Incidental Mutation 'R3031:Mboat7'
| ID |
477555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mboat7
|
| Ensembl Gene |
ENSMUSG00000035596 |
| Gene Name |
membrane bound O-acyltransferase domain containing 7 |
| Synonyms |
Lpiat1, 5730589L02Rik, mBB1, Leng4 |
| MMRRC Submission |
040547-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.750)
|
| Stock # |
R3031 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3680788-3696188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3681687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 398
(V398A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038608]
[ENSMUST00000038743]
[ENSMUST00000121743]
[ENSMUST00000127106]
[ENSMUST00000128364]
|
| AlphaFold |
Q8CHK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038608
AA Change: V398A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596
AA Change: V398A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:MBOAT
|
57 |
420 |
2.4e-37 |
PFAM |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038743
|
| SMART Domains |
Protein: ENSMUSP00000043853
Gene: ENSMUSG00000019734
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
transmembrane domain
|
232 |
251 |
N/A |
INTRINSIC |
|
transmembrane domain
|
332 |
354 |
N/A |
INTRINSIC |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
Pfam:TMC
|
457 |
567 |
2.5e-42 |
PFAM |
|
transmembrane domain
|
572 |
594 |
N/A |
INTRINSIC |
|
transmembrane domain
|
637 |
659 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121743
|
| SMART Domains |
Protein: ENSMUSP00000112541
Gene: ENSMUSG00000019734
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
84 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
|
transmembrane domain
|
165 |
184 |
N/A |
INTRINSIC |
|
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
|
transmembrane domain
|
307 |
329 |
N/A |
INTRINSIC |
|
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
|
Pfam:TMC
|
390 |
500 |
1.4e-40 |
PFAM |
|
transmembrane domain
|
505 |
527 |
N/A |
INTRINSIC |
|
transmembrane domain
|
570 |
592 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127106
|
| SMART Domains |
Protein: ENSMUSP00000116446
Gene: ENSMUSG00000035596
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128364
|
| SMART Domains |
Protein: ENSMUSP00000120521
Gene: ENSMUSG00000035596
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148313
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit hydrocephaly and most die between 1-3 months of age. Mice homozygous for a knock-out allele exhibit partial lethality with decreased body size, decreased forebrain size, delayed neuronal migrationand reduced neurite outgrowth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,193,863 (GRCm39) |
V753L |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,702,151 (GRCm39) |
L1068P |
unknown |
Het |
| Cacna1h |
C |
A |
17: 25,652,108 (GRCm39) |
R12L |
probably damaging |
Het |
| Cbln4 |
A |
G |
2: 171,884,100 (GRCm39) |
V40A |
probably damaging |
Het |
| Ccdc170 |
T |
C |
10: 4,468,931 (GRCm39) |
S160P |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,054,487 (GRCm39) |
E46G |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,473,549 (GRCm39) |
D874V |
probably damaging |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,329,848 (GRCm39) |
R4861G |
possibly damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lipe |
T |
C |
7: 25,084,320 (GRCm39) |
E588G |
possibly damaging |
Het |
| Mael |
T |
C |
1: 166,032,375 (GRCm39) |
D328G |
probably damaging |
Het |
| Slc35e1 |
A |
G |
8: 73,238,735 (GRCm39) |
W258R |
probably benign |
Het |
| Slc9a8 |
A |
G |
2: 167,293,201 (GRCm39) |
D183G |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,753,345 (GRCm39) |
D214N |
possibly damaging |
Het |
| Traf3ip1 |
T |
C |
1: 91,447,822 (GRCm39) |
V433A |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,194,125 (GRCm39) |
D232E |
probably benign |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,831,052 (GRCm39) |
S1561P |
probably benign |
Het |
| Wdr48 |
T |
C |
9: 119,753,176 (GRCm39) |
V593A |
probably benign |
Het |
| Zfp58 |
A |
G |
13: 67,640,231 (GRCm39) |
F87L |
probably benign |
Het |
| Zfp663 |
A |
T |
2: 165,195,616 (GRCm39) |
L201* |
probably null |
Het |
|
| Other mutations in Mboat7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02234:Mboat7
|
APN |
7 |
3,694,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Mboat7
|
APN |
7 |
3,686,905 (GRCm39) |
splice site |
probably null |
|
|
R0013:Mboat7
|
UTSW |
7 |
3,686,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Mboat7
|
UTSW |
7 |
3,686,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Mboat7
|
UTSW |
7 |
3,686,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Mboat7
|
UTSW |
7 |
3,686,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:Mboat7
|
UTSW |
7 |
3,688,817 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2036:Mboat7
|
UTSW |
7 |
3,688,671 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2091:Mboat7
|
UTSW |
7 |
3,687,010 (GRCm39) |
unclassified |
probably benign |
|
|
R4200:Mboat7
|
UTSW |
7 |
3,688,752 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4382:Mboat7
|
UTSW |
7 |
3,691,545 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5407:Mboat7
|
UTSW |
7 |
3,694,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Mboat7
|
UTSW |
7 |
3,686,884 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6785:Mboat7
|
UTSW |
7 |
3,688,835 (GRCm39) |
missense |
probably benign |
0.42 |
|
RF013:Mboat7
|
UTSW |
7 |
3,694,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation