Incidental Mutation 'R1255:Bltp3b'
| ID |
151423 |
| 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 |
039322-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.399)
|
| Stock # |
R1255 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
89580853-89655733 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89581132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 9
(I9T)
|
| 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: I9T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020112
Gene: ENSMUSG00000019951
AA Change: I9T
| 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 |
possibly damaging
Transcript: ENSMUST00000219712
AA Change: I9T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220375
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,807,016 (GRCm39) |
S21C |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acsf3 |
T |
C |
8: 123,512,705 (GRCm39) |
|
probably null |
Het |
| Aff3 |
A |
T |
1: 38,243,965 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
A |
T |
5: 98,123,231 (GRCm39) |
I272N |
probably benign |
Het |
| Asphd2 |
A |
C |
5: 112,539,677 (GRCm39) |
V52G |
probably damaging |
Het |
| Atxn3 |
T |
A |
12: 101,900,593 (GRCm39) |
Q230L |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Ciz1 |
T |
A |
2: 32,255,888 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
A |
T |
6: 148,943,148 (GRCm39) |
M576K |
possibly damaging |
Het |
| Ebf3 |
C |
T |
7: 136,826,941 (GRCm39) |
V315I |
probably benign |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Gimap1 |
T |
A |
6: 48,719,940 (GRCm39) |
V184E |
probably benign |
Het |
| Gtf2f1 |
A |
G |
17: 57,317,982 (GRCm39) |
V18A |
probably damaging |
Het |
| Kcnn3 |
A |
T |
3: 89,559,416 (GRCm39) |
D562V |
possibly damaging |
Het |
| Kif20b |
A |
G |
19: 34,927,506 (GRCm39) |
T883A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,151 (GRCm39) |
L1198Q |
probably damaging |
Het |
| Nipal2 |
T |
C |
15: 34,584,828 (GRCm39) |
I247V |
probably benign |
Het |
| Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
| Rad51ap2 |
G |
T |
12: 11,508,095 (GRCm39) |
K672N |
possibly damaging |
Het |
| Rbm28 |
C |
T |
6: 29,158,246 (GRCm39) |
G155D |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,382,366 (GRCm39) |
M701K |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,260,974 (GRCm39) |
L142Q |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,569,275 (GRCm39) |
N207K |
probably benign |
Het |
| Son |
T |
A |
16: 91,461,583 (GRCm39) |
V205E |
probably damaging |
Het |
| Spz1 |
C |
A |
13: 92,712,138 (GRCm39) |
V113F |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,120 (GRCm39) |
T336A |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,538,044 (GRCm39) |
D1852G |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zfp729a |
T |
C |
13: 67,769,965 (GRCm39) |
E88G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCTGAGAGTGATCTCTCCGGC -3'
(R):5'- CGATGCGGGACTGAAAACGACTTC -3'
Sequencing Primer
(F):5'- GTGATCTCTCCGGCGCTTC -3'
(R):5'- AGGTTAACGTTTCACTGGCAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation