Incidental Mutation 'R1962:Eml5'
| ID |
217021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
039976-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R1962 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
98753064-98867743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98842570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 176
(F176S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065716]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065716
AA Change: F176S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: F176S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HELP
|
1 |
49 |
3.3e-21 |
PFAM |
|
WD40
|
50 |
91 |
6.42e-1 |
SMART |
|
WD40
|
94 |
136 |
1.08e-4 |
SMART |
|
WD40
|
139 |
178 |
1.27e-1 |
SMART |
|
WD40
|
184 |
224 |
2.75e1 |
SMART |
|
WD40
|
225 |
263 |
2.65e-4 |
SMART |
|
Blast:WD40
|
265 |
312 |
2e-22 |
BLAST |
|
WD40
|
313 |
353 |
4.69e-5 |
SMART |
|
WD40
|
356 |
394 |
2.2e2 |
SMART |
|
WD40
|
397 |
436 |
8.59e-1 |
SMART |
|
WD40
|
444 |
479 |
6.6e1 |
SMART |
|
WD40
|
505 |
546 |
2.74e2 |
SMART |
|
WD40
|
552 |
592 |
4.8e-2 |
SMART |
|
low complexity region
|
609 |
632 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
656 |
715 |
1.4e-20 |
PFAM |
|
WD40
|
716 |
757 |
1.18e-1 |
SMART |
|
WD40
|
760 |
802 |
2.84e-4 |
SMART |
|
WD40
|
805 |
844 |
1.91e1 |
SMART |
|
WD40
|
853 |
891 |
2.64e2 |
SMART |
|
WD40
|
892 |
929 |
3.45e-3 |
SMART |
|
WD40
|
985 |
1026 |
4.55e-3 |
SMART |
|
WD40
|
1029 |
1068 |
6.39e0 |
SMART |
|
WD40
|
1071 |
1111 |
5.15e-2 |
SMART |
|
WD40
|
1180 |
1221 |
1.9e2 |
SMART |
|
WD40
|
1227 |
1267 |
1.38e0 |
SMART |
|
low complexity region
|
1280 |
1297 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
1335 |
1410 |
2.4e-16 |
PFAM |
|
Blast:WD40
|
1412 |
1462 |
8e-28 |
BLAST |
|
WD40
|
1465 |
1507 |
1.56e-1 |
SMART |
|
WD40
|
1510 |
1549 |
2.06e0 |
SMART |
|
WD40
|
1558 |
1597 |
8.22e1 |
SMART |
|
WD40
|
1599 |
1644 |
4.26e1 |
SMART |
|
WD40
|
1690 |
1730 |
2.19e-5 |
SMART |
|
WD40
|
1774 |
1813 |
5.97e-1 |
SMART |
|
WD40
|
1884 |
1925 |
2.39e0 |
SMART |
|
WD40
|
1931 |
1971 |
2.88e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223282
AA Change: F176S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,940,468 (GRCm39) |
I354M |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,917,731 (GRCm39) |
|
probably null |
Het |
| Abca8b |
T |
C |
11: 109,870,724 (GRCm39) |
R143G |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,594,047 (GRCm39) |
D840G |
probably damaging |
Het |
| Agpat5 |
T |
C |
8: 18,928,026 (GRCm39) |
L197P |
probably damaging |
Het |
| Akr1d1 |
T |
C |
6: 37,512,983 (GRCm39) |
V93A |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,834,007 (GRCm39) |
K820R |
possibly damaging |
Het |
| Armc9 |
T |
A |
1: 86,135,696 (GRCm39) |
C551S |
probably damaging |
Het |
| Atg7 |
T |
C |
6: 114,683,191 (GRCm39) |
L418P |
probably damaging |
Het |
| Awat2 |
G |
A |
X: 99,448,165 (GRCm39) |
P148S |
probably damaging |
Het |
| Brms1 |
C |
T |
19: 5,096,027 (GRCm39) |
R34W |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 118,919,395 (GRCm39) |
Q320R |
possibly damaging |
Het |
| Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
| Ccdc30 |
C |
T |
4: 119,196,988 (GRCm39) |
R426Q |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,356,885 (GRCm39) |
V47E |
probably damaging |
Het |
| Cep170b |
C |
T |
12: 112,704,495 (GRCm39) |
S751L |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,246,957 (GRCm39) |
L328Q |
probably damaging |
Het |
| Crtc3 |
A |
G |
7: 80,239,679 (GRCm39) |
F558L |
probably damaging |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,809 (GRCm39) |
V139A |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,413,408 (GRCm39) |
Y1136H |
probably damaging |
Het |
| Dhrs4 |
T |
C |
14: 55,725,060 (GRCm39) |
V185A |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,281,263 (GRCm39) |
K2775E |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,230,097 (GRCm39) |
S2238R |
possibly damaging |
Het |
| Duox2 |
T |
C |
2: 122,127,853 (GRCm39) |
|
probably null |
Het |
| Dusp16 |
G |
T |
6: 134,695,099 (GRCm39) |
Y577* |
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Esco2 |
C |
A |
14: 66,068,982 (GRCm39) |
R109S |
probably damaging |
Het |
| Galnt7 |
C |
T |
8: 57,985,748 (GRCm39) |
E541K |
probably benign |
Het |
| Gbf1 |
C |
T |
19: 46,255,658 (GRCm39) |
T707I |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,672 (GRCm39) |
C427R |
probably damaging |
Het |
| Glyctk |
T |
C |
9: 106,035,064 (GRCm39) |
M1V |
probably null |
Het |
| Gm5478 |
T |
C |
15: 101,552,830 (GRCm39) |
E367G |
probably damaging |
Het |
| Golga7b |
G |
A |
19: 42,251,768 (GRCm39) |
V5I |
probably benign |
Het |
| Gpt2 |
T |
C |
8: 86,219,764 (GRCm39) |
L70P |
probably damaging |
Het |
| Gsdmc3 |
C |
A |
15: 63,730,315 (GRCm39) |
Q416H |
probably damaging |
Het |
| Hoxb5 |
A |
G |
11: 96,194,918 (GRCm39) |
E160G |
probably benign |
Het |
| Ift81 |
A |
T |
5: 122,698,772 (GRCm39) |
Y532N |
probably benign |
Het |
| Igf1 |
G |
A |
10: 87,700,726 (GRCm39) |
C66Y |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,857,023 (GRCm39) |
V995A |
probably damaging |
Het |
| Ip6k1 |
T |
C |
9: 107,918,287 (GRCm39) |
|
probably null |
Het |
| Jaml |
T |
C |
9: 45,015,495 (GRCm39) |
I333T |
possibly damaging |
Het |
| Kdm4c |
T |
C |
4: 74,225,253 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,292,191 (GRCm39) |
|
probably benign |
Het |
| Krt6a |
C |
T |
15: 101,599,900 (GRCm39) |
R404H |
probably damaging |
Het |
| Larp4b |
C |
A |
13: 9,186,878 (GRCm39) |
H69N |
probably benign |
Het |
| Lcat |
A |
T |
8: 106,668,355 (GRCm39) |
W222R |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,746,086 (GRCm39) |
C54S |
probably benign |
Het |
| Mcpt9 |
T |
A |
14: 56,265,024 (GRCm39) |
H159L |
probably benign |
Het |
| Megf8 |
T |
C |
7: 25,062,976 (GRCm39) |
V2444A |
probably damaging |
Het |
| Memo1 |
T |
C |
17: 74,552,003 (GRCm39) |
T98A |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 112,012,051 (GRCm39) |
I634L |
probably benign |
Het |
| Mov10 |
C |
T |
3: 104,704,293 (GRCm39) |
R835Q |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,384,688 (GRCm39) |
L546Q |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,168,117 (GRCm39) |
V427A |
probably damaging |
Het |
| Myom2 |
T |
A |
8: 15,182,599 (GRCm39) |
|
probably null |
Het |
| Mzt2 |
G |
A |
16: 15,666,543 (GRCm39) |
R125C |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,162,949 (GRCm39) |
R2031* |
probably null |
Het |
| Nphp3 |
T |
C |
9: 103,898,537 (GRCm39) |
S447P |
probably benign |
Het |
| Nrp2 |
T |
A |
1: 62,758,090 (GRCm39) |
D25E |
probably benign |
Het |
| Nts |
A |
G |
10: 102,320,918 (GRCm39) |
L57S |
probably damaging |
Het |
| Nudt9 |
G |
A |
5: 104,212,971 (GRCm39) |
R348H |
probably benign |
Het |
| Or10d5j |
T |
C |
9: 39,867,979 (GRCm39) |
Y84C |
probably benign |
Het |
| Or13a1 |
C |
T |
6: 116,470,725 (GRCm39) |
P52S |
probably benign |
Het |
| Or3a1b |
C |
A |
11: 74,012,650 (GRCm39) |
D178E |
probably benign |
Het |
| Or4k49 |
T |
C |
2: 111,495,234 (GRCm39) |
I221T |
probably damaging |
Het |
| Or5ac16 |
T |
A |
16: 59,022,271 (GRCm39) |
I173F |
possibly damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,590,177 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
C |
A |
18: 63,211,911 (GRCm39) |
M1291I |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,498,016 (GRCm39) |
F486S |
probably benign |
Het |
| Podnl1 |
C |
T |
8: 84,853,926 (GRCm39) |
H99Y |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,701,233 (GRCm39) |
Y341F |
probably damaging |
Het |
| Prr5l |
C |
T |
2: 101,588,854 (GRCm39) |
|
probably null |
Het |
| Psmd4 |
G |
T |
3: 94,944,012 (GRCm39) |
T24N |
possibly damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,667 (GRCm39) |
T242M |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
C |
12: 51,469,769 (GRCm39) |
V438A |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,655 (GRCm39) |
C1677R |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Shank1 |
T |
A |
7: 43,993,747 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
G |
T |
19: 26,650,124 (GRCm39) |
E24* |
probably null |
Het |
| Sncaip |
C |
T |
18: 53,004,434 (GRCm39) |
H354Y |
probably damaging |
Het |
| St8sia2 |
T |
A |
7: 73,593,057 (GRCm39) |
D333V |
probably damaging |
Het |
| Stxbp2 |
C |
A |
8: 3,692,672 (GRCm39) |
R575S |
probably benign |
Het |
| Syt9 |
T |
A |
7: 107,024,314 (GRCm39) |
V69D |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,689,558 (GRCm39) |
N240S |
probably benign |
Het |
| Tcl1b1 |
T |
C |
12: 105,130,727 (GRCm39) |
L70S |
probably benign |
Het |
| Tmem44 |
C |
T |
16: 30,362,219 (GRCm39) |
|
probably null |
Het |
| Tor1b |
A |
G |
2: 30,846,931 (GRCm39) |
R293G |
probably benign |
Het |
| Trim29 |
T |
C |
9: 43,222,615 (GRCm39) |
V148A |
probably benign |
Het |
| Trmt10b |
C |
A |
4: 45,314,378 (GRCm39) |
Y271* |
probably null |
Het |
| Ubqln5 |
A |
T |
7: 103,778,095 (GRCm39) |
V243E |
possibly damaging |
Het |
| Ubqln5 |
T |
C |
7: 103,778,134 (GRCm39) |
D230G |
probably damaging |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,193 (GRCm39) |
F146S |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,570,827 (GRCm39) |
V60E |
probably damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,185 (GRCm39) |
D390V |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,200,793 (GRCm39) |
R388Q |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,398,369 (GRCm39) |
V537D |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,226,591 (GRCm39) |
S416P |
probably damaging |
Het |
| Vmn2r98 |
C |
A |
17: 19,285,595 (GRCm39) |
Y138* |
probably null |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,696,824 (GRCm39) |
V620A |
probably benign |
Het |
| Xrra1 |
A |
C |
7: 99,560,227 (GRCm39) |
E401A |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,242,362 (GRCm39) |
C688* |
probably null |
Het |
| Zfp3 |
T |
A |
11: 70,662,954 (GRCm39) |
Y304* |
probably null |
Het |
| Zfp407 |
A |
T |
18: 84,577,461 (GRCm39) |
D1217E |
probably benign |
Het |
| Zfp658 |
T |
C |
7: 43,223,245 (GRCm39) |
Y507H |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,659,252 (GRCm39) |
T220A |
possibly damaging |
Het |
| Zmym4 |
C |
G |
4: 126,796,463 (GRCm39) |
K820N |
possibly damaging |
Het |
|
| Other mutations in Eml5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Eml5
|
APN |
12 |
98,839,468 (GRCm39) |
splice site |
probably benign |
|
|
IGL00473:Eml5
|
APN |
12 |
98,771,751 (GRCm39) |
splice site |
probably benign |
|
|
IGL01120:Eml5
|
APN |
12 |
98,810,278 (GRCm39) |
missense |
probably benign |
|
|
IGL01308:Eml5
|
APN |
12 |
98,768,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01790:Eml5
|
APN |
12 |
98,765,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01973:Eml5
|
APN |
12 |
98,829,539 (GRCm39) |
missense |
probably benign |
|
|
IGL02182:Eml5
|
APN |
12 |
98,768,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02201:Eml5
|
APN |
12 |
98,760,683 (GRCm39) |
splice site |
probably benign |
|
|
IGL02375:Eml5
|
APN |
12 |
98,810,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Eml5
|
APN |
12 |
98,756,933 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02480:Eml5
|
APN |
12 |
98,842,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Eml5
|
APN |
12 |
98,784,104 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02876:Eml5
|
APN |
12 |
98,825,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03104:Eml5
|
APN |
12 |
98,827,504 (GRCm39) |
nonsense |
probably null |
|
|
IGL03158:Eml5
|
APN |
12 |
98,793,773 (GRCm39) |
splice site |
probably benign |
|
