Incidental Mutation 'R3552:Megf11'
| ID |
269001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Megf11
|
| Ensembl Gene |
ENSMUSG00000036466 |
| Gene Name |
multiple EGF-like-domains 11 |
| Synonyms |
2410080H04Rik |
| MMRRC Submission |
040669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R3552 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
64292908-64616487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64602745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 862
(D862G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068967]
[ENSMUST00000093829]
[ENSMUST00000118485]
[ENSMUST00000164113]
|
| AlphaFold |
Q80T91 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068967
AA Change: D936G
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: D936G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
84 |
N/A |
INTRINSIC |
|
EGF
|
101 |
129 |
1.85e0 |
SMART |
|
EGF_Lam
|
145 |
184 |
9.55e-3 |
SMART |
|
EGF_Lam
|
188 |
227 |
2e-5 |
SMART |
|
EGF
|
226 |
258 |
5.57e-4 |
SMART |
|
EGF_Lam
|
274 |
313 |
1.26e-2 |
SMART |
|
EGF_Lam
|
317 |
357 |
2.52e-2 |
SMART |
|
EGF_Lam
|
361 |
402 |
4.16e-3 |
SMART |
|
EGF
|
401 |
433 |
6.21e-2 |
SMART |
|
EGF
|
444 |
476 |
4.1e-2 |
SMART |
|
EGF
|
487 |
519 |
7.02e-1 |
SMART |
|
EGF_Lam
|
535 |
574 |
1.43e-1 |
SMART |
|
EGF_Lam
|
578 |
617 |
5.04e-2 |
SMART |
|
EGF
|
616 |
650 |
8.52e0 |
SMART |
|
EGF
|
661 |
693 |
9.41e-2 |
SMART |
|
EGF
|
704 |
736 |
8.52e0 |
SMART |
|
EGF_Lam
|
752 |
791 |
2.99e-4 |
SMART |
|
EGF
|
790 |
822 |
1.14e0 |
SMART |
|
transmembrane domain
|
848 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1037 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093829
AA Change: D862G
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: D862G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
84 |
N/A |
INTRINSIC |
|
EGF_Lam
|
114 |
153 |
9.55e-3 |
SMART |
|
EGF_Lam
|
157 |
196 |
2e-5 |
SMART |
|
EGF
|
195 |
227 |
5.57e-4 |
SMART |
|
EGF_Lam
|
243 |
282 |
1.26e-2 |
SMART |
|
EGF_Lam
|
286 |
326 |
2.52e-2 |
SMART |
|
EGF_Lam
|
330 |
371 |
4.16e-3 |
SMART |
|
EGF
|
370 |
402 |
6.21e-2 |
SMART |
|
EGF
|
413 |
445 |
4.1e-2 |
SMART |
|
EGF
|
456 |
488 |
7.02e-1 |
SMART |
|
EGF_Lam
|
504 |
543 |
1.43e-1 |
SMART |
|
EGF_Lam
|
547 |
586 |
5.04e-2 |
SMART |
|
EGF
|
585 |
619 |
8.52e0 |
SMART |
|
EGF
|
630 |
662 |
9.41e-2 |
SMART |
|
EGF_Lam
|
678 |
717 |
2.99e-4 |
SMART |
|
EGF
|
716 |
748 |
1.14e0 |
SMART |
|
transmembrane domain
|
774 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
835 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118485
|
| SMART Domains |
Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
84 |
N/A |
INTRINSIC |
|
EGF
|
101 |
129 |
1.85e0 |
SMART |
|
EGF_Lam
|
145 |
184 |
9.55e-3 |
SMART |
|
EGF_Lam
|
188 |
227 |
2e-5 |
SMART |
|
EGF
|
226 |
258 |
5.57e-4 |
SMART |
|
EGF_Lam
|
274 |
313 |
1.26e-2 |
SMART |
|
EGF_Lam
|
317 |
357 |
2.52e-2 |
SMART |
|
EGF_Lam
|
361 |
402 |
4.16e-3 |
SMART |
|
EGF
|
401 |
433 |
6.21e-2 |
SMART |
|
EGF
|
444 |
476 |
4.1e-2 |
SMART |
|
EGF
|
487 |
519 |
7.02e-1 |
SMART |
|
EGF_Lam
|
535 |
574 |
1.43e-1 |
SMART |
|
EGF_Lam
|
578 |
617 |
5.04e-2 |
SMART |
|
EGF
|
616 |
650 |
8.52e0 |
SMART |
|
EGF
|
661 |
693 |
9.41e-2 |
SMART |
|
EGF
|
704 |
736 |
8.52e0 |
SMART |
|
EGF_Lam
|
752 |
791 |
2.99e-4 |
SMART |
|
EGF
|
790 |
822 |
1.14e0 |
SMART |
|
transmembrane domain
|
848 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
926 |
941 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124881
|
| SMART Domains |
Protein: ENSMUSP00000120514
Gene: ENSMUSG00000036466
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_like
|
3 |
36 |
2.79e0 |
SMART |
|
EGF
|
35 |
67 |
4.1e-2 |
SMART |
|
EGF
|
78 |
110 |
7.02e-1 |
SMART |
|
EGF_Lam
|
126 |
165 |
1.43e-1 |
SMART |
|
EGF
|
164 |
196 |
1.64e-1 |
SMART |
|
EGF_Lam
|
212 |
251 |
2.99e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153934
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164113
AA Change: D893G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: D893G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
84 |
N/A |
INTRINSIC |
|
EGF
|
101 |
129 |
1.85e0 |
SMART |
|
EGF_Lam
|
145 |
184 |
9.55e-3 |
SMART |
|
EGF_Lam
|
188 |
227 |
2e-5 |
SMART |
|
EGF
|
226 |
258 |
5.57e-4 |
SMART |
|
EGF_Lam
|
274 |
313 |
1.26e-2 |
SMART |
|
EGF_Lam
|
317 |
357 |
2.52e-2 |
SMART |
|
EGF_Lam
|
361 |
402 |
4.16e-3 |
SMART |
|
EGF
|
401 |
433 |
6.21e-2 |
SMART |
|
EGF
|
444 |
476 |
4.1e-2 |
SMART |
|
EGF
|
487 |
519 |
7.02e-1 |
SMART |
|
EGF_Lam
|
535 |
574 |
1.43e-1 |
SMART |
|
EGF_Lam
|
578 |
617 |
5.04e-2 |
SMART |
|
EGF
|
616 |
650 |
8.52e0 |
SMART |
|
EGF
|
661 |
693 |
9.41e-2 |
SMART |
|
EGF_Lam
|
709 |
748 |
2.99e-4 |
SMART |
|
EGF
|
747 |
779 |
1.14e0 |
SMART |
|
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
994 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0656 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal spacing of horizontal cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,371,615 (GRCm39) |
T371A |
probably benign |
Het |
| Akna |
T |
C |
4: 63,316,361 (GRCm39) |
M1V |
probably null |
Het |
| Aldh7a1 |
T |
C |
18: 56,683,364 (GRCm39) |
|
probably null |
Het |
| Ankrd26 |
A |
T |
6: 118,484,737 (GRCm39) |
L1500H |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,129,584 (GRCm39) |
D452V |
probably damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,167,598 (GRCm39) |
T1333M |
possibly damaging |
Het |
| Carmil3 |
G |
T |
14: 55,744,859 (GRCm39) |
R1276L |
possibly damaging |
Het |
| Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
| Chrm2 |
A |
T |
6: 36,500,745 (GRCm39) |
I201F |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,970,834 (GRCm39) |
T618A |
probably benign |
Het |
| Dele1 |
A |
G |
18: 38,391,418 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,611,787 (GRCm39) |
Y192C |
probably benign |
Het |
| Ep400 |
T |
A |
5: 110,877,153 (GRCm39) |
E821V |
unknown |
Het |
| Esrrg |
G |
A |
1: 187,882,387 (GRCm39) |
V215I |
probably benign |
Het |
| Evx1 |
A |
T |
6: 52,293,908 (GRCm39) |
S359C |
probably damaging |
Het |
| Fcrl2 |
A |
G |
3: 87,166,717 (GRCm39) |
I92T |
possibly damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,110 (GRCm39) |
F106I |
possibly damaging |
Het |
| Gm9944 |
T |
C |
4: 144,179,613 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,921,074 (GRCm39) |
N118D |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,614,584 (GRCm39) |
I323T |
possibly damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,271,724 (GRCm39) |
Y869H |
probably benign |
Het |
| Lrrc4c |
T |
A |
2: 97,460,306 (GRCm39) |
W311R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,421,442 (GRCm39) |
S4311G |
probably benign |
Het |
| Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
| Neo1 |
T |
A |
9: 58,801,161 (GRCm39) |
K1140M |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,750,650 (GRCm39) |
Q365R |
possibly damaging |
Het |
| Oplah |
C |
T |
15: 76,186,294 (GRCm39) |
D734N |
possibly damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
| Or4c58 |
A |
C |
2: 89,674,687 (GRCm39) |
M210R |
possibly damaging |
Het |
| Or9g3 |
T |
C |
2: 85,590,237 (GRCm39) |
N161S |
possibly damaging |
Het |
| Pbx1 |
G |
A |
1: 167,986,362 (GRCm39) |
P411L |
possibly damaging |
Het |
| Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
| Phox2b |
C |
A |
5: 67,254,999 (GRCm39) |
R150L |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,172,848 (GRCm39) |
E169G |
probably damaging |
Het |
| Ptprn2 |
A |
T |
12: 116,852,497 (GRCm39) |
Q518L |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,037,505 (GRCm39) |
I214K |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,582,132 (GRCm39) |
I2854F |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 58,963,470 (GRCm39) |
Y615C |
probably benign |
Het |
| Sirt5 |
A |
T |
13: 43,536,643 (GRCm39) |
N226Y |
probably damaging |
Het |
| Slc30a3 |
G |
A |
5: 31,252,422 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 75,917,358 (GRCm39) |
V226A |
probably damaging |
Het |
| Slf2 |
C |
A |
19: 44,923,390 (GRCm39) |
S68* |
probably null |
Het |
| Smyd5 |
G |
A |
6: 85,419,193 (GRCm39) |
E292K |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,969,543 (GRCm39) |
V512A |
possibly damaging |
Het |
| Sry |
T |
A |
Y: 2,663,141 (GRCm39) |
Q173L |
unknown |
Het |
| Ssrp1 |
C |
A |
2: 84,874,736 (GRCm39) |
Q519K |
probably benign |
Het |
| Tgfbr3 |
T |
C |
5: 107,287,705 (GRCm39) |
E498G |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,937,695 (GRCm39) |
E3861D |
probably damaging |
Het |
| Trbc1 |
G |
T |
6: 41,516,579 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
T |
A |
2: 126,668,630 (GRCm39) |
|
probably benign |
Het |
| Usp39 |
G |
A |
6: 72,314,815 (GRCm39) |
T197I |
possibly damaging |
Het |
| Vmn1r38 |
T |
C |
6: 66,753,477 (GRCm39) |
H213R |
possibly damaging |
Het |
| Washc2 |
A |
G |
6: 116,197,529 (GRCm39) |
D168G |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,382,720 (GRCm39) |
I45V |
probably benign |
Het |
| Zfp352 |
A |
G |
4: 90,113,339 (GRCm39) |
E493G |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
| Zfp735 |
C |
A |
11: 73,602,067 (GRCm39) |
S337* |
probably null |
Het |
|
| Other mutations in Megf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Megf11
|
APN |
9 |
64,416,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Megf11
|
APN |
9 |
64,567,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01309:Megf11
|
APN |
9 |
64,588,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01953:Megf11
|
APN |
9 |
64,597,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Megf11
|
APN |
9 |
64,451,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02407:Megf11
|
APN |
9 |
64,587,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02621:Megf11
|
APN |
9 |
64,601,214 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0277:Megf11
|
UTSW |
9 |
64,598,632 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0386:Megf11
|
UTSW |
9 |
64,547,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1354:Megf11
|
UTSW |
9 |
64,560,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1709:Megf11
|
UTSW |
9 |
64,602,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Megf11
|
UTSW |
9 |
64,587,581 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1895:Megf11
|
UTSW |
9 |
64,586,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Megf11
|
UTSW |
9 |
64,586,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2221:Megf11
|
UTSW |
9 |
64,567,713 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2223:Megf11
|
UTSW |
9 |
64,567,713 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4641:Megf11
|
UTSW |
9 |
64,597,407 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4746:Megf11
|
UTSW |
9 |
64,416,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Megf11
|
UTSW |
9 |
64,593,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5716:Megf11
|
UTSW |
9 |
64,413,392 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5898:Megf11
|
UTSW |
9 |
64,593,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Megf11
|
UTSW |
9 |
64,567,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6372:Megf11
|
UTSW |
9 |
64,613,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Megf11
|
UTSW |
9 |
64,451,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6868:Megf11
|
UTSW |
9 |
64,587,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Megf11
|
UTSW |
9 |
64,613,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6984:Megf11
|
UTSW |
9 |
64,593,734 (GRCm39) |
missense |
probably benign |
|
|
R7155:Megf11
|
UTSW |
9 |
64,555,233 (GRCm39) |
missense |
probably null |
1.00 |
|
R7638:Megf11
|
UTSW |
9 |
64,586,535 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7643:Megf11
|
UTSW |
9 |
64,613,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Megf11
|
UTSW |
9 |
64,599,146 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7840:Megf11
|
UTSW |
9 |
64,602,709 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8744:Megf11
|
UTSW |
9 |
64,451,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8799:Megf11
|
UTSW |
9 |
64,588,673 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9383:Megf11
|
UTSW |
9 |
64,545,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9493:Megf11
|
UTSW |
9 |
64,547,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9797:Megf11
|
UTSW |
9 |
64,545,591 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
V5088:Megf11
|
UTSW |
9 |
64,597,351 (GRCm39) |
nonsense |
probably null |
|
|
V5622:Megf11
|
UTSW |
9 |
64,597,351 (GRCm39) |
nonsense |
probably null |
|
|
V5622:Megf11
|
UTSW |
9 |
64,597,351 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Megf11
|
UTSW |
9 |
64,567,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Megf11
|
UTSW |
9 |
64,587,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTCTTTGCTGGGGATAC -3'
(R):5'- TAGAGCTTGTCTCCATACATGTTC -3'
Sequencing Primer
(F):5'- TGCATAACCCCAGCATTAGTTTGG -3'
(R):5'- CTTTCCCTGTTATGTGATTCAGAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation