Incidental Mutation 'R0197:Bltp2'
| ID |
23508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bltp2
|
| Ensembl Gene |
ENSMUSG00000010277 |
| Gene Name |
bridge-like lipid transfer protein family member 2 |
| Synonyms |
2610507B11Rik |
| MMRRC Submission |
038456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R0197 (G1)
|
| Quality Score |
180 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to C
at 78160530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010421]
|
| AlphaFold |
Q5SYL3 |
| Predicted Effect |
probably benign
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 |
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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.5%
- 20x: 75.9%
|
| Validation Efficiency |
97% (121/125) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,775,632 (GRCm39) |
L1607P |
probably damaging |
Het |
| 1700016H13Rik |
T |
C |
5: 103,796,687 (GRCm39) |
*118W |
probably null |
Het |
| Abcc2 |
A |
T |
19: 43,815,053 (GRCm39) |
R1147* |
probably null |
Het |
| Acsbg3 |
A |
T |
17: 57,190,835 (GRCm39) |
N468Y |
probably benign |
Het |
| Agap2 |
A |
G |
10: 126,927,571 (GRCm39) |
T1131A |
possibly damaging |
Het |
| Aldh9a1 |
A |
G |
1: 167,189,416 (GRCm39) |
D388G |
probably damaging |
Het |
| Ap3d1 |
G |
T |
10: 80,565,876 (GRCm39) |
A97E |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,012,636 (GRCm39) |
V320E |
probably damaging |
Het |
| Baiap2l1 |
C |
A |
5: 144,202,820 (GRCm39) |
V498L |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,762,633 (GRCm39) |
N437S |
probably benign |
Het |
| Cert1 |
T |
A |
13: 96,685,795 (GRCm39) |
Y63N |
probably benign |
Het |
| Cfap119 |
T |
C |
7: 127,184,034 (GRCm39) |
E261G |
probably damaging |
Het |
| Cfap20dc |
C |
T |
14: 8,518,695 (GRCm38) |
G254R |
probably damaging |
Het |
| Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
| Cstf2t |
A |
T |
19: 31,062,026 (GRCm39) |
M521L |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,881,619 (GRCm39) |
K90E |
possibly damaging |
Het |
| Dmp1 |
A |
G |
5: 104,355,496 (GRCm39) |
E32G |
possibly damaging |
Het |
| Espnl |
T |
G |
1: 91,272,211 (GRCm39) |
Y524D |
probably damaging |
Het |
| Fam20c |
T |
C |
5: 138,741,479 (GRCm39) |
L30P |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,479,590 (GRCm39) |
A2879S |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,931,732 (GRCm39) |
V337D |
probably damaging |
Het |
| Gart |
C |
A |
16: 91,420,291 (GRCm39) |
D851Y |
possibly damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,615 (GRCm39) |
H234R |
probably damaging |
Het |
| Gemin6 |
T |
A |
17: 80,535,524 (GRCm39) |
H161Q |
probably damaging |
Het |
| Glt6d1 |
A |
G |
2: 25,684,082 (GRCm39) |
I308T |
probably benign |
Het |
| Gm10320 |
T |
C |
13: 98,628,491 (GRCm39) |
T7A |
probably benign |
Het |
| Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
| Gmpr2 |
T |
A |
14: 55,910,192 (GRCm39) |
D7E |
possibly damaging |
Het |
| Hc |
A |
G |
2: 34,874,762 (GRCm39) |
Y1620H |
probably damaging |
Het |
| Hoxa3 |
T |
C |
6: 52,147,123 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
| Kdr |
G |
T |
5: 76,129,082 (GRCm39) |
T188N |
possibly damaging |
Het |
| Lepr |
A |
T |
4: 101,609,349 (GRCm39) |
D312V |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,880,329 (GRCm39) |
V501A |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,699,216 (GRCm39) |
Y267C |
probably damaging |
Het |
| Med13 |
T |
A |
11: 86,197,864 (GRCm39) |
T736S |
probably benign |
Het |
| Med13l |
T |
C |
5: 118,809,067 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Ndrg2 |
T |
A |
14: 52,144,460 (GRCm39) |
|
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,543 (GRCm39) |
S365T |
possibly damaging |
Het |
| Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
| Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
| Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
| Or51e1 |
T |
A |
7: 102,359,202 (GRCm39) |
H245Q |
probably damaging |
Het |
| Pds5b |
C |
A |
5: 150,677,896 (GRCm39) |
Q505K |
probably benign |
Het |
| Pramel22 |
C |
T |
4: 143,383,010 (GRCm39) |
E70K |
possibly damaging |
Het |
| Rfx2 |
T |
C |
17: 57,110,722 (GRCm39) |
Y88C |
probably damaging |
Het |
| Rpl6 |
T |
C |
5: 121,346,541 (GRCm39) |
V214A |
probably benign |
Het |
| Samd3 |
T |
A |
10: 26,147,752 (GRCm39) |
C476S |
possibly damaging |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Shank1 |
C |
T |
7: 44,001,718 (GRCm39) |
R1146W |
unknown |
Het |
| Smcr8 |
T |
C |
11: 60,668,941 (GRCm39) |
Y30H |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,459,461 (GRCm39) |
|
probably null |
Het |
| Strip1 |
C |
A |
3: 107,521,929 (GRCm39) |
D750Y |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,070,851 (GRCm39) |
K2312E |
possibly damaging |
Het |
| Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
| Tnfaip1 |
A |
T |
11: 78,420,840 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,330 (GRCm39) |
W1754R |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,613,378 (GRCm39) |
P1301L |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Vps41 |
T |
G |
13: 19,038,833 (GRCm39) |
|
probably null |
Het |
| Vps72 |
G |
T |
3: 95,029,894 (GRCm39) |
L304F |
probably damaging |
Het |
| Wiz |
A |
T |
17: 32,575,415 (GRCm39) |
I907N |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,978,119 (GRCm39) |
T765A |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,976,500 (GRCm39) |
H923L |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,742,799 (GRCm39) |
|
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 |
|
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 |
|
|
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'- AGAGCTACGACTGGACACACTGAC -3'
(R):5'- TCACCTTTAAAATGACCCCAGAGCTTG -3'
Sequencing Primer
(F):5'- ACTGGACACACTGACTGTCTTG -3'
(R):5'- TAAGGAAAGATGGACACCAGCTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation