Incidental Mutation 'R2127:Megf8'
| ID |
227615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Megf8
|
| Ensembl Gene |
ENSMUSG00000045039 |
| Gene Name |
multiple EGF-like-domains 8 |
| Synonyms |
m687Ddg, b2b1702Clo, Egfl4, b2b288Clo |
| MMRRC Submission |
040130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R2127 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25016589-25065342 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25064007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2788
(S2788P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076276]
[ENSMUST00000128119]
[ENSMUST00000167591]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076276
|
| SMART Domains |
Protein: ENSMUSP00000075625
Gene: ENSMUSG00000063651
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PLAC8
|
23 |
107 |
2.1e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128119
AA Change: S2788P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
AA Change: S2788P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
CUB
|
33 |
140 |
1.24e-15 |
SMART |
|
EGF
|
141 |
170 |
4.26e0 |
SMART |
|
EGF
|
173 |
203 |
2.43e1 |
SMART |
|
Pfam:Kelch_4
|
227 |
277 |
1.3e-11 |
PFAM |
|
Pfam:Kelch_3
|
240 |
287 |
1.6e-7 |
PFAM |
|
low complexity region
|
320 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
738 |
N/A |
INTRINSIC |
|
PSI
|
847 |
899 |
1.37e0 |
SMART |
|
low complexity region
|
932 |
938 |
N/A |
INTRINSIC |
|
PSI
|
949 |
991 |
2.11e-2 |
SMART |
|
PSI
|
1005 |
1073 |
7.82e-1 |
SMART |
|
EGF_CA
|
1074 |
1115 |
2.62e-9 |
SMART |
|
EGF
|
1117 |
1160 |
5.4e-2 |
SMART |
|
EGF_like
|
1163 |
1208 |
4e-1 |
SMART |
|
EGF_Lam
|
1211 |
1259 |
1.03e-7 |
SMART |
|
Blast:CUB
|
1263 |
1401 |
1e-30 |
BLAST |
|
EGF_like
|
1406 |
1445 |
3.29e1 |
SMART |
|
Pfam:Kelch_4
|
1509 |
1564 |
6.5e-12 |
PFAM |
|
Pfam:Kelch_3
|
1520 |
1574 |
1.2e-10 |
PFAM |
|
PSI
|
1868 |
1923 |
2.75e-1 |
SMART |
|
PSI
|
2004 |
2062 |
1.6e0 |
SMART |
|
PSI
|
2064 |
2121 |
1.68e-5 |
SMART |
|
EGF
|
2125 |
2164 |
1.08e-1 |
SMART |
|
EGF
|
2166 |
2194 |
4.26e0 |
SMART |
|
EGF
|
2204 |
2244 |
2.2e1 |
SMART |
|
EGF_like
|
2248 |
2321 |
6.37e-1 |
SMART |
|
low complexity region
|
2493 |
2504 |
N/A |
INTRINSIC |
|
low complexity region
|
2530 |
2541 |
N/A |
INTRINSIC |
|
transmembrane domain
|
2592 |
2614 |
N/A |
INTRINSIC |
|
low complexity region
|
2649 |
2668 |
N/A |
INTRINSIC |
|
low complexity region
|
2674 |
2702 |
N/A |
INTRINSIC |
|
low complexity region
|
2759 |
2774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153077
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167591
|
| SMART Domains |
Protein: ENSMUSP00000130957
Gene: ENSMUSG00000063651
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PLAC8
|
36 |
119 |
1.9e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.0624 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (93/95) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for an ENU mutation exhibit varying degrees of heterotaxia and congenital heart defects. Mice homozygous for another ENU-induced mutation exhibit abnormal development and patterning of the peripheral nervous system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,752 (GRCm39) |
S300T |
possibly damaging |
Het |
| A2ml1 |
A |
C |
6: 128,535,400 (GRCm39) |
V770G |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,475 (GRCm39) |
I558T |
probably benign |
Het |
| Abhd17c |
C |
A |
7: 83,759,870 (GRCm39) |
G295W |
probably damaging |
Het |
| Actn3 |
G |
A |
19: 4,921,703 (GRCm39) |
A159V |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,705,199 (GRCm39) |
F1537Y |
probably damaging |
Het |
| Agbl1 |
G |
T |
7: 76,069,628 (GRCm39) |
V373F |
possibly damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,620,279 (GRCm39) |
E485D |
probably benign |
Het |
| Amdhd2 |
A |
G |
17: 24,377,282 (GRCm39) |
|
probably null |
Het |
| Armc3 |
A |
G |
2: 19,206,622 (GRCm39) |
D15G |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,737,611 (GRCm39) |
L921P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,386,038 (GRCm39) |
N88S |
probably benign |
Het |
| Capn10 |
T |
A |
1: 92,865,756 (GRCm39) |
C77* |
probably null |
Het |
| Caskin1 |
T |
C |
17: 24,715,970 (GRCm39) |
|
probably null |
Het |
| Catsper4 |
T |
C |
4: 133,941,117 (GRCm39) |
D254G |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,465 (GRCm39) |
D958G |
probably damaging |
Het |
| Ccar2 |
T |
G |
14: 70,377,100 (GRCm39) |
K787Q |
probably benign |
Het |
| Ccdc191 |
C |
T |
16: 43,728,998 (GRCm39) |
T244I |
probably benign |
Het |
| Cd33 |
A |
T |
7: 43,179,699 (GRCm39) |
L243Q |
possibly damaging |
Het |
| Cdc37 |
T |
C |
9: 21,061,143 (GRCm39) |
Y4C |
probably damaging |
Het |
| Cenpe |
T |
G |
3: 134,945,541 (GRCm39) |
N1018K |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,744,407 (GRCm39) |
R1830C |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,967,392 (GRCm39) |
D3157G |
probably damaging |
Het |
| Dhx57 |
C |
T |
17: 80,580,477 (GRCm39) |
V492M |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,011 (GRCm39) |
I2486N |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,342,928 (GRCm39) |
T1424I |
possibly damaging |
Het |
| Dsc3 |
C |
T |
18: 20,101,411 (GRCm39) |
A661T |
probably benign |
Het |
| F930015N05Rik |
A |
G |
11: 64,326,229 (GRCm39) |
|
probably benign |
Het |
| Fbxo34 |
C |
A |
14: 47,767,563 (GRCm39) |
R308S |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
A |
T |
11: 99,663,327 (GRCm39) |
C118S |
unknown |
Het |
| Gm9742 |
A |
T |
13: 8,085,011 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
G |
A |
2: 180,900,842 (GRCm39) |
A185V |
probably benign |
Het |
| Gpr15 |
A |
G |
16: 58,538,618 (GRCm39) |
V157A |
possibly damaging |
Het |
| Gpr3 |
C |
T |
4: 132,937,932 (GRCm39) |
A247T |
probably damaging |
Het |
| Grin2b |
A |
C |
6: 135,755,698 (GRCm39) |
S539A |
probably benign |
Het |
| Hmbs |
T |
C |
9: 44,252,004 (GRCm39) |
T92A |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,406,000 (GRCm39) |
M173V |
probably benign |
Het |
| Irx4 |
T |
A |
13: 73,413,595 (GRCm39) |
S22T |
probably benign |
Het |
| Jph3 |
C |
T |
8: 122,511,881 (GRCm39) |
A623V |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
| Ksr1 |
G |
A |
11: 78,924,139 (GRCm39) |
S361L |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,809,847 (GRCm39) |
Y506D |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,972,941 (GRCm39) |
D648G |
probably damaging |
Het |
| Mfsd2b |
T |
A |
12: 4,917,659 (GRCm39) |
Y129F |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,195,250 (GRCm39) |
S155P |
probably benign |
Het |
| Mospd4 |
A |
G |
18: 46,598,731 (GRCm39) |
|
noncoding transcript |
Het |
| Myo18b |
A |
T |
5: 112,978,944 (GRCm39) |
L1223Q |
probably damaging |
Het |
| Nckipsd |
A |
G |
9: 108,688,932 (GRCm39) |
T156A |
probably benign |
Het |
| Ndst1 |
G |
A |
18: 60,824,280 (GRCm39) |
T799I |
probably benign |
Het |
| Npffr2 |
A |
T |
5: 89,715,924 (GRCm39) |
I84F |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,885,442 (GRCm39) |
V167M |
probably damaging |
Het |
| Nup107 |
C |
A |
10: 117,610,380 (GRCm39) |
R354L |
possibly damaging |
Het |
| Olfml2a |
T |
C |
2: 38,831,699 (GRCm39) |
C93R |
probably damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,685 (GRCm39) |
I174V |
probably benign |
Het |
| Or1e25 |
C |
G |
11: 73,493,631 (GRCm39) |
S75C |
possibly damaging |
Het |
| Or5l14 |
A |
T |
2: 87,793,176 (GRCm39) |
V20D |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,215,494 (GRCm39) |
L1134M |
probably damaging |
Het |
| Plscr4 |
T |
G |
9: 92,370,683 (GRCm39) |
F217V |
possibly damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,354,840 (GRCm39) |
Y667N |
probably benign |
Het |
| Polg |
A |
G |
7: 79,114,676 (GRCm39) |
L95P |
probably damaging |
Het |
| Psg20 |
T |
G |
7: 18,416,643 (GRCm39) |
I158L |
probably damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,145 (GRCm39) |
S437G |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,981,032 (GRCm39) |
M305V |
possibly damaging |
Het |
| Rinl |
A |
G |
7: 28,496,168 (GRCm39) |
E383G |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,299,290 (GRCm39) |
M888V |
probably benign |
Het |
| Rps12 |
A |
T |
10: 23,662,776 (GRCm39) |
I22K |
possibly damaging |
Het |
| Rtca |
C |
A |
3: 116,291,323 (GRCm39) |
R219L |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,727,081 (GRCm39) |
P2427S |
probably damaging |
Het |
| Slc10a6 |
A |
G |
5: 103,756,922 (GRCm39) |
Y281H |
probably benign |
Het |
| Slc39a11 |
A |
G |
11: 113,260,629 (GRCm39) |
S176P |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,921,168 (GRCm39) |
|
noncoding transcript |
Het |
| Spef2 |
T |
C |
15: 9,729,747 (GRCm39) |
T124A |
possibly damaging |
Het |
| Sult2a4 |
G |
T |
7: 13,649,185 (GRCm39) |
P207Q |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tcstv1a |
T |
C |
13: 120,355,282 (GRCm39) |
T117A |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,760,600 (GRCm39) |
V208A |
probably damaging |
Het |
| Tmbim4 |
T |
A |
10: 120,060,658 (GRCm39) |
I215N |
probably damaging |
Het |
| Tmem202 |
T |
A |
9: 59,427,483 (GRCm39) |
I122F |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,942,234 (GRCm39) |
S4P |
unknown |
Het |
| Tpcn2 |
A |
G |
7: 144,827,712 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,345,404 (GRCm39) |
F10I |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,249,224 (GRCm39) |
E176G |
probably damaging |
Het |
| Usp8 |
T |
G |
2: 126,579,495 (GRCm39) |
|
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,533 (GRCm39) |
Y81F |
probably benign |
Het |
| Vps36 |
G |
T |
8: 22,708,305 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
T |
C |
7: 29,236,565 (GRCm39) |
|
noncoding transcript |
Het |
| Wnt3 |
A |
G |
11: 103,703,474 (GRCm39) |
H319R |
possibly damaging |
Het |
| Zfp319 |
A |
T |
8: 96,050,391 (GRCm39) |
|
probably benign |
Het |
| Zfp408 |
T |
C |
2: 91,475,519 (GRCm39) |
E545G |
probably damaging |
Het |
| Zfp799 |
C |
T |
17: 33,038,472 (GRCm39) |
R598Q |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,489,917 (GRCm39) |
V1228A |
probably benign |
Het |
| Zfp938 |
T |
C |
10: 82,061,876 (GRCm39) |
D248G |
probably benign |
Het |
|
| Other mutations in Megf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00639:Megf8
|
APN |
7 |
25,043,109 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL00696:Megf8
|
APN |
7 |
25,041,817 (GRCm39) |
missense |
probably benign |
|
|
IGL01021:Megf8
|
APN |
7 |
25,037,799 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01290:Megf8
|
APN |
7 |
25,049,083 (GRCm39) |
nonsense |
probably null |
|
|
IGL01392:Megf8
|
APN |
7 |
25,063,174 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01410:Megf8
|
APN |
7 |
25,059,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01634:Megf8
|
APN |
7 |
25,058,206 (GRCm39) |
splice site |
probably benign |
|
|
IGL01648:Megf8
|
APN |
7 |
25,026,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01930:Megf8
|
APN |
7 |
25,034,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Megf8
|
APN |
7 |
25,048,439 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02150:Megf8
|
APN |
7 |
25,045,842 (GRCm39) |
splice site |
probably null |
|
|
IGL02192:Megf8
|
APN |
7 |
25,053,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02250:Megf8
|
APN |
7 |
25,042,000 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02301:Megf8
|
APN |
7 |
25,037,325 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02317:Megf8
|
APN |
7 |
25,063,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02324:Megf8
|
APN |
7 |
25,039,873 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02503:Megf8
|
APN |
7 |
25,062,988 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02583:Megf8
|
APN |
7 |
25,055,218 (GRCm39) |
missense |
probably benign |
|
|
IGL02636:Megf8
|
APN |
7 |
25,057,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02704:Megf8
|
APN |
7 |
25,059,207 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02898:Megf8
|
APN |
7 |
25,045,933 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03082:Megf8
|
APN |
7 |
25,029,661 (GRCm39) |
missense |
probably benign |
|
|
IGL03182:Megf8
|
APN |
