Incidental Mutation 'R6729:Bltp3b'
ID |
529980 |
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 |
044847-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.415)
|
Stock # |
R6729 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
89580853-89655733 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89641546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 906
(S906T)
|
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: S906T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000020112 Gene: ENSMUSG00000019951 AA Change: S906T
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 |
noncoding transcript
Transcript: ENSMUST00000219117
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219749
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220375
|
Meta Mutation Damage Score |
0.0596 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
A |
T |
5: 121,745,998 (GRCm39) |
H230Q |
probably damaging |
Het |
AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
Ank3 |
T |
C |
10: 69,644,755 (GRCm39) |
V73A |
probably damaging |
Het |
Apbb1 |
A |
T |
7: 105,214,588 (GRCm39) |
M28K |
probably damaging |
Het |
Atp6v1f |
A |
G |
6: 29,467,964 (GRCm39) |
D50G |
probably benign |
Het |
Cdkal1 |
G |
A |
13: 29,658,678 (GRCm39) |
T356M |
probably damaging |
Het |
Clca3a1 |
A |
G |
3: 144,711,727 (GRCm39) |
I756T |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,218,085 (GRCm39) |
|
probably null |
Het |
Cyp17a1 |
A |
G |
19: 46,659,020 (GRCm39) |
V207A |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,711,681 (GRCm39) |
E2636G |
possibly damaging |
Het |
Gm13090 |
A |
T |
4: 151,174,085 (GRCm39) |
|
probably benign |
Het |
Nceh1 |
T |
A |
3: 27,295,420 (GRCm39) |
L227* |
probably null |
Het |
Nedd9 |
A |
G |
13: 41,469,278 (GRCm39) |
M625T |
probably damaging |
Het |
Or10n1 |
A |
T |
9: 39,525,069 (GRCm39) |
M69L |
probably benign |
Het |
Or4d1 |
G |
A |
11: 87,805,676 (GRCm39) |
Q19* |
probably null |
Het |
Or4d10c |
T |
A |
19: 12,065,860 (GRCm39) |
M99L |
probably benign |
Het |
Or8b53 |
A |
G |
9: 38,667,124 (GRCm39) |
I47V |
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,160,935 (GRCm39) |
N297S |
probably damaging |
Het |
Psg21 |
T |
A |
7: 18,386,516 (GRCm39) |
I157F |
probably damaging |
Het |
Rabep2 |
T |
C |
7: 126,039,369 (GRCm39) |
V294A |
probably benign |
Het |
Rsph1 |
A |
G |
17: 31,496,226 (GRCm39) |
S2P |
unknown |
Het |
Sacs |
A |
G |
14: 61,447,967 (GRCm39) |
K3338E |
probably damaging |
Het |
Slc35f4 |
T |
G |
14: 49,556,417 (GRCm39) |
N112T |
probably benign |
Het |
Slc43a3 |
T |
C |
2: 84,768,629 (GRCm39) |
F83L |
probably damaging |
Het |
Slc6a15 |
T |
C |
10: 103,229,775 (GRCm39) |
V154A |
probably damaging |
Het |
Synj2 |
T |
A |
17: 6,036,289 (GRCm39) |
M1K |
probably null |
Het |
Tcp1 |
G |
A |
17: 13,142,140 (GRCm39) |
R378Q |
probably damaging |
Het |
Tead2 |
A |
G |
7: 44,866,658 (GRCm39) |
T6A |
probably benign |
Het |
Tpte |
G |
T |
8: 22,845,491 (GRCm39) |
V514L |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,807,661 (GRCm39) |
N1069D |
probably damaging |
Het |
Vmn2r105 |
C |
A |
17: 20,428,605 (GRCm39) |
G824C |
probably damaging |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zfp934 |
A |
T |
13: 62,640,746 (GRCm39) |
N2K |
probably damaging |
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 |
|
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 |
R6990:Bltp3b
|
UTSW |
10 |
89,641,979 (GRCm39) |
missense |
probably benign |
0.12 |
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'- AAGCTGTGATTGGAAGCCCC -3'
(R):5'- CACTCTTGTGAGAAAGTCCACTAC -3'
Sequencing Primer
(F):5'- AGCCCCGCTTCCCAGAC -3'
(R):5'- GATAAGTAGTCTAGAAAAGAAGTGCC -3'
|
Posted On |
2018-08-01 |