Incidental Mutation 'R4746:Megf11'
| ID |
356739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Megf11
|
| Ensembl Gene |
ENSMUSG00000036466 |
| Gene Name |
multiple EGF-like-domains 11 |
| Synonyms |
2410080H04Rik |
| MMRRC Submission |
041968-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R4746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64292908-64616487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 64416027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 79
(T79P)
|
| 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: T79P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: T79P
| 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: T79P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: T79P
| 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: T79P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
AA Change: T79P
| 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: ENSMUST00000148449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148963
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164113
AA Change: T79P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: T79P
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
G |
A |
2: 152,282,685 (GRCm39) |
S180N |
probably benign |
Het |
| Atp5f1a |
G |
T |
18: 77,866,442 (GRCm39) |
G165V |
probably benign |
Het |
| Cbfa2t2 |
A |
C |
2: 154,365,845 (GRCm39) |
M352L |
possibly damaging |
Het |
| Ccser2 |
A |
T |
14: 36,631,082 (GRCm39) |
D98E |
probably damaging |
Het |
| Cfap20 |
A |
G |
8: 96,148,684 (GRCm39) |
|
probably null |
Het |
| Chuk |
A |
T |
19: 44,077,210 (GRCm39) |
C379S |
possibly damaging |
Het |
| Cic |
G |
A |
7: 24,987,905 (GRCm39) |
G1531E |
probably damaging |
Het |
| Ckap4 |
A |
G |
10: 84,369,384 (GRCm39) |
V116A |
possibly damaging |
Het |
| Cxcl13 |
A |
G |
5: 96,107,756 (GRCm39) |
K71E |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,359,080 (GRCm39) |
I210N |
probably benign |
Het |
| Donson |
A |
C |
16: 91,479,125 (GRCm39) |
V397G |
probably damaging |
Het |
| Dpy19l1 |
C |
A |
9: 24,361,966 (GRCm39) |
V332L |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,379,080 (GRCm39) |
S1343P |
possibly damaging |
Het |
| Egflam |
A |
G |
15: 7,254,120 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
A |
G |
5: 31,344,997 (GRCm39) |
I550T |
probably damaging |
Het |
| Fbxo47 |
A |
T |
11: 97,770,254 (GRCm39) |
V46D |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Folr1 |
T |
A |
7: 101,513,184 (GRCm39) |
D37V |
probably damaging |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
C |
A |
4: 155,627,531 (GRCm39) |
A104E |
probably damaging |
Het |
| Gnptg |
ATTGTTGATGATTT |
AT |
17: 25,454,571 (GRCm39) |
|
probably benign |
Het |
| Htra4 |
A |
T |
8: 25,523,713 (GRCm39) |
V284E |
probably damaging |
Het |
| Igkv3-3 |
A |
T |
6: 70,664,308 (GRCm39) |
D50V |
probably benign |
Het |
| Irs3 |
A |
G |
5: 137,642,209 (GRCm39) |
S410P |
probably benign |
Het |
| Kif26b |
C |
T |
1: 178,701,546 (GRCm39) |
Q642* |
probably null |
Het |
| Klhl11 |
A |
T |
11: 100,355,176 (GRCm39) |
M215K |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,795,626 (GRCm39) |
N337S |
possibly damaging |
Het |
| Lrrc55 |
G |
A |
2: 85,026,514 (GRCm39) |
A170V |
probably damaging |
Het |
| Marchf3 |
A |
T |
18: 56,909,144 (GRCm39) |
W214R |
probably damaging |
Het |
| Mia3 |
A |
G |
1: 183,126,663 (GRCm39) |
V26A |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,195,955 (GRCm39) |
F353S |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,970,634 (GRCm39) |
|
probably null |
Het |
| Ocstamp |
T |
C |
2: 165,238,208 (GRCm39) |
K352R |
probably benign |
Het |
| Or2t35 |
A |
T |
14: 14,407,359 (GRCm38) |
I46F |
probably benign |
Het |
| Or8b12 |
G |
T |
9: 37,657,453 (GRCm39) |
V8L |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,305,654 (GRCm39) |
N434S |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,512,749 (GRCm39) |
L645V |
probably benign |
Het |
| Polr1has |
A |
T |
17: 37,275,765 (GRCm39) |
I116L |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,626,500 (GRCm39) |
S1540P |
probably benign |
Het |
| Ppp2r3c |
A |
T |
12: 55,349,420 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,082,236 (GRCm39) |
V414A |
possibly damaging |
Het |
| Pyroxd2 |
G |
A |
19: 42,740,839 (GRCm39) |
R22* |
probably null |
Het |
| Rab11fip2 |
G |
A |
19: 59,925,542 (GRCm39) |
A225V |
probably damaging |
Het |
| Ranbp2 |
C |
T |
10: 58,328,492 (GRCm39) |
A2836V |
probably damaging |
Het |
| Rimklb |
G |
A |
6: 122,449,591 (GRCm39) |
R28* |
probably null |
Het |
| Scyl3 |
G |
A |
1: 163,776,820 (GRCm39) |
R404Q |
probably damaging |
Het |
| Slc9a8 |
A |
T |
2: 167,283,090 (GRCm39) |
K79* |
probably null |
Het |
| Sowaha |
A |
T |
11: 53,370,163 (GRCm39) |
|
probably null |
Het |
| Tnk1 |
A |
G |
11: 69,745,992 (GRCm39) |
V311A |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,789,220 (GRCm39) |
S1680T |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,398,158 (GRCm39) |
Y335C |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,162,340 (GRCm39) |
V308A |
probably benign |
Het |
| Ttll3 |
A |
C |
6: 113,384,353 (GRCm39) |
Q557P |
probably damaging |
Het |
| Ulk3 |
G |
A |
9: 57,500,201 (GRCm39) |
A266T |
probably benign |
Het |
| Wfdc6b |
C |
A |
2: 164,459,353 (GRCm39) |
C138* |
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 |
|
|
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 |
|
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'- ATACATTCTGCACCACGGCG -3'
(R):5'- TAGAGTCCCTTCTAAGCACTGATAG -3'
Sequencing Primer
(F):5'- ATTGCGTTCTTTCATATTCGAAGCTG -3'
(R):5'- CCCCTACTTACGAATGCA -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation