645,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R7836:Bltp3b
|
UTSW |
10 |
89,651,968 (GRCm39) |
missense |
probably benign |
0.00 |
R8188:Bltp3b
|
UTSW |
10 |
89,647,928 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8343:Bltp3b
|
UTSW |
10 |
89,627,281 (GRCm39) |
missense |
probably benign |
|
R8356:Bltp3b
|
UTSW |
10 |
89,647,954 (GRCm39) |
missense |
probably benign |
0.00 |
R8367:Bltp3b
|
UTSW |
10 |
89,641,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R8391:Bltp3b
|
UTSW |
10 |
89,645,605 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8456:Bltp3b
|
UTSW |
10 |
89,647,954 (GRCm39) |
missense |
probably benign |
0.00 |
R8546:Bltp3b
|
UTSW |
10 |
89,630,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R8728:Bltp3b
|
UTSW |
10 |
89,618,582 (GRCm39) |
missense |
probably benign |
0.00 |
R8816:Bltp3b
|
UTSW |
10 |
89,626,597 (GRCm39) |
critical splice donor site |
probably benign |
|
R9138:Bltp3b
|
UTSW |
10 |
89,615,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R9220:Bltp3b
|
UTSW |
10 |
89,626,457 (GRCm39) |
missense |
probably benign |
0.29 |
R9649:Bltp3b
|
UTSW |
10 |
89,626,593 (GRCm39) |
missense |
probably benign |
0.32 |
R9701:Bltp3b
|
UTSW |
10 |
89,615,755 (GRCm39) |
missense |
probably benign |
|
R9720:Bltp3b
|
UTSW |
10 |
89,641,219 (GRCm39) |
missense |
probably benign |
0.22 |
R9802:Bltp3b
|
UTSW |
10 |
89,615,755 (GRCm39) |
missense |
probably benign |
|
X0060:Bltp3b
|
UTSW |
10 |
89,641,241 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Bltp3b
|
UTSW |
10 |
89,647,934 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCAGGAGAAATGACCTCAG -3'
(R):5'- CCTGACAATGCCACACTTTG -3'
Sequencing Primer
(F):5'- CCTCAGAAGGGAGTCACACAAAG -3'
(R):5'- AATGCCACACTTTGTCCTGAGG -3'
|
Posted On |
2018-11-28 |