Incidental Mutation 'R8799:Megf11'
| ID |
671444 |
| 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 # |
R8799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
64292908-64616487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64588673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 493
(D493G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068967]
[ENSMUST00000093829]
[ENSMUST00000118485]
[ENSMUST00000164113]
|
| AlphaFold |
Q80T91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068967
AA Change: D524G
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: D524G
| 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: D493G
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: D493G
| 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: D524G
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
AA Change: D524G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000120514
Gene: ENSMUSG00000036466
AA Change: D114G
| 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 |
probably benign
Transcript: ENSMUST00000164113
AA Change: D524G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: D524G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (57/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
T |
A |
11: 83,331,578 (GRCm39) |
C134S |
probably damaging |
Het |
| Acox3 |
T |
G |
5: 35,747,052 (GRCm39) |
F156L |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,272,474 (GRCm39) |
E1428G |
probably benign |
Het |
| Arhgap40 |
A |
T |
2: 158,354,758 (GRCm39) |
M15L |
probably benign |
Het |
| Bahcc1 |
C |
A |
11: 120,177,173 (GRCm39) |
F2020L |
probably damaging |
Het |
| BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
| Ccdc40 |
C |
A |
11: 119,155,292 (GRCm39) |
S1177R |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,201,355 (GRCm39) |
R294S |
probably benign |
Het |
| Cib1 |
A |
C |
7: 79,882,291 (GRCm39) |
S6R |
probably damaging |
Het |
| Csnk2a1 |
A |
G |
2: 152,099,886 (GRCm39) |
E114G |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,354,128 (GRCm39) |
|
probably benign |
Het |
| Decr2 |
A |
C |
17: 26,307,911 (GRCm39) |
I47M |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,327,027 (GRCm39) |
|
probably null |
Het |
| Dse |
G |
A |
10: 34,060,149 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,708,981 (GRCm39) |
V1480A |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,805,755 (GRCm39) |
I165M |
probably benign |
Het |
| Fan1 |
G |
T |
7: 64,016,406 (GRCm39) |
Q573K |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,793,955 (GRCm39) |
T906I |
probably benign |
Het |
| Gm21915 |
A |
C |
9: 40,582,006 (GRCm39) |
H33P |
possibly damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Lama3 |
G |
T |
18: 12,624,000 (GRCm39) |
Q1384H |
probably damaging |
Het |
| Lrrc34 |
C |
T |
3: 30,678,979 (GRCm39) |
E373K |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,178,785 (GRCm39) |
F677L |
probably damaging |
Het |
| Mta3 |
A |
T |
17: 84,096,369 (GRCm39) |
I348F |
possibly damaging |
Het |
| Myo1d |
A |
T |
11: 80,575,205 (GRCm39) |
F170L |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,539,083 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
A |
T |
4: 41,023,727 (GRCm39) |
E1045D |
probably damaging |
Het |
| Npffr2 |
T |
G |
5: 89,731,177 (GRCm39) |
V369G |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,061,854 (GRCm39) |
C95R |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,011,985 (GRCm39) |
M267K |
possibly damaging |
Het |
| Or4f59 |
A |
T |
2: 111,872,528 (GRCm39) |
I283N |
probably damaging |
Het |
| Or5t18 |
A |
T |
2: 86,636,575 (GRCm39) |
M256K |
probably damaging |
Het |
| Or5w13 |
G |
T |
2: 87,524,057 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Otoa |
G |
A |
7: 120,691,894 (GRCm39) |
E41K |
possibly damaging |
Het |
| Podxl |
A |
G |
6: 31,501,400 (GRCm39) |
V385A |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,567,623 (GRCm39) |
T673M |
possibly damaging |
Het |
| Rbm20 |
G |
T |
19: 53,821,120 (GRCm39) |
C525F |
probably damaging |
Het |
| Rnf17 |
A |
T |
14: 56,737,886 (GRCm39) |
E1222D |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 51,922,143 (GRCm39) |
A2331V |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,615,819 (GRCm39) |
I24N |
probably damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,850 (GRCm39) |
V29A |
possibly damaging |
Het |
| Shisa3 |
T |
A |
5: 67,768,749 (GRCm39) |
Y216* |
probably null |
Het |
| Slc22a2 |
A |
T |
17: 12,831,425 (GRCm39) |
Y405F |
probably benign |
Het |
| Slc2a12 |
A |
T |
10: 22,568,105 (GRCm39) |
M511L |
possibly damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,840,136 (GRCm39) |
H338Q |
probably damaging |
Het |
| Slco1c1 |
T |
G |
6: 141,505,531 (GRCm39) |
S486A |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,461,524 (GRCm39) |
S1524P |
possibly damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,184,140 (GRCm39) |
S561P |
possibly damaging |
Het |
| Stac3 |
T |
A |
10: 127,340,781 (GRCm39) |
M182K |
probably damaging |
Het |
| Stt3b |
T |
C |
9: 115,077,685 (GRCm39) |
E689G |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,248,091 (GRCm39) |
K271E |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,116,708 (GRCm39) |
Y309H |
probably benign |
Het |
| Tbc1d5 |
TGC |
TGCCGC |
17: 51,106,969 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
TG |
TGCGG |
17: 51,106,978 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
17: 51,106,962 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
TGC |
TGCGGC |
17: 51,106,963 (GRCm39) |
|
probably benign |
Het |
| Tmem101 |
A |
G |
11: 102,044,336 (GRCm39) |
F184L |
probably benign |
Het |
| Zfp474 |
A |
G |
18: 52,772,166 (GRCm39) |
Q273R |
probably benign |
Het |
| Zfyve28 |
A |
G |
5: 34,390,670 (GRCm39) |
L197P |
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 |
|
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 |
|
|
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'- TTCCTATTAATACGGCCAGGTGG -3'
(R):5'- TCACCAGACTGAATGGGAGC -3'
Sequencing Primer
(F):5'- ATACGGCCAGGTGGTTGTTATGAC -3'
(R):5'- TGCCATTTGGGAGCAGAAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation