Incidental Mutation 'R1164:Bltp3a'
ID |
100873 |
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 |
039237-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1164 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 28114354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114849]
[ENSMUST00000114849]
|
AlphaFold |
B2KF50 |
Predicted Effect |
probably null
Transcript: ENSMUST00000114849
|
SMART Domains |
Protein: ENSMUSP00000110499 Gene: ENSMUSG00000039512
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 |
probably null
Transcript: ENSMUST00000114849
|
SMART Domains |
Protein: ENSMUSP00000110499 Gene: ENSMUSG00000039512
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
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,621,305 (GRCm39) |
M1055K |
probably damaging |
Het |
Adprh |
A |
T |
16: 38,270,702 (GRCm39) |
D34E |
probably benign |
Het |
Aldh1a1 |
A |
T |
19: 20,595,310 (GRCm39) |
M80L |
probably benign |
Het |
Arap2 |
T |
A |
5: 62,840,820 (GRCm39) |
D682V |
probably damaging |
Het |
Atp4a |
T |
A |
7: 30,417,117 (GRCm39) |
L500Q |
probably benign |
Het |
Atp6v1c2 |
T |
C |
12: 17,358,317 (GRCm39) |
E10G |
probably damaging |
Het |
B4galt2 |
G |
A |
4: 117,734,141 (GRCm39) |
R299W |
possibly damaging |
Het |
Brinp1 |
A |
C |
4: 68,716,928 (GRCm39) |
S307A |
probably benign |
Het |
Cacna2d1 |
G |
A |
5: 16,566,874 (GRCm39) |
|
probably null |
Het |
Ccdc3 |
T |
C |
2: 5,146,077 (GRCm39) |
V137A |
possibly damaging |
Het |
Ccnb1ip1 |
T |
C |
14: 51,029,594 (GRCm39) |
K156R |
possibly damaging |
Het |
Cfap77 |
A |
T |
2: 28,852,700 (GRCm39) |
W191R |
probably damaging |
Het |
Chga |
A |
G |
12: 102,529,304 (GRCm39) |
E427G |
probably damaging |
Het |
Chrnd |
A |
T |
1: 87,120,267 (GRCm39) |
Y32F |
probably benign |
Het |
Cks1b |
C |
A |
3: 89,323,249 (GRCm39) |
|
probably benign |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Dip2a |
C |
A |
10: 76,112,231 (GRCm39) |
R1098L |
possibly damaging |
Het |
Dmbx1 |
T |
A |
4: 115,775,455 (GRCm39) |
H275L |
probably damaging |
Het |
Dmrt2 |
A |
G |
19: 25,655,357 (GRCm39) |
M319V |
possibly damaging |
Het |
Dock8 |
A |
G |
19: 25,067,391 (GRCm39) |
Y345C |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,926,103 (GRCm39) |
T668A |
probably benign |
Het |
Eef1d |
A |
G |
15: 75,774,526 (GRCm39) |
|
probably null |
Het |
Epb41l3 |
A |
G |
17: 69,581,762 (GRCm39) |
T568A |
possibly damaging |
Het |
Erc2 |
A |
G |
14: 28,024,929 (GRCm39) |
R603G |
probably damaging |
Het |
Fam83d |
T |
C |
2: 158,625,170 (GRCm39) |
S254P |
probably damaging |
Het |
Fcgr4 |
A |
T |
1: 170,856,739 (GRCm39) |
H202L |
possibly damaging |
Het |
Gm4922 |
C |
T |
10: 18,659,469 (GRCm39) |
A418T |
possibly damaging |
Het |
Kmo |
A |
G |
1: 175,486,125 (GRCm39) |
H416R |
probably benign |
Het |
Lao1 |
A |
G |
4: 118,822,602 (GRCm39) |
N174S |
probably benign |
Het |
Lrwd1 |
A |
T |
5: 136,159,844 (GRCm39) |
H406Q |
probably benign |
Het |
Magoh |
A |
G |
4: 107,744,459 (GRCm39) |
I143V |
probably benign |
Het |
Mpz |
A |
G |
1: 170,986,008 (GRCm39) |
H49R |
possibly damaging |
Het |
Nav1 |
T |
C |
1: 135,400,148 (GRCm39) |
N474S |
probably benign |
Het |
Ndufb10 |
T |
G |
17: 24,941,757 (GRCm39) |
E68D |
probably benign |
Het |
Obscn |
T |
C |
11: 58,926,913 (GRCm39) |
D5534G |
possibly damaging |
Het |
Or13c7d |
T |
C |
4: 43,770,991 (GRCm39) |
T7A |
probably benign |
Het |
Or14j5 |
T |
A |
17: 38,161,575 (GRCm39) |
F31I |
probably damaging |
Het |
Or1j16 |
A |
T |
2: 36,530,132 (GRCm39) |
Y27F |
probably benign |
Het |
Or4d10 |
A |
T |
19: 12,051,605 (GRCm39) |
Y130* |
probably null |
Het |
Or52l1 |
A |
T |
7: 104,830,040 (GRCm39) |
F160Y |
probably benign |
Het |
Or8k30 |
C |
A |
2: 86,339,028 (GRCm39) |
T75K |
probably damaging |
Het |
Padi1 |
A |
T |
4: 140,559,640 (GRCm39) |
V79E |
possibly damaging |
Het |
Pdha2 |
A |
G |
3: 140,917,260 (GRCm39) |
Y83H |
probably damaging |
Het |
Phpt1 |
A |
G |
2: 25,464,727 (GRCm39) |
I42T |
probably damaging |
Het |
Pot1b |
A |
C |
17: 55,981,085 (GRCm39) |
S310A |
probably benign |
Het |
Ptpn13 |
G |
A |
5: 103,637,639 (GRCm39) |
V176I |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,114,689 (GRCm39) |
S189P |
probably damaging |
Het |
Rere |
A |
T |
4: 150,619,341 (GRCm39) |
Q381L |
unknown |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Scn8a |
G |
A |
15: 100,938,043 (GRCm39) |
C1804Y |
probably benign |
Het |
Sema3c |
G |
A |
5: 17,883,312 (GRCm39) |
D307N |
probably benign |
Het |
Siah2 |
T |
C |
3: 58,583,737 (GRCm39) |
E183G |
probably benign |
Het |
Smarca5 |
G |
A |
8: 81,437,260 (GRCm39) |
L699F |
probably damaging |
Het |
Smo |
T |
A |
6: 29,754,718 (GRCm39) |
S263T |
probably benign |
Het |
Sox2 |
A |
G |
3: 34,704,848 (GRCm39) |
E95G |
probably damaging |
Het |
T |
T |
C |
17: 8,658,771 (GRCm39) |
S171P |
probably benign |
Het |
Tmc7 |
G |
T |
7: 118,141,247 (GRCm39) |
A628D |
probably benign |
Het |
Tmem45a2 |
A |
G |
16: 56,869,789 (GRCm39) |
S52P |
probably damaging |
Het |
Tubb3 |
C |
T |
8: 124,148,186 (GRCm39) |
A373V |
probably damaging |
Het |
Upp2 |
A |
G |
2: 58,653,716 (GRCm39) |
Y69C |
probably damaging |
Het |
Utp4 |
A |
G |
8: 107,627,476 (GRCm39) |
|
probably null |
Het |
Vmn1r59 |
T |
A |
7: 5,457,410 (GRCm39) |
M117L |
probably benign |
Het |
Xkr8 |
T |
C |
4: 132,459,722 (GRCm39) |
S19G |
probably benign |
Het |
Zbed6 |
G |
A |
1: 133,586,941 (GRCm39) |
T132I |
probably damaging |
Het |
Zbtb24 |
T |
C |
10: 41,340,523 (GRCm39) |
Y518H |
probably damaging |
Het |
Zfp324 |
T |
C |
7: 12,705,551 (GRCm39) |
I580T |
probably benign |
Het |
Zfp995 |
G |
A |
17: 22,098,960 (GRCm39) |
H425Y |
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 |
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 |
|
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 |
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Posted On |
2014-01-15 |