Incidental Mutation 'R7376:Bltp3b'
| ID |
572403 |
| 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 |
045459-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.415)
|
| Stock # |
R7376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
89580853-89655733 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89645518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 1197
(G1197D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020112]
[ENSMUST00000218607]
[ENSMUST00000220375]
|
| AlphaFold |
A2RSJ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020112
AA Change: G1197D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020112
Gene: ENSMUSG00000019951
AA Change: G1197D
| 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 damaging
Transcript: ENSMUST00000218607
AA Change: G85D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218776
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220375
|
| Meta Mutation Damage Score |
0.2332 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,241,118 (GRCm39) |
I994V |
probably benign |
Het |
| Acan |
T |
G |
7: 78,738,055 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
G |
A |
15: 11,277,425 (GRCm39) |
V680I |
possibly damaging |
Het |
| Adgrg7 |
T |
C |
16: 56,545,342 (GRCm39) |
I712V |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,942,597 (GRCm39) |
H1477R |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,599,088 (GRCm39) |
S1305P |
probably benign |
Het |
| Banp |
T |
A |
8: 122,701,236 (GRCm39) |
M39K |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,135,111 (GRCm39) |
T75A |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| Brinp2 |
C |
T |
1: 158,078,938 (GRCm39) |
C295Y |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,883,993 (GRCm39) |
V429I |
probably benign |
Het |
| Cdca3 |
G |
A |
6: 124,809,538 (GRCm39) |
R184H |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,067,509 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
G |
4: 126,484,430 (GRCm39) |
K1196R |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,894,994 (GRCm39) |
T89A |
possibly damaging |
Het |
| Cpne9 |
A |
T |
6: 113,266,974 (GRCm39) |
I136L |
probably damaging |
Het |
| Crat |
T |
A |
2: 30,296,477 (GRCm39) |
I330F |
probably damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,615,697 (GRCm39) |
Q413K |
possibly damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,151,238 (GRCm39) |
E1220G |
probably damaging |
Het |
| Dap |
A |
G |
15: 31,235,985 (GRCm39) |
D41G |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,590,967 (GRCm39) |
I3287V |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,356,819 (GRCm39) |
H233R |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,231,770 (GRCm39) |
I3121T |
probably benign |
Het |
| Espnl |
T |
G |
1: 91,250,036 (GRCm39) |
L61R |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,527,983 (GRCm39) |
S331P |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,050,344 (GRCm39) |
E535G |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,043,084 (GRCm39) |
I650T |
possibly damaging |
Het |
| Iyd |
T |
A |
10: 3,495,690 (GRCm39) |
I116N |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,553,792 (GRCm39) |
L1002S |
probably damaging |
Het |
| Kifbp |
C |
T |
10: 62,394,843 (GRCm39) |
V600I |
possibly damaging |
Het |
| Lgi1 |
G |
A |
19: 38,272,468 (GRCm39) |
G113D |
probably damaging |
Het |
| Lgi2 |
G |
A |
5: 52,695,604 (GRCm39) |
R452C |
probably damaging |
Het |
| Man2b2 |
T |
G |
5: 36,970,722 (GRCm39) |
N764T |
probably damaging |
Het |
| Mrps18b |
A |
G |
17: 36,221,587 (GRCm39) |
I246T |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,426,287 (GRCm39) |
T4795A |
possibly damaging |
Het |
| Mybl2 |
G |
A |
2: 162,924,513 (GRCm39) |
G627D |
possibly damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,794 (GRCm39) |
R16K |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,121 (GRCm39) |
V271E |
possibly damaging |
Het |
| P4htm |
C |
T |
9: 108,457,991 (GRCm39) |
V335M |
probably damaging |
Het |
| Pbx3 |
A |
G |
2: 34,094,889 (GRCm39) |
I249T |
probably damaging |
Het |
| Plod3 |
G |
T |
5: 137,019,335 (GRCm39) |
V360L |
probably benign |
Het |
| Podxl2 |
C |
T |
6: 88,826,632 (GRCm39) |
D161N |
probably benign |
Het |
| Polr1b |
G |
T |
2: 128,960,993 (GRCm39) |
V651L |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,075,749 (GRCm39) |
S586P |
probably benign |
Het |
| Pum3 |
C |
T |
19: 27,371,728 (GRCm39) |
G575D |
probably benign |
Het |
| Rnf157 |
C |
A |
11: 116,251,192 (GRCm39) |
A111S |
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,344,212 (GRCm39) |
L29P |
probably damaging |
Het |
| Smarca5 |
T |
C |
8: 81,452,680 (GRCm39) |
N342S |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,009,078 (GRCm39) |
I198K |
probably benign |
Het |
| Tmem177 |
A |
T |
1: 119,837,744 (GRCm39) |
*312R |
probably null |
Het |
| Tom1l2 |
A |
T |
11: 60,152,026 (GRCm39) |
M172K |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,756,414 (GRCm39) |
V3A |
unknown |
Het |
| Vmn1r128 |
G |
T |
7: 21,083,668 (GRCm39) |
G124V |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,342 (GRCm39) |
I70T |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,631 (GRCm39) |
T665A |
probably damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,314,790 (GRCm39) |
F346S |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,910,691 (GRCm39) |
D694E |
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 |
|
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 |
|
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'- CTATAGAATGCAATAGCCAGGCTC -3'
(R):5'- CAATATGGTCTCCCTCCAGC -3'
Sequencing Primer
(F):5'- AATAGCCAGGCTCTGCGG -3'
(R):5'- CCCTCCAGCTGAGTCATAATG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation