Incidental Mutation 'R1479:Megf6'
ID |
164190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Megf6
|
Ensembl Gene |
ENSMUSG00000057751 |
Gene Name |
multiple EGF-like-domains 6 |
Synonyms |
2600001P17Rik, Egfl3 |
MMRRC Submission |
039532-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1479 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
154255187-154360170 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 154261578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 68
(V68L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030897]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030897
AA Change: V68L
PolyPhen 2
Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000030897 Gene: ENSMUSG00000057751 AA Change: V68L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
EGF_CA
|
122 |
162 |
1.54e-6 |
SMART |
EGF_CA
|
163 |
203 |
2.08e-12 |
SMART |
EGF
|
207 |
245 |
5.4e-2 |
SMART |
EGF
|
249 |
286 |
2.39e-3 |
SMART |
EGF_CA
|
287 |
327 |
4.96e-10 |
SMART |
EGF
|
336 |
373 |
1.64e-1 |
SMART |
EGF
|
377 |
413 |
1.99e1 |
SMART |
EGF_CA
|
414 |
454 |
7.4e-9 |
SMART |
EGF
|
521 |
554 |
4.26e0 |
SMART |
EGF_Lam
|
570 |
609 |
1.19e-3 |
SMART |
EGF_like
|
613 |
652 |
5.29e-1 |
SMART |
EGF
|
642 |
685 |
2.2e1 |
SMART |
EGF_Lam
|
656 |
697 |
1.04e-3 |
SMART |
EGF
|
687 |
730 |
1.59e1 |
SMART |
EGF_like
|
701 |
742 |
2.27e0 |
SMART |
EGF_Lam
|
746 |
784 |
1.33e-1 |
SMART |
EGF
|
783 |
816 |
2.85e-1 |
SMART |
EGF_Lam
|
832 |
871 |
3.88e-3 |
SMART |
EGF_Lam
|
875 |
915 |
3.25e-5 |
SMART |
EGF
|
914 |
946 |
4.7e-2 |
SMART |
EGF_like
|
962 |
1001 |
1.69e-1 |
SMART |
EGF
|
1000 |
1032 |
7.02e-1 |
SMART |
EGF_Lam
|
1048 |
1087 |
3.1e-2 |
SMART |
EGF
|
1077 |
1118 |
7.53e-1 |
SMART |
EGF_like
|
1091 |
1130 |
5.59e-1 |
SMART |
EGF
|
1129 |
1161 |
5.04e-2 |
SMART |
EGF_Lam
|
1177 |
1216 |
2.94e-3 |
SMART |
EGF
|
1206 |
1248 |
1.87e1 |
SMART |
EGF_Lam
|
1220 |
1260 |
3.1e-2 |
SMART |
EGF
|
1259 |
1291 |
1.73e0 |
SMART |
EGF
|
1302 |
1334 |
6.55e-1 |
SMART |
EGF
|
1345 |
1377 |
4.39e-2 |
SMART |
EGF_Lam
|
1393 |
1432 |
7.64e-2 |
SMART |
EGF_Lam
|
1436 |
1475 |
2.64e-5 |
SMART |
EGF_like
|
1465 |
1506 |
4.2e1 |
SMART |
EGF_Lam
|
1479 |
1518 |
1.19e-3 |
SMART |
EGF
|
1517 |
1549 |
1.84e1 |
SMART |
|
Meta Mutation Damage Score |
0.0895 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
96% (81/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310030G06Rik |
T |
A |
9: 50,652,601 (GRCm39) |
T58S |
possibly damaging |
Het |
Alox12e |
A |
G |
11: 70,211,608 (GRCm39) |
V252A |
probably benign |
Het |
Anks6 |
T |
C |
4: 47,044,874 (GRCm39) |
D344G |
probably damaging |
Het |
Atg14 |
A |
T |
14: 47,784,696 (GRCm39) |
|
probably null |
Het |
Bcr |
G |
T |
10: 74,896,957 (GRCm39) |
E34* |
probably null |
Het |
Birc6 |
C |
T |
17: 74,941,848 (GRCm39) |
T2728M |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,201,059 (GRCm39) |
N326K |
probably benign |
Het |
Brme1 |
C |
A |
8: 84,889,026 (GRCm39) |
T123K |
possibly damaging |
Het |
Ccdc188 |
A |
C |
16: 18,037,154 (GRCm39) |
T242P |
possibly damaging |
Het |
Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
Cdin1 |
T |
A |
2: 115,469,494 (GRCm39) |
N74K |
probably benign |
Het |
Chsy3 |
A |
T |
18: 59,541,985 (GRCm39) |
E374D |
probably benign |
Het |
Clca4b |
A |
T |
3: 144,621,229 (GRCm39) |
V615E |
probably damaging |
Het |
Clcnka |
C |
A |
4: 141,116,758 (GRCm39) |
A498S |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,721,282 (GRCm39) |
C1450R |
probably damaging |
Het |
Cul7 |
C |
A |
17: 46,962,673 (GRCm39) |
D101E |
probably damaging |
Het |
Cyp27b1 |
G |
A |
10: 126,887,580 (GRCm39) |
|
probably null |
Het |
Cyp2d22 |
A |
G |
15: 82,256,137 (GRCm39) |
S404P |
probably damaging |
Het |
Dclk3 |
G |
A |
9: 111,297,614 (GRCm39) |
S386N |
probably benign |
Het |
Dnah10 |
G |
A |
5: 124,854,953 (GRCm39) |
D1953N |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,303,596 (GRCm39) |
|
probably null |
Het |
Egfem1 |
A |
G |
3: 29,711,314 (GRCm39) |
N241D |
probably damaging |
Het |
Entpd7 |
T |
C |
19: 43,710,279 (GRCm39) |
F312S |
probably damaging |
Het |
Esp34 |
T |
A |
17: 38,865,219 (GRCm39) |
|
probably benign |
Het |
Foxd2 |
T |
A |
4: 114,765,115 (GRCm39) |
T302S |
unknown |
Het |
Fzd6 |
A |
T |
15: 38,894,394 (GRCm39) |
N187Y |
probably damaging |
Het |
Gbp9 |
C |
T |
5: 105,241,930 (GRCm39) |
|
probably benign |
Het |
Gna14 |
T |
C |
19: 16,511,133 (GRCm39) |
S61P |
possibly damaging |
Het |
Grap |
A |
T |
11: 61,551,124 (GRCm39) |
Y52F |
probably benign |
Het |
H2-T3 |
T |
C |
17: 36,500,320 (GRCm39) |
Y125C |
probably damaging |
Het |
Hax1 |
C |
A |
3: 89,903,164 (GRCm39) |
E212D |
probably damaging |
Het |
Hecw1 |
A |
C |
13: 14,491,077 (GRCm39) |
S638R |
probably benign |
Het |
Hira |
A |
T |
16: 18,715,219 (GRCm39) |
K39M |
probably damaging |
Het |
Hoxa2 |
T |
A |
6: 52,140,320 (GRCm39) |
D222V |
probably damaging |
Het |
Hycc2 |
T |
A |
1: 58,591,427 (GRCm39) |
R91* |
probably null |
Het |
Jph2 |
C |
T |
2: 163,181,191 (GRCm39) |
V658M |
possibly damaging |
Het |
Kansl1 |
A |
T |
11: 104,233,242 (GRCm39) |
S762T |
probably damaging |
Het |
Kat6b |
T |
A |
14: 21,669,024 (GRCm39) |
C267S |
probably benign |
Het |
Klk6 |
A |
G |
7: 43,481,058 (GRCm39) |
N250S |
probably benign |
Het |
Lbp |
T |
C |
2: 158,161,634 (GRCm39) |
L232S |
probably damaging |
Het |
Lcn9 |
A |
T |
2: 25,713,715 (GRCm39) |
|
probably benign |
Het |
Lcp2 |
A |
G |
11: 34,025,068 (GRCm39) |
H213R |
probably benign |
Het |
Lrrc9 |
A |
T |
12: 72,507,599 (GRCm39) |
K367* |
probably null |
Het |
Lyst |
A |
G |
13: 13,809,067 (GRCm39) |
I246V |
probably benign |
Het |
Mst1r |
T |
C |
9: 107,790,544 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,733,020 (GRCm39) |
E909G |
probably benign |
Het |
Nipbl |
A |
T |
15: 8,379,773 (GRCm39) |
D1006E |
probably benign |
Het |
Or4k5 |
C |
A |
14: 50,386,245 (GRCm39) |
V29F |
probably benign |
Het |
Or5d37 |
A |
G |
2: 87,923,630 (GRCm39) |
F217L |
probably benign |
Het |
Or8d1b |
A |
T |
9: 38,887,058 (GRCm39) |
I29F |
probably benign |
Het |
Otog |
A |
G |
7: 45,945,402 (GRCm39) |
I2220V |
possibly damaging |
Het |
Pcx |
T |
A |
19: 4,652,052 (GRCm39) |
I99N |
probably damaging |
Het |
Pi4ka |
C |
T |
16: 17,191,264 (GRCm39) |
G211D |
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,814,883 (GRCm39) |
S614G |
probably benign |
Het |
Prdx6 |
G |
A |
1: 161,071,833 (GRCm39) |
A111V |
probably damaging |
Het |
Prorp |
T |
A |
12: 55,426,172 (GRCm39) |
D138E |
probably damaging |
Het |
Prss51 |
G |
A |
14: 64,333,619 (GRCm39) |
|
probably null |
Het |
Psmd6 |
C |
T |
14: 14,116,819 (GRCm38) |
|
probably benign |
Het |
Pten |
T |
A |
19: 32,797,250 (GRCm39) |
L345Q |
probably damaging |
Het |
Qrich2 |
T |
G |
11: 116,332,311 (GRCm39) |
H2295P |
probably benign |
Het |
Rgs11 |
T |
C |
17: 26,427,257 (GRCm39) |
|
probably null |
Het |
Rgs6 |
A |
G |
12: 83,163,018 (GRCm39) |
E408G |
probably damaging |
Het |
Septin4 |
G |
T |
11: 87,458,244 (GRCm39) |
R206L |
probably damaging |
Het |
Slc38a7 |
T |
C |
8: 96,575,122 (GRCm39) |
T53A |
probably benign |
Het |
Spata31g1 |
A |
C |
4: 42,972,543 (GRCm39) |
K625N |
possibly damaging |
Het |
Sptbn1 |
A |
G |
11: 30,063,909 (GRCm39) |
C1957R |
probably damaging |
Het |
Sumf1 |
T |
C |
6: 108,153,019 (GRCm39) |
Y123C |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,771,233 (GRCm39) |
|
probably null |
Het |
Ttc21a |
C |
A |
9: 119,786,013 (GRCm39) |
D670E |
probably benign |
Het |
Ttn |
A |
G |
2: 76,574,855 (GRCm39) |
V25346A |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,153,151 (GRCm39) |
T2070A |
possibly damaging |
Het |
Vmn2r57 |
C |
A |
7: 41,077,254 (GRCm39) |
W304L |
possibly damaging |
Het |
Vps13a |
T |
C |
19: 16,727,478 (GRCm39) |
|
probably benign |
Het |
Zfp647 |
A |
G |
15: 76,795,403 (GRCm39) |
V419A |
possibly damaging |
Het |
|
Other mutations in Megf6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01122:Megf6
|
APN |
4 |
154,338,264 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01410:Megf6
|
APN |
4 |
154,337,020 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01512:Megf6
|
APN |
4 |
154,347,040 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL01824:Megf6
|
APN |
4 |
154,336,691 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02172:Megf6
|
APN |
4 |
154,355,149 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02727:Megf6
|
APN |
4 |
154,337,606 (GRCm39) |
splice site |
probably null |
|
IGL02966:Megf6
|
APN |
4 |
154,338,234 (GRCm39) |
missense |
probably damaging |
1.00 |
Didactic
|
UTSW |
4 |
154,339,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R0118:Megf6
|
UTSW |
4 |
154,339,098 (GRCm39) |
missense |
probably damaging |
0.99 |
R0220:Megf6
|
UTSW |
4 |
154,342,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Megf6
|
UTSW |
4 |
154,339,092 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0383:Megf6
|
UTSW |
4 |
154,349,783 (GRCm39) |
missense |
probably benign |
0.01 |
R0417:Megf6
|
UTSW |
4 |
154,352,424 (GRCm39) |
missense |
probably benign |
0.06 |
R0526:Megf6
|
UTSW |
4 |
154,343,398 (GRCm39) |
missense |
probably benign |
|
R0528:Megf6
|
UTSW |
4 |
154,343,630 (GRCm39) |
missense |
probably benign |
0.04 |
R0928:Megf6
|
UTSW |
4 |
154,261,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R1311:Megf6
|
UTSW |
4 |
154,348,239 (GRCm39) |
splice site |
probably null |
|
R1458:Megf6
|
UTSW |
4 |
154,261,578 (GRCm39) |
missense |
probably benign |
0.39 |
R1470:Megf6
|
UTSW |
4 |
154,336,876 (GRCm39) |
splice site |
probably benign |
|
R1476:Megf6
|
UTSW |
4 |
154,261,578 (GRCm39) |
missense |
probably benign |
0.39 |
R1624:Megf6
|
UTSW |
4 |
154,261,578 (GRCm39) |
missense |
probably benign |
0.39 |
R1626:Megf6
|
UTSW |
4 |
154,261,578 (GRCm39) |
missense |
probably benign |
0.39 |
R1638:Megf6
|
UTSW |
4 |
154,346,967 (GRCm39) |
splice site |
probably benign |
|
R1777:Megf6
|
UTSW |
4 |
154,355,147 (GRCm39) |
nonsense |
probably null |
|
R1831:Megf6
|
UTSW |
4 |
154,355,134 (GRCm39) |
missense |
probably benign |
0.00 |
R1944:Megf6
|
UTSW |
4 |
154,340,523 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1984:Megf6
|
UTSW |
4 |
154,352,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R2109:Megf6
|
UTSW |
4 |
154,261,578 (GRCm39) |
missense |
probably benign |
0.39 |
R2448:Megf6
|
UTSW |
4 |
154,351,102 (GRCm39) |
splice site |
probably null |
|
R2880:Megf6
|
UTSW |
4 |
154,337,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R4032:Megf6
|
UTSW |
4 |
154,261,550 (GRCm39) |
nonsense |
probably null |
|
R4058:Megf6
|
UTSW |
4 |
154,326,989 (GRCm39) |
splice site |
probably benign |
|
R4672:Megf6
|
UTSW |
4 |
154,333,909 (GRCm39) |
missense |
probably damaging |
0.99 |
R4688:Megf6
|
UTSW |
4 |
154,338,271 (GRCm39) |
missense |
probably damaging |
0.99 |
R4752:Megf6
|
UTSW |
4 |
154,336,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Megf6
|
UTSW |
4 |
154,338,738 (GRCm39) |
critical splice donor site |
probably null |
|
R4909:Megf6
|
UTSW |
4 |
154,349,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R4942:Megf6
|
UTSW |
4 |
154,338,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Megf6
|
UTSW |
4 |
154,351,907 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4990:Megf6
|
UTSW |
4 |
154,351,683 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5001:Megf6
|
UTSW |
4 |
154,352,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R5189:Megf6
|
UTSW |
4 |
154,336,980 (GRCm39) |
missense |
probably benign |
0.31 |
R5210:Megf6
|
UTSW |
4 |
154,354,273 (GRCm39) |
intron |
probably benign |
|
R5220:Megf6
|
UTSW |
4 |
154,338,295 (GRCm39) |
critical splice donor site |
probably null |
|
R5250:Megf6
|
UTSW |
4 |
154,340,467 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5697:Megf6
|
UTSW |
4 |
154,342,686 (GRCm39) |
missense |
probably null |
0.15 |
R5808:Megf6
|
UTSW |
4 |
154,352,119 (GRCm39) |
missense |
probably benign |
|
R5916:Megf6
|
UTSW |
4 |
154,333,882 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6054:Megf6
|
UTSW |
4 |
154,347,636 (GRCm39) |
missense |
probably benign |
0.06 |
R6075:Megf6
|
UTSW |
4 |
154,347,056 (GRCm39) |
nonsense |
probably null |
|
R6515:Megf6
|
UTSW |
4 |
154,343,376 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6599:Megf6
|
UTSW |
4 |
154,342,544 (GRCm39) |
splice site |
probably null |
|
R6811:Megf6
|
UTSW |
4 |
154,336,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R6925:Megf6
|
UTSW |
4 |
154,339,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R7023:Megf6
|
UTSW |
4 |
154,338,602 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7117:Megf6
|
UTSW |
4 |
154,343,379 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7163:Megf6
|
UTSW |
4 |
154,351,898 (GRCm39) |
missense |
probably damaging |
0.98 |
R7345:Megf6
|
UTSW |
4 |
154,351,772 (GRCm39) |
missense |
probably benign |
|
R7580:Megf6
|
UTSW |
4 |
154,355,201 (GRCm39) |
nonsense |
probably null |
|
R7649:Megf6
|
UTSW |
4 |
154,349,542 (GRCm39) |
missense |
probably damaging |
0.96 |
R7702:Megf6
|
UTSW |
4 |
154,354,927 (GRCm39) |
missense |
probably benign |
0.00 |
R8010:Megf6
|
UTSW |
4 |
154,354,964 (GRCm39) |
missense |
probably benign |
0.13 |
R8175:Megf6
|
UTSW |
4 |
154,353,076 (GRCm39) |
nonsense |
probably null |
|
R8231:Megf6
|
UTSW |
4 |
154,336,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R8436:Megf6
|
UTSW |
4 |
154,349,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R8460:Megf6
|
UTSW |
4 |
154,350,634 (GRCm39) |
nonsense |
probably null |
|
R8738:Megf6
|
UTSW |
4 |
154,352,436 (GRCm39) |
missense |
probably benign |
|
R8854:Megf6
|
UTSW |
4 |
154,352,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R8896:Megf6
|
UTSW |
4 |
154,326,860 (GRCm39) |
missense |
probably damaging |
0.99 |
R9098:Megf6
|
UTSW |
4 |
154,354,160 (GRCm39) |
missense |
probably damaging |
0.99 |
R9147:Megf6
|
UTSW |
4 |
154,339,130 (GRCm39) |
missense |
probably benign |
0.18 |
R9148:Megf6
|
UTSW |
4 |
154,339,130 (GRCm39) |
missense |
probably benign |
0.18 |
R9161:Megf6
|
UTSW |
4 |
154,352,172 (GRCm39) |
missense |
probably benign |
0.44 |
R9355:Megf6
|
UTSW |
4 |
154,338,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R9386:Megf6
|
UTSW |
4 |
154,340,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R9404:Megf6
|
UTSW |
4 |
154,348,225 (GRCm39) |
missense |
|
|
R9469:Megf6
|
UTSW |
4 |
154,335,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R9472:Megf6
|
UTSW |
4 |
154,333,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R9777:Megf6
|
UTSW |
4 |
154,343,617 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Megf6
|
UTSW |
4 |
154,322,283 (GRCm39) |
missense |
probably benign |
0.12 |
Z1177:Megf6
|
UTSW |
4 |
154,354,198 (GRCm39) |
nonsense |
probably null |
|
Z1177:Megf6
|
UTSW |
4 |
154,352,204 (GRCm39) |
nonsense |
probably null |
|
Z1177:Megf6
|
UTSW |
4 |
154,352,139 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Megf6
|
UTSW |
4 |
154,352,138 (GRCm39) |
missense |
possibly damaging |
0.48 |
Z1177:Megf6
|
UTSW |
4 |
154,335,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTATTAGGGACAGCCCCATGCAGC -3'
(R):5'- TGAAAGGCCATGCCCTCAGTAAAG -3'
Sequencing Primer
(F):5'- CTTGTCCTGGAGTCCCAAGTG -3'
(R):5'- CATGCCCTCAGTAAAGGGAATG -3'
|
Posted On |
2014-03-28 |