Incidental Mutation 'R2355:Lmf2'
ID |
246897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmf2
|
Ensembl Gene |
ENSMUSG00000022614 |
Gene Name |
lipase maturation factor 2 |
Synonyms |
Tmem112b, Tmem153 |
MMRRC Submission |
040337-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R2355 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89235207-89239862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89235966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 646
(V646E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023283]
[ENSMUST00000036987]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000145259]
[ENSMUST00000229111]
|
AlphaFold |
Q8C3X8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023283
AA Change: V646E
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000023283 Gene: ENSMUSG00000022614 AA Change: V646E
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 |
noncoding transcript
Transcript: ENSMUST00000123889
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141643
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229436
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230112
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231067
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
Ahcyl1 |
A |
G |
3: 107,577,533 (GRCm39) |
S296P |
probably damaging |
Het |
Alas1 |
A |
G |
9: 106,113,673 (GRCm39) |
V524A |
probably damaging |
Het |
Amn |
C |
A |
12: 111,238,246 (GRCm39) |
D53E |
probably damaging |
Het |
Bbof1 |
A |
G |
12: 84,470,223 (GRCm39) |
E33G |
probably damaging |
Het |
Ccdc149 |
T |
C |
5: 52,578,114 (GRCm39) |
E106G |
probably damaging |
Het |
Ceacam5 |
T |
A |
7: 17,479,560 (GRCm39) |
S226T |
probably damaging |
Het |
Chd7 |
G |
T |
4: 8,801,350 (GRCm39) |
S698I |
possibly damaging |
Het |
Chst2 |
A |
G |
9: 95,288,148 (GRCm39) |
L66P |
probably damaging |
Het |
Cps1 |
C |
T |
1: 67,195,383 (GRCm39) |
P268L |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cyp3a59 |
A |
T |
5: 146,036,622 (GRCm39) |
M275L |
probably benign |
Het |
Ddx41 |
T |
G |
13: 55,682,113 (GRCm39) |
M232L |
probably benign |
Het |
Dnah6 |
C |
A |
6: 73,133,404 (GRCm39) |
A1068S |
possibly damaging |
Het |
Dnah7a |
T |
C |
1: 53,621,661 (GRCm39) |
I1155V |
probably benign |
Het |
Dop1b |
G |
A |
16: 93,567,565 (GRCm39) |
V611I |
probably damaging |
Het |
Epyc |
A |
G |
10: 97,512,875 (GRCm39) |
Y243C |
probably damaging |
Het |
Fam171a1 |
C |
T |
2: 3,226,570 (GRCm39) |
Q568* |
probably null |
Het |
Gm5930 |
A |
G |
14: 44,573,918 (GRCm39) |
S105P |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,389,810 (GRCm39) |
D2032G |
probably benign |
Het |
Gps2 |
AGTGCT |
A |
11: 69,806,207 (GRCm39) |
|
probably null |
Het |
H2-DMb1 |
A |
G |
17: 34,376,289 (GRCm39) |
Y136C |
probably damaging |
Het |
Il12b |
A |
G |
11: 44,301,039 (GRCm39) |
E185G |
probably benign |
Het |
Kat7 |
A |
C |
11: 95,182,407 (GRCm39) |
I231R |
probably benign |
Het |
Kcmf1 |
A |
T |
6: 72,827,466 (GRCm39) |
I58N |
probably damaging |
Het |
Lmo7 |
A |
G |
14: 102,126,121 (GRCm39) |
Q409R |
probably damaging |
Het |
Lmod1 |
T |
A |
1: 135,292,253 (GRCm39) |
H369Q |
probably benign |
Het |
M1ap |
G |
A |
6: 82,933,484 (GRCm39) |
A13T |
probably benign |
Het |
Mapk8ip2 |
G |
T |
15: 89,343,168 (GRCm39) |
V637L |
probably benign |
Het |
Mettl25 |
C |
A |
10: 105,599,316 (GRCm39) |
V570L |
probably benign |
Het |
Mfsd1 |
T |
A |
3: 67,508,668 (GRCm39) |
N449K |
probably damaging |
Het |
Or56a5 |
A |
T |
7: 104,793,020 (GRCm39) |
M166K |
probably benign |
Het |
Or5b24 |
T |
C |
19: 12,912,383 (GRCm39) |
S94P |
possibly damaging |
Het |
Or5d18 |
T |
A |
2: 87,865,379 (GRCm39) |
I35F |
probably damaging |
Het |
Or6c209 |
G |
A |
10: 129,483,711 (GRCm39) |
C238Y |
probably benign |
Het |
Pcdhb5 |
T |
A |
18: 37,455,169 (GRCm39) |
S516R |
probably benign |
Het |
Plppr3 |
C |
T |
10: 79,701,194 (GRCm39) |
M549I |
possibly damaging |
Het |
Ppl |
A |
G |
16: 4,912,361 (GRCm39) |
V740A |
probably benign |
Het |
Rabgef1 |
C |
T |
5: 130,240,928 (GRCm39) |
T349M |
probably benign |
Het |
Rad51ap2 |
T |
C |
12: 11,507,109 (GRCm39) |
C344R |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,611,455 (GRCm39) |
Q172R |
possibly damaging |
Het |
Smg9 |
G |
A |
7: 24,119,546 (GRCm39) |
|
probably null |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Trim42 |
A |
T |
9: 97,241,293 (GRCm39) |
N646K |
probably damaging |
Het |
Usp32 |
T |
C |
11: 84,896,735 (GRCm39) |
I1181V |
probably benign |
Het |
Vwa5b1 |
C |
A |
4: 138,319,221 (GRCm39) |
|
probably null |
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 |
BB003:Lmf2
|
UTSW |
15 |
89,236,624 (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 |
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'- AGCTGATGGTAGCACACGAC -3'
(R):5'- AAGGAGCCAGCTGAACTGTG -3'
Sequencing Primer
(F):5'- CTATTTTTTCCGCCGAGG -3'
(R):5'- CCAGCTGAACTGTGAGAGGTAGC -3'
|
Posted On |
2014-10-30 |