Incidental Mutation 'PIT4696001:Megf10'
| ID |
556818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Megf10
|
| Ensembl Gene |
ENSMUSG00000024593 |
| Gene Name |
multiple EGF-like-domains 10 |
| Synonyms |
LOC240312, 3000002B06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
PIT4696001 (G1)
|
| Quality Score |
223.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
57266162-57430539 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57410760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 690
(C690R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075770]
[ENSMUST00000139892]
|
| AlphaFold |
Q6DIB5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075770
AA Change: C690R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075174
Gene: ENSMUSG00000024593
AA Change: C690R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
EGF
|
108 |
136 |
9.41e-2 |
SMART |
|
EGF_Lam
|
152 |
191 |
3.57e-2 |
SMART |
|
EGF
|
190 |
222 |
5.79e-2 |
SMART |
|
EGF
|
233 |
265 |
1.78e-2 |
SMART |
|
EGF_Lam
|
281 |
320 |
7.58e-6 |
SMART |
|
EGF
|
319 |
351 |
7.13e-2 |
SMART |
|
EGF_Lam
|
368 |
409 |
9.05e-4 |
SMART |
|
EGF
|
408 |
440 |
8.78e-2 |
SMART |
|
EGF
|
451 |
483 |
2.85e-1 |
SMART |
|
EGF
|
494 |
526 |
2.02e-1 |
SMART |
|
EGF_Lam
|
542 |
581 |
1.04e-3 |
SMART |
|
EGF
|
580 |
612 |
1.91e-2 |
SMART |
|
EGF
|
623 |
657 |
2.16e1 |
SMART |
|
EGF
|
668 |
700 |
2.48e-1 |
SMART |
|
EGF
|
711 |
743 |
2.81e0 |
SMART |
|
EGF_Lam
|
759 |
798 |
4.16e-3 |
SMART |
|
EGF
|
797 |
829 |
1.73e0 |
SMART |
|
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1026 |
N/A |
INTRINSIC |
|
low complexity region
|
1131 |
1146 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139892
AA Change: C690R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116814
Gene: ENSMUSG00000024593
AA Change: C690R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
EGF
|
108 |
136 |
9.41e-2 |
SMART |
|
EGF_Lam
|
152 |
191 |
3.57e-2 |
SMART |
|
EGF
|
190 |
222 |
5.79e-2 |
SMART |
|
EGF
|
233 |
265 |
1.78e-2 |
SMART |
|
EGF_Lam
|
281 |
320 |
7.58e-6 |
SMART |
|
EGF
|
319 |
351 |
7.13e-2 |
SMART |
|
EGF_Lam
|
368 |
409 |
9.05e-4 |
SMART |
|
EGF
|
408 |
440 |
8.78e-2 |
SMART |
|
EGF
|
451 |
483 |
2.85e-1 |
SMART |
|
EGF
|
494 |
526 |
2.02e-1 |
SMART |
|
EGF_Lam
|
542 |
581 |
1.04e-3 |
SMART |
|
EGF
|
580 |
612 |
1.91e-2 |
SMART |
|
EGF
|
623 |
657 |
2.16e1 |
SMART |
|
EGF
|
668 |
700 |
2.48e-1 |
SMART |
|
EGF
|
711 |
743 |
2.81e0 |
SMART |
|
EGF_Lam
|
759 |
798 |
4.16e-3 |
SMART |
|
EGF
|
797 |
829 |
1.73e0 |
SMART |
|
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1026 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 93.5%
- 3x: 91.0%
- 10x: 86.2%
- 20x: 75.9%
|
| Validation Efficiency |
100% (57/57) |
| 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 multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal spacing of starburst amacrine cells and horizontal cells. Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. Mice heterozygous for this same allele exhibit mild disorganization of starburts amacrine cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
G |
A |
7: 119,384,209 (GRCm39) |
|
probably null |
Het |
| Adam20 |
T |
A |
8: 41,247,985 (GRCm39) |
Y32N |
probably benign |
Het |
| Adm |
T |
C |
7: 110,227,496 (GRCm39) |
V4A |
probably benign |
Het |
| Anpep |
G |
A |
7: 79,489,212 (GRCm39) |
T320I |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,672,341 (GRCm39) |
S1008G |
possibly damaging |
Het |
| B9d1 |
T |
A |
11: 61,396,069 (GRCm39) |
M12K |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,229,438 (GRCm39) |
L1435P |
probably damaging |
Het |
| Cat |
T |
C |
2: 103,302,157 (GRCm39) |
D180G |
probably damaging |
Het |
| Cntln |
C |
T |
4: 84,892,237 (GRCm39) |
T374M |
probably damaging |
Het |
| Cyp2a5 |
G |
A |
7: 26,540,404 (GRCm39) |
R339Q |
probably benign |
Het |
| Defa22 |
T |
C |
8: 21,652,352 (GRCm39) |
L6P |
probably damaging |
Het |
| Dr1 |
T |
A |
5: 108,417,604 (GRCm39) |
I50K |
probably damaging |
Het |
| Eln |
C |
T |
5: 134,766,032 (GRCm39) |
G57E |
unknown |
Het |
| Fat4 |
T |
C |
3: 38,943,153 (GRCm39) |
I682T |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,506 (GRCm39) |
A3386E |
probably damaging |
Het |
| Fcgr3 |
T |
A |
1: 170,885,319 (GRCm39) |
Y102F |
probably damaging |
Het |
| Gm5930 |
A |
T |
14: 44,573,993 (GRCm39) |
L115M |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,386,291 (GRCm39) |
V3748D |
probably damaging |
Het |
| Ino80d |
A |
G |
1: 63,125,145 (GRCm39) |
S106P |
probably benign |
Het |
| Kcns3 |
C |
T |
12: 11,142,749 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,512,830 (GRCm39) |
L1527Q |
probably damaging |
Het |
| Lepr |
T |
G |
4: 101,637,180 (GRCm39) |
S690A |
probably benign |
Het |
| Lrfn5 |
T |
C |
12: 61,890,343 (GRCm39) |
F544S |
probably damaging |
Het |
| Mapkap1 |
C |
A |
2: 34,509,861 (GRCm39) |
H450Q |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,994,445 (GRCm39) |
T485A |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,712,806 (GRCm39) |
M1723T |
probably benign |
Het |
| Nrip3 |
A |
T |
7: 109,364,714 (GRCm39) |
C137* |
probably null |
Het |
| Or5w22 |
T |
A |
2: 87,363,124 (GRCm39) |
I249N |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,122,297 (GRCm39) |
M731K |
probably benign |
Het |
| Pebp1 |
A |
G |
5: 117,421,527 (GRCm39) |
L117P |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,598,995 (GRCm39) |
Y51H |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,284,713 (GRCm39) |
F50S |
probably benign |
Het |
| Prpf4b |
A |
G |
13: 35,083,825 (GRCm39) |
S865G |
probably benign |
Het |
| Ptpn5 |
C |
T |
7: 46,738,354 (GRCm39) |
V243M |
probably benign |
Het |
| Rora |
T |
C |
9: 69,271,841 (GRCm39) |
L273P |
possibly damaging |
Het |
| Rtp4 |
T |
A |
16: 23,432,204 (GRCm39) |
S245R |
probably benign |
Het |
| Scgb2b20 |
C |
T |
7: 33,063,985 (GRCm39) |
G95D |
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,788,040 (GRCm39) |
V820A |
probably benign |
Het |
| Sim2 |
A |
G |
16: 93,895,168 (GRCm39) |
D62G |
possibly damaging |
Het |
| Slc17a4 |
A |
T |
13: 24,084,497 (GRCm39) |
V429D |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,852,799 (GRCm39) |
T42A |
probably damaging |
Het |
| Spata3 |
G |
A |
1: 85,952,169 (GRCm39) |
R141Q |
unknown |
Het |
| Sptbn2 |
A |
T |
19: 4,795,605 (GRCm39) |
E1658D |
probably benign |
Het |
| Tcaf1 |
T |
C |
6: 42,655,473 (GRCm39) |
H501R |
probably benign |
Het |
| Tec |
G |
A |
5: 72,931,178 (GRCm39) |
T262M |
possibly damaging |
Het |
| Timm9 |
A |
T |
12: 71,172,305 (GRCm39) |
N22K |
possibly damaging |
Het |
| Tln1 |
C |
T |
4: 43,542,701 (GRCm39) |
|
probably null |
Het |
| Tmbim4 |
A |
G |
10: 120,053,529 (GRCm39) |
I109M |
probably benign |
Het |
| Tmc7 |
T |
C |
7: 118,163,566 (GRCm39) |
K110E |
probably benign |
Het |
| Tmem107 |
C |
T |
11: 68,963,399 (GRCm39) |
P136L |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,061,563 (GRCm39) |
|
probably null |
Het |
| Ubd |
A |
C |
17: 37,506,335 (GRCm39) |
T74P |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,269,486 (GRCm39) |
V255A |
possibly damaging |
Het |
| Vsnl1 |
T |
C |
12: 11,376,448 (GRCm39) |
T146A |
probably benign |
Het |
| Wdr38 |
G |
T |
2: 38,889,984 (GRCm39) |
|
probably null |
Het |
| Yes1 |
T |
A |
5: 32,841,969 (GRCm39) |
S498T |
possibly damaging |
Het |
| Zc3h13 |
G |
A |
14: 75,569,323 (GRCm39) |
R1390H |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,635,949 (GRCm39) |
V126A |
possibly damaging |
Het |
|
| Other mutations in Megf10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Megf10
|
APN |
18 |
57,373,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00736:Megf10
|
APN |
18 |
57,425,782 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01631:Megf10
|
APN |
18 |
57,392,869 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02488:Megf10
|
APN |
18 |
57,425,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02747:Megf10
|
APN |
18 |
57,423,565 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03298:Megf10
|
APN |
18 |
57,416,910 (GRCm39) |
nonsense |
probably null |
|
|
deep
|
UTSW |
18 |
57,395,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
megalodon
|
UTSW |
18 |
57,421,048 (GRCm39) |
nonsense |
probably null |
|
|
sharkie
|
UTSW |
18 |
57,324,257 (GRCm39) |
nonsense |
probably null |
|
|
IGL03046:Megf10
|
UTSW |
18 |
57,421,055 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0020:Megf10
|
UTSW |
18 |
57,420,965 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0020:Megf10
|
UTSW |
18 |
57,420,965 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0115:Megf10
|
UTSW |
18 |
57,392,874 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0455:Megf10
|
UTSW |
18 |
57,386,054 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0602:Megf10
|
UTSW |
18 |
57,395,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0630:Megf10
|
UTSW |
18 |
57,421,067 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0652:Megf10
|
UTSW |
18 |
57,410,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0658:Megf10
|
UTSW |
18 |
57,385,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0761:Megf10
|
UTSW |
18 |
57,421,048 (GRCm39) |
nonsense |
probably null |
|
|
R1013:Megf10
|
UTSW |
18 |
57,394,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1130:Megf10
|
UTSW |
18 |
57,395,078 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1451:Megf10
|
UTSW |
18 |
57,385,931 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1699:Megf10
|
UTSW |
18 |
57,410,802 (GRCm39) |
splice site |
probably null |
|
|
R1729:Megf10
|
UTSW |
18 |
57,373,864 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1784:Megf10
|
UTSW |
18 |
57,373,864 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1870:Megf10
|
UTSW |
18 |
57,324,257 (GRCm39) |
nonsense |
probably null |
|
|
R1961:Megf10
|
UTSW |
18 |
57,345,426 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2094:Megf10
|
UTSW |
18 |
57,414,785 (GRCm39) |
nonsense |
probably null |
|
|
R2213:Megf10
|
UTSW |
18 |
57,421,081 (GRCm39) |
nonsense |
probably null |
|
|
R2853:Megf10
|
UTSW |
18 |
57,427,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Megf10
|
UTSW |
18 |
57,416,934 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3774:Megf10
|
UTSW |
18 |
57,410,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3775:Megf10
|
UTSW |
18 |
57,410,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3776:Megf10
|
UTSW |
18 |
57,410,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3858:Megf10
|
UTSW |
18 |
57,408,907 (GRCm39) |
splice site |
probably benign |
|
|
R3911:Megf10
|
UTSW |
18 |
57,422,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3966:Megf10
|
UTSW |
18 |
57,313,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Megf10
|
UTSW |
18 |
57,392,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4131:Megf10
|
UTSW |
18 |
57,313,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4598:Megf10
|
UTSW |
18 |
57,322,675 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4598:Megf10
|
UTSW |
18 |
57,420,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Megf10
|
UTSW |
18 |
57,420,864 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4765:Megf10
|
UTSW |
18 |
57,420,866 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4874:Megf10
|
UTSW |
18 |
57,426,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4928:Megf10
|
UTSW |
18 |
57,373,745 (GRCm39) |
missense |
probably benign |
|
|
R5412:Megf10
|
UTSW |
18 |
57,324,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5901:Megf10
|
UTSW |
18 |
57,410,180 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6015:Megf10
|
UTSW |
18 |
57,386,100 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6036:Megf10
|
UTSW |
18 |
57,375,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Megf10
|
UTSW |
18 |
57,375,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Megf10
|
UTSW |
18 |
57,313,621 (GRCm39) |
missense |
probably benign |
|
|
R6369:Megf10
|
UTSW |
18 |
57,394,259 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6479:Megf10
|
UTSW |
18 |
57,379,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6489:Megf10
|
UTSW |
18 |
57,424,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7228:Megf10
|
UTSW |
18 |
57,322,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Megf10
|
UTSW |
18 |
57,408,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7437:Megf10
|
UTSW |
18 |
57,395,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7461:Megf10
|
UTSW |
18 |
57,385,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7488:Megf10
|
UTSW |
18 |
57,324,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7492:Megf10
|
UTSW |
18 |
57,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7542:Megf10
|
UTSW |
18 |
57,322,642 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7636:Megf10
|
UTSW |
18 |
57,410,061 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7646:Megf10
|
UTSW |
18 |
57,427,071 (GRCm39) |
unclassified |
probably benign |
|
|
R7650:Megf10
|
UTSW |
18 |
57,427,071 (GRCm39) |
unclassified |
probably benign |
|
|
R7713:Megf10
|
UTSW |
18 |
57,427,071 (GRCm39) |
unclassified |
probably benign |
|
|
R7714:Megf10
|
UTSW |
18 |
57,427,071 (GRCm39) |
unclassified |
probably benign |
|
|
R7716:Megf10
|
UTSW |
18 |
57,427,071 (GRCm39) |
unclassified |
probably benign |
|
|
R7796:Megf10
|
UTSW |
18 |
57,410,731 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7915:Megf10
|
UTSW |
18 |
57,373,807 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8221:Megf10
|
UTSW |
18 |
57,416,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8527:Megf10
|
UTSW |
18 |
57,425,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8559:Megf10
|
UTSW |
18 |
57,373,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9117:Megf10
|
UTSW |
18 |
57,392,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9337:Megf10
|
UTSW |
18 |
57,394,252 (GRCm39) |
nonsense |
probably null |
|
|
R9481:Megf10
|
UTSW |
18 |
57,395,090 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9644:Megf10
|
UTSW |
18 |
57,375,773 (GRCm39) |
missense |
probably benign |
|
|
RF003:Megf10
|
UTSW |
18 |
57,427,099 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Megf10
|
UTSW |
18 |
57,410,766 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGTCTTCTCAACTGAAGGC -3'
(R):5'- TCCAGAGACTCACATCAATGTATC -3'
Sequencing Primer
(F):5'- GGCAGCTGGGTGTGACC -3'
(R):5'- AGAGACTCACATCAATGTATCAGTAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation