Incidental Mutation 'IGL01309:Megf11'
| ID |
73576 |
| 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 # |
IGL01309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
64292908-64616487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64588698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 532
(S532R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068967]
[ENSMUST00000093829]
[ENSMUST00000118485]
[ENSMUST00000164113]
|
| AlphaFold |
Q80T91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068967
AA Change: S532R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: S532R
| 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
AA Change: S501R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: S501R
| 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
AA Change: S532R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
AA Change: S532R
| 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 |
unknown
Transcript: ENSMUST00000124881
AA Change: S122R
|
| SMART Domains |
Protein: ENSMUSP00000120514
Gene: ENSMUSG00000036466
AA Change: S122R
| 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: ENSMUST00000144383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164113
AA Change: S532R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: S532R
| 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 |
|---|
| 2610318N02Rik |
A |
G |
16: 16,931,410 (GRCm39) |
V275A |
possibly damaging |
Het |
| Adamts2 |
A |
G |
11: 50,694,528 (GRCm39) |
D1105G |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,151,352 (GRCm39) |
M195L |
possibly damaging |
Het |
| Adrm1 |
A |
G |
2: 179,817,756 (GRCm39) |
|
probably benign |
Het |
| Atg13 |
T |
A |
2: 91,509,176 (GRCm39) |
I457F |
possibly damaging |
Het |
| BC034090 |
T |
C |
1: 155,102,130 (GRCm39) |
N45D |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,516,652 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
G |
A |
8: 85,249,657 (GRCm39) |
G221D |
probably damaging |
Het |
| Calr |
A |
G |
8: 85,573,335 (GRCm39) |
|
probably null |
Het |
| Chd3 |
C |
T |
11: 69,248,557 (GRCm39) |
V825I |
probably damaging |
Het |
| Chdh |
T |
G |
14: 29,757,761 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,400,529 (GRCm39) |
V627A |
probably damaging |
Het |
| Commd3 |
A |
G |
2: 18,677,289 (GRCm39) |
E5G |
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,265,773 (GRCm39) |
R199G |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,723,724 (GRCm39) |
|
probably benign |
Het |
| Dok7 |
G |
A |
5: 35,236,912 (GRCm39) |
G293D |
possibly damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,596 (GRCm39) |
V523A |
probably benign |
Het |
| Fam171b |
C |
T |
2: 83,709,791 (GRCm39) |
Q488* |
probably null |
Het |
| Gabbr1 |
G |
A |
17: 37,359,499 (GRCm39) |
|
probably null |
Het |
| Gm5965 |
T |
G |
16: 88,575,219 (GRCm39) |
S131A |
possibly damaging |
Het |
| Gpcpd1 |
T |
C |
2: 132,392,244 (GRCm39) |
D235G |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,767,207 (GRCm39) |
K111* |
probably null |
Het |
| Itih4 |
G |
T |
14: 30,613,706 (GRCm39) |
D308Y |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,314 (GRCm39) |
Y266H |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 115,953,663 (GRCm39) |
L783P |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,888,737 (GRCm39) |
D298G |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,849,423 (GRCm39) |
F712L |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,869,282 (GRCm39) |
|
probably benign |
Het |
| Mkx |
T |
C |
18: 6,937,192 (GRCm39) |
D284G |
probably benign |
Het |
| Mmp16 |
A |
G |
4: 18,116,185 (GRCm39) |
I596M |
probably damaging |
Het |
| Msto1 |
C |
A |
3: 88,820,993 (GRCm39) |
R34L |
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,764,254 (GRCm39) |
L491P |
probably damaging |
Het |
| Or4a66 |
T |
G |
2: 88,531,310 (GRCm39) |
Y121S |
probably damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,289 (GRCm39) |
I284L |
probably benign |
Het |
| Or9s13 |
T |
C |
1: 92,548,057 (GRCm39) |
M143T |
probably damaging |
Het |
| Otor |
T |
C |
2: 142,920,532 (GRCm39) |
V38A |
possibly damaging |
Het |
| Pcdhb12 |
G |
T |
18: 37,569,207 (GRCm39) |
D118Y |
probably damaging |
Het |
| Prelp |
T |
C |
1: 133,842,545 (GRCm39) |
H200R |
probably benign |
Het |
| Prmt5 |
T |
C |
14: 54,747,334 (GRCm39) |
Y481C |
probably damaging |
Het |
| Psg23 |
T |
G |
7: 18,348,465 (GRCm39) |
D114A |
probably damaging |
Het |
| Ptger4 |
A |
T |
15: 5,272,239 (GRCm39) |
Y127N |
probably damaging |
Het |
| Rabgap1l |
C |
A |
1: 160,528,368 (GRCm39) |
V385L |
probably benign |
Het |
| Rergl |
T |
A |
6: 139,470,256 (GRCm39) |
K191* |
probably null |
Het |
| Sart3 |
A |
G |
5: 113,897,311 (GRCm39) |
F252S |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,519,769 (GRCm39) |
S1169T |
probably benign |
Het |
| Serpinb8 |
C |
T |
1: 107,532,448 (GRCm39) |
T180M |
probably damaging |
Het |
| Sipa1l1 |
G |
A |
12: 82,434,470 (GRCm39) |
E747K |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,634,237 (GRCm39) |
D2158V |
probably benign |
Het |
| Sycp2 |
T |
G |
2: 177,999,904 (GRCm39) |
D1024A |
probably benign |
Het |
| Tbr1 |
T |
G |
2: 61,636,411 (GRCm39) |
N262K |
possibly damaging |
Het |
| Tnrc6a |
A |
T |
7: 122,770,717 (GRCm39) |
I836F |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,769,091 (GRCm39) |
E2823G |
probably damaging |
Het |
| Uqcrc1 |
T |
A |
9: 108,778,026 (GRCm39) |
L441Q |
possibly damaging |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,424 (GRCm39) |
F196L |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,787,997 (GRCm39) |
I451M |
possibly damaging |
Het |
| Zcchc7 |
A |
T |
4: 44,926,060 (GRCm39) |
H353L |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation