Incidental Mutation 'R8456:Bltp3b'
ID |
655032 |
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 |
067833-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.415)
|
Stock # |
R8456 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
89580853-89655733 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89647954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1339
(T1339A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020112]
[ENSMUST00000218607]
|
AlphaFold |
A2RSJ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020112
AA Change: T1339A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000020112 Gene: ENSMUSG00000019951 AA Change: T1339A
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
AA Change: T222A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218776
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,842,360 (GRCm39) |
E1098G |
probably benign |
Het |
Akap1 |
T |
A |
11: 88,725,557 (GRCm39) |
|
probably null |
Het |
Arhgap26 |
T |
C |
18: 39,244,901 (GRCm39) |
V182A |
possibly damaging |
Het |
Arhgef19 |
A |
G |
4: 140,977,926 (GRCm39) |
K545R |
probably benign |
Het |
Asph |
C |
T |
4: 9,537,722 (GRCm39) |
R352Q |
probably benign |
Het |
B3glct |
T |
A |
5: 149,650,254 (GRCm39) |
I119N |
probably damaging |
Het |
Camsap3 |
C |
T |
8: 3,650,679 (GRCm39) |
R236* |
probably null |
Het |
Ccser2 |
A |
T |
14: 36,612,331 (GRCm39) |
M792K |
probably benign |
Het |
Ceacam5 |
C |
T |
7: 17,479,624 (GRCm39) |
T247I |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 66,047,764 (GRCm39) |
S19P |
probably damaging |
Het |
Dtwd1 |
A |
G |
2: 126,000,451 (GRCm39) |
E129G |
probably damaging |
Het |
Ebf3 |
T |
A |
7: 136,800,916 (GRCm39) |
M490L |
probably benign |
Het |
Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,110,789 (GRCm39) |
L1008S |
probably damaging |
Het |
Ereg |
C |
T |
5: 91,237,993 (GRCm39) |
P160S |
possibly damaging |
Het |
Exoc6b |
ATTT |
ATTTT |
6: 84,821,077 (GRCm39) |
|
probably null |
Het |
Fmn1 |
A |
G |
2: 113,195,385 (GRCm39) |
T362A |
unknown |
Het |
Gm14326 |
A |
T |
2: 177,590,312 (GRCm39) |
D16E |
probably benign |
Het |
H1f8 |
A |
T |
6: 115,925,745 (GRCm39) |
M181L |
probably benign |
Het |
H3c1 |
A |
T |
13: 23,946,083 (GRCm39) |
F85Y |
probably damaging |
Het |
Herc6 |
A |
T |
6: 57,575,548 (GRCm39) |
T190S |
probably benign |
Het |
Lama1 |
T |
G |
17: 68,044,491 (GRCm39) |
I130S |
|
Het |
Letm2 |
T |
C |
8: 26,071,729 (GRCm39) |
D391G |
probably damaging |
Het |
Map3k9 |
T |
C |
12: 81,780,892 (GRCm39) |
I423V |
probably damaging |
Het |
Melk |
T |
A |
4: 44,312,191 (GRCm39) |
C168S |
possibly damaging |
Het |
Naa16 |
A |
T |
14: 79,596,915 (GRCm39) |
N356K |
probably benign |
Het |
Nup214 |
A |
G |
2: 31,929,372 (GRCm39) |
N1873S |
probably benign |
Het |
Or2y1f |
C |
T |
11: 49,184,385 (GRCm39) |
P79L |
probably damaging |
Het |
Or8b41 |
T |
A |
9: 38,054,981 (GRCm39) |
C178* |
probably null |
Het |
Pom121 |
A |
G |
5: 135,410,032 (GRCm39) |
F1042L |
unknown |
Het |
Pramel51 |
T |
A |
12: 88,143,986 (GRCm39) |
T284S |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,061,889 (GRCm39) |
S1334P |
probably damaging |
Het |
Ranbp1 |
C |
T |
16: 18,063,170 (GRCm39) |
E69K |
probably damaging |
Het |
Rasl11a |
T |
C |
5: 146,782,045 (GRCm39) |
S7P |
probably damaging |
Het |
Rev1 |
G |
A |
1: 38,098,324 (GRCm39) |
R740* |
probably null |
Het |
Rnf157 |
C |
T |
11: 116,240,246 (GRCm39) |
V443M |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,291,017 (GRCm39) |
T1910S |
probably benign |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Sh2b1 |
C |
CAGCCACGGGGCCTAGCTA |
7: 126,066,772 (GRCm39) |
|
probably null |
Het |
Siah2 |
T |
C |
3: 58,583,503 (GRCm39) |
N261S |
probably benign |
Het |
Sumf2 |
T |
G |
5: 129,889,003 (GRCm39) |
W264G |
possibly damaging |
Het |
Tal1 |
G |
T |
4: 114,920,625 (GRCm39) |
A100S |
probably benign |
Het |
Tmprss9 |
A |
G |
10: 80,730,251 (GRCm39) |
D717G |
possibly damaging |
Het |
Tox2 |
G |
T |
2: 163,046,550 (GRCm39) |
R9L |
unknown |
Het |
Traj46 |
A |
G |
14: 54,409,795 (GRCm39) |
E1G |
|
Het |
Unc80 |
A |
G |
1: 66,680,788 (GRCm39) |
D2128G |
possibly damaging |
Het |
Usp21 |
A |
T |
1: 171,112,290 (GRCm39) |
F308I |
probably damaging |
Het |
Vgf |
A |
T |
5: 137,061,265 (GRCm39) |
I476F |
probably damaging |
Het |
Vps35 |
G |
A |
8: 85,987,934 (GRCm39) |
T739I |
possibly damaging |
Het |
Wdr95 |
G |
T |
5: 149,502,572 (GRCm39) |
C279F |
probably damaging |
Het |
Zbtb32 |
T |
C |
7: 30,289,381 (GRCm39) |
S94G |
unknown |
Het |
Zdhhc13 |
T |
A |
7: 48,452,747 (GRCm39) |
I153N |
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 |
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 |
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'- ATTGACAGTGAATGCTACAGAGATC -3'
(R):5'- ACTAACGTGGCAAAAGCATTC -3'
Sequencing Primer
(F):5'- GTGAATGCTACAGAGATCCTTTTTAG -3'
(R):5'- AGCATTCCCCAATCGTCACTACTG -3'
|
Posted On |
2020-10-20 |