Incidental Mutation 'IGL02341:Megf11'
ID |
289090 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Megf11
|
Ensembl Gene |
ENSMUSG00000036466 |
Gene Name |
multiple EGF-like-domains 11 |
Synonyms |
2410080H04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
IGL02341
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
64292908-64616487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 64451902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 109
(G109S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114035
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068967]
[ENSMUST00000093829]
[ENSMUST00000118485]
[ENSMUST00000164113]
|
AlphaFold |
Q80T91 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068967
AA Change: G109S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065353 Gene: ENSMUSG00000036466 AA Change: G109S
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 benign
Transcript: ENSMUST00000093829
|
SMART Domains |
Protein: ENSMUSP00000091349 Gene: ENSMUSG00000036466
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: G109S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114035 Gene: ENSMUSG00000036466 AA Change: G109S
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 |
possibly damaging
Transcript: ENSMUST00000164113
AA Change: G109S
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128672 Gene: ENSMUSG00000036466 AA Change: G109S
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
C |
T |
15: 96,270,066 (GRCm39) |
S1393L |
probably benign |
Het |
Bahcc1 |
T |
A |
11: 120,163,346 (GRCm39) |
I548N |
probably damaging |
Het |
Baiap3 |
A |
T |
17: 25,467,290 (GRCm39) |
L405Q |
possibly damaging |
Het |
Cacna1g |
T |
G |
11: 94,352,978 (GRCm39) |
Q349P |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,213,978 (GRCm39) |
T184A |
possibly damaging |
Het |
Ccdc63 |
A |
G |
5: 122,251,261 (GRCm39) |
I383T |
probably benign |
Het |
Ccnk |
A |
G |
12: 108,161,989 (GRCm39) |
E298G |
unknown |
Het |
Ccnt1 |
T |
C |
15: 98,444,664 (GRCm39) |
E223G |
possibly damaging |
Het |
Clcc1 |
T |
A |
3: 108,580,699 (GRCm39) |
L333I |
possibly damaging |
Het |
Cyp2b10 |
G |
A |
7: 25,610,667 (GRCm39) |
R59Q |
probably benign |
Het |
Cyp3a41b |
T |
A |
5: 145,510,461 (GRCm39) |
T138S |
probably benign |
Het |
Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
Dnah8 |
A |
T |
17: 30,966,231 (GRCm39) |
I2474F |
probably damaging |
Het |
Dok1 |
T |
C |
6: 83,010,035 (GRCm39) |
T25A |
probably damaging |
Het |
Ears2 |
G |
A |
7: 121,638,987 (GRCm39) |
A479V |
probably benign |
Het |
Erc1 |
T |
A |
6: 119,571,934 (GRCm39) |
I981F |
possibly damaging |
Het |
Gm8730 |
A |
G |
8: 103,591,775 (GRCm39) |
|
noncoding transcript |
Het |
Gm9962 |
C |
T |
7: 57,037,042 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
T |
8: 107,600,637 (GRCm39) |
Y33F |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,120,159 (GRCm39) |
S607P |
possibly damaging |
Het |
Hlcs |
T |
A |
16: 94,031,969 (GRCm39) |
I612F |
probably damaging |
Het |
Llgl2 |
T |
A |
11: 115,741,946 (GRCm39) |
S663T |
possibly damaging |
Het |
Lrriq1 |
T |
C |
10: 103,060,802 (GRCm39) |
H100R |
probably benign |
Het |
Lypd8l |
T |
C |
11: 58,503,656 (GRCm39) |
S17G |
possibly damaging |
Het |
Magi2 |
T |
A |
5: 20,671,201 (GRCm39) |
I678N |
probably damaging |
Het |
Morc2b |
A |
T |
17: 33,356,281 (GRCm39) |
I497K |
probably damaging |
Het |
Mybpc2 |
A |
C |
7: 44,164,354 (GRCm39) |
S404A |
probably benign |
Het |
Mylip |
A |
G |
13: 45,544,752 (GRCm39) |
R59G |
probably damaging |
Het |
Mylk3 |
A |
T |
8: 86,078,601 (GRCm39) |
I501N |
probably damaging |
Het |
Myo19 |
A |
G |
11: 84,778,871 (GRCm39) |
|
probably benign |
Het |
Nat2 |
A |
G |
8: 67,954,370 (GRCm39) |
Y160C |
possibly damaging |
Het |
Nf1 |
C |
T |
11: 79,455,752 (GRCm39) |
A2554V |
probably benign |
Het |
Niban3 |
A |
T |
8: 72,056,443 (GRCm39) |
N381I |
possibly damaging |
Het |
Ninl |
A |
T |
2: 150,786,525 (GRCm39) |
C153* |
probably null |
Het |
Nlrp5 |
C |
T |
7: 23,103,577 (GRCm39) |
R15C |
probably benign |
Het |
Nphp4 |
A |
T |
4: 152,639,926 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
A |
11: 59,026,651 (GRCm39) |
R184L |
probably benign |
Het |
Or6c202 |
T |
A |
10: 128,996,302 (GRCm39) |
I184F |
probably benign |
Het |
Or6c6c |
A |
T |
10: 129,541,358 (GRCm39) |
T204S |
probably damaging |
Het |
Or6c8 |
A |
T |
10: 128,915,330 (GRCm39) |
C167* |
probably null |
Het |
Phip |
A |
T |
9: 82,814,936 (GRCm39) |
V262D |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,154,360 (GRCm38) |
S694T |
probably benign |
Het |
Reck |
T |
A |
4: 43,925,160 (GRCm39) |
D466E |
probably damaging |
Het |
Rimbp2 |
G |
T |
5: 128,878,025 (GRCm39) |
Y213* |
probably null |
Het |
Scn2a |
C |
T |
2: 65,518,721 (GRCm39) |
T365M |
probably damaging |
Het |
Scpep1 |
T |
A |
11: 88,835,314 (GRCm39) |
T120S |
probably benign |
Het |
Sp7 |
T |
A |
15: 102,267,657 (GRCm39) |
T50S |
possibly damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,432,750 (GRCm39) |
R304G |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,695,257 (GRCm39) |
S67P |
probably damaging |
Het |
Tjp1 |
G |
A |
7: 64,962,382 (GRCm39) |
T1185I |
probably damaging |
Het |
Tspan2 |
T |
A |
3: 102,672,529 (GRCm39) |
I178N |
probably damaging |
Het |
Tusc2 |
T |
A |
9: 107,442,109 (GRCm39) |
*103R |
probably null |
Het |
Uggt1 |
A |
T |
1: 36,203,600 (GRCm39) |
*47R |
probably null |
Het |
Unc13c |
T |
A |
9: 73,840,492 (GRCm39) |
I120F |
possibly damaging |
Het |
Vcpip1 |
T |
A |
1: 9,795,175 (GRCm39) |
K1065N |
possibly damaging |
Het |
Zfp532 |
C |
A |
18: 65,757,849 (GRCm39) |
P594Q |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |