Incidental Mutation 'R9621:Bltp3a'
| ID |
724831 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9621 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28075481-28119014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28105753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 760
(S760T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114849]
|
| AlphaFold |
B2KF50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114849
AA Change: S760T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: S760T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,092,918 (GRCm39) |
T289A |
probably benign |
Het |
| Adnp |
A |
T |
2: 168,024,663 (GRCm39) |
S877R |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,386,090 (GRCm39) |
H555Q |
probably benign |
Het |
| Alg6 |
T |
A |
4: 99,615,131 (GRCm39) |
Y38* |
probably null |
Het |
| Amtn |
C |
A |
5: 88,528,205 (GRCm39) |
Q93K |
probably benign |
Het |
| Ap2b1 |
T |
C |
11: 83,293,424 (GRCm39) |
V937A |
probably damaging |
Het |
| Arih1 |
ATCGTCCGGCTCGTCCTCGTCGTCGTCC |
ATCGTCC |
9: 59,393,520 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,917,512 (GRCm39) |
N711D |
possibly damaging |
Het |
| Bhmt |
A |
G |
13: 93,758,079 (GRCm39) |
S211P |
possibly damaging |
Het |
| Bmp1 |
T |
C |
14: 70,715,306 (GRCm39) |
Y943C |
probably benign |
Het |
| Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
| Cbfb |
A |
C |
8: 105,905,243 (GRCm39) |
T62P |
probably damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,386,355 (GRCm39) |
F249L |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,111,983 (GRCm39) |
F514L |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,866,350 (GRCm39) |
E352G |
|
Het |
| Cep295nl |
G |
A |
11: 118,224,766 (GRCm39) |
P26L |
possibly damaging |
Het |
| Cfdp1 |
A |
G |
8: 112,571,807 (GRCm39) |
V34A |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 46,965,726 (GRCm39) |
I846F |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,050,278 (GRCm39) |
K1464E |
probably damaging |
Het |
| Crybg3 |
T |
C |
16: 59,326,613 (GRCm39) |
D1039G |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,713,116 (GRCm39) |
S778R |
|
Het |
| Daam2 |
C |
T |
17: 49,780,332 (GRCm39) |
C729Y |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,132 (GRCm39) |
H305R |
probably damaging |
Het |
| Dio1 |
C |
T |
4: 107,149,558 (GRCm39) |
C248Y |
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,016,772 (GRCm39) |
A1582S |
probably damaging |
Het |
| Eef1a1 |
A |
T |
9: 78,386,632 (GRCm39) |
D319E |
probably benign |
Het |
| Fam171b |
G |
A |
2: 83,643,109 (GRCm39) |
R6H |
probably damaging |
Het |
| Flnb |
G |
A |
14: 7,926,421 (GRCm38) |
G1822R |
probably damaging |
Het |
| Gabrb1 |
G |
A |
5: 72,279,363 (GRCm39) |
V303I |
possibly damaging |
Het |
| Gli3 |
T |
G |
13: 15,901,253 (GRCm39) |
S1547A |
probably benign |
Het |
| Gm4884 |
A |
T |
7: 40,693,111 (GRCm39) |
N360I |
possibly damaging |
Het |
| Ift70b |
T |
C |
2: 75,768,144 (GRCm39) |
Y203C |
probably damaging |
Het |
| Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
C |
G |
2: 119,280,496 (GRCm39) |
K289N |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,393,870 (GRCm39) |
E1638K |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,274,812 (GRCm39) |
I45F |
unknown |
Het |
| Kif1a |
G |
A |
1: 92,983,445 (GRCm39) |
P684L |
probably benign |
Het |
| Kpnb1 |
A |
T |
11: 97,058,460 (GRCm39) |
S610T |
probably benign |
Het |
| Man1a2 |
A |
G |
3: 100,591,961 (GRCm39) |
V73A |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,235,621 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Muc21 |
T |
A |
17: 35,932,720 (GRCm39) |
T489S |
unknown |
Het |
| Nup210 |
G |
C |
6: 90,994,375 (GRCm39) |
N1774K |
probably benign |
Het |
| Or10p21 |
G |
T |
10: 128,847,759 (GRCm39) |
V202F |
probably benign |
Het |
| Pik3c2b |
T |
C |
1: 132,999,345 (GRCm39) |
S398P |
probably damaging |
Het |
| Pmpca |
A |
G |
2: 26,279,988 (GRCm39) |
T37A |
probably benign |
Het |
| Ppfia1 |
A |
G |
7: 144,052,516 (GRCm39) |
S840P |
probably damaging |
Het |
| Prkcq |
A |
T |
2: 11,261,014 (GRCm39) |
K355N |
probably benign |
Het |
| Prorp |
C |
A |
12: 55,429,042 (GRCm39) |
H538N |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,237,809 (GRCm38) |
K1422R |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,378,523 (GRCm39) |
E2006G |
probably damaging |
Het |
| Qsox1 |
TG |
T |
1: 155,671,135 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
A |
T |
19: 7,251,591 (GRCm39) |
T412S |
probably benign |
Het |
| Rnf224 |
A |
T |
2: 25,126,200 (GRCm39) |
M51K |
probably benign |
Het |
| Robo4 |
A |
G |
9: 37,317,509 (GRCm39) |
D521G |
probably damaging |
Het |
| Sf3b4 |
T |
A |
3: 96,084,115 (GRCm39) |
S360T |
unknown |
Het |
| Sgo2b |
T |
C |
8: 64,380,651 (GRCm39) |
D727G |
probably damaging |
Het |
| Smpd2 |
C |
A |
10: 41,364,283 (GRCm39) |
V172L |
probably benign |
Het |
| Spring1 |
C |
T |
5: 118,393,880 (GRCm39) |
T86I |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,273,887 (GRCm39) |
A1966T |
probably benign |
Het |
| Syt13 |
G |
A |
2: 92,745,575 (GRCm39) |
G15D |
possibly damaging |
Het |
| Taf3 |
A |
T |
2: 9,923,070 (GRCm39) |
L18Q |
unknown |
Het |
| Tcam1 |
T |
A |
11: 106,176,259 (GRCm39) |
N328K |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,193,767 (GRCm39) |
Y222* |
probably null |
Het |
| Timm29 |
A |
T |
9: 21,504,218 (GRCm39) |
|
probably benign |
Het |
| Tmc6 |
T |
C |
11: 117,669,995 (GRCm39) |
D17G |
probably benign |
Het |
| Tmem30a |
T |
A |
9: 79,687,926 (GRCm39) |
D81V |
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,511,501 (GRCm39) |
I195V |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,938,896 (GRCm39) |
V398E |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,748,441 (GRCm39) |
T4203A |
possibly damaging |
Het |
| Ubc |
A |
G |
5: 125,464,511 (GRCm39) |
I272T |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 79,983,785 (GRCm39) |
L337P |
probably damaging |
Het |
| Vmn1r229 |
T |
C |
17: 21,035,315 (GRCm39) |
F187L |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,814,301 (GRCm39) |
M381K |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,342,635 (GRCm39) |
N338S |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,805,892 (GRCm39) |
E9G |
possibly damaging |
Het |
| Zrsr2-ps1 |
G |
A |
11: 22,923,418 (GRCm39) |
R64Q |
possibly damaging |
Het |
| Zswim8 |
T |
A |
14: 20,772,231 (GRCm39) |
S1614T |
probably benign |
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 |
|
|
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 |
|
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'- TCACCCAGATCTCCTTGGAC -3'
(R):5'- TCGAGCCTCACTCTGACATG -3'
Sequencing Primer
(F):5'- AGATCTCCTTGGACTTTGAAGGCAC -3'
(R):5'- TCACTCTGACATGGGCGGTG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation