Incidental Mutation 'R5137:Bltp3a'
| ID |
396243 |
| 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 |
042723-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5137 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
| Type of Mutation |
splice site (28 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 28095964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[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 |
noncoding transcript
Transcript: ENSMUST00000130810
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,123,920 (GRCm39) |
V75A |
probably benign |
Het |
| Ace |
G |
C |
11: 105,865,652 (GRCm39) |
W628C |
probably damaging |
Het |
| Adh4 |
T |
C |
3: 138,127,996 (GRCm39) |
S141P |
probably benign |
Het |
| Apob |
T |
C |
12: 8,061,384 (GRCm39) |
Y3256H |
possibly damaging |
Het |
| B3galnt1 |
G |
T |
3: 69,482,282 (GRCm39) |
N326K |
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,516,070 (GRCm39) |
F569L |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,732,478 (GRCm39) |
I225V |
probably benign |
Het |
| Cox5b |
A |
G |
1: 36,731,510 (GRCm39) |
|
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,834,332 (GRCm39) |
D1953G |
probably damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,167,215 (GRCm39) |
T707M |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Ebf1 |
G |
A |
11: 44,882,295 (GRCm39) |
R409Q |
probably damaging |
Het |
| Eef2k |
G |
A |
7: 120,484,645 (GRCm39) |
A256T |
probably damaging |
Het |
| Eef2k |
C |
A |
7: 120,484,646 (GRCm39) |
A256D |
probably damaging |
Het |
| Evl |
C |
G |
12: 108,647,781 (GRCm39) |
T294S |
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,573,548 (GRCm39) |
Y288H |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,509,014 (GRCm39) |
|
probably null |
Het |
| Fam171a1 |
T |
C |
2: 3,226,426 (GRCm39) |
Y395H |
probably benign |
Het |
| Gas2l3 |
C |
A |
10: 89,249,837 (GRCm39) |
R427L |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,783,233 (GRCm39) |
I91F |
probably damaging |
Het |
| Gm4884 |
T |
C |
7: 40,692,318 (GRCm39) |
S96P |
probably damaging |
Het |
| Gprc5d |
T |
A |
6: 135,093,031 (GRCm39) |
D292V |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,355,505 (GRCm39) |
K2252R |
probably benign |
Het |
| Il1rl1 |
A |
T |
1: 40,489,285 (GRCm39) |
M346L |
probably benign |
Het |
| Kcna5 |
A |
T |
6: 126,510,946 (GRCm39) |
V394D |
probably damaging |
Het |
| Kcng4 |
A |
T |
8: 120,352,617 (GRCm39) |
M431K |
possibly damaging |
Het |
| Kifbp |
A |
T |
10: 62,414,020 (GRCm39) |
V46E |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,774,937 (GRCm39) |
F258L |
possibly damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,852,662 (GRCm39) |
C1001S |
probably damaging |
Het |
| Micu1 |
A |
G |
10: 59,663,054 (GRCm39) |
Q328R |
probably benign |
Het |
| Mmp11 |
G |
A |
10: 75,761,290 (GRCm39) |
P437S |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,287,716 (GRCm39) |
F119I |
possibly damaging |
Het |
| Myo6 |
A |
G |
9: 80,149,531 (GRCm39) |
E159G |
probably damaging |
Het |
| Negr1 |
T |
A |
3: 156,721,833 (GRCm39) |
Y136N |
probably damaging |
Het |
| Nol9 |
T |
A |
4: 152,130,428 (GRCm39) |
C321S |
probably damaging |
Het |
| Nos1 |
T |
C |
5: 118,043,378 (GRCm39) |
F551S |
probably benign |
Het |
| Nup153 |
C |
A |
13: 46,837,629 (GRCm39) |
G1198C |
probably damaging |
Het |
| Omd |
T |
C |
13: 49,743,552 (GRCm39) |
S201P |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or1e35 |
T |
C |
11: 73,797,452 (GRCm39) |
I289V |
probably damaging |
Het |
| Or4c120 |
C |
A |
2: 89,000,744 (GRCm39) |
V271F |
probably benign |
Het |
| Or51l14 |
A |
G |
7: 103,100,919 (GRCm39) |
Y125C |
probably damaging |
Het |
| Or51l14 |
C |
A |
7: 103,100,920 (GRCm39) |
Y125* |
probably null |
Het |
| Oxct1 |
G |
T |
15: 4,064,832 (GRCm39) |
A57S |
probably benign |
Het |
| Pcdhga7 |
T |
G |
18: 37,850,433 (GRCm39) |
S813R |
probably damaging |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,787 (GRCm39) |
I255F |
possibly damaging |
Het |
| Pdk1 |
T |
G |
2: 71,713,913 (GRCm39) |
M186R |
possibly damaging |
Het |
| Pelp1 |
T |
C |
11: 70,285,925 (GRCm39) |
T648A |
probably damaging |
Het |
| Phldb2 |
A |
T |
16: 45,628,621 (GRCm39) |
S570R |
possibly damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,690 (GRCm39) |
T379S |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,299,992 (GRCm39) |
T270A |
possibly damaging |
Het |
| Reln |
C |
T |
5: 22,160,179 (GRCm39) |
G2130D |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,358,844 (GRCm39) |
Y663* |
probably null |
Het |
| Rit2 |
T |
C |
18: 31,286,817 (GRCm39) |
T123A |
probably benign |
Het |
| Rmdn2 |
A |
T |
17: 79,975,418 (GRCm39) |
E302D |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,801,283 (GRCm39) |
E827G |
possibly damaging |
Het |
| Siglec1 |
C |
T |
2: 130,923,264 (GRCm39) |
G494R |
probably damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,890,318 (GRCm39) |
Y329F |
probably damaging |
Het |
| Slc35d1 |
A |
T |
4: 103,071,978 (GRCm39) |
L8Q |
possibly damaging |
Het |
| Smpdl3a |
C |
T |
10: 57,677,163 (GRCm39) |
S57L |
possibly damaging |
Het |
| Snx9 |
T |
C |
17: 5,978,528 (GRCm39) |
V566A |
probably damaging |
Het |
| Spaca1 |
A |
T |
4: 34,029,095 (GRCm39) |
I126N |
probably damaging |
Het |
| Spred1 |
T |
G |
2: 116,994,052 (GRCm39) |
I94S |
probably damaging |
Het |
| Tardbp |
T |
C |
4: 148,706,494 (GRCm39) |
D105G |
possibly damaging |
Het |
| Tet2 |
T |
C |
3: 133,182,326 (GRCm39) |
S1213G |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,196,121 (GRCm39) |
|
probably benign |
Het |
| Trem3 |
G |
A |
17: 48,556,756 (GRCm39) |
V76M |
possibly damaging |
Het |
| Ttc13 |
G |
T |
8: 125,421,674 (GRCm39) |
Y250* |
probably null |
Het |
| Ttll5 |
T |
G |
12: 85,969,819 (GRCm39) |
S714R |
possibly damaging |
Het |
| Ube2l6 |
T |
G |
2: 84,633,220 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,803,679 (GRCm39) |
S1090P |
probably damaging |
Het |
| Vezt |
T |
C |
10: 93,806,372 (GRCm39) |
T680A |
probably benign |
Het |
| Virma |
A |
G |
4: 11,546,297 (GRCm39) |
K1762E |
probably damaging |
Het |
| Vps53 |
A |
G |
11: 76,057,074 (GRCm39) |
S57P |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,236,822 (GRCm39) |
D130Y |
probably damaging |
Het |
| Vwa8 |
T |
G |
14: 79,302,342 (GRCm39) |
F1004V |
probably damaging |
Het |
| Zfp35 |
A |
T |
18: 24,137,194 (GRCm39) |
K513* |
probably null |
Het |
| Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,013,472 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,978,505 (GRCm39) |
C636F |
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 |
|
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'- ACTAGGGTCTACTGCAATCGG -3'
(R):5'- CCCAAGGGAATTTAAGAATGGTGC -3'
Sequencing Primer
(F):5'- GTCTACTGCAATCGGGCCTC -3'
(R):5'- GGAATTTAAGAATGGTGCTTGAGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation