Incidental Mutation 'R3944:Bltp2'
ID |
307610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bltp2
|
Ensembl Gene |
ENSMUSG00000010277 |
Gene Name |
bridge-like lipid transfer protein family member 2 |
Synonyms |
2610507B11Rik |
MMRRC Submission |
040925-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R3944 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 78160350 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 603
(L603*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010421]
|
AlphaFold |
Q5SYL3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000010421
AA Change: L603*
|
SMART Domains |
Protein: ENSMUSP00000010421 Gene: ENSMUSG00000010277 AA Change: L603*
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 |
noncoding transcript
Transcript: ENSMUST00000132756
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136184
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145145
|
SMART Domains |
Protein: ENSMUSP00000119105 Gene: ENSMUSG00000010277
Domain | Start | End | E-Value | Type |
Pfam:Fmp27_GFWDK
|
1 |
52 |
1.2e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
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 |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
6430548M08Rik |
T |
C |
8: 120,879,241 (GRCm39) |
L213P |
probably damaging |
Het |
Akap12 |
A |
G |
10: 4,307,347 (GRCm39) |
K1491E |
probably benign |
Het |
Akr1c12 |
T |
A |
13: 4,329,339 (GRCm39) |
H6L |
probably benign |
Het |
Ankrd50 |
C |
T |
3: 38,506,645 (GRCm39) |
C251Y |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,084,210 (GRCm39) |
I3876V |
possibly damaging |
Het |
Calu |
T |
C |
6: 29,361,710 (GRCm39) |
S125P |
possibly damaging |
Het |
Cdh10 |
A |
G |
15: 18,964,335 (GRCm39) |
T166A |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,755,892 (GRCm39) |
|
probably benign |
Het |
Cntn4 |
T |
G |
6: 106,595,375 (GRCm39) |
N497K |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,793,407 (GRCm39) |
C381S |
probably damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,589,151 (GRCm39) |
N221S |
probably benign |
Het |
Dnaaf5 |
C |
T |
5: 139,138,679 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,176,645 (GRCm39) |
D755G |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,622,197 (GRCm39) |
V418E |
probably damaging |
Het |
Eefsec |
T |
A |
6: 88,275,076 (GRCm39) |
H296L |
probably benign |
Het |
Elmo3 |
T |
C |
8: 106,035,852 (GRCm39) |
|
probably null |
Het |
Gcm1 |
C |
T |
9: 77,967,098 (GRCm39) |
Q106* |
probably null |
Het |
Gnl1 |
G |
T |
17: 36,299,413 (GRCm39) |
G528V |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
H2-T23 |
A |
G |
17: 36,341,535 (GRCm39) |
V312A |
probably benign |
Het |
Hectd4 |
C |
A |
5: 121,441,588 (GRCm39) |
|
probably benign |
Het |
Hoxa7 |
T |
A |
6: 52,193,606 (GRCm39) |
|
probably benign |
Het |
Ifnlr1 |
T |
A |
4: 135,428,539 (GRCm39) |
V122E |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,512,025 (GRCm39) |
M1036T |
probably damaging |
Het |
Khdc1b |
G |
T |
1: 21,455,030 (GRCm39) |
K96N |
probably damaging |
Het |
Kif19a |
A |
T |
11: 114,677,561 (GRCm39) |
Y578F |
probably benign |
Het |
Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
Lyl1 |
A |
C |
8: 85,430,631 (GRCm39) |
T178P |
probably damaging |
Het |
Marchf6 |
A |
G |
15: 31,488,960 (GRCm39) |
V317A |
probably benign |
Het |
Mmp1b |
G |
A |
9: 7,384,708 (GRCm39) |
T280I |
possibly damaging |
Het |
Mpi |
T |
C |
9: 57,452,536 (GRCm39) |
D332G |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
Ntng2 |
G |
A |
2: 29,094,289 (GRCm39) |
L361F |
probably benign |
Het |
Obscn |
A |
T |
11: 59,023,373 (GRCm39) |
I668N |
probably damaging |
Het |
Or52x1 |
A |
T |
7: 104,853,162 (GRCm39) |
C129* |
probably null |
Het |
Or8k40 |
A |
G |
2: 86,584,525 (GRCm39) |
S186P |
probably benign |
Het |
Pabpc1l |
A |
G |
2: 163,884,247 (GRCm39) |
E328G |
probably damaging |
Het |
Pan3 |
A |
T |
5: 147,387,540 (GRCm39) |
N170Y |
probably damaging |
Het |
Prdm2 |
C |
T |
4: 142,858,385 (GRCm39) |
R1635Q |
possibly damaging |
Het |
Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
Rp9 |
A |
C |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
Slc6a12 |
A |
T |
6: 121,331,239 (GRCm39) |
|
probably null |
Het |
Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
Spout1 |
A |
G |
2: 30,064,148 (GRCm39) |
V372A |
probably benign |
Het |
Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
Tab1 |
T |
C |
15: 80,037,941 (GRCm39) |
L258P |
probably damaging |
Het |
Tbl3 |
A |
G |
17: 24,919,682 (GRCm39) |
S791P |
possibly damaging |
Het |
Tcof1 |
C |
A |
18: 60,955,909 (GRCm39) |
D927Y |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Topaz1 |
T |
C |
9: 122,579,669 (GRCm39) |
S860P |
possibly damaging |
Het |
Vill |
T |
C |
9: 118,897,499 (GRCm39) |
I258T |
probably benign |
Het |
Vmn1r204 |
G |
A |
13: 22,741,014 (GRCm39) |
R215H |
probably benign |
Het |
Vmn2r106 |
A |
T |
17: 20,487,913 (GRCm39) |
F829I |
probably damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
Vmn2r58 |
A |
T |
7: 41,513,885 (GRCm39) |
F253I |
probably benign |
Het |
Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
Zfp932 |
T |
A |
5: 110,157,820 (GRCm39) |
V506E |
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 |
R3788:Bltp2
|
UTSW |
11 |
78,179,123 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
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'- CTTTGCCAGGTCTAGTTAGGTAAG -3'
(R):5'- GTGATCCAATCTGGCCCATAG -3'
Sequencing Primer
(F):5'- TGCCAGGTCTAGTTAGGTAAGAGAAG -3'
(R):5'- CTAAAGCATTACCTCTAGAGAGCGG -3'
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Posted On |
2015-04-17 |