Incidental Mutation 'R7044:Mfge8'
| ID |
547210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfge8
|
| Ensembl Gene |
ENSMUSG00000030605 |
| Gene Name |
milk fat globule-EGF factor 8 protein |
| Synonyms |
MFG-E8, Mfgm, EGF/factor VIII, lactadherin, SED1 |
| MMRRC Submission |
045143-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.289)
|
| Stock # |
R7044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79133768-79149060 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79142520 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 219
(V219A)
|
| 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: V219A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032825
Gene: ENSMUSG00000030605
AA Change: V219A
| 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
AA Change: V182A
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103032
Gene: ENSMUSG00000030605
AA Change: V182A
| 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 |
probably benign
Transcript: ENSMUST00000205563
|
| Meta Mutation Damage Score |
0.7592 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010300C02Rik |
C |
T |
1: 37,612,280 (GRCm38) |
D1169N |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,815,260 (GRCm38) |
Q448L |
possibly damaging |
Het |
| Appl1 |
A |
G |
14: 26,928,677 (GRCm38) |
S513P |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,733,321 (GRCm38) |
K1066* |
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,577,601 (GRCm38) |
I824T |
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 133,015,102 (GRCm38) |
R35G |
possibly damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,470,494 (GRCm38) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,231,410 (GRCm38) |
|
probably null |
Het |
| Fam105a |
A |
G |
15: 27,657,235 (GRCm38) |
|
probably benign |
Het |
| Fam207a |
T |
C |
10: 77,514,392 (GRCm38) |
D35G |
possibly damaging |
Het |
| Fat4 |
G |
C |
3: 39,010,810 (GRCm38) |
A4972P |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,010,811 (GRCm38) |
A4972V |
probably benign |
Het |
| Fbxl8 |
T |
A |
8: 105,267,015 (GRCm38) |
M1K |
probably null |
Het |
| Glyat |
T |
C |
19: 12,650,265 (GRCm38) |
S75P |
probably benign |
Het |
| Gm3543 |
T |
A |
14: 41,980,066 (GRCm38) |
I154F |
probably damaging |
Het |
| Gm4565 |
T |
A |
7: 22,583,370 (GRCm38) |
M8L |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,349,790 (GRCm38) |
Q269R |
probably benign |
Het |
| Hfe2 |
C |
A |
3: 96,527,474 (GRCm38) |
H176Q |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,538,901 (GRCm38) |
H483R |
possibly damaging |
Het |
| Il25 |
G |
A |
14: 54,933,158 (GRCm38) |
A63T |
probably benign |
Het |
| Krt27 |
T |
A |
11: 99,346,814 (GRCm38) |
N366I |
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,249,946 (GRCm38) |
V373A |
probably damaging |
Het |
| Olfr1186 |
A |
G |
2: 88,526,486 (GRCm38) |
N301S |
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,469,171 (GRCm38) |
I231T |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,581,567 (GRCm38) |
W151R |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,246,854 (GRCm38) |
I1084T |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,449,895 (GRCm38) |
C27R |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,044,346 (GRCm38) |
V1266M |
probably damaging |
Het |
| Rpa1 |
T |
C |
11: 75,312,802 (GRCm38) |
D358G |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,369,953 (GRCm38) |
S495P |
probably damaging |
Het |
| Surf6 |
A |
G |
2: 26,899,356 (GRCm38) |
I123T |
probably damaging |
Het |
| Sybu |
A |
T |
15: 44,677,695 (GRCm38) |
S324T |
possibly damaging |
Het |
| Trim3 |
A |
T |
7: 105,618,214 (GRCm38) |
S319R |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,590,934 (GRCm38) |
F72L |
probably benign |
Het |
| Tsks |
C |
T |
7: 44,943,792 (GRCm38) |
R61W |
probably damaging |
Het |
| Ube2k |
T |
C |
5: 65,581,429 (GRCm38) |
V36A |
possibly damaging |
Het |
| Ube3a |
T |
C |
7: 59,288,413 (GRCm38) |
V688A |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,157,045 (GRCm38) |
K79E |
possibly damaging |
Het |
| Vmn1r77 |
G |
A |
7: 12,041,834 (GRCm38) |
R179Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 18,914,367 (GRCm38) |
F16I |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,802,167 (GRCm38) |
|
probably benign |
Het |
| Zfp600 |
C |
T |
4: 146,195,322 (GRCm38) |
Q187* |
probably null |
Het |
|
| Other mutations in Mfge8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Mfge8
|
APN |
7 |
79,136,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01751:Mfge8
|
APN |
7 |
79,136,655 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02023:Mfge8
|
APN |
7 |
79,145,237 (GRCm38) |
intron |
probably benign |
|
|
IGL02112:Mfge8
|
APN |
7 |
79,143,340 (GRCm38) |
missense |
probably benign |
|
|
IGL02669:Mfge8
|
APN |
7 |
79,145,681 (GRCm38) |
missense |
probably benign |
0.36 |
|
IGL02978:Mfge8
|
APN |
7 |
79,141,728 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02978:Mfge8
|
APN |
7 |
79,141,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1587:Mfge8
|
UTSW |
7 |
79,134,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1657:Mfge8
|
UTSW |
7 |
79,141,773 (GRCm38) |
missense |
probably benign |
|
|
R1716:Mfge8
|
UTSW |
7 |
79,142,443 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4766:Mfge8
|
UTSW |
7 |
79,134,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5100:Mfge8
|
UTSW |
7 |
79,143,300 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6932:Mfge8
|
UTSW |
7 |
79,143,301 (GRCm38) |
missense |
probably benign |
|
|
R7824:Mfge8
|
UTSW |
7 |
79,145,387 (GRCm38) |
splice site |
probably null |
|
|
R8932:Mfge8
|
UTSW |
7 |
79,136,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Mfge8
|
UTSW |
7 |
79,145,737 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGGAGATTCACCCCAAC -3'
(R):5'- AACTTGGGCTTTTCAGAGCG -3'
Sequencing Primer
(F):5'- TGCTTCTCAATCAGTGCTAGAC -3'
(R):5'- GCGTAGGCTCCAGAACCTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation