Incidental Mutation 'IGL00493:Bltp3b'
| ID |
6095 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bltp3b
|
| Ensembl Gene |
ENSMUSG00000019951 |
| Gene Name |
bridge-like lipid transfer protein family member 3B |
| Synonyms |
Uhrf1bp1l, 2010319N22Rik, E030041M21Rik, 4930506D01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.415)
|
| Stock # |
IGL00493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
89580853-89655733 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 89615846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 163
(D163A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020112]
[ENSMUST00000219712]
[ENSMUST00000220375]
|
| AlphaFold |
A2RSJ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020112
AA Change: D163A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020112
Gene: ENSMUSG00000019951
AA Change: D163A
| 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: ENSMUST00000219712
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220375
AA Change: D75A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
G |
13: 8,751,761 (GRCm39) |
T509A |
probably benign |
Het |
| Arhgap23 |
T |
C |
11: 97,337,379 (GRCm39) |
|
probably null |
Het |
| Astn1 |
A |
T |
1: 158,427,889 (GRCm39) |
I687F |
possibly damaging |
Het |
| Atg4d |
T |
C |
9: 21,178,217 (GRCm39) |
F112L |
probably damaging |
Het |
| Cd200 |
T |
A |
16: 45,217,409 (GRCm39) |
D94V |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,194,359 (GRCm39) |
K2285R |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,521,745 (GRCm39) |
I426N |
probably damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,751,659 (GRCm39) |
V483E |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,126,915 (GRCm39) |
A932V |
possibly damaging |
Het |
| Dlc1 |
A |
T |
8: 37,037,436 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,578,009 (GRCm39) |
I138V |
possibly damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,506 (GRCm39) |
V349A |
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,122,127 (GRCm39) |
E523* |
probably null |
Het |
| Ift70a1 |
C |
A |
2: 75,812,085 (GRCm39) |
|
probably benign |
Het |
| Krt6a |
T |
G |
15: 101,601,229 (GRCm39) |
K241N |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,307,011 (GRCm39) |
S375G |
probably benign |
Het |
| Meikin |
C |
T |
11: 54,289,320 (GRCm39) |
P231L |
probably damaging |
Het |
| Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
| Mvk |
G |
A |
5: 114,583,502 (GRCm39) |
V14I |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,199,754 (GRCm39) |
S1021L |
probably damaging |
Het |
| N4bp2l2 |
G |
A |
5: 150,585,401 (GRCm39) |
T193M |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,367,279 (GRCm39) |
D272E |
probably damaging |
Het |
| Nptn |
T |
A |
9: 58,550,922 (GRCm39) |
N316K |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,151,324 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,327,671 (GRCm39) |
I850L |
probably damaging |
Het |
| Rdm1 |
T |
G |
11: 101,526,580 (GRCm39) |
C251G |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,624,324 (GRCm39) |
|
probably benign |
Het |
| Rps6kl1 |
G |
A |
12: 85,186,157 (GRCm39) |
P291L |
probably benign |
Het |
| Sel1l |
A |
G |
12: 91,781,387 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
C |
13: 33,277,850 (GRCm39) |
F361S |
probably damaging |
Het |
| Sirpb1a |
G |
A |
3: 15,475,788 (GRCm39) |
|
probably benign |
Het |
| Smpd1 |
T |
G |
7: 105,205,848 (GRCm39) |
V405G |
probably damaging |
Het |
| Spmip11 |
T |
C |
15: 98,486,425 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
T |
C |
17: 28,551,780 (GRCm39) |
T438A |
possibly damaging |
Het |
| Treh |
A |
T |
9: 44,595,197 (GRCm39) |
D89V |
probably damaging |
Het |
| Trim10 |
A |
T |
17: 37,188,140 (GRCm39) |
H452L |
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,073,817 (GRCm39) |
C181R |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,230,101 (GRCm39) |
F277I |
possibly damaging |
Het |
| Zswim4 |
T |
G |
8: 84,938,769 (GRCm39) |
T1038P |
probably damaging |
Het |
|
| Other mutations in Bltp3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation