Incidental Mutation 'R7188:Bltp3b'
| ID |
559434 |
| 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 |
045272-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.415)
|
| Stock # |
R7188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
89580853-89655733 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89615744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 129
(V129A)
|
| 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: V129A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020112
Gene: ENSMUSG00000019951
AA Change: V129A
| 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: V41A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,554,600 (GRCm39) |
Y118C |
possibly damaging |
Het |
| Abcb6 |
A |
G |
1: 75,150,781 (GRCm39) |
|
probably null |
Het |
| Acox2 |
T |
A |
14: 8,252,996 (GRCm38) |
I236L |
possibly damaging |
Het |
| Adamts12 |
A |
T |
15: 11,336,411 (GRCm39) |
K1499* |
probably null |
Het |
| Ankrd24 |
G |
T |
10: 81,472,224 (GRCm39) |
E20* |
probably null |
Het |
| Arsa |
A |
T |
15: 89,359,830 (GRCm39) |
Y32* |
probably null |
Het |
| Atp9b |
A |
G |
18: 80,961,041 (GRCm39) |
S57P |
|
Het |
| Atr |
G |
T |
9: 95,744,844 (GRCm39) |
E54* |
probably null |
Het |
| Bace1 |
A |
G |
9: 45,767,393 (GRCm39) |
D192G |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,004,162 (GRCm39) |
T1624S |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,811,790 (GRCm39) |
S1309G |
probably benign |
Het |
| Cd177 |
G |
T |
7: 24,456,072 (GRCm39) |
T232K |
probably damaging |
Het |
| Chil4 |
T |
A |
3: 106,111,475 (GRCm39) |
D213V |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,182,546 (GRCm39) |
I3538N |
probably damaging |
Het |
| Cyp26a1 |
T |
A |
19: 37,687,753 (GRCm39) |
M287K |
possibly damaging |
Het |
| Dcaf5 |
T |
C |
12: 80,446,732 (GRCm39) |
D129G |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,536,370 (GRCm39) |
K2095N |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,292,701 (GRCm39) |
S106L |
probably damaging |
Het |
| Dock2 |
C |
T |
11: 34,189,675 (GRCm39) |
E1499K |
possibly damaging |
Het |
| Dus4l |
A |
G |
12: 31,696,714 (GRCm39) |
F88L |
probably damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,166,830 (GRCm39) |
D54E |
probably benign |
Het |
| Fign |
T |
A |
2: 63,809,950 (GRCm39) |
H440L |
possibly damaging |
Het |
| Gabpa |
A |
G |
16: 84,643,174 (GRCm39) |
D157G |
probably damaging |
Het |
| Gapdh |
T |
A |
6: 125,142,403 (GRCm39) |
|
probably benign |
Het |
| Gbp8 |
G |
T |
5: 105,164,081 (GRCm39) |
R406S |
probably benign |
Het |
| Gm21775 |
A |
G |
Y: 10,553,894 (GRCm39) |
R148G |
possibly damaging |
Het |
| Gm28363 |
G |
A |
1: 117,626,579 (GRCm39) |
V6I |
unknown |
Het |
| Gmps |
A |
G |
3: 63,918,982 (GRCm39) |
D522G |
probably damaging |
Het |
| Gpr75 |
T |
C |
11: 30,842,687 (GRCm39) |
S531P |
probably damaging |
Het |
| Hars2 |
G |
T |
18: 36,923,614 (GRCm39) |
E468D |
probably benign |
Het |
| Jph4 |
C |
A |
14: 55,352,664 (GRCm39) |
R23L |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,219,230 (GRCm39) |
Y216F |
probably benign |
Het |
| L3mbtl1 |
G |
A |
2: 162,791,460 (GRCm39) |
|
probably null |
Het |
| Lama4 |
G |
A |
10: 38,841,729 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,926,675 (GRCm39) |
S3494T |
possibly damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,155,617 (GRCm39) |
S879P |
probably benign |
Het |
| Ncaph |
C |
T |
2: 126,964,034 (GRCm39) |
V304M |
probably benign |
Het |
| Noto |
A |
T |
6: 85,405,047 (GRCm39) |
I229F |
possibly damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,597,731 (GRCm39) |
M170V |
unknown |
Het |
| Or4c29 |
T |
C |
2: 88,740,203 (GRCm39) |
D178G |
probably damaging |
Het |
| Or8k25 |
T |
A |
2: 86,243,695 (GRCm39) |
K234* |
probably null |
Het |
| Pald1 |
A |
T |
10: 61,182,845 (GRCm39) |
V368E |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,678,071 (GRCm39) |
M217K |
probably damaging |
Het |
| Pira1 |
A |
T |
7: 3,741,828 (GRCm39) |
V184E |
probably damaging |
Het |
| Pitpnm2 |
G |
T |
5: 124,259,366 (GRCm39) |
A1323E |
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,190 (GRCm39) |
S575G |
probably benign |
Het |
| Prok1 |
T |
C |
3: 107,146,941 (GRCm39) |
I9V |
probably benign |
Het |
| Ptprc |
A |
T |
1: 137,998,918 (GRCm39) |
V905D |
probably damaging |
Het |
| Rbm25 |
G |
T |
12: 83,710,772 (GRCm39) |
G295V |
unknown |
Het |
| Rreb1 |
T |
C |
13: 38,100,544 (GRCm39) |
M225T |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,858,989 (GRCm39) |
K55E |
probably damaging |
Het |
| Saxo4 |
T |
A |
19: 10,459,702 (GRCm39) |
M2L |
probably benign |
Het |
| Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
| Setx |
C |
A |
2: 29,038,184 (GRCm39) |
D1556E |
probably benign |
Het |
| Sft2d1 |
C |
T |
17: 8,542,164 (GRCm39) |
T136I |
possibly damaging |
Het |
| Sirt5 |
C |
T |
13: 43,525,380 (GRCm39) |
A63V |
possibly damaging |
Het |
| Skor2 |
A |
G |
18: 76,947,504 (GRCm39) |
T409A |
possibly damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,164,760 (GRCm39) |
M153T |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 24,006,348 (GRCm39) |
Y458C |
probably damaging |
Het |
| Slc36a2 |
A |
G |
11: 55,053,483 (GRCm39) |
V385A |
possibly damaging |
Het |
| St6galnac5 |
A |
T |
3: 152,552,131 (GRCm39) |
H145Q |
probably damaging |
Het |
| Tal1 |
T |
A |
4: 114,925,610 (GRCm39) |
N226K |
probably damaging |
Het |
| Tgtp2 |
G |
C |
11: 48,950,135 (GRCm39) |
R146G |
probably damaging |
Het |
| Usp6nl |
T |
C |
2: 6,445,330 (GRCm39) |
S436P |
probably benign |
Het |
| Utp3 |
A |
G |
5: 88,702,621 (GRCm39) |
E50G |
probably benign |
Het |
| Zfp12 |
A |
T |
5: 143,225,749 (GRCm39) |
Q19L |
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 |
|
|
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 |
|
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'- CTGTAAGATTGTTGAAGGGGAACTG -3'
(R):5'- TGGGTTTTAGTAAGACAAGAAGCC -3'
Sequencing Primer
(F):5'- GAACTGTGTAGTAAGACTGATTGCC -3'
(R):5'- TTAGTAAGACAAGAAGCCTCTTACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation