Incidental Mutation 'R5354:Bltp3a'
ID |
424008 |
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 |
042933-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5354 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 28106489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 1005
(S1005N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114849]
|
AlphaFold |
B2KF50 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114849
AA Change: S1005N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110499 Gene: ENSMUSG00000039512 AA Change: S1005N
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137825
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
100% (80/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
A |
G |
16: 14,436,535 (GRCm39) |
K196R |
probably benign |
Het |
Ablim1 |
T |
C |
19: 57,119,355 (GRCm39) |
E243G |
probably benign |
Het |
Acat1 |
T |
A |
9: 53,500,483 (GRCm39) |
E271V |
possibly damaging |
Het |
Aco1 |
T |
C |
4: 40,180,290 (GRCm39) |
|
probably null |
Het |
Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
Agbl3 |
T |
A |
6: 34,791,687 (GRCm39) |
H596Q |
probably benign |
Het |
Anxa7 |
A |
G |
14: 20,514,977 (GRCm39) |
L177P |
possibly damaging |
Het |
Atp11a |
A |
T |
8: 12,856,753 (GRCm39) |
N48I |
probably damaging |
Het |
Bcas1 |
T |
A |
2: 170,191,316 (GRCm39) |
N492I |
possibly damaging |
Het |
Bclaf1 |
A |
G |
10: 20,209,278 (GRCm39) |
Y498C |
probably damaging |
Het |
Bod1l |
A |
C |
5: 41,988,880 (GRCm39) |
V409G |
probably damaging |
Het |
Ccdc170 |
G |
A |
10: 4,484,188 (GRCm39) |
C338Y |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Ckap2 |
A |
C |
8: 22,667,581 (GRCm39) |
N93K |
probably damaging |
Het |
Clca3a1 |
A |
T |
3: 144,442,766 (GRCm39) |
S759R |
possibly damaging |
Het |
Coro1c |
A |
T |
5: 113,984,226 (GRCm39) |
I347N |
possibly damaging |
Het |
Cpox |
A |
G |
16: 58,491,205 (GRCm39) |
T139A |
probably damaging |
Het |
Cyp4a12b |
C |
A |
4: 115,290,661 (GRCm39) |
|
probably null |
Het |
Dctn1 |
T |
G |
6: 83,160,108 (GRCm39) |
V116G |
possibly damaging |
Het |
Dhx38 |
A |
G |
8: 110,282,378 (GRCm39) |
V683A |
probably damaging |
Het |
Dnah12 |
G |
A |
14: 26,496,299 (GRCm39) |
|
probably null |
Het |
Dnajb7 |
T |
C |
15: 81,292,208 (GRCm39) |
E43G |
probably damaging |
Het |
Dsc1 |
A |
T |
18: 20,220,632 (GRCm39) |
V714E |
probably damaging |
Het |
Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
Egfem1 |
T |
C |
3: 29,136,361 (GRCm39) |
|
probably null |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fmo1 |
T |
C |
1: 162,657,714 (GRCm39) |
T476A |
probably benign |
Het |
Gm10237 |
T |
C |
16: 35,741,099 (GRCm39) |
|
noncoding transcript |
Het |
Gm14496 |
A |
G |
2: 181,642,602 (GRCm39) |
S758G |
probably damaging |
Het |
Gpat2 |
T |
A |
2: 127,270,643 (GRCm39) |
L97Q |
probably damaging |
Het |
Gpr162 |
T |
C |
6: 124,836,600 (GRCm39) |
D357G |
probably benign |
Het |
Hax1 |
A |
T |
3: 89,905,262 (GRCm39) |
D34E |
probably damaging |
Het |
Hmgcr |
C |
T |
13: 96,791,404 (GRCm39) |
V97M |
probably benign |
Het |
Hsd3b2 |
T |
C |
3: 98,619,631 (GRCm39) |
T105A |
probably benign |
Het |
Ints1 |
A |
G |
5: 139,752,183 (GRCm39) |
|
probably null |
Het |
Islr |
T |
C |
9: 58,064,895 (GRCm39) |
E204G |
probably damaging |
Het |
Lrrc36 |
A |
G |
8: 106,151,996 (GRCm39) |
N60D |
probably damaging |
Het |
Maf1 |
T |
C |
15: 76,237,330 (GRCm39) |
|
probably benign |
Het |
Mrgprb4 |
T |
A |
7: 47,848,077 (GRCm39) |
R284W |
probably benign |
Het |
Myh4 |
A |
T |
11: 67,146,551 (GRCm39) |
N1508I |
possibly damaging |
Het |
Nufip2 |
A |
G |
11: 77,577,103 (GRCm39) |
H17R |
unknown |
Het |
Oasl1 |
A |
T |
5: 115,075,055 (GRCm39) |
I372L |
probably damaging |
Het |
Or5ae1 |
T |
A |
7: 84,565,357 (GRCm39) |
Y123* |
probably null |
Het |
Or6p1 |
T |
C |
1: 174,258,252 (GRCm39) |
L86P |
probably damaging |
Het |
Pald1 |
A |
T |
10: 61,184,440 (GRCm39) |
Y226N |
probably damaging |
Het |
Pcdhb13 |
G |
T |
18: 37,577,844 (GRCm39) |
G741C |
probably damaging |
Het |
Pcdhga10 |
A |
G |
18: 37,881,259 (GRCm39) |
D340G |
probably damaging |
Het |
Pclo |
C |
A |
5: 14,728,822 (GRCm39) |
|
probably benign |
Het |
Pcsk4 |
G |
T |
10: 80,159,523 (GRCm39) |
N416K |
probably damaging |
Het |
Pde10a |
C |
A |
17: 9,180,812 (GRCm39) |
R398S |
probably damaging |
Het |
Plin1 |
T |
A |
7: 79,375,469 (GRCm39) |
T227S |
possibly damaging |
Het |
Pnpt1 |
A |
G |
11: 29,104,166 (GRCm39) |
D542G |
probably damaging |
Het |
Ppp4r3b |
T |
A |
11: 29,161,646 (GRCm39) |
D673E |
probably benign |
Het |
Prr18 |
C |
A |
17: 8,559,892 (GRCm39) |
P16Q |
probably damaging |
Het |
Psmc3 |
T |
A |
2: 90,889,698 (GRCm39) |
Y440N |
probably damaging |
Het |
Rassf5 |
T |
C |
1: 131,108,385 (GRCm39) |
I232V |
probably benign |
Het |
Rims1 |
T |
A |
1: 22,577,592 (GRCm39) |
D218V |
probably damaging |
Het |
Skint10 |
T |
C |
4: 112,568,790 (GRCm39) |
N309S |
possibly damaging |
Het |
Slc6a1 |
T |
C |
6: 114,279,584 (GRCm39) |
M121T |
possibly damaging |
Het |
Slit3 |
A |
G |
11: 35,566,740 (GRCm39) |
D1004G |
probably damaging |
Het |
Snap91 |
C |
T |
9: 86,717,177 (GRCm39) |
V215I |
possibly damaging |
Het |
Son |
T |
C |
16: 91,452,627 (GRCm39) |
L458S |
probably damaging |
Het |
St18 |
C |
T |
1: 6,914,395 (GRCm39) |
A782V |
probably damaging |
Het |
Synpo |
A |
G |
18: 60,735,303 (GRCm39) |
|
probably null |
Het |
Thbs3 |
A |
G |
3: 89,128,684 (GRCm39) |
D458G |
probably damaging |
Het |
Tpr |
C |
T |
1: 150,321,675 (GRCm39) |
R3C |
probably damaging |
Het |
Trp63 |
A |
G |
16: 25,503,105 (GRCm39) |
|
probably null |
Het |
Vmn1r27 |
C |
A |
6: 58,192,581 (GRCm39) |
R141L |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,945,484 (GRCm39) |
I699V |
probably benign |
Het |
Xkr6 |
A |
G |
14: 64,056,353 (GRCm39) |
D88G |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,379,050 (GRCm39) |
|
probably benign |
Het |
Zbtb7b |
T |
C |
3: 89,286,913 (GRCm39) |
|
probably benign |
Het |
Zfp618 |
A |
T |
4: 62,998,265 (GRCm39) |
D33V |
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 |
|
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 |
|
R8338:Bltp3a
|
UTSW |
17 |
28,095,669 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGTCTGATGCCTCCTCAGAC -3'
(R):5'- AGGCAAGGACAACATCTTGTG -3'
Sequencing Primer
(F):5'- TGGAGAGCTACCAGACCCAG -3'
(R):5'- GCATGGTAGAAGTCATTCGATCTCTC -3'
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Posted On |
2016-08-04 |