Incidental Mutation 'BB003:Lmf2'
ID |
642236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmf2
|
Ensembl Gene |
ENSMUSG00000022614 |
Gene Name |
lipase maturation factor 2 |
Synonyms |
Tmem112b, Tmem153 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
BB003
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89235207-89239862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89236624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 514
(P514L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023283]
[ENSMUST00000036987]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000145259]
[ENSMUST00000229111]
|
AlphaFold |
Q8C3X8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023283
AA Change: P514L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023283 Gene: ENSMUSG00000022614 AA Change: P514L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
Pfam:LMF1
|
122 |
589 |
5.6e-164 |
PFAM |
low complexity region
|
679 |
693 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036987
|
SMART Domains |
Protein: ENSMUSP00000036900 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
20 |
576 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074552
|
SMART Domains |
Protein: ENSMUSP00000074139 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
51 |
607 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088717
|
SMART Domains |
Protein: ENSMUSP00000086095 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:CNDH2_N
|
11 |
123 |
1.2e-48 |
PFAM |
Pfam:CNDH2_M
|
147 |
285 |
2.1e-20 |
PFAM |
Pfam:CNDH2_C
|
308 |
598 |
1.9e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145259
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229111
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
BC016579 |
C |
A |
16: 45,449,825 (GRCm39) |
D198Y |
probably damaging |
Het |
Cep170 |
A |
G |
1: 176,588,979 (GRCm39) |
S549P |
probably damaging |
Het |
Cnih3 |
T |
C |
1: 181,277,566 (GRCm39) |
L96P |
probably damaging |
Het |
Cnn2 |
T |
A |
10: 79,829,160 (GRCm39) |
L168Q |
probably damaging |
Het |
Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
Cnot10 |
A |
G |
9: 114,446,883 (GRCm39) |
C398R |
probably damaging |
Het |
Dcaf4 |
C |
A |
12: 83,580,703 (GRCm39) |
Y212* |
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,335,326 (GRCm39) |
T665A |
probably benign |
Het |
Dnmt1 |
C |
A |
9: 20,818,855 (GRCm39) |
A1609S |
unknown |
Het |
Dzip1 |
T |
C |
14: 119,120,911 (GRCm39) |
D682G |
probably benign |
Het |
Fam76a |
A |
G |
4: 132,629,405 (GRCm39) |
L249P |
probably damaging |
Het |
Fgf10 |
T |
C |
13: 118,925,752 (GRCm39) |
M177T |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
Itln1 |
G |
A |
1: 171,359,261 (GRCm39) |
T73I |
probably benign |
Het |
Jkamp |
T |
C |
12: 72,141,590 (GRCm39) |
Y197H |
probably damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lcor |
T |
C |
19: 41,571,008 (GRCm39) |
F67S |
probably benign |
Het |
Lmntd2 |
G |
T |
7: 140,790,258 (GRCm39) |
P610Q |
probably damaging |
Het |
Map3k3 |
T |
C |
11: 106,036,548 (GRCm39) |
S225P |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,146,335 (GRCm39) |
Y182H |
probably damaging |
Het |
Mki67 |
A |
G |
7: 135,298,869 (GRCm39) |
V2055A |
possibly damaging |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Myh8 |
C |
T |
11: 67,169,732 (GRCm39) |
P17L |
possibly damaging |
Het |
Myt1l |
T |
A |
12: 29,861,651 (GRCm39) |
D144E |
unknown |
Het |
Nfatc1 |
T |
C |
18: 80,740,881 (GRCm39) |
Y373C |
probably damaging |
Het |
Pacs2 |
C |
T |
12: 113,024,372 (GRCm39) |
L418F |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,996,207 (GRCm39) |
I24T |
unknown |
Het |
Pdcl |
C |
T |
2: 37,242,249 (GRCm39) |
G167E |
probably damaging |
Het |
Pdcl |
A |
C |
2: 37,242,251 (GRCm39) |
S166R |
probably damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Qsox1 |
C |
T |
1: 155,688,533 (GRCm39) |
G5S |
unknown |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Sass6 |
T |
A |
3: 116,422,419 (GRCm39) |
S641T |
possibly damaging |
Het |
Six1 |
T |
C |
12: 73,090,583 (GRCm39) |
N194S |
probably benign |
Het |
Tagap |
T |
C |
17: 8,145,770 (GRCm39) |
|
probably null |
Het |
Tiparp |
T |
C |
3: 65,460,946 (GRCm39) |
V645A |
possibly damaging |
Het |
Tm2d2 |
T |
C |
8: 25,510,480 (GRCm39) |
V113A |
probably damaging |
Het |
Tmprss6 |
C |
A |
15: 78,337,050 (GRCm39) |
R352L |
probably benign |
Het |
Tslp |
A |
G |
18: 32,950,246 (GRCm39) |
E105G |
possibly damaging |
Het |
Ttc41 |
A |
G |
10: 86,611,911 (GRCm39) |
E1093G |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,797 (GRCm39) |
R2686H |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,627,036 (GRCm39) |
Y541N |
probably damaging |
Het |
|
Other mutations in Lmf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00896:Lmf2
|
APN |
15 |
89,237,539 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00953:Lmf2
|
APN |
15 |
89,238,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00987:Lmf2
|
APN |
15 |
89,238,771 (GRCm39) |
missense |
probably benign |
|
IGL01069:Lmf2
|
APN |
15 |
89,237,091 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01340:Lmf2
|
APN |
15 |
89,237,075 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01878:Lmf2
|
APN |
15 |
89,236,621 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02588:Lmf2
|
APN |
15 |
89,239,609 (GRCm39) |
splice site |
probably null |
|
IGL02698:Lmf2
|
APN |
15 |
89,238,357 (GRCm39) |
missense |
probably damaging |
1.00 |
BB013:Lmf2
|
UTSW |
15 |
89,236,624 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4651001:Lmf2
|
UTSW |
15 |
89,236,272 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1761:Lmf2
|
UTSW |
15 |
89,236,916 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2355:Lmf2
|
UTSW |
15 |
89,235,966 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2880:Lmf2
|
UTSW |
15 |
89,235,856 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4896:Lmf2
|
UTSW |
15 |
89,236,003 (GRCm39) |
missense |
probably benign |
0.16 |
R5141:Lmf2
|
UTSW |
15 |
89,235,810 (GRCm39) |
splice site |
probably null |
|
R6785:Lmf2
|
UTSW |
15 |
89,236,236 (GRCm39) |
missense |
probably benign |
0.43 |
R7301:Lmf2
|
UTSW |
15 |
89,239,733 (GRCm39) |
start gained |
probably benign |
|
R7926:Lmf2
|
UTSW |
15 |
89,236,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R8110:Lmf2
|
UTSW |
15 |
89,236,561 (GRCm39) |
critical splice donor site |
probably null |
|
R8274:Lmf2
|
UTSW |
15 |
89,236,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R8472:Lmf2
|
UTSW |
15 |
89,239,005 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9127:Lmf2
|
UTSW |
15 |
89,239,771 (GRCm39) |
start gained |
probably benign |
|
R9332:Lmf2
|
UTSW |
15 |
89,239,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R9333:Lmf2
|
UTSW |
15 |
89,239,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R9334:Lmf2
|
UTSW |
15 |
89,239,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R9710:Lmf2
|
UTSW |
15 |
89,237,419 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- AACATGGCTCTGGACTAGTCG -3'
(R):5'- TCCTAGAGGGCAGCTATGAC -3'
Sequencing Primer
(F):5'- CTCTGGACTAGTCGGATCACTG -3'
(R):5'- CAGCTATGACGGACAGCATTG -3'
|
Posted On |
2020-08-01 |