Incidental Mutation 'R5100:Mfge8'
| ID |
388217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfge8
|
| Ensembl Gene |
ENSMUSG00000030605 |
| Gene Name |
milk fat globule EGF and factor V/VIII domain containing |
| Synonyms |
Mfgm, SED1, lactadherin, MFG-E8, EGF/factor VIII |
| MMRRC Submission |
042689-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.292)
|
| Stock # |
R5100 (G1)
|
| Quality Score |
167 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
78783516-78798808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78793048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 139
(D139E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032825]
[ENSMUST00000107409]
[ENSMUST00000205563]
|
| AlphaFold |
P21956 |
| PDB Structure |
NMR Structure of the Mouse MFG-E8 C2 Domain [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032825
AA Change: D139E
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032825
Gene: ENSMUSG00000030605
AA Change: D139E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
EGF
|
27 |
61 |
2.43e-4 |
SMART |
|
EGF
|
67 |
108 |
1.41e-5 |
SMART |
|
low complexity region
|
123 |
138 |
N/A |
INTRINSIC |
|
FA58C
|
147 |
303 |
1.94e-43 |
SMART |
|
FA58C
|
307 |
463 |
1.24e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107409
|
| SMART Domains |
Protein: ENSMUSP00000103032
Gene: ENSMUSG00000030605
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
EGF
|
27 |
61 |
2.43e-4 |
SMART |
|
EGF
|
67 |
108 |
1.41e-5 |
SMART |
|
FA58C
|
110 |
266 |
3.68e-44 |
SMART |
|
FA58C
|
270 |
426 |
1.24e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205929
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206338
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice. Splenomegaly occurs with age and defects occur in phagocytosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,057,477 (GRCm39) |
M774K |
probably damaging |
Het |
| Adamts3 |
G |
A |
5: 89,856,502 (GRCm39) |
T357I |
probably damaging |
Het |
| Ap3m2 |
T |
A |
8: 23,279,404 (GRCm39) |
M408L |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,833,149 (GRCm39) |
N1116K |
probably benign |
Het |
| Arhgap31 |
A |
T |
16: 38,421,821 (GRCm39) |
I1415N |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,530,963 (GRCm39) |
D1374E |
possibly damaging |
Het |
| Asxl1 |
C |
G |
2: 153,239,851 (GRCm39) |
N546K |
probably damaging |
Het |
| Cobll1 |
T |
A |
2: 64,956,245 (GRCm39) |
T337S |
probably benign |
Het |
| Depdc1a |
A |
T |
3: 159,221,157 (GRCm39) |
I163L |
probably benign |
Het |
| Flrt3 |
T |
A |
2: 140,513,304 (GRCm39) |
|
probably null |
Het |
| Foxn4 |
A |
T |
5: 114,394,820 (GRCm39) |
L369H |
possibly damaging |
Het |
| Gm11992 |
T |
C |
11: 9,011,290 (GRCm39) |
S244P |
probably damaging |
Het |
| Gm14412 |
C |
T |
2: 177,006,908 (GRCm39) |
C329Y |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm5113 |
G |
A |
7: 29,878,076 (GRCm39) |
V55M |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,269,986 (GRCm39) |
I599T |
probably benign |
Het |
| H2-Q6 |
G |
C |
17: 35,644,296 (GRCm39) |
E93Q |
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,156,843 (GRCm39) |
T570A |
probably damaging |
Het |
| Hspb8 |
T |
C |
5: 116,553,468 (GRCm39) |
I143M |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,821,059 (GRCm39) |
T655A |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Lrit1 |
T |
A |
14: 36,784,171 (GRCm39) |
C500S |
possibly damaging |
Het |
| Macf1 |
A |
C |
4: 123,368,261 (GRCm39) |
C602G |
probably benign |
Het |
| Mesd |
C |
T |
7: 83,546,977 (GRCm39) |
R147C |
probably damaging |
Het |
| Ncoa3 |
G |
A |
2: 165,892,017 (GRCm39) |
R131Q |
probably damaging |
Het |
| Ncoa5 |
A |
G |
2: 164,851,309 (GRCm39) |
I188T |
probably damaging |
Het |
| Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,897 (GRCm39) |
H120R |
probably benign |
Het |
| Otos |
T |
A |
1: 92,572,107 (GRCm39) |
H73L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,492,499 (GRCm39) |
|
probably null |
Het |
| Phc3 |
T |
C |
3: 30,976,348 (GRCm39) |
E740G |
possibly damaging |
Het |
| Pla2g7 |
T |
C |
17: 43,922,267 (GRCm39) |
L382P |
probably damaging |
Het |
| Plcd3 |
C |
A |
11: 102,969,175 (GRCm39) |
R264L |
probably benign |
Het |
| Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,814,567 (GRCm39) |
I823F |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,364,463 (GRCm39) |
R828G |
probably damaging |
Het |
| Spred2 |
T |
A |
11: 19,971,291 (GRCm39) |
C386* |
probably null |
Het |
| Terb1 |
A |
T |
8: 105,221,805 (GRCm39) |
L165* |
probably null |
Het |
| Tgm2 |
A |
T |
2: 157,969,084 (GRCm39) |
S430R |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,929,902 (GRCm39) |
I2879F |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,896,130 (GRCm39) |
V977G |
probably damaging |
Het |
| Wnt5b |
A |
C |
6: 119,417,449 (GRCm39) |
S139A |
probably benign |
Het |
| Zfp820 |
C |
A |
17: 22,040,054 (GRCm39) |
V52L |
possibly damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,326,832 (GRCm39) |
R764* |
probably null |
Het |
|
| Other mutations in Mfge8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Mfge8
|
APN |
7 |
78,786,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01751:Mfge8
|
APN |
7 |
78,786,403 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02023:Mfge8
|
APN |
7 |
78,794,985 (GRCm39) |
intron |
probably benign |
|
|
IGL02112:Mfge8
|
APN |
7 |
78,793,088 (GRCm39) |
missense |
probably benign |
|
|
IGL02669:Mfge8
|
APN |
7 |
78,795,429 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02978:Mfge8
|
APN |
7 |
78,791,476 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02978:Mfge8
|
APN |
7 |
78,791,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Mfge8
|
UTSW |
7 |
78,784,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1657:Mfge8
|
UTSW |
7 |
78,791,521 (GRCm39) |
missense |
probably benign |
|
|
R1716:Mfge8
|
UTSW |
7 |
78,792,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Mfge8
|
UTSW |
7 |
78,784,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Mfge8
|
UTSW |
7 |
78,793,049 (GRCm39) |
missense |
probably benign |
|
|
R7044:Mfge8
|
UTSW |
7 |
78,792,268 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7824:Mfge8
|
UTSW |
7 |
78,795,135 (GRCm39) |
splice site |
probably null |
|
|
R8932:Mfge8
|
UTSW |
7 |
78,786,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mfge8
|
UTSW |
7 |
78,795,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAACGTGGCCTCTGATGAG -3'
(R):5'- GACGAAAAGCCTGCTTTGTGTG -3'
Sequencing Primer
(F):5'- CTCTGATGAGGACCTAGAGACAG -3'
(R):5'- GTACTGTCCAAGGCCACTCTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation