Incidental Mutation 'V5622:Megf11'
ID |
166134 |
Institutional Source |
Beutler Lab
|
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 # |
V5622 ()
of strain
521
|
Quality Score |
221 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
64292908-64616487 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 64597351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 674
(C674*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068967]
[ENSMUST00000093829]
[ENSMUST00000118485]
[ENSMUST00000164113]
|
AlphaFold |
Q80T91 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068967
AA Change: C674*
|
SMART Domains |
Protein: ENSMUSP00000065353 Gene: ENSMUSG00000036466 AA Change: C674*
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 null
Transcript: ENSMUST00000093829
AA Change: C643*
|
SMART Domains |
Protein: ENSMUSP00000091349 Gene: ENSMUSG00000036466 AA Change: C643*
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 null
Transcript: ENSMUST00000118485
AA Change: C674*
|
SMART Domains |
Protein: ENSMUSP00000114035 Gene: ENSMUSG00000036466 AA Change: C674*
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: ENSMUST00000144383
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153934
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164113
AA Change: C674*
|
SMART Domains |
Protein: ENSMUSP00000128672 Gene: ENSMUSG00000036466 AA Change: C674*
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 |
- 1x: 94.1%
- 3x: 94.1%
- 10x: 94.0%
- 20x: 93.9%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
C |
T |
4: 148,026,233 (GRCm39) |
S251F |
probably benign |
Het |
Ccar2 |
G |
T |
14: 70,388,738 (GRCm39) |
L158I |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Gm10719 |
A |
G |
9: 3,021,253 (GRCm39) |
|
probably null |
Het |
Gm10720 |
A |
C |
9: 3,015,669 (GRCm39) |
N6H |
probably benign |
Het |
Gm21738 |
C |
T |
14: 19,417,180 (GRCm38) |
C116Y |
probably damaging |
Het |
Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
Hjurp |
A |
G |
1: 88,205,247 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
A |
4: 137,261,049 (GRCm39) |
Q1648K |
probably damaging |
Het |
Hvcn1 |
TGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAG |
5: 122,371,602 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
C |
T |
1: 88,154,813 (GRCm39) |
|
probably benign |
Het |
Muc4 |
T |
C |
16: 32,570,643 (GRCm39) |
S568P |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
Npm1 |
C |
T |
11: 33,111,186 (GRCm39) |
V60I |
probably benign |
Het |
Ppp2r5a |
G |
A |
1: 191,091,189 (GRCm39) |
R213W |
probably damaging |
Het |
Ppp2r5a |
C |
T |
1: 191,091,198 (GRCm39) |
V210I |
probably benign |
Het |
Trim43b |
T |
C |
9: 88,974,598 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
T |
C |
17: 23,565,201 (GRCm39) |
S363P |
probably damaging |
Het |
Vmn2r115 |
T |
C |
17: 23,578,333 (GRCm39) |
I602T |
probably benign |
Het |
Vmn2r117 |
C |
T |
17: 23,696,814 (GRCm39) |
A198T |
probably damaging |
Het |
Vmn2r117 |
C |
G |
17: 23,698,479 (GRCm39) |
Q31H |
possibly damaging |
Het |
Vmn2r88 |
C |
G |
14: 51,650,584 (GRCm39) |
T99S |
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Zbtb12 |
C |
A |
17: 35,115,277 (GRCm39) |
A354E |
possibly damaging |
Het |
Zfp180 |
A |
G |
7: 23,781,456 (GRCm39) |
|
probably benign |
Het |
Zfp268 |
C |
T |
4: 145,311,891 (GRCm39) |
|
probably benign |
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 |
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 |
|
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 |
|
Posted On |
2014-04-07 |