Incidental Mutation 'R5976:Bltp2'
| ID |
471784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bltp2
|
| Ensembl Gene |
ENSMUSG00000010277 |
| Gene Name |
bridge-like lipid transfer protein family member 2 |
| Synonyms |
2610507B11Rik |
| MMRRC Submission |
044158-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R5976 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78174955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1697
(A1697T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010421]
|
| AlphaFold |
Q5SYL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010421
AA Change: A1697T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: A1697T
| 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: ENSMUST00000126928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147432
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
T |
C |
1: 72,682,450 (GRCm39) |
T1154A |
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,494,855 (GRCm39) |
|
probably null |
Het |
| Arih2 |
A |
T |
9: 108,485,172 (GRCm39) |
*54R |
probably null |
Het |
| AW146154 |
T |
G |
7: 41,129,721 (GRCm39) |
K465T |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,386,540 (GRCm39) |
Y311C |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,536 (GRCm39) |
Y809F |
possibly damaging |
Het |
| Ccnh |
C |
T |
13: 85,338,982 (GRCm39) |
P76L |
probably damaging |
Het |
| Chaf1a |
T |
A |
17: 56,371,115 (GRCm39) |
C667S |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,452,636 (GRCm39) |
Y616N |
probably damaging |
Het |
| Cldn4 |
A |
G |
5: 134,975,410 (GRCm39) |
C64R |
probably damaging |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
C |
A |
3: 86,694,532 (GRCm39) |
R752L |
possibly damaging |
Het |
| Dzank1 |
C |
A |
2: 144,343,409 (GRCm39) |
G318W |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,819,923 (GRCm39) |
I236K |
probably damaging |
Het |
| Eif4e1b |
T |
C |
13: 54,932,635 (GRCm39) |
F75L |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,034,279 (GRCm39) |
Y266C |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,092,773 (GRCm39) |
S509P |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,623,392 (GRCm39) |
M325T |
probably benign |
Het |
| Fah |
A |
G |
7: 84,243,949 (GRCm39) |
M270T |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,378,754 (GRCm39) |
L532P |
probably damaging |
Het |
| Gm10770 |
T |
A |
2: 150,021,320 (GRCm39) |
K66* |
probably null |
Het |
| Gprc5c |
A |
T |
11: 114,755,313 (GRCm39) |
Q330L |
possibly damaging |
Het |
| Grin3a |
T |
A |
4: 49,792,602 (GRCm39) |
H377L |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,529 (GRCm39) |
E221G |
probably damaging |
Het |
| Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
| Ighv1-7 |
T |
A |
12: 114,502,379 (GRCm39) |
E29D |
probably benign |
Het |
| Ing3 |
T |
A |
6: 21,971,173 (GRCm39) |
S326T |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,014 (GRCm39) |
L632P |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,294,614 (GRCm39) |
|
probably null |
Het |
| Kif21a |
T |
G |
15: 90,820,015 (GRCm39) |
D1583A |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,066,672 (GRCm39) |
V1070I |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,419,770 (GRCm39) |
S946R |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,389,897 (GRCm39) |
S1843P |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,597,078 (GRCm39) |
Y517H |
probably damaging |
Het |
| Map2k4 |
T |
A |
11: 65,600,778 (GRCm39) |
N51I |
probably benign |
Het |
| Mfsd2b |
G |
T |
12: 4,916,522 (GRCm39) |
A216D |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,761,268 (GRCm39) |
T2025A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,928 (GRCm39) |
V4162A |
possibly damaging |
Het |
| Nr3c1 |
A |
T |
18: 39,554,602 (GRCm39) |
F599I |
probably damaging |
Het |
| Nsun2 |
T |
G |
13: 69,771,271 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
T |
A |
7: 107,655,005 (GRCm39) |
M272K |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,958,997 (GRCm39) |
V160F |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,726,936 (GRCm39) |
W524R |
probably benign |
Het |
| Paip1 |
T |
A |
13: 119,593,533 (GRCm39) |
D182E |
probably damaging |
Het |
| Pde1a |
G |
A |
2: 79,698,586 (GRCm39) |
Q415* |
probably null |
Het |
| Pfkfb2 |
T |
A |
1: 130,635,816 (GRCm39) |
K72* |
probably null |
Het |
| Pigg |
A |
G |
5: 108,480,057 (GRCm39) |
E444G |
probably null |
Het |
| Plec |
T |
C |
15: 76,073,237 (GRCm39) |
Y669C |
probably damaging |
Het |
| Ptp4a3 |
T |
C |
15: 73,627,885 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,211,625 (GRCm38) |
E969G |
probably damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,551,789 (GRCm39) |
V262E |
probably benign |
Het |
| Ranbp3l |
T |
G |
15: 9,030,916 (GRCm39) |
F65C |
possibly damaging |
Het |
| Rbm19 |
T |
A |
5: 120,278,372 (GRCm39) |
S718R |
probably benign |
Het |
| Recql4 |
C |
A |
15: 76,593,624 (GRCm39) |
R162L |
probably benign |
Het |
| Rest |
T |
C |
5: 77,416,119 (GRCm39) |
L111P |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,059,216 (GRCm39) |
S13P |
probably damaging |
Het |
| Rogdi |
T |
A |
16: 4,831,175 (GRCm39) |
I31F |
probably benign |
Het |
| Serpinb9e |
T |
A |
13: 33,439,112 (GRCm39) |
D179E |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,529,807 (GRCm39) |
C409R |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,945,613 (GRCm39) |
T38A |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 100,003,107 (GRCm39) |
Q1897* |
probably null |
Het |
| St7 |
C |
A |
6: 17,694,221 (GRCm39) |
A4E |
possibly damaging |
Het |
| Tbcel |
T |
A |
9: 42,350,499 (GRCm39) |
I263F |
possibly damaging |
Het |
| Tmtc3 |
A |
G |
10: 100,312,534 (GRCm39) |
V103A |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,936,403 (GRCm39) |
P178S |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,580,426 (GRCm39) |
D558G |
|
Het |
| Zfp541 |
A |
G |
7: 15,810,344 (GRCm39) |
K127R |
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 |
|
|
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 |
|
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'- ACACCTGGTCCCAATTTATCTG -3'
(R):5'- ATCCCTTTAAAGCCTGAATACCTTC -3'
Sequencing Primer
(F):5'- GTTGTCTTCAGATGCACCAGAAG -3'
(R):5'- GAATACCTTCCTGCTTCTTTAAGAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation