Incidental Mutation 'R9220:Bltp3b'
| ID |
699411 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.399)
|
| Stock # |
R9220 (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 T
at 89626457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 384
(T384S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020112]
[ENSMUST00000220375]
|
| AlphaFold |
A2RSJ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020112
AA Change: T384S
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020112
Gene: ENSMUSG00000019951
AA Change: T384S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220375
AA Change: T296S
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Afg3l2 |
T |
G |
18: 67,562,266 (GRCm39) |
I270L |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,187,232 (GRCm39) |
I1549F |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,737,086 (GRCm39) |
T2933A |
unknown |
Het |
| Atp1a3 |
C |
A |
7: 24,696,625 (GRCm39) |
E309* |
probably null |
Het |
| B4galt2 |
T |
C |
4: 117,734,399 (GRCm39) |
Y250C |
probably damaging |
Het |
| Bcl2l13 |
C |
A |
6: 120,847,735 (GRCm39) |
T129K |
possibly damaging |
Het |
| Clp1 |
A |
T |
2: 84,554,076 (GRCm39) |
H364Q |
probably damaging |
Het |
| Ddx27 |
T |
C |
2: 166,871,433 (GRCm39) |
V510A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,679,415 (GRCm39) |
C521R |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,871,437 (GRCm39) |
I2486F |
probably benign |
Het |
| Eml1 |
C |
A |
12: 108,480,702 (GRCm39) |
C389* |
probably null |
Het |
| Fabp6 |
C |
T |
11: 43,489,572 (GRCm39) |
G23D |
probably benign |
Het |
| Fam3b |
A |
T |
16: 97,302,111 (GRCm39) |
S38T |
probably benign |
Het |
| Fsd1l |
A |
T |
4: 53,679,799 (GRCm39) |
K166* |
probably null |
Het |
| Galc |
A |
G |
12: 98,220,523 (GRCm39) |
S115P |
probably damaging |
Het |
| Gpn1 |
G |
A |
5: 31,664,884 (GRCm39) |
A303T |
probably benign |
Het |
| Grid2 |
A |
T |
6: 63,885,888 (GRCm39) |
S95C |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,560,873 (GRCm39) |
S1312T |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,410,325 (GRCm39) |
F506L |
possibly damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,717,512 (GRCm39) |
S148G |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,484,398 (GRCm39) |
D333V |
probably damaging |
Het |
| Ndrg1 |
A |
G |
15: 66,805,711 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
A |
T |
7: 26,149,523 (GRCm39) |
N377Y |
probably damaging |
Het |
| Nox4 |
C |
T |
7: 86,970,774 (GRCm39) |
T217I |
probably benign |
Het |
| Or7g21 |
T |
C |
9: 19,033,193 (GRCm39) |
F311S |
possibly damaging |
Het |
| Or8b52 |
A |
T |
9: 38,576,803 (GRCm39) |
Y112* |
probably null |
Het |
| Phf8-ps |
T |
C |
17: 33,286,494 (GRCm39) |
I103V |
probably benign |
Het |
| Plekhd1 |
T |
A |
12: 80,768,726 (GRCm39) |
F403Y |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,913,805 (GRCm39) |
S1231P |
|
Het |
| Plekhg3 |
T |
A |
12: 76,618,839 (GRCm39) |
M497K |
probably benign |
Het |
| Rpap1 |
T |
C |
2: 119,604,669 (GRCm39) |
H413R |
probably damaging |
Het |
| Rragd |
A |
G |
4: 32,995,924 (GRCm39) |
T90A |
probably damaging |
Het |
| Septin9 |
T |
C |
11: 117,242,396 (GRCm39) |
M286T |
probably benign |
Het |
| Shpk |
GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA |
GA |
11: 73,113,996 (GRCm39) |
|
probably null |
Het |
| Slc22a2 |
T |
A |
17: 12,838,757 (GRCm39) |
D528E |
probably benign |
Het |
| Slirp |
G |
A |
12: 87,494,376 (GRCm39) |
R47K |
probably benign |
Het |
| Sncg |
T |
C |
14: 34,096,474 (GRCm39) |
T22A |
possibly damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,398,801 (GRCm39) |
S636G |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,546,534 (GRCm39) |
S535R |
probably damaging |
Het |
| Vmn1r149 |
A |
T |
7: 22,137,378 (GRCm39) |
S93T |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,783,058 (GRCm39) |
Y3957H |
|
Het |
| Wdr35 |
T |
A |
12: 9,036,000 (GRCm39) |
V257E |
possibly damaging |
Het |
| Wscd1 |
A |
G |
11: 71,662,750 (GRCm39) |
T264A |
probably benign |
Het |
| Zfp266 |
G |
A |
9: 20,413,337 (GRCm39) |
Q108* |
probably null |
Het |
| Zfp62 |
T |
A |
11: 49,106,075 (GRCm39) |
S55R |
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 |
|
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 |
|
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'- TCTCCTGTAATCAAGGCCATGTC -3'
(R):5'- GCCACTCCCTCAGAATGTTAAAG -3'
Sequencing Primer
(F):5'- CTGTAATCAAGGCCATGTCTCAAAAG -3'
(R):5'- ACAGGCATTGCACTCATGTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation