Incidental Mutation 'R0726:Bltp3a'
ID |
63785 |
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 |
038908-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0726 (G1)
|
Quality Score |
125 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28104463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 503
(V503A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114849]
|
AlphaFold |
B2KF50 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114849
AA Change: V503A
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110499 Gene: ENSMUSG00000039512 AA Change: V503A
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 |
0.2004 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 89.2%
|
Validation Efficiency |
98% (90/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
A |
G |
7: 143,425,498 (GRCm39) |
D49G |
probably damaging |
Het |
Alg12 |
T |
C |
15: 88,690,850 (GRCm39) |
Y256C |
probably damaging |
Het |
Alox15 |
T |
A |
11: 70,241,021 (GRCm39) |
D160V |
probably damaging |
Het |
Aox1 |
T |
C |
1: 58,373,941 (GRCm39) |
|
probably benign |
Het |
Bbs9 |
G |
T |
9: 22,705,119 (GRCm39) |
A729S |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,235,353 (GRCm39) |
|
probably benign |
Het |
Braf |
C |
T |
6: 39,639,082 (GRCm39) |
R223Q |
possibly damaging |
Het |
Cd101 |
A |
T |
3: 100,927,938 (GRCm39) |
S48T |
possibly damaging |
Het |
Cdh9 |
T |
G |
15: 16,831,130 (GRCm39) |
D322E |
probably benign |
Het |
Col28a1 |
C |
T |
6: 8,014,495 (GRCm39) |
|
probably null |
Het |
Cpxm1 |
G |
A |
2: 130,232,859 (GRCm39) |
R712W |
probably damaging |
Het |
Csnk1g1 |
T |
C |
9: 65,939,637 (GRCm39) |
|
probably benign |
Het |
Cyp2d37-ps |
A |
C |
15: 82,574,650 (GRCm39) |
|
noncoding transcript |
Het |
Cyth3 |
T |
C |
5: 143,678,397 (GRCm39) |
V115A |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,856,507 (GRCm39) |
V2885M |
probably damaging |
Het |
Dock9 |
G |
T |
14: 121,889,180 (GRCm39) |
Y326* |
probably null |
Het |
Espl1 |
T |
C |
15: 102,231,033 (GRCm39) |
I1844T |
probably benign |
Het |
Fam20a |
T |
A |
11: 109,568,020 (GRCm39) |
N357Y |
probably damaging |
Het |
Fancc |
C |
A |
13: 63,471,225 (GRCm39) |
R385L |
probably benign |
Het |
Foxe3 |
A |
T |
4: 114,782,447 (GRCm39) |
L255H |
unknown |
Het |
Frem2 |
T |
C |
3: 53,427,047 (GRCm39) |
D2967G |
possibly damaging |
Het |
Gabra6 |
T |
G |
11: 42,205,954 (GRCm39) |
T301P |
probably damaging |
Het |
Ganab |
T |
A |
19: 8,888,477 (GRCm39) |
Y511N |
probably damaging |
Het |
Grm4 |
T |
A |
17: 27,657,412 (GRCm39) |
|
probably benign |
Het |
H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
Kcnj9 |
G |
A |
1: 172,153,488 (GRCm39) |
S212F |
probably damaging |
Het |
Kif15 |
C |
A |
9: 122,788,993 (GRCm39) |
H62N |
probably benign |
Het |
Kptn |
A |
G |
7: 15,854,647 (GRCm39) |
D106G |
probably damaging |
Het |
Krtap13-1 |
T |
A |
16: 88,526,192 (GRCm39) |
S139T |
probably damaging |
Het |
Lepr |
C |
A |
4: 101,622,131 (GRCm39) |
N354K |
probably benign |
Het |
Lypd3 |
G |
T |
7: 24,337,969 (GRCm39) |
E112* |
probably null |
Het |
Med13l |
A |
T |
5: 118,886,749 (GRCm39) |
N1550I |
probably damaging |
Het |
Mettl2 |
C |
T |
11: 105,017,670 (GRCm39) |
P60L |
probably benign |
Het |
Mtcl2 |
G |
T |
2: 156,902,182 (GRCm39) |
R278S |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,590,201 (GRCm39) |
E850G |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Nek1 |
A |
G |
8: 61,542,626 (GRCm39) |
R739G |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,381,039 (GRCm39) |
D584E |
probably benign |
Het |
Nkain3 |
C |
T |
4: 20,158,388 (GRCm39) |
V162M |
possibly damaging |
Het |
Nmrk1 |
T |
C |
19: 18,618,844 (GRCm39) |
|
probably benign |
Het |
Nsd2 |
T |
C |
5: 34,018,372 (GRCm39) |
|
probably benign |
Het |
Or2n1b |
T |
C |
17: 38,459,515 (GRCm39) |
F12S |
probably damaging |
Het |
Or4b1 |
T |
A |
2: 89,979,627 (GRCm39) |
H241L |
probably damaging |
Het |
Or4p23 |
A |
T |
2: 88,576,352 (GRCm39) |
N293K |
probably benign |
Het |
Or5b24 |
T |
A |
19: 12,912,969 (GRCm39) |
V289D |
probably damaging |
Het |
Or8b44 |
T |
A |
9: 38,410,418 (GRCm39) |
M151K |
possibly damaging |
Het |
Otulinl |
A |
T |
15: 27,657,033 (GRCm39) |
I338N |
probably damaging |
Het |
Phex |
T |
A |
X: 156,155,557 (GRCm39) |
|
probably benign |
Het |
Pip5k1b |
G |
T |
19: 24,356,256 (GRCm39) |
D227E |
probably damaging |
Het |
Prdm13 |
A |
G |
4: 21,683,914 (GRCm39) |
I119T |
unknown |
Het |
Rab19 |
G |
T |
6: 39,360,893 (GRCm39) |
V14L |
probably benign |
Het |
Rasa3 |
A |
G |
8: 13,630,118 (GRCm39) |
|
probably benign |
Het |
Rgsl1 |
C |
T |
1: 153,678,074 (GRCm39) |
S118N |
probably damaging |
Het |
Rif1 |
C |
T |
2: 52,000,365 (GRCm39) |
T1273M |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,425,048 (GRCm39) |
T188A |
probably damaging |
Het |
Sh3pxd2a |
C |
T |
19: 47,257,201 (GRCm39) |
E506K |
probably damaging |
Het |
Smarca2 |
A |
T |
19: 26,675,803 (GRCm39) |
K1014N |
probably damaging |
Het |
Smarca4 |
T |
G |
9: 21,611,435 (GRCm39) |
|
probably null |
Het |
Sntb1 |
T |
C |
15: 55,539,752 (GRCm39) |
R361G |
probably benign |
Het |
Stx5a |
T |
A |
19: 8,732,275 (GRCm39) |
I208N |
probably damaging |
Het |
Tas2r102 |
T |
A |
6: 132,739,415 (GRCm39) |
W108R |
probably damaging |
Het |
Tcl1 |
A |
G |
12: 105,184,929 (GRCm39) |
Y94H |
probably damaging |
Het |
Tenm3 |
T |
A |
8: 48,689,629 (GRCm39) |
Y1986F |
probably damaging |
Het |
Tet2 |
G |
A |
3: 133,173,945 (GRCm39) |
P1439L |
probably benign |
Het |
Tiam2 |
T |
C |
17: 3,563,108 (GRCm39) |
|
probably benign |
Het |
Ubap2l |
G |
A |
3: 89,928,553 (GRCm39) |
T526M |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ushbp1 |
T |
A |
8: 71,841,391 (GRCm39) |
|
probably benign |
Het |
Usp28 |
C |
T |
9: 48,915,169 (GRCm39) |
R115C |
probably damaging |
Het |
Vldlr |
A |
T |
19: 27,215,786 (GRCm39) |
D261V |
probably damaging |
Het |
Vmn2r5 |
C |
T |
3: 64,411,186 (GRCm39) |
D461N |
probably benign |
Het |
Vmn2r86 |
A |
T |
10: 130,282,265 (GRCm39) |
F784I |
probably damaging |
Het |
Zfp59 |
A |
T |
7: 27,553,513 (GRCm39) |
I322F |
probably damaging |
Het |
Zfp607a |
A |
T |
7: 27,578,574 (GRCm39) |
H548L |
probably benign |
Het |
Zfp626 |
G |
A |
7: 27,518,048 (GRCm39) |
C343Y |
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 |
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 |
|
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'- GCTGAAATGAGCTTGGACTGGCTAC -3'
(R):5'- ACCCCAGGGCAGTTTTAACTTCAAC -3'
Sequencing Primer
(F):5'- CTTGGACTGGCTACATGGGAC -3'
(R):5'- TTTAACTTCAACAAAACTGACTCGC -3'
|
Posted On |
2013-07-30 |