Incidental Mutation 'R5719:Bltp2'
| ID |
451366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bltp2
|
| Ensembl Gene |
ENSMUSG00000010277 |
| Gene Name |
bridge-like lipid transfer protein family member 2 |
| Synonyms |
2610507B11Rik |
| MMRRC Submission |
043339-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R5719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78152578-78181449 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78164071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1137
(H1137Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010421]
|
| AlphaFold |
Q5SYL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010421
AA Change: H1137Q
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: H1137Q
| 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 |
unknown
Transcript: ENSMUST00000145145
AA Change: H31Q
|
| SMART Domains |
Protein: ENSMUSP00000119105
Gene: ENSMUSG00000010277
AA Change: H31Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fmp27_GFWDK
|
1 |
52 |
1.2e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.9318 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130051J06Rik |
C |
T |
15: 95,688,641 (GRCm39) |
|
probably benign |
Het |
| A630001G21Rik |
T |
A |
1: 85,651,106 (GRCm39) |
R110W |
probably benign |
Het |
| Abca4 |
T |
C |
3: 121,928,915 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,241,894 (GRCm39) |
N1379S |
probably damaging |
Het |
| Actrt3 |
A |
C |
3: 30,652,276 (GRCm39) |
F273V |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,417,217 (GRCm39) |
D75G |
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,805 (GRCm39) |
D2392E |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,965,933 (GRCm39) |
I2445T |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,401,851 (GRCm39) |
I762V |
probably benign |
Het |
| Ccdc127 |
T |
A |
13: 74,505,187 (GRCm39) |
|
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Cdk13 |
A |
G |
13: 17,894,240 (GRCm39) |
I1129T |
probably damaging |
Het |
| Cnot1 |
C |
T |
8: 96,470,924 (GRCm39) |
R1308H |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,080,207 (GRCm39) |
H144R |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,823,891 (GRCm39) |
N993S |
possibly damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,507,761 (GRCm39) |
V1182D |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fam234a |
T |
A |
17: 26,433,627 (GRCm39) |
Q399L |
possibly damaging |
Het |
| Fyb1 |
A |
T |
15: 6,610,350 (GRCm39) |
K308* |
probably null |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm10309 |
A |
T |
17: 86,806,421 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm5501 |
G |
A |
18: 9,917,417 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6309 |
A |
T |
5: 146,104,992 (GRCm39) |
V307D |
probably benign |
Het |
| Gm9871 |
T |
A |
6: 101,773,148 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,871,528 (GRCm39) |
V70E |
possibly damaging |
Het |
| Hes7 |
A |
G |
11: 69,012,415 (GRCm39) |
E41G |
probably damaging |
Het |
| Ifi27l2b |
T |
C |
12: 103,422,046 (GRCm39) |
D106G |
unknown |
Het |
| Igfbp6 |
A |
T |
15: 102,056,616 (GRCm39) |
Y184F |
probably damaging |
Het |
| Isyna1 |
A |
G |
8: 71,047,352 (GRCm39) |
Y25C |
probably damaging |
Het |
| Kcng3 |
G |
T |
17: 83,938,563 (GRCm39) |
T162K |
possibly damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,987 (GRCm39) |
D195G |
possibly damaging |
Het |
| Lrwd1 |
A |
T |
5: 136,161,093 (GRCm39) |
|
probably null |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,059,213 (GRCm39) |
E480D |
probably damaging |
Het |
| Myrf |
T |
A |
19: 10,194,087 (GRCm39) |
D690V |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,578,312 (GRCm39) |
I684M |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,781,589 (GRCm39) |
A607T |
probably damaging |
Het |
| Nuak1 |
A |
T |
10: 84,245,584 (GRCm39) |
I87N |
probably damaging |
Het |
| Odad2 |
G |
T |
18: 7,211,496 (GRCm39) |
Q793K |
probably benign |
Het |
| Or5p66 |
T |
G |
7: 107,885,599 (GRCm39) |
T245P |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,475 (GRCm39) |
|
probably null |
Het |
| Or8b4 |
A |
T |
9: 37,830,647 (GRCm39) |
E236D |
probably damaging |
Het |
| Osbpl9 |
T |
A |
4: 108,919,763 (GRCm39) |
R689* |
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,591,598 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,972,839 (GRCm39) |
|
probably null |
Het |
| Rft1 |
T |
C |
14: 30,385,183 (GRCm39) |
|
probably benign |
Het |
| Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,350,879 (GRCm39) |
Y167C |
probably damaging |
Het |
| Schip1 |
T |
C |
3: 68,315,560 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
C |
9: 119,359,118 (GRCm39) |
L643R |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,090,877 (GRCm39) |
M1128K |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,252,257 (GRCm39) |
L18P |
probably benign |
Het |
| Slc22a3 |
C |
T |
17: 12,642,691 (GRCm39) |
V509M |
probably damaging |
Het |
| Slc7a5 |
A |
C |
8: 122,610,381 (GRCm39) |
F478V |
probably benign |
Het |
| Smc1b |
T |
A |
15: 84,980,859 (GRCm39) |
N803I |
probably benign |
Het |
| Snf8 |
T |
A |
11: 95,932,551 (GRCm39) |
N115K |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,258,429 (GRCm39) |
F41I |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,506,793 (GRCm39) |
S90G |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,703,700 (GRCm39) |
V285A |
probably damaging |
Het |
| Tsen15 |
T |
C |
1: 152,247,534 (GRCm39) |
T153A |
probably damaging |
Het |
| Usp34 |
T |
G |
11: 23,304,846 (GRCm39) |
S360A |
probably benign |
Het |
| Wdr24 |
T |
C |
17: 26,047,314 (GRCm39) |
|
probably null |
Het |
| Zbtb2 |
G |
A |
10: 4,319,456 (GRCm39) |
T190I |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,891,613 (GRCm39) |
S788G |
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 |
|
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'- AGTAAGCCTGCATTCCTCTACC -3'
(R):5'- ACTCCCAGTGCATGTTCTCAG -3'
Sequencing Primer
(F):5'- TCCTCTACCCTAGCGGAAATC -3'
(R):5'- CTCAGTTGTATTATAGGGGTCCTAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation