Incidental Mutation 'R5960:Megf11'
| ID |
471414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Megf11
|
| Ensembl Gene |
ENSMUSG00000036466 |
| Gene Name |
multiple EGF-like-domains 11 |
| Synonyms |
2410080H04Rik |
| MMRRC Submission |
044147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R5960 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
64292908-64616487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64567731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 407
(T407A)
|
| 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: T407A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: T407A
| 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: T376A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: T376A
| 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: T407A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
AA Change: T407A
| 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 |
probably benign
Transcript: ENSMUST00000164113
AA Change: T407A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: T407A
| 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 |
|
| Meta Mutation Damage Score |
0.0773 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
| Validation Efficiency |
99% (71/72) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,528 (GRCm39) |
T30A |
possibly damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,233 (GRCm39) |
M197V |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,115,489 (GRCm39) |
T210A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,648,178 (GRCm39) |
S886R |
possibly damaging |
Het |
| Aopep |
G |
A |
13: 63,388,087 (GRCm39) |
R22Q |
probably damaging |
Het |
| Atg2a |
T |
G |
19: 6,304,390 (GRCm39) |
F1136V |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,835,760 (GRCm39) |
T72S |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,717,869 (GRCm39) |
T219A |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,884,208 (GRCm39) |
|
probably benign |
Het |
| Cdh12 |
A |
G |
15: 21,492,562 (GRCm39) |
|
probably null |
Het |
| Cfap126 |
A |
G |
1: 170,952,882 (GRCm39) |
D45G |
probably damaging |
Het |
| Ciz1 |
C |
A |
2: 32,261,228 (GRCm39) |
Q356K |
possibly damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,194,058 (GRCm39) |
I407N |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,121,430 (GRCm39) |
E1756K |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,411,404 (GRCm39) |
K94E |
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,023,193 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,465,807 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,788,554 (GRCm39) |
G138* |
probably null |
Het |
| Fam20a |
G |
A |
11: 109,566,795 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
G |
7: 79,093,510 (GRCm39) |
T1006A |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,405 (GRCm39) |
Y3320H |
probably damaging |
Het |
| Fndc8 |
A |
G |
11: 82,788,398 (GRCm39) |
D76G |
probably benign |
Het |
| Gm19965 |
T |
C |
1: 116,749,201 (GRCm39) |
I294T |
possibly damaging |
Het |
| Gm9755 |
T |
G |
8: 67,967,840 (GRCm39) |
|
noncoding transcript |
Het |
| Iars1 |
T |
C |
13: 49,878,113 (GRCm39) |
V879A |
possibly damaging |
Het |
| Ifi209 |
A |
T |
1: 173,466,382 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
T |
C |
16: 96,227,459 (GRCm39) |
H528R |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,970,281 (GRCm39) |
Q146R |
probably damaging |
Het |
| Mtg1 |
T |
C |
7: 139,726,906 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,402,724 (GRCm39) |
S1317A |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,115,865 (GRCm39) |
V933A |
probably damaging |
Het |
| Nudt16 |
A |
T |
9: 105,008,698 (GRCm39) |
C63S |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,625,915 (GRCm39) |
I49V |
probably null |
Het |
| Or51a24 |
G |
T |
7: 103,733,560 (GRCm39) |
N242K |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,069 (GRCm39) |
S267T |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,495 (GRCm39) |
S671P |
possibly damaging |
Het |
| Paox |
A |
G |
7: 139,712,402 (GRCm39) |
D211G |
probably benign |
Het |
| Pck2 |
A |
G |
14: 55,786,004 (GRCm39) |
T571A |
possibly damaging |
Het |
| Pigg |
A |
G |
5: 108,484,160 (GRCm39) |
E469G |
probably benign |
Het |
| Pikfyve |
C |
A |
1: 65,292,597 (GRCm39) |
Y1349* |
probably null |
Het |
| Prickle2 |
A |
G |
6: 92,353,286 (GRCm39) |
F783L |
probably benign |
Het |
| Prpf40b |
G |
T |
15: 99,212,785 (GRCm39) |
R627L |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,903,437 (GRCm39) |
I1217V |
possibly damaging |
Het |
| Rbm26 |
A |
T |
14: 105,387,751 (GRCm39) |
V457D |
probably damaging |
Het |
| Rex1bd |
C |
A |
8: 70,959,156 (GRCm39) |
R49L |
probably null |
Het |
| Robo2 |
A |
T |
16: 73,730,603 (GRCm39) |
L1003Q |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,446,144 (GRCm39) |
D2730G |
probably benign |
Het |
| Setd6 |
T |
A |
8: 96,442,827 (GRCm39) |
L88H |
probably damaging |
Het |
| Smim35 |
T |
C |
9: 45,154,288 (GRCm39) |
Y50H |
probably damaging |
Het |
| Sncb |
A |
G |
13: 54,910,795 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,225 (GRCm39) |
H985L |
probably benign |
Het |
| Spmap2 |
T |
G |
10: 79,421,765 (GRCm39) |
K151T |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,530,442 (GRCm39) |
E2233G |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,475,770 (GRCm39) |
V410I |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,494 (GRCm39) |
S281P |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,100,598 (GRCm39) |
R330C |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,488,915 (GRCm39) |
D741V |
probably benign |
Het |
| Tph1 |
A |
G |
7: 46,311,429 (GRCm39) |
|
probably null |
Het |
| Trav7-5 |
T |
A |
14: 53,768,706 (GRCm39) |
H91Q |
probably benign |
Het |
| Tymp |
A |
T |
15: 89,260,778 (GRCm39) |
|
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
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 |
|
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'- GCTCTTACTACTGTGGGCAAAG -3'
(R):5'- TCTTCAAGGGTTCTCAGTCACAG -3'
Sequencing Primer
(F):5'- TCTTACTACTGTGGGCAAAGGAAGG -3'
(R):5'- AGGGTTCTCAGTCACAGACTATGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation