Incidental Mutation 'R0386:Megf11'
| ID |
31295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Megf11
|
| Ensembl Gene |
ENSMUSG00000036466 |
| Gene Name |
multiple EGF-like-domains 11 |
| Synonyms |
2410080H04Rik |
| MMRRC Submission |
038592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R0386 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
64292908-64616487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64547360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 235
(N235D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068967]
[ENSMUST00000093829]
[ENSMUST00000118485]
[ENSMUST00000164113]
|
| AlphaFold |
Q80T91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068967
AA Change: N235D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: N235D
| 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 |
probably damaging
Transcript: ENSMUST00000093829
AA Change: N204D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: N204D
| 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 damaging
Transcript: ENSMUST00000118485
AA Change: N235D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
AA Change: N235D
| 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 |
noncoding transcript
Transcript: ENSMUST00000144383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148449
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164113
AA Change: N235D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: N235D
| 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 |
0.2995 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,044,308 (GRCm39) |
V194A |
probably damaging |
Het |
| Adamts13 |
G |
A |
2: 26,876,691 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
C |
19: 8,988,508 (GRCm39) |
M3264T |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,906,335 (GRCm39) |
C1409S |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,338,687 (GRCm39) |
V3161A |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,383,727 (GRCm39) |
Y2983F |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,060,107 (GRCm39) |
L2774F |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,256,917 (GRCm39) |
T4398S |
probably damaging |
Het |
| Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,063,204 (GRCm39) |
M96K |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,063,902 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,535,213 (GRCm39) |
A1214T |
probably benign |
Het |
| Fn1 |
G |
T |
1: 71,634,945 (GRCm39) |
T2127N |
probably damaging |
Het |
| Foxj1 |
A |
T |
11: 116,222,629 (GRCm39) |
S391R |
possibly damaging |
Het |
| Gabrb1 |
A |
T |
5: 72,266,150 (GRCm39) |
Y269F |
probably damaging |
Het |
| Ghitm |
A |
G |
14: 36,847,868 (GRCm39) |
S259P |
possibly damaging |
Het |
| Gm16332 |
A |
G |
1: 139,851,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gm16380 |
T |
A |
9: 53,791,727 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9869 |
A |
T |
9: 60,745,344 (GRCm39) |
|
probably benign |
Het |
| Gm9936 |
G |
A |
5: 114,995,192 (GRCm39) |
Q142* |
probably null |
Het |
| Hmbs |
T |
C |
9: 44,248,305 (GRCm39) |
Y260C |
probably benign |
Het |
| Hoxc5 |
T |
A |
15: 102,923,784 (GRCm39) |
C193* |
probably null |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Lce1j |
T |
C |
3: 92,696,695 (GRCm39) |
K28E |
unknown |
Het |
| Lpgat1 |
C |
T |
1: 191,451,460 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,882,799 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
T |
A |
9: 107,794,003 (GRCm39) |
|
probably null |
Het |
| Nr2c2ap |
A |
G |
8: 70,584,237 (GRCm39) |
D9G |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,027,165 (GRCm39) |
T13A |
probably damaging |
Het |
| Ofcc1 |
A |
C |
13: 40,367,950 (GRCm39) |
L188* |
probably null |
Het |
| Oma1 |
A |
T |
4: 103,182,398 (GRCm39) |
|
probably benign |
Het |
| Or10aa3 |
A |
T |
1: 173,877,965 (GRCm39) |
T9S |
probably benign |
Het |
| Or5m11 |
A |
G |
2: 85,782,217 (GRCm39) |
E270G |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,769,060 (GRCm39) |
F1642S |
probably damaging |
Het |
| Pglyrp2 |
A |
G |
17: 32,639,836 (GRCm39) |
M1T |
probably null |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Prdm10 |
C |
A |
9: 31,227,596 (GRCm39) |
T67K |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,754,852 (GRCm39) |
H1193Q |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,759,232 (GRCm39) |
S291P |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,784,290 (GRCm39) |
T150A |
probably damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,117,361 (GRCm39) |
Y170F |
probably benign |
Het |
| Sema4a |
C |
T |
3: 88,344,107 (GRCm39) |
V715I |
possibly damaging |
Het |
| Smgc |
G |
A |
15: 91,738,841 (GRCm39) |
A500T |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,584,148 (GRCm39) |
V1639A |
probably damaging |
Het |
| Srrm4 |
A |
G |
5: 116,620,437 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
G |
A |
16: 57,009,636 (GRCm39) |
H418Y |
probably damaging |
Het |
| Tbk1 |
A |
G |
10: 121,420,159 (GRCm39) |
L10P |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,042,621 (GRCm39) |
|
probably null |
Het |
| Trp53bp1 |
G |
T |
2: 121,035,424 (GRCm39) |
T1609K |
probably damaging |
Het |
| Tut1 |
A |
G |
19: 8,932,919 (GRCm39) |
N84S |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,593,287 (GRCm39) |
G282R |
probably damaging |
Het |
| Usp19 |
A |
T |
9: 108,376,910 (GRCm39) |
D1160V |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,933 (GRCm39) |
V1872A |
probably damaging |
Het |
| Zfp276 |
C |
A |
8: 123,986,242 (GRCm39) |
Y386* |
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 |
|
|
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 |
|
R3552:Megf11
|
UTSW |
9 |
64,602,745 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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'- GCAATCCTGCAATCGGCTTCAC -3'
(R):5'- TTCACTGCTAGTGTCACATGACAGC -3'
Sequencing Primer
(F):5'- TAGGGAAGTCTCTCAGCCTC -3'
(R):5'- TGACAGCTTATGACTATAAACAGGG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation