Incidental Mutation 'R0244:Bltp2'
ID |
157148 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bltp2
|
Ensembl Gene |
ENSMUSG00000010277 |
Gene Name |
bridge-like lipid transfer protein family member 2 |
Synonyms |
2610507B11Rik |
MMRRC Submission |
038482-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.954)
|
Stock # |
R0244 (G1)
|
Quality Score |
105 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 78177317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038139
(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 null
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: ENSMUST00000147432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147549
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
99% (88/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
A |
T |
14: 68,806,172 (GRCm39) |
C434* |
probably null |
Het |
Adprhl1 |
A |
G |
8: 13,292,391 (GRCm39) |
|
probably benign |
Het |
Ago1 |
T |
A |
4: 126,357,499 (GRCm39) |
I59F |
possibly damaging |
Het |
Arel1 |
T |
C |
12: 84,967,467 (GRCm39) |
T786A |
probably damaging |
Het |
Arhgap26 |
A |
G |
18: 39,496,184 (GRCm39) |
K117R |
probably benign |
Het |
Atp6v0b |
C |
T |
4: 117,741,819 (GRCm39) |
G204D |
probably damaging |
Het |
Bace2 |
T |
A |
16: 97,237,973 (GRCm39) |
|
probably null |
Het |
Camk4 |
G |
A |
18: 33,312,678 (GRCm39) |
|
probably null |
Het |
Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
Cep152 |
T |
C |
2: 125,406,134 (GRCm39) |
E1466G |
probably benign |
Het |
Ces3b |
T |
C |
8: 105,819,267 (GRCm39) |
F441S |
probably damaging |
Het |
Cfap52 |
T |
C |
11: 67,817,208 (GRCm39) |
T562A |
possibly damaging |
Het |
Clca3a2 |
C |
A |
3: 144,519,659 (GRCm39) |
M238I |
possibly damaging |
Het |
Cntnap5c |
A |
T |
17: 58,409,163 (GRCm39) |
D467V |
probably damaging |
Het |
Col7a1 |
T |
A |
9: 108,801,252 (GRCm39) |
|
probably null |
Het |
Cstf1 |
A |
G |
2: 172,219,630 (GRCm39) |
N247S |
possibly damaging |
Het |
Dffb |
G |
T |
4: 154,059,072 (GRCm39) |
N68K |
probably benign |
Het |
Dnaaf10 |
T |
C |
11: 17,179,851 (GRCm39) |
L284P |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,122,341 (GRCm39) |
G595S |
probably benign |
Het |
Eftud2 |
T |
A |
11: 102,755,551 (GRCm39) |
I228F |
probably damaging |
Het |
Elmo3 |
T |
C |
8: 106,035,803 (GRCm39) |
V578A |
probably benign |
Het |
Elp2 |
A |
G |
18: 24,764,528 (GRCm39) |
D625G |
possibly damaging |
Het |
Ep300 |
C |
T |
15: 81,524,329 (GRCm39) |
P1386S |
unknown |
Het |
Fam120b |
A |
G |
17: 15,637,899 (GRCm39) |
D610G |
probably damaging |
Het |
Fastk |
A |
T |
5: 24,647,176 (GRCm39) |
|
probably benign |
Het |
Fbxl6 |
A |
G |
15: 76,421,391 (GRCm39) |
S252P |
probably damaging |
Het |
Fbxo43 |
T |
C |
15: 36,161,939 (GRCm39) |
K423E |
probably damaging |
Het |
Filip1 |
T |
A |
9: 79,726,744 (GRCm39) |
E625V |
possibly damaging |
Het |
Fkbp9 |
T |
A |
6: 56,833,363 (GRCm39) |
Y283* |
probably null |
Het |
Gigyf2 |
T |
A |
1: 87,306,737 (GRCm39) |
D142E |
possibly damaging |
Het |
Gm10142 |
T |
C |
10: 77,551,848 (GRCm39) |
|
probably null |
Het |
Golga5 |
T |
C |
12: 102,442,447 (GRCm39) |
V262A |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,467,668 (GRCm39) |
V2539A |
probably benign |
Het |
Ica1 |
G |
T |
6: 8,653,632 (GRCm39) |
S335* |
probably null |
Het |
Itga1 |
A |
T |
13: 115,143,433 (GRCm39) |
|
probably benign |
Het |
Itgb1 |
T |
C |
8: 129,444,166 (GRCm39) |
|
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,450,550 (GRCm39) |
V1960I |
probably benign |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Kprp |
C |
T |
3: 92,732,718 (GRCm39) |
V111I |
probably benign |
Het |
Lamc3 |
T |
C |
2: 31,830,733 (GRCm39) |
I1490T |
probably damaging |
Het |
Lcp1 |
A |
T |
14: 75,464,441 (GRCm39) |
D554V |
possibly damaging |
Het |
Lgi3 |
A |
G |
14: 70,772,138 (GRCm39) |
T228A |
probably benign |
Het |
Lipa |
A |
T |
19: 34,478,941 (GRCm39) |
F260I |
probably damaging |
Het |
Lrriq1 |
C |
T |
10: 103,051,634 (GRCm39) |
E373K |
probably damaging |
Het |
Map6 |
G |
A |
7: 98,986,043 (GRCm39) |
G649D |
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,044,196 (GRCm39) |
|
probably null |
Het |
Mical3 |
A |
T |
6: 120,934,683 (GRCm39) |
S1799T |
probably benign |
Het |
Mmp23 |
T |
A |
4: 155,736,589 (GRCm39) |
T151S |
probably damaging |
Het |
Myo1d |
T |
A |
11: 80,565,534 (GRCm39) |
N401I |
probably damaging |
Het |
Myo9b |
T |
A |
8: 71,774,457 (GRCm39) |
S323T |
probably damaging |
Het |
Nbn |
G |
T |
4: 15,979,353 (GRCm39) |
W446L |
probably benign |
Het |
Nedd1 |
A |
T |
10: 92,552,127 (GRCm39) |
|
probably benign |
Het |
Ngef |
C |
A |
1: 87,415,684 (GRCm39) |
|
probably benign |
Het |
Nup153 |
A |
T |
13: 46,847,412 (GRCm39) |
N672K |
probably benign |
Het |
Or10d1b |
T |
A |
9: 39,613,469 (GRCm39) |
I199F |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or4e2 |
T |
C |
14: 52,687,969 (GRCm39) |
V33A |
probably benign |
Het |
Or4f57 |
T |
C |
2: 111,791,361 (GRCm39) |
N19S |
probably benign |
Het |
Pakap |
T |
G |
4: 57,710,177 (GRCm39) |
V374G |
possibly damaging |
Het |
Pdlim3 |
C |
A |
8: 46,361,497 (GRCm39) |
|
probably benign |
Het |
Pmfbp1 |
G |
A |
8: 110,268,305 (GRCm39) |
E951K |
probably damaging |
Het |
Pop1 |
T |
A |
15: 34,516,037 (GRCm39) |
C548* |
probably null |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Ptpdc1 |
A |
T |
13: 48,739,456 (GRCm39) |
N658K |
probably benign |
Het |
Ptprk |
A |
C |
10: 28,082,221 (GRCm39) |
E63D |
possibly damaging |
Het |
Rtf1 |
C |
T |
2: 119,563,358 (GRCm39) |
R712W |
probably damaging |
Het |
Samd7 |
A |
C |
3: 30,805,222 (GRCm39) |
T2P |
probably benign |
Het |
Sft2d1 |
A |
G |
17: 8,538,254 (GRCm39) |
T52A |
probably benign |
Het |
Slc25a26 |
A |
G |
6: 94,487,814 (GRCm39) |
H91R |
probably damaging |
Het |
Slc5a4a |
A |
G |
10: 76,024,986 (GRCm39) |
E621G |
possibly damaging |
Het |
Slf1 |
A |
T |
13: 77,274,751 (GRCm39) |
L28* |
probably null |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Sorcs2 |
G |
A |
5: 36,554,897 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
T |
C |
7: 130,353,555 (GRCm39) |
|
probably benign |
Het |
Tas2r140 |
A |
G |
6: 133,032,290 (GRCm39) |
V156A |
possibly damaging |
Het |
Terf2ip |
C |
A |
8: 112,744,796 (GRCm39) |
T371K |
possibly damaging |
Het |
Tifa |
C |
T |
3: 127,590,537 (GRCm39) |
L103F |
probably damaging |
Het |
Tmco3 |
A |
G |
8: 13,342,037 (GRCm39) |
N104D |
probably damaging |
Het |
Tmem259 |
T |
A |
10: 79,814,797 (GRCm39) |
D240V |
probably damaging |
Het |
Trim60 |
C |
T |
8: 65,453,700 (GRCm39) |
R183H |
probably benign |
Het |
Trps1 |
T |
C |
15: 50,528,139 (GRCm39) |
N725D |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,645,150 (GRCm39) |
V12902M |
probably damaging |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Unc79 |
A |
G |
12: 103,079,150 (GRCm39) |
K1772E |
probably damaging |
Het |
Vwde |
C |
T |
6: 13,193,125 (GRCm39) |
V405I |
probably benign |
Het |
Wdr18 |
T |
A |
10: 79,802,242 (GRCm39) |
D290E |
probably damaging |
Het |
Wwc2 |
G |
A |
8: 48,353,756 (GRCm39) |
A126V |
probably benign |
Het |
Zfp882 |
A |
T |
8: 72,667,367 (GRCm39) |
I105F |
possibly damaging |
Het |
Zfp942 |
A |
T |
17: 22,147,553 (GRCm39) |
C359S |
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 |
|
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 |
|
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 |
|
Posted On |
2014-02-14 |