7 |
25,046,773 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
megatherium
|
UTSW |
7 |
25,041,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4810001:Megf8
|
UTSW |
7 |
25,041,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Megf8
|
UTSW |
7 |
25,053,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0217:Megf8
|
UTSW |
7 |
25,063,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0514:Megf8
|
UTSW |
7 |
25,063,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0561:Megf8
|
UTSW |
7 |
25,028,257 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0563:Megf8
|
UTSW |
7 |
25,041,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Megf8
|
UTSW |
7 |
25,027,965 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0879:Megf8
|
UTSW |
7 |
25,037,896 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1323:Megf8
|
UTSW |
7 |
25,059,527 (GRCm39) |
splice site |
probably null |
|
|
R1323:Megf8
|
UTSW |
7 |
25,059,527 (GRCm39) |
splice site |
probably null |
|
|
R1430:Megf8
|
UTSW |
7 |
25,063,768 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1445:Megf8
|
UTSW |
7 |
25,042,081 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1533:Megf8
|
UTSW |
7 |
25,034,280 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1606:Megf8
|
UTSW |
7 |
25,058,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Megf8
|
UTSW |
7 |
25,046,172 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1654:Megf8
|
UTSW |
7 |
25,037,911 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1661:Megf8
|
UTSW |
7 |
25,063,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Megf8
|
UTSW |
7 |
25,034,285 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1962:Megf8
|
UTSW |
7 |
25,062,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Megf8
|
UTSW |
7 |
25,053,163 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2129:Megf8
|
UTSW |
7 |
25,030,140 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2199:Megf8
|
UTSW |
7 |
25,039,039 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2201:Megf8
|
UTSW |
7 |
25,040,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Megf8
|
UTSW |
7 |
25,041,173 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2207:Megf8
|
UTSW |
7 |
25,049,222 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2361:Megf8
|
UTSW |
7 |
25,048,379 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2680:Megf8
|
UTSW |
7 |
25,016,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3084:Megf8
|
UTSW |
7 |
25,048,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3085:Megf8
|
UTSW |
7 |
25,048,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Megf8
|
UTSW |
7 |
25,048,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3433:Megf8
|
UTSW |
7 |
25,059,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3939:Megf8
|
UTSW |
7 |
25,058,627 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4022:Megf8
|
UTSW |
7 |
25,037,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Megf8
|
UTSW |
7 |
25,054,793 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4357:Megf8
|
UTSW |
7 |
25,055,174 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4521:Megf8
|
UTSW |
7 |
25,042,126 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4620:Megf8
|
UTSW |
7 |
25,054,523 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4700:Megf8
|
UTSW |
7 |
25,062,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Megf8
|
UTSW |
7 |
25,039,089 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4940:Megf8
|
UTSW |
7 |
25,060,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Megf8
|
UTSW |
7 |
25,030,517 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5258:Megf8
|
UTSW |
7 |
25,047,751 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5271:Megf8
|
UTSW |
7 |
25,041,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5390:Megf8
|
UTSW |
7 |
25,039,714 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5391:Megf8
|
UTSW |
7 |
25,039,714 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5708:Megf8
|
UTSW |
7 |
25,034,022 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5752:Megf8
|
UTSW |
7 |
25,054,539 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5930:Megf8
|
UTSW |
7 |
25,025,866 (GRCm39) |
nonsense |
probably null |
|
|
R6037:Megf8
|
UTSW |
7 |
25,063,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Megf8
|
UTSW |
7 |
25,063,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6153:Megf8
|
UTSW |
7 |
25,046,796 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6210:Megf8
|
UTSW |
7 |
25,043,145 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6457:Megf8
|
UTSW |
7 |
25,049,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6659:Megf8
|
UTSW |
7 |
25,058,159 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6867:Megf8
|
UTSW |
7 |
25,030,460 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6896:Megf8
|
UTSW |
7 |
25,029,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6899:Megf8
|
UTSW |
7 |
25,060,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6905:Megf8
|
UTSW |
7 |
25,037,357 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7099:Megf8
|
UTSW |
7 |
25,045,945 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7172:Megf8
|
UTSW |
7 |
25,043,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7378:Megf8
|
UTSW |
7 |
25,048,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7427:Megf8
|
UTSW |
7 |
25,037,796 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7492:Megf8
|
UTSW |
7 |
25,053,273 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7699:Megf8
|
UTSW |
7 |
25,029,353 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7700:Megf8
|
UTSW |
7 |
25,029,353 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7756:Megf8
|
UTSW |
7 |
25,041,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7758:Megf8
|
UTSW |
7 |
25,041,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7786:Megf8
|
UTSW |
7 |
25,017,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7797:Megf8
|
UTSW |
7 |
25,034,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7881:Megf8
|
UTSW |
7 |
25,040,060 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8165:Megf8
|
UTSW |
7 |
25,053,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8258:Megf8
|
UTSW |
7 |
25,057,848 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8259:Megf8
|
UTSW |
7 |
25,057,848 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8328:Megf8
|
UTSW |
7 |
25,046,917 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8362:Megf8
|
UTSW |
7 |
25,039,943 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8680:Megf8
|
UTSW |
7 |
25,059,166 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9080:Megf8
|
UTSW |
7 |
25,041,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9297:Megf8
|
UTSW |
7 |
25,030,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9314:Megf8
|
UTSW |
7 |
25,029,297 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9378:Megf8
|
UTSW |
7 |
25,039,840 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9530:Megf8
|
UTSW |
7 |
25,030,124 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9557:Megf8
|
UTSW |
7 |
25,058,511 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9592:Megf8
|
UTSW |
7 |
25,028,228 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9612:Megf8
|
UTSW |
7 |
25,054,488 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9629:Megf8
|
UTSW |
7 |
25,043,194 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9643:Megf8
|
UTSW |
7 |
25,046,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Megf8
|
UTSW |
7 |
25,030,166 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9745:Megf8
|
UTSW |
7 |
25,058,133 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1088:Megf8
|
UTSW |
7 |
25,039,094 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Megf8
|
UTSW |
7 |
25,046,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Megf8
|
UTSW |
7 |
25,045,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGAAGATGGCATGGCTG -3'
(R):5'- TGCTTTGTACCCACAACTGTAC -3'
Sequencing Primer
(F):5'- TGTGGCCACTCTGCTGC -3'
(R):5'- TGTACCCACAACTGTACTGGGC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation