Incidental Mutation 'R5177:Bltp3a'
ID |
399655 |
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 |
042757-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5177 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28103992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 464
(L464P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114849]
|
AlphaFold |
B2KF50 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114849
AA Change: L464P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110499 Gene: ENSMUSG00000039512 AA Change: L464P
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
97% (71/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,115,639 (GRCm39) |
R575Q |
probably damaging |
Het |
Arhgap22 |
T |
G |
14: 33,088,650 (GRCm39) |
V377G |
probably benign |
Het |
Asic4 |
T |
C |
1: 75,427,483 (GRCm39) |
I3T |
probably damaging |
Het |
Atp2b4 |
T |
C |
1: 133,656,506 (GRCm39) |
T715A |
probably benign |
Het |
Ccdc180 |
A |
T |
4: 45,917,508 (GRCm39) |
H283L |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,152,683 (GRCm39) |
S176P |
probably benign |
Het |
Cfb |
A |
G |
17: 35,078,002 (GRCm39) |
V976A |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,595,989 (GRCm39) |
T1250A |
probably damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dcbld1 |
T |
A |
10: 52,180,730 (GRCm39) |
D131E |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,026,651 (GRCm39) |
S1920P |
probably damaging |
Het |
Dnajc13 |
G |
A |
9: 104,108,185 (GRCm39) |
H197Y |
probably benign |
Het |
Dpy19l1 |
C |
T |
9: 24,349,924 (GRCm39) |
|
probably null |
Het |
Ears2 |
A |
G |
7: 121,643,683 (GRCm39) |
|
probably benign |
Het |
Epgn |
A |
C |
5: 91,176,136 (GRCm39) |
|
probably benign |
Het |
Ern1 |
T |
C |
11: 106,302,601 (GRCm39) |
T418A |
probably benign |
Het |
F12 |
G |
A |
13: 55,567,981 (GRCm39) |
P476S |
probably benign |
Het |
Gal3st2c |
C |
T |
1: 93,936,930 (GRCm39) |
Q292* |
probably null |
Het |
Galnt7 |
C |
A |
8: 58,037,061 (GRCm39) |
Q109H |
possibly damaging |
Het |
Gimap1 |
G |
T |
6: 48,720,032 (GRCm39) |
G215W |
probably damaging |
Het |
Gm28042 |
T |
A |
2: 119,872,082 (GRCm39) |
|
probably null |
Het |
Gm5414 |
A |
G |
15: 101,534,252 (GRCm39) |
I284T |
possibly damaging |
Het |
Hddc3 |
A |
G |
7: 79,992,914 (GRCm39) |
E10G |
probably damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,305,266 (GRCm39) |
K31E |
probably damaging |
Het |
Hspg2 |
A |
C |
4: 137,246,083 (GRCm39) |
Y989S |
probably damaging |
Het |
Kif12 |
G |
A |
4: 63,086,141 (GRCm39) |
T402M |
probably benign |
Het |
Klhdc4 |
A |
T |
8: 122,540,529 (GRCm39) |
L115* |
probably null |
Het |
Lama2 |
C |
T |
10: 27,066,699 (GRCm39) |
V1061M |
possibly damaging |
Het |
Llgl1 |
C |
T |
11: 60,602,833 (GRCm39) |
T836I |
possibly damaging |
Het |
Map4k4 |
A |
G |
1: 40,025,922 (GRCm39) |
D304G |
probably damaging |
Het |
Matn2 |
A |
G |
15: 34,433,660 (GRCm39) |
Q915R |
possibly damaging |
Het |
Myo18a |
A |
G |
11: 77,755,668 (GRCm39) |
|
probably benign |
Het |
Myorg |
C |
A |
4: 41,498,407 (GRCm39) |
E408* |
probably null |
Het |
Nbn |
A |
T |
4: 15,965,132 (GRCm39) |
|
probably null |
Het |
Nek8 |
G |
A |
11: 78,061,297 (GRCm39) |
Q383* |
probably null |
Het |
Nme7 |
T |
G |
1: 164,208,245 (GRCm39) |
Y304* |
probably null |
Het |
Nol8 |
A |
T |
13: 49,814,588 (GRCm39) |
H214L |
probably benign |
Het |
Nostrin |
A |
T |
2: 69,006,098 (GRCm39) |
I261F |
possibly damaging |
Het |
Oprk1 |
T |
G |
1: 5,672,897 (GRCm39) |
C345G |
probably damaging |
Het |
Or13a18 |
A |
G |
7: 140,190,102 (GRCm39) |
T8A |
probably benign |
Het |
Or52j3 |
A |
T |
7: 102,836,710 (GRCm39) |
I301L |
probably benign |
Het |
Polrmt |
T |
C |
10: 79,573,310 (GRCm39) |
S998G |
probably benign |
Het |
Ppp1r12c |
T |
A |
7: 4,487,495 (GRCm39) |
R393* |
probably null |
Het |
Prpf3 |
T |
A |
3: 95,757,036 (GRCm39) |
|
probably benign |
Het |
Rabl6 |
T |
C |
2: 25,475,385 (GRCm39) |
M563V |
probably benign |
Het |
Rasa2 |
C |
A |
9: 96,426,844 (GRCm39) |
E775* |
probably null |
Het |
Rc3h1 |
G |
T |
1: 160,779,222 (GRCm39) |
V552L |
probably damaging |
Het |
Rhot1 |
A |
T |
11: 80,137,592 (GRCm39) |
N365Y |
possibly damaging |
Het |
Rimbp3 |
G |
A |
16: 17,027,781 (GRCm39) |
V402M |
possibly damaging |
Het |
Rusc2 |
A |
T |
4: 43,421,805 (GRCm39) |
|
probably null |
Het |
Slc25a11 |
T |
C |
11: 70,536,643 (GRCm39) |
E141G |
probably damaging |
Het |
Slc34a1 |
A |
T |
13: 55,548,975 (GRCm39) |
I142F |
probably damaging |
Het |
Socs6 |
A |
C |
18: 88,887,504 (GRCm39) |
Y470* |
probably null |
Het |
Sox12 |
A |
T |
2: 152,239,098 (GRCm39) |
L174Q |
unknown |
Het |
Srl |
A |
G |
16: 4,314,267 (GRCm39) |
|
probably null |
Het |
Tacc1 |
A |
T |
8: 25,691,237 (GRCm39) |
V22E |
probably damaging |
Het |
Thsd7a |
A |
T |
6: 12,379,582 (GRCm39) |
C947* |
probably null |
Het |
Tlr12 |
A |
C |
4: 128,512,169 (GRCm39) |
V27G |
probably damaging |
Het |
Tmprss4 |
C |
A |
9: 45,085,260 (GRCm39) |
V398L |
probably benign |
Het |
Trip6 |
T |
C |
5: 137,310,434 (GRCm39) |
D270G |
probably damaging |
Het |
Uba5 |
T |
G |
9: 103,926,497 (GRCm39) |
N355T |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,006,761 (GRCm39) |
Y1171H |
probably benign |
Het |
Vmn2r57 |
A |
G |
7: 41,049,664 (GRCm39) |
I695T |
probably benign |
Het |
Vmn2r68 |
T |
A |
7: 84,871,199 (GRCm39) |
I695L |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,651,177 (GRCm39) |
M192K |
probably damaging |
Het |
Vps16 |
G |
T |
2: 130,285,288 (GRCm39) |
E782* |
probably null |
Het |
Zfp783 |
A |
G |
6: 47,923,737 (GRCm39) |
|
noncoding transcript |
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 |
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'- TCGTGCCATTACTGACCCTG -3'
(R):5'- CAGGAGGCTGTAATCAACACTCC -3'
Sequencing Primer
(F):5'- GTGCCATTACTGACCCTGGTTTAC -3'
(R):5'- ATGCCAAGGCCTCTCTCAGAG -3'
|
Posted On |
2016-07-06 |