Incidental Mutation 'R8338:Bltp3a'
ID |
644771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bltp3a
|
Ensembl Gene |
ENSMUSG00000039512 |
Gene Name |
bridge-like lipid transfer protein family member 3A |
Synonyms |
1110020K19Rik, F830021D11Rik, Uhrf1bp1 |
MMRRC Submission |
067730-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8338 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28095669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 26
(N26S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114849]
|
AlphaFold |
B2KF50 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114849
AA Change: N26S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110499 Gene: ENSMUSG00000039512 AA Change: N26S
Domain | Start | End | E-Value | Type |
Pfam:Chorein_N
|
1 |
104 |
2.6e-18 |
PFAM |
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
low complexity region
|
1128 |
1144 |
N/A |
INTRINSIC |
low complexity region
|
1200 |
1216 |
N/A |
INTRINSIC |
low complexity region
|
1322 |
1333 |
N/A |
INTRINSIC |
low complexity region
|
1375 |
1386 |
N/A |
INTRINSIC |
coiled coil region
|
1394 |
1424 |
N/A |
INTRINSIC |
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ache |
T |
C |
5: 137,290,006 (GRCm39) |
L445P |
probably damaging |
Het |
Agrn |
G |
A |
4: 156,253,018 (GRCm39) |
T1773I |
probably benign |
Het |
Arap3 |
A |
G |
18: 38,106,683 (GRCm39) |
S1387P |
probably damaging |
Het |
Bcl11a |
G |
C |
11: 24,114,578 (GRCm39) |
K640N |
probably damaging |
Het |
Bicd1 |
G |
A |
6: 149,414,621 (GRCm39) |
V445I |
probably benign |
Het |
C2cd6 |
A |
C |
1: 59,099,734 (GRCm39) |
N402K |
probably benign |
Het |
Celsr3 |
C |
T |
9: 108,704,539 (GRCm39) |
Q341* |
probably null |
Het |
Cers1 |
A |
G |
8: 70,783,772 (GRCm39) |
E240G |
possibly damaging |
Het |
Cfap157 |
G |
T |
2: 32,668,018 (GRCm39) |
T441N |
possibly damaging |
Het |
Cfap44 |
G |
A |
16: 44,239,698 (GRCm39) |
|
probably null |
Het |
Chd1 |
A |
G |
17: 15,990,242 (GRCm39) |
Y1598C |
probably damaging |
Het |
Ckap2l |
T |
G |
2: 129,126,939 (GRCm39) |
Q413P |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,203,696 (GRCm39) |
E1002G |
probably benign |
Het |
Cryge |
G |
A |
1: 65,087,933 (GRCm39) |
T156M |
unknown |
Het |
Cubn |
A |
C |
2: 13,435,658 (GRCm39) |
F1099L |
probably benign |
Het |
Cyp7b1 |
T |
C |
3: 18,151,730 (GRCm39) |
E161G |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,909,566 (GRCm39) |
E4452G |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,378,122 (GRCm39) |
R1273Q |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,671,104 (GRCm39) |
E593G |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,732,067 (GRCm39) |
|
probably null |
Het |
Dnajc22 |
C |
A |
15: 98,999,022 (GRCm39) |
P69Q |
probably benign |
Het |
Fam171a2 |
T |
A |
11: 102,329,172 (GRCm39) |
D529V |
probably benign |
Het |
Fbxl17 |
T |
C |
17: 63,663,753 (GRCm39) |
I579V |
possibly damaging |
Het |
Fry |
C |
T |
5: 150,282,516 (GRCm39) |
T347M |
probably damaging |
Het |
Gm13272 |
A |
C |
4: 88,698,364 (GRCm39) |
D93A |
probably benign |
Het |
Grm4 |
A |
T |
17: 27,653,977 (GRCm39) |
F658I |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,614,485 (GRCm39) |
T1307I |
probably benign |
Het |
Igkv12-98 |
G |
A |
6: 68,548,159 (GRCm39) |
S96N |
probably benign |
Het |
Il2ra |
A |
T |
2: 11,687,885 (GRCm39) |
T222S |
probably benign |
Het |
Il5ra |
G |
T |
6: 106,689,350 (GRCm39) |
T414K |
probably benign |
Het |
Isg15 |
T |
A |
4: 156,284,088 (GRCm39) |
I147F |
probably benign |
Het |
Kif14 |
C |
A |
1: 136,422,416 (GRCm39) |
A902E |
probably damaging |
Het |
Lcat |
G |
A |
8: 106,666,719 (GRCm39) |
R268C |
probably damaging |
Het |
Lipa |
T |
C |
19: 34,471,477 (GRCm39) |
N366S |
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,322,713 (GRCm39) |
T1101A |
probably benign |
Het |
Man1a |
T |
A |
10: 53,801,643 (GRCm39) |
|
probably null |
Het |
Mib1 |
A |
G |
18: 10,726,372 (GRCm39) |
D23G |
probably benign |
Het |
Morc2b |
A |
T |
17: 33,355,387 (GRCm39) |
M795K |
probably benign |
Het |
Msantd5f1 |
T |
A |
4: 73,605,435 (GRCm39) |
M282K |
possibly damaging |
Het |
Mycbp2 |
T |
A |
14: 103,372,701 (GRCm39) |
E4048D |
probably damaging |
Het |
Myo7b |
A |
G |
18: 32,104,408 (GRCm39) |
S1447P |
probably damaging |
Het |
Myt1 |
A |
T |
2: 181,443,655 (GRCm39) |
T536S |
possibly damaging |
Het |
Nod1 |
A |
T |
6: 54,920,956 (GRCm39) |
L454Q |
probably damaging |
Het |
Nrf1 |
T |
A |
6: 30,140,247 (GRCm39) |
W199R |
|
Het |
Or10w1 |
T |
A |
19: 13,632,216 (GRCm39) |
M141K |
possibly damaging |
Het |
Or13a27 |
T |
A |
7: 139,925,306 (GRCm39) |
M199L |
probably benign |
Het |
Or14c44 |
T |
C |
7: 86,061,702 (GRCm39) |
I44T |
probably benign |
Het |
Or8k27 |
A |
T |
2: 86,275,729 (GRCm39) |
M199K |
probably benign |
Het |
Or9a4 |
T |
C |
6: 40,548,910 (GRCm39) |
F197L |
probably benign |
Het |
Ostn |
G |
T |
16: 27,143,285 (GRCm39) |
A38S |
probably benign |
Het |
Paxbp1 |
A |
T |
16: 90,833,435 (GRCm39) |
D266E |
probably damaging |
Het |
Pcdhb14 |
G |
T |
18: 37,582,175 (GRCm39) |
G427V |
probably damaging |
Het |
Pdzrn3 |
A |
T |
6: 101,127,783 (GRCm39) |
M961K |
probably benign |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Prdx5 |
T |
C |
19: 6,884,632 (GRCm39) |
D148G |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,301,481 (GRCm39) |
I217N |
possibly damaging |
Het |
Rccd1 |
A |
T |
7: 79,970,618 (GRCm39) |
L54Q |
possibly damaging |
Het |
Rfx6 |
T |
A |
10: 51,594,190 (GRCm39) |
V370E |
probably damaging |
Het |
Sdr16c6 |
C |
T |
4: 4,076,620 (GRCm39) |
C93Y |
probably damaging |
Het |
Shroom1 |
A |
G |
11: 53,354,107 (GRCm39) |
D9G |
probably benign |
Het |
Snrpe |
A |
G |
1: 133,536,681 (GRCm39) |
V33A |
probably benign |
Het |
Spats2 |
T |
A |
15: 99,076,340 (GRCm39) |
D139E |
probably damaging |
Het |
Spopfm1 |
A |
G |
3: 94,173,285 (GRCm39) |
I94V |
possibly damaging |
Het |
St18 |
A |
G |
1: 6,879,516 (GRCm39) |
E405G |
probably damaging |
Het |
Strap |
A |
T |
6: 137,718,976 (GRCm39) |
E176V |
possibly damaging |
Het |
Stxbp5l |
G |
T |
16: 36,994,718 (GRCm39) |
T729K |
probably damaging |
Het |
Synj2bp |
G |
A |
12: 81,551,326 (GRCm39) |
Q97* |
probably null |
Het |
Tbc1d32 |
T |
A |
10: 55,904,173 (GRCm39) |
Q1198L |
possibly damaging |
Het |
Tmem98 |
T |
C |
11: 80,712,135 (GRCm39) |
S191P |
probably benign |
Het |
Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
Treh |
A |
G |
9: 44,595,808 (GRCm39) |
N366S |
probably benign |
Het |
Ttn |
T |
G |
2: 76,750,136 (GRCm39) |
S3638R |
probably benign |
Het |
Uggt1 |
A |
G |
1: 36,266,602 (GRCm39) |
L124P |
probably damaging |
Het |
V1rd19 |
A |
T |
7: 23,702,674 (GRCm39) |
K47* |
probably null |
Het |
Wdhd1 |
T |
C |
14: 47,506,120 (GRCm39) |
M265V |
probably benign |
Het |
Wsb1 |
T |
C |
11: 79,137,103 (GRCm39) |
D168G |
probably damaging |
Het |
|
Other mutations in Bltp3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00675:Bltp3a
|
APN |
17 |
28,095,891 (GRCm39) |
splice site |
probably benign |
|
IGL00786:Bltp3a
|
APN |
17 |
28,098,266 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01074:Bltp3a
|
APN |
17 |
28,098,265 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01780:Bltp3a
|
APN |
17 |
28,112,474 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02668:Bltp3a
|
APN |
17 |
28,105,549 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02686:Bltp3a
|
APN |
17 |
28,113,563 (GRCm39) |
missense |
probably benign |
|
IGL03240:Bltp3a
|
APN |
17 |
28,112,227 (GRCm39) |
missense |
probably benign |
0.37 |
hades
|
UTSW |
17 |
28,113,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R0167:Bltp3a
|
UTSW |
17 |
28,099,176 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0240:Bltp3a
|
UTSW |
17 |
28,114,844 (GRCm39) |
splice site |
probably benign |
|
R0332:Bltp3a
|
UTSW |
17 |
28,112,268 (GRCm39) |
critical splice donor site |
probably null |
|
R0668:Bltp3a
|
UTSW |
17 |
28,114,913 (GRCm39) |
missense |
probably benign |
0.16 |
R0726:Bltp3a
|
UTSW |
17 |
28,104,463 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0964:Bltp3a
|
UTSW |
17 |
28,106,152 (GRCm39) |
missense |
probably damaging |
0.96 |
R1125:Bltp3a
|
UTSW |
17 |
28,112,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R1139:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1164:Bltp3a
|
UTSW |
17 |
28,114,354 (GRCm39) |
critical splice donor site |
probably null |
|
R1192:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1277:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1279:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1340:Bltp3a
|
UTSW |
17 |
28,113,695 (GRCm39) |
missense |
probably benign |
0.00 |
R1341:Bltp3a
|
UTSW |
17 |
28,096,393 (GRCm39) |
splice site |
probably benign |
|
R1344:Bltp3a
|
UTSW |
17 |
28,113,551 (GRCm39) |
missense |
probably benign |
0.41 |
R1418:Bltp3a
|
UTSW |
17 |
28,113,551 (GRCm39) |
missense |
probably benign |
0.41 |
R1552:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1726:Bltp3a
|
UTSW |
17 |
28,105,225 (GRCm39) |
splice site |
probably null |
|
R1791:Bltp3a
|
UTSW |
17 |
28,113,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Bltp3a
|
UTSW |
17 |
28,109,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2858:Bltp3a
|
UTSW |
17 |
28,104,436 (GRCm39) |
missense |
probably damaging |
0.99 |
R3034:Bltp3a
|
UTSW |
17 |
28,113,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R4111:Bltp3a
|
UTSW |
17 |
28,105,064 (GRCm39) |
nonsense |
probably null |
|
R4159:Bltp3a
|
UTSW |
17 |
28,103,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R4160:Bltp3a
|
UTSW |
17 |
28,103,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R4161:Bltp3a
|
UTSW |
17 |
28,103,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R4431:Bltp3a
|
UTSW |
17 |
28,104,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R4575:Bltp3a
|
UTSW |
17 |
28,106,477 (GRCm39) |
missense |
probably benign |
0.02 |
R4657:Bltp3a
|
UTSW |
17 |
28,109,079 (GRCm39) |
missense |
probably benign |
0.09 |
R4666:Bltp3a
|
UTSW |
17 |
28,112,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4825:Bltp3a
|
UTSW |
17 |
28,096,368 (GRCm39) |
missense |
probably damaging |
0.98 |
R4872:Bltp3a
|
UTSW |
17 |
28,109,110 (GRCm39) |
missense |
probably benign |
0.10 |
R4956:Bltp3a
|
UTSW |
17 |
28,108,958 (GRCm39) |
splice site |
probably null |
|
R4976:Bltp3a
|
UTSW |
17 |
28,103,000 (GRCm39) |
missense |
probably damaging |
0.99 |
R4982:Bltp3a
|
UTSW |
17 |
28,105,580 (GRCm39) |
missense |
probably benign |
0.05 |
R5017:Bltp3a
|
UTSW |
17 |
28,113,713 (GRCm39) |
nonsense |
probably null |
|
R5033:Bltp3a
|
UTSW |
17 |
28,105,838 (GRCm39) |
missense |
probably damaging |
0.99 |
R5137:Bltp3a
|
UTSW |
17 |
28,095,964 (GRCm39) |
splice site |
probably null |
|
R5159:Bltp3a
|
UTSW |
17 |
28,100,530 (GRCm39) |
missense |
probably damaging |
0.98 |
R5177:Bltp3a
|
UTSW |
17 |
28,103,992 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5196:Bltp3a
|
UTSW |
17 |
28,075,737 (GRCm39) |
missense |
probably benign |
0.09 |
R5214:Bltp3a
|
UTSW |
17 |
28,106,489 (GRCm39) |
missense |
probably benign |
|
R5352:Bltp3a
|
UTSW |
17 |
28,106,489 (GRCm39) |
missense |
probably benign |
|
R5354:Bltp3a
|
UTSW |
17 |
28,106,489 (GRCm39) |
missense |
probably benign |
|
R5425:Bltp3a
|
UTSW |
17 |
28,106,489 (GRCm39) |
missense |
probably benign |
|
R5601:Bltp3a
|
UTSW |
17 |
28,103,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R6080:Bltp3a
|
UTSW |
17 |
28,099,271 (GRCm39) |
missense |
probably benign |
|
R6088:Bltp3a
|
UTSW |
17 |
28,103,579 (GRCm39) |
critical splice donor site |
probably null |
|
R6331:Bltp3a
|
UTSW |
17 |
28,112,175 (GRCm39) |
missense |
probably benign |
0.01 |
R6529:Bltp3a
|
UTSW |
17 |
28,098,750 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6614:Bltp3a
|
UTSW |
17 |
28,095,899 (GRCm39) |
missense |
probably benign |
0.18 |
R6701:Bltp3a
|
UTSW |
17 |
28,106,331 (GRCm39) |
nonsense |
probably null |
|
R7082:Bltp3a
|
UTSW |
17 |
28,109,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R7158:Bltp3a
|
UTSW |
17 |
28,105,407 (GRCm39) |
nonsense |
probably null |
|
R8914:Bltp3a
|
UTSW |
17 |
28,105,887 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9135:Bltp3a
|
UTSW |
17 |
28,104,902 (GRCm39) |
nonsense |
probably null |
|
R9218:Bltp3a
|
UTSW |
17 |
28,114,529 (GRCm39) |
missense |
probably benign |
0.00 |
R9421:Bltp3a
|
UTSW |
17 |
28,095,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R9495:Bltp3a
|
UTSW |
17 |
28,112,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R9514:Bltp3a
|
UTSW |
17 |
28,112,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R9621:Bltp3a
|
UTSW |
17 |
28,105,753 (GRCm39) |
missense |
probably benign |
0.00 |
R9766:Bltp3a
|
UTSW |
17 |
28,105,799 (GRCm39) |
missense |
probably damaging |
1.00 |
RF005:Bltp3a
|
UTSW |
17 |
28,104,505 (GRCm39) |
missense |
probably damaging |
1.00 |
X0017:Bltp3a
|
UTSW |
17 |
28,096,315 (GRCm39) |
missense |
probably benign |
0.03 |
Z1176:Bltp3a
|
UTSW |
17 |
28,105,280 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Bltp3a
|
UTSW |
17 |
28,095,650 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Bltp3a
|
UTSW |
17 |
28,103,940 (GRCm39) |
missense |
not run |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATCTGGCCTAGCTGCTTTG -3'
(R):5'- AAGTGAACAAGCCTGCTGG -3'
Sequencing Primer
(F):5'- CCTAGCTGCTTTGTTTTTAGGAGAC -3'
(R):5'- TGCAGTAGACCCTAGTGA -3'
|
Posted On |
2020-09-02 |