Incidental Mutation 'R4291:Lmf1'
| ID |
323090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmf1
|
| Ensembl Gene |
ENSMUSG00000002279 |
| Gene Name |
lipase maturation factor 1 |
| Synonyms |
Tmem112, 2400010G15Rik |
| MMRRC Submission |
041081-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4291 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25798059-25881800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25873455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 320
(L320P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063344]
[ENSMUST00000116641]
[ENSMUST00000137201]
|
| AlphaFold |
Q3U3R4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063344
AA Change: L320P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066682
Gene: ENSMUSG00000002279
AA Change: L320P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
transmembrane domain
|
97 |
119 |
N/A |
INTRINSIC |
|
transmembrane domain
|
129 |
151 |
N/A |
INTRINSIC |
|
Pfam:LMF1
|
169 |
551 |
2.3e-142 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116641
AA Change: L320P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112340
Gene: ENSMUSG00000002279
AA Change: L320P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
transmembrane domain
|
97 |
119 |
N/A |
INTRINSIC |
|
transmembrane domain
|
129 |
151 |
N/A |
INTRINSIC |
|
Pfam:LMF1
|
169 |
553 |
1.2e-148 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137201
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141606
|
| SMART Domains |
Protein: ENSMUSP00000129263
Gene: ENSMUSG00000002279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMF1
|
2 |
90 |
9.8e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154842
|
| SMART Domains |
Protein: ENSMUSP00000119563
Gene: ENSMUSG00000002279
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
transmembrane domain
|
94 |
116 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Pfam:LMF1
|
166 |
298 |
2.4e-60 |
PFAM |
|
| Meta Mutation Damage Score |
0.6717 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,120,337 (GRCm39) |
F27S |
probably benign |
Het |
| AK157302 |
T |
A |
13: 21,679,715 (GRCm39) |
D80E |
probably damaging |
Het |
| Amz2 |
T |
C |
11: 109,324,881 (GRCm39) |
|
probably null |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Ankrd34c |
T |
A |
9: 89,611,817 (GRCm39) |
K175* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,042,949 (GRCm39) |
V997M |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cd96 |
T |
A |
16: 45,892,112 (GRCm39) |
Q292L |
probably damaging |
Het |
| Cdh18 |
C |
A |
15: 22,714,637 (GRCm39) |
|
probably benign |
Het |
| Cfb |
T |
G |
17: 35,080,114 (GRCm39) |
D122A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,919,964 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
T |
A |
6: 76,859,728 (GRCm39) |
K854N |
probably damaging |
Het |
| Cwh43 |
G |
A |
5: 73,569,275 (GRCm39) |
V106M |
probably benign |
Het |
| Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,967,533 (GRCm39) |
S2582P |
probably benign |
Het |
| Eef2 |
A |
G |
10: 81,015,414 (GRCm39) |
T312A |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,063,966 (GRCm39) |
R934* |
probably null |
Het |
| Fam240b |
A |
T |
13: 64,629,627 (GRCm39) |
M63K |
possibly damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
| Gsn |
G |
A |
2: 35,180,432 (GRCm39) |
V147I |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hectd3 |
A |
G |
4: 116,852,889 (GRCm39) |
E97G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,392,599 (GRCm39) |
P802S |
possibly damaging |
Het |
| Lca5l |
C |
T |
16: 95,979,974 (GRCm39) |
S52N |
probably damaging |
Het |
| Map3k4 |
G |
T |
17: 12,474,147 (GRCm39) |
Q845K |
probably benign |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
| Mcm9 |
C |
A |
10: 53,423,668 (GRCm39) |
M677I |
probably benign |
Het |
| Mkrn2 |
A |
G |
6: 115,594,395 (GRCm39) |
T369A |
possibly damaging |
Het |
| Mthfr |
C |
A |
4: 148,139,949 (GRCm39) |
N623K |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,071,985 (GRCm39) |
V571A |
probably benign |
Het |
| Nom1 |
G |
A |
5: 29,651,370 (GRCm39) |
|
probably null |
Het |
| Nucb1 |
T |
A |
7: 45,144,704 (GRCm39) |
D283V |
probably damaging |
Het |
| Or12e8 |
G |
A |
2: 87,188,419 (GRCm39) |
M210I |
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Pcdhb1 |
A |
C |
18: 37,398,470 (GRCm39) |
L140F |
probably damaging |
Het |
| Ptgs2 |
G |
A |
1: 149,976,002 (GRCm39) |
A10T |
probably benign |
Het |
| Rfx3 |
C |
T |
19: 27,777,632 (GRCm39) |
R497Q |
probably damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,410,702 (GRCm39) |
|
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,350,181 (GRCm39) |
T961A |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,163,474 (GRCm39) |
L694P |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,214 (GRCm39) |
Q67* |
probably null |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,619,285 (GRCm39) |
Y1321F |
probably damaging |
Het |
| Wfdc1 |
C |
A |
8: 120,406,194 (GRCm39) |
P103Q |
probably damaging |
Het |
| Zfp488 |
C |
A |
14: 33,692,851 (GRCm39) |
C104F |
possibly damaging |
Het |
|
| Other mutations in Lmf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03153:Lmf1
|
APN |
17 |
25,804,624 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0117:Lmf1
|
UTSW |
17 |
25,874,965 (GRCm39) |
unclassified |
probably benign |
|
|
R1757:Lmf1
|
UTSW |
17 |
25,874,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Lmf1
|
UTSW |
17 |
25,831,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2389:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2446:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3798:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3953:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3955:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3956:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Lmf1
|
UTSW |
17 |
25,873,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4293:Lmf1
|
UTSW |
17 |
25,873,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4636:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4698:Lmf1
|
UTSW |
17 |
25,798,324 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4791:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4968:Lmf1
|
UTSW |
17 |
25,804,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Lmf1
|
UTSW |
17 |
25,807,650 (GRCm39) |
nonsense |
probably null |
|
|
R5047:Lmf1
|
UTSW |
17 |
25,850,812 (GRCm39) |
intron |
probably benign |
|
|
R5152:Lmf1
|
UTSW |
17 |
25,874,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5419:Lmf1
|
UTSW |
17 |
25,881,610 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6162:Lmf1
|
UTSW |
17 |
25,831,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6693:Lmf1
|
UTSW |
17 |
25,864,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7583:Lmf1
|
UTSW |
17 |
25,874,423 (GRCm39) |
missense |
|
|
|
R7642:Lmf1
|
UTSW |
17 |
25,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Lmf1
|
UTSW |
17 |
25,873,582 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7671:Lmf1
|
UTSW |
17 |
25,798,323 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7818:Lmf1
|
UTSW |
17 |
25,881,565 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8851:Lmf1
|
UTSW |
17 |
25,804,680 (GRCm39) |
nonsense |
probably null |
|
|
R9181:Lmf1
|
UTSW |
17 |
25,804,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9524:Lmf1
|
UTSW |
17 |
25,881,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTGGGACCAGAACTGAG -3'
(R):5'- TTCATGAGGCTTAGGCAGGAGG -3'
Sequencing Primer
(F):5'- CTTGGGACCAGAACTGAGAGAATG -3'
(R):5'- GCTTAGGCAGGAGGGTCATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation