Incidental Mutation 'R3788:Bltp2'
ID |
272395 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bltp2
|
Ensembl Gene |
ENSMUSG00000010277 |
Gene Name |
bridge-like lipid transfer protein family member 2 |
Synonyms |
2610507B11Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R3788 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 78179123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010421]
[ENSMUST00000046361]
|
AlphaFold |
Q5SYL3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000010421
|
SMART Domains |
Protein: ENSMUSP00000010421 Gene: ENSMUSG00000010277
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
Pfam:Fmp27
|
26 |
475 |
1.6e-45 |
PFAM |
Pfam:Fmp27
|
446 |
674 |
3.2e-24 |
PFAM |
low complexity region
|
719 |
734 |
N/A |
INTRINSIC |
low complexity region
|
785 |
798 |
N/A |
INTRINSIC |
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
Fmp27_GFWDK
|
1028 |
1160 |
3.01e-61 |
SMART |
low complexity region
|
1415 |
1421 |
N/A |
INTRINSIC |
low complexity region
|
1690 |
1701 |
N/A |
INTRINSIC |
Pfam:Apt1
|
1703 |
2176 |
2.4e-112 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000046361
|
SMART Domains |
Protein: ENSMUSP00000038139 Gene: ENSMUSG00000037593
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
73 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
99 |
268 |
1.7e-39 |
PFAM |
Pfam:Pkinase_Tyr
|
100 |
262 |
7.8e-17 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122937
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126928
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130947
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147795
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147549
|
Meta Mutation Damage Score |
0.9589 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,846,561 (GRCm39) |
V26E |
possibly damaging |
Het |
Abhd16a |
A |
G |
17: 35,320,563 (GRCm39) |
N411S |
probably damaging |
Het |
Akap13 |
G |
A |
7: 75,351,901 (GRCm39) |
|
probably null |
Het |
Aph1b |
T |
C |
9: 66,701,348 (GRCm39) |
|
probably benign |
Het |
Aspm |
C |
T |
1: 139,390,941 (GRCm39) |
T742I |
probably damaging |
Het |
Bclaf3 |
A |
G |
X: 158,349,492 (GRCm39) |
H619R |
probably benign |
Het |
Cemip |
A |
T |
7: 83,593,106 (GRCm39) |
L1199H |
probably damaging |
Het |
Chd2 |
G |
A |
7: 73,096,878 (GRCm39) |
|
probably benign |
Het |
Clnk |
A |
G |
5: 38,872,341 (GRCm39) |
Y310H |
probably damaging |
Het |
Crmp1 |
A |
G |
5: 37,441,484 (GRCm39) |
D522G |
probably damaging |
Het |
Cyth3 |
A |
G |
5: 143,622,298 (GRCm39) |
|
probably benign |
Het |
Dcbld1 |
T |
A |
10: 52,195,754 (GRCm39) |
Y392N |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,454,056 (GRCm39) |
F1820L |
probably damaging |
Het |
Galnt18 |
G |
A |
7: 111,119,322 (GRCm39) |
R385* |
probably null |
Het |
Gpatch3 |
C |
A |
4: 133,302,479 (GRCm39) |
R137S |
possibly damaging |
Het |
Gpc6 |
C |
T |
14: 117,861,878 (GRCm39) |
P265S |
probably damaging |
Het |
Harbi1 |
T |
A |
2: 91,550,952 (GRCm39) |
D308E |
probably benign |
Het |
Hdhd2 |
G |
A |
18: 77,042,883 (GRCm39) |
|
probably null |
Het |
Hk1 |
T |
C |
10: 62,111,467 (GRCm39) |
K737E |
possibly damaging |
Het |
Hnrnpr |
G |
A |
4: 136,063,624 (GRCm39) |
V345M |
probably damaging |
Het |
Ift56 |
T |
A |
6: 38,380,459 (GRCm39) |
|
probably null |
Het |
Kalrn |
T |
C |
16: 34,040,610 (GRCm39) |
H944R |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,401,833 (GRCm39) |
C207S |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt75 |
C |
T |
15: 101,481,956 (GRCm39) |
G104D |
possibly damaging |
Het |
Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
Map2 |
A |
G |
1: 66,456,022 (GRCm39) |
T1512A |
probably damaging |
Het |
Marchf10 |
T |
A |
11: 105,287,905 (GRCm39) |
L132F |
probably damaging |
Het |
Mfrp |
G |
A |
9: 44,016,754 (GRCm39) |
W65* |
probably null |
Het |
Mgat5 |
A |
G |
1: 127,294,180 (GRCm39) |
D174G |
probably benign |
Het |
Miga2 |
T |
A |
2: 30,261,237 (GRCm39) |
Y177* |
probably null |
Het |
Mroh3 |
T |
C |
1: 136,113,213 (GRCm39) |
D747G |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,417,571 (GRCm39) |
T3506A |
possibly damaging |
Het |
Myo7b |
G |
T |
18: 32,107,165 (GRCm39) |
P1277T |
possibly damaging |
Het |
Naaa |
C |
T |
5: 92,420,413 (GRCm39) |
|
probably null |
Het |
Ndufs2 |
T |
C |
1: 171,062,889 (GRCm39) |
D410G |
possibly damaging |
Het |
Or51a25 |
A |
G |
7: 102,372,694 (GRCm39) |
|
probably null |
Het |
Or5p78 |
T |
A |
7: 108,212,280 (GRCm39) |
Y255* |
probably null |
Het |
Or7e177 |
A |
G |
9: 20,211,666 (GRCm39) |
I58V |
probably benign |
Het |
Or8g35 |
A |
G |
9: 39,381,365 (GRCm39) |
I219T |
probably benign |
Het |
Osbp |
A |
T |
19: 11,956,285 (GRCm39) |
Y409F |
probably benign |
Het |
Plxnb1 |
T |
A |
9: 108,938,355 (GRCm39) |
V1303D |
possibly damaging |
Het |
Prkcg |
G |
A |
7: 3,362,263 (GRCm39) |
D246N |
probably damaging |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Sbf1 |
G |
A |
15: 89,183,731 (GRCm39) |
R1261* |
probably null |
Het |
Scn4a |
T |
C |
11: 106,235,100 (GRCm39) |
N341S |
probably damaging |
Het |
Sec61a2 |
C |
A |
2: 5,884,436 (GRCm39) |
|
probably null |
Het |
Sgcd |
T |
A |
11: 47,246,032 (GRCm39) |
K57* |
probably null |
Het |
Sinhcaf |
A |
G |
6: 148,827,617 (GRCm39) |
S134P |
possibly damaging |
Het |
Slc12a5 |
T |
C |
2: 164,835,695 (GRCm39) |
L861P |
probably damaging |
Het |
Slc6a16 |
A |
G |
7: 44,909,386 (GRCm39) |
D184G |
probably benign |
Het |
Snx7 |
A |
G |
3: 117,632,639 (GRCm39) |
|
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,795,950 (GRCm39) |
I1710V |
probably damaging |
Het |
Sytl2 |
A |
T |
7: 90,025,289 (GRCm39) |
I426F |
probably benign |
Het |
Tdp1 |
A |
G |
12: 99,858,011 (GRCm39) |
|
probably benign |
Het |
Tmem232 |
C |
A |
17: 65,689,628 (GRCm39) |
D496Y |
possibly damaging |
Het |
Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,775,618 (GRCm39) |
E1854G |
unknown |
Het |
Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,300,887 (GRCm39) |
T630S |
probably benign |
Het |
Xrcc1 |
G |
C |
7: 24,266,333 (GRCm39) |
A220P |
probably benign |
Het |
|
Other mutations in Bltp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00334:Bltp2
|
APN |
11 |
78,160,400 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL00497:Bltp2
|
APN |
11 |
78,163,759 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00797:Bltp2
|
APN |
11 |
78,163,976 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01695:Bltp2
|
APN |
11 |
78,156,019 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02055:Bltp2
|
APN |
11 |
78,177,457 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02066:Bltp2
|
APN |
11 |
78,164,058 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02231:Bltp2
|
APN |
11 |
78,170,722 (GRCm39) |
missense |
probably benign |
|
IGL02282:Bltp2
|
APN |
11 |
78,175,054 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02293:Bltp2
|
APN |
11 |
78,162,736 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02336:Bltp2
|
APN |
11 |
78,179,858 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02528:Bltp2
|
APN |
11 |
78,162,802 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03231:Bltp2
|
APN |
11 |
78,159,528 (GRCm39) |
missense |
probably benign |
0.02 |
R0003:Bltp2
|
UTSW |
11 |
78,177,404 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0197:Bltp2
|
UTSW |
11 |
78,160,530 (GRCm39) |
unclassified |
probably benign |
|
R0244:Bltp2
|
UTSW |
11 |
78,177,317 (GRCm39) |
splice site |
probably null |
|
R0281:Bltp2
|
UTSW |
11 |
78,162,750 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0396:Bltp2
|
UTSW |
11 |
78,159,203 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0624:Bltp2
|
UTSW |
11 |
78,159,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R0666:Bltp2
|
UTSW |
11 |
78,168,038 (GRCm39) |
nonsense |
probably null |
|
R0666:Bltp2
|
UTSW |
11 |
78,178,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R1313:Bltp2
|
UTSW |
11 |
78,156,498 (GRCm39) |
missense |
probably benign |
0.02 |
R1313:Bltp2
|
UTSW |
11 |
78,156,498 (GRCm39) |
missense |
probably benign |
0.02 |
R1443:Bltp2
|
UTSW |
11 |
78,153,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R1485:Bltp2
|
UTSW |
11 |
78,176,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R1500:Bltp2
|
UTSW |
11 |
78,174,958 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1537:Bltp2
|
UTSW |
11 |
78,180,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R1543:Bltp2
|
UTSW |
11 |
78,166,000 (GRCm39) |
missense |
probably benign |
0.44 |
R1702:Bltp2
|
UTSW |
11 |
78,179,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R1804:Bltp2
|
UTSW |
11 |
78,164,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R1835:Bltp2
|
UTSW |
11 |
78,178,576 (GRCm39) |
missense |
probably damaging |
0.97 |
R1852:Bltp2
|
UTSW |
11 |
78,159,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Bltp2
|
UTSW |
11 |
78,178,755 (GRCm39) |
unclassified |
probably benign |
|
R1986:Bltp2
|
UTSW |
11 |
78,165,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R1987:Bltp2
|
UTSW |
11 |
78,158,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Bltp2
|
UTSW |
11 |
78,159,575 (GRCm39) |
nonsense |
probably null |
|
R2113:Bltp2
|
UTSW |
11 |
78,159,598 (GRCm39) |
missense |
probably benign |
0.02 |
R3692:Bltp2
|
UTSW |
11 |
78,160,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R3835:Bltp2
|
UTSW |
11 |
78,169,911 (GRCm39) |
missense |
probably benign |
0.17 |
R3882:Bltp2
|
UTSW |
11 |
78,153,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R3943:Bltp2
|
UTSW |
11 |
78,160,350 (GRCm39) |
nonsense |
probably null |
|
R3944:Bltp2
|
UTSW |
11 |
78,160,350 (GRCm39) |
nonsense |
probably null |
|
R3945:Bltp2
|
UTSW |
11 |
78,180,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R4196:Bltp2
|
UTSW |
11 |
78,154,382 (GRCm39) |
intron |
probably benign |
|
R4510:Bltp2
|
UTSW |
11 |
78,168,154 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4511:Bltp2
|
UTSW |
11 |
78,168,154 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4756:Bltp2
|
UTSW |
11 |
78,154,854 (GRCm39) |
missense |
probably damaging |
0.98 |
R5337:Bltp2
|
UTSW |
11 |
78,156,034 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5419:Bltp2
|
UTSW |
11 |
78,162,916 (GRCm39) |
nonsense |
probably null |
|
R5572:Bltp2
|
UTSW |
11 |
78,155,393 (GRCm39) |
missense |
probably damaging |
0.98 |
R5719:Bltp2
|
UTSW |
11 |
78,164,071 (GRCm39) |
missense |
probably damaging |
0.97 |
R5754:Bltp2
|
UTSW |
11 |
78,160,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R5890:Bltp2
|
UTSW |
11 |
78,164,096 (GRCm39) |
nonsense |
probably null |
|
R5919:Bltp2
|
UTSW |
11 |
78,180,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R5925:Bltp2
|
UTSW |
11 |
78,175,064 (GRCm39) |
missense |
probably benign |
0.06 |
R5976:Bltp2
|
UTSW |
11 |
78,174,955 (GRCm39) |
missense |
probably benign |
0.00 |
R5999:Bltp2
|
UTSW |
11 |
78,176,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Bltp2
|
UTSW |
11 |
78,162,210 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6180:Bltp2
|
UTSW |
11 |
78,164,084 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6484:Bltp2
|
UTSW |
11 |
78,169,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R6721:Bltp2
|
UTSW |
11 |
78,170,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R6800:Bltp2
|
UTSW |
11 |
78,179,105 (GRCm39) |
missense |
probably benign |
0.13 |
R6911:Bltp2
|
UTSW |
11 |
78,159,179 (GRCm39) |
missense |
probably damaging |
0.99 |
R6923:Bltp2
|
UTSW |
11 |
78,165,452 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7283:Bltp2
|
UTSW |
11 |
78,165,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Bltp2
|
UTSW |
11 |
78,163,709 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7339:Bltp2
|
UTSW |
11 |
78,163,210 (GRCm39) |
critical splice donor site |
probably null |
|
R7409:Bltp2
|
UTSW |
11 |
78,159,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R7473:Bltp2
|
UTSW |
11 |
78,157,941 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7704:Bltp2
|
UTSW |
11 |
78,159,570 (GRCm39) |
missense |
probably benign |
0.29 |
R7793:Bltp2
|
UTSW |
11 |
78,164,031 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8051:Bltp2
|
UTSW |
11 |
78,164,238 (GRCm39) |
intron |
probably benign |
|
R8186:Bltp2
|
UTSW |
11 |
78,177,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R8256:Bltp2
|
UTSW |
11 |
78,167,979 (GRCm39) |
missense |
probably benign |
0.00 |
R8518:Bltp2
|
UTSW |
11 |
78,156,064 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8677:Bltp2
|
UTSW |
11 |
78,174,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R8736:Bltp2
|
UTSW |
11 |
78,178,875 (GRCm39) |
missense |
probably benign |
0.26 |
R8829:Bltp2
|
UTSW |
11 |
78,158,064 (GRCm39) |
missense |
probably benign |
0.02 |
R8832:Bltp2
|
UTSW |
11 |
78,158,064 (GRCm39) |
missense |
probably benign |
0.02 |
R9006:Bltp2
|
UTSW |
11 |
78,164,345 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9014:Bltp2
|
UTSW |
11 |
78,160,488 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9184:Bltp2
|
UTSW |
11 |
78,162,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R9473:Bltp2
|
UTSW |
11 |
78,174,983 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Bltp2
|
UTSW |
11 |
78,177,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGAGTGGCAGCCTAAAGC -3'
(R):5'- GGTAGCAACAGGGTTTCTTTGTATATC -3'
Sequencing Primer
(F):5'- CAGCTTCAGGAAGAGAGTCACTG -3'
(R):5'- CTCTGCTTCCCAAGTGCTGAG -3'
|
Posted On |
2015-03-25 |