|
IGL03286:Eml5
|
APN |
12 |
98,826,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Eml5
|
APN |
12 |
98,840,906 (GRCm39) |
splice site |
probably benign |
|
|
BB010:Eml5
|
UTSW |
12 |
98,810,279 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
BB020:Eml5
|
UTSW |
12 |
98,810,279 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0573:Eml5
|
UTSW |
12 |
98,791,031 (GRCm39) |
splice site |
probably null |
|
|
R0624:Eml5
|
UTSW |
12 |
98,831,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0993:Eml5
|
UTSW |
12 |
98,827,442 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1073:Eml5
|
UTSW |
12 |
98,797,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Eml5
|
UTSW |
12 |
98,758,305 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1352:Eml5
|
UTSW |
12 |
98,797,262 (GRCm39) |
splice site |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,825,082 (GRCm39) |
missense |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,825,082 (GRCm39) |
missense |
probably benign |
|
|
R1503:Eml5
|
UTSW |
12 |
98,797,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1538:Eml5
|
UTSW |
12 |
98,760,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1689:Eml5
|
UTSW |
12 |
98,797,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Eml5
|
UTSW |
12 |
98,765,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Eml5
|
UTSW |
12 |
98,818,963 (GRCm39) |
splice site |
probably null |
|
|
R1791:Eml5
|
UTSW |
12 |
98,853,315 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1856:Eml5
|
UTSW |
12 |
98,776,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Eml5
|
UTSW |
12 |
98,765,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Eml5
|
UTSW |
12 |
98,826,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Eml5
|
UTSW |
12 |
98,757,645 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2035:Eml5
|
UTSW |
12 |
98,760,525 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2073:Eml5
|
UTSW |
12 |
98,768,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2143:Eml5
|
UTSW |
12 |
98,776,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Eml5
|
UTSW |
12 |
98,776,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Eml5
|
UTSW |
12 |
98,810,205 (GRCm39) |
splice site |
probably benign |
|
|
R2164:Eml5
|
UTSW |
12 |
98,853,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2175:Eml5
|
UTSW |
12 |
98,842,482 (GRCm39) |
nonsense |
probably null |
|
|
R2200:Eml5
|
UTSW |
12 |
98,791,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Eml5
|
UTSW |
12 |
98,807,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Eml5
|
UTSW |
12 |
98,810,364 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2871:Eml5
|
UTSW |
12 |
98,831,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Eml5
|
UTSW |
12 |
98,831,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2958:Eml5
|
UTSW |
12 |
98,842,437 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3013:Eml5
|
UTSW |
12 |
98,847,067 (GRCm39) |
splice site |
probably null |
|
|
R3118:Eml5
|
UTSW |
12 |
98,831,753 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3735:Eml5
|
UTSW |
12 |
98,822,248 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3856:Eml5
|
UTSW |
12 |
98,782,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3900:Eml5
|
UTSW |
12 |
98,791,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Eml5
|
UTSW |
12 |
98,768,724 (GRCm39) |
splice site |
probably benign |
|
|
R3976:Eml5
|
UTSW |
12 |
98,768,724 (GRCm39) |
splice site |
probably benign |
|
|
R4105:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4107:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4108:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4109:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4258:Eml5
|
UTSW |
12 |
98,831,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4381:Eml5
|
UTSW |
12 |
98,782,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4590:Eml5
|
UTSW |
12 |
98,803,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4737:Eml5
|
UTSW |
12 |
98,765,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4775:Eml5
|
UTSW |
12 |
98,768,566 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4850:Eml5
|
UTSW |
12 |
98,756,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Eml5
|
UTSW |
12 |
98,797,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Eml5
|
UTSW |
12 |
98,758,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Eml5
|
UTSW |
12 |
98,840,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Eml5
|
UTSW |
12 |
98,758,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Eml5
|
UTSW |
12 |
98,756,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Eml5
|
UTSW |
12 |
98,825,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5430:Eml5
|
UTSW |
12 |
98,760,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5748:Eml5
|
UTSW |
12 |
98,791,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5769:Eml5
|
UTSW |
12 |
98,756,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5832:Eml5
|
UTSW |
12 |
98,842,447 (GRCm39) |
missense |
probably benign |
|
|
R6113:Eml5
|
UTSW |
12 |
98,790,933 (GRCm39) |
nonsense |
probably null |
|
|
R6131:Eml5
|
UTSW |
12 |
98,827,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6175:Eml5
|
UTSW |
12 |
98,760,715 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6184:Eml5
|
UTSW |
12 |
98,829,388 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6357:Eml5
|
UTSW |
12 |
98,837,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6375:Eml5
|
UTSW |
12 |
98,765,127 (GRCm39) |
|
|
|
|
R6528:Eml5
|
UTSW |
12 |
98,790,896 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6657:Eml5
|
UTSW |
12 |
98,757,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6717:Eml5
|
UTSW |
12 |
98,793,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Eml5
|
UTSW |
12 |
98,831,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6833:Eml5
|
UTSW |
12 |
98,853,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Eml5
|
UTSW |
12 |
98,853,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Eml5
|
UTSW |
12 |
98,842,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7091:Eml5
|
UTSW |
12 |
98,768,733 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7353:Eml5
|
UTSW |
12 |
98,791,683 (GRCm39) |
missense |
|
|
|
R7644:Eml5
|
UTSW |
12 |
98,822,203 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7694:Eml5
|
UTSW |
12 |
98,758,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7842:Eml5
|
UTSW |
12 |
98,760,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Eml5
|
UTSW |
12 |
98,810,279 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8111:Eml5
|
UTSW |
12 |
98,758,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8198:Eml5
|
UTSW |
12 |
98,825,145 (GRCm39) |
nonsense |
probably null |
|
|
R8482:Eml5
|
UTSW |
12 |
98,842,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Eml5
|
UTSW |
12 |
98,782,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8956:Eml5
|
UTSW |
12 |
98,818,952 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8975:Eml5
|
UTSW |
12 |
98,776,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9131:Eml5
|
UTSW |
12 |
98,825,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Eml5
|
UTSW |
12 |
98,810,376 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9261:Eml5
|
UTSW |
12 |
98,822,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9276:Eml5
|
UTSW |
12 |
98,765,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9301:Eml5
|
UTSW |
12 |
98,848,292 (GRCm39) |
nonsense |
probably null |
|
|
R9368:Eml5
|
UTSW |
12 |
98,762,837 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9392:Eml5
|
UTSW |
12 |
98,867,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Eml5
|
UTSW |
12 |
98,842,433 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9449:Eml5
|
UTSW |
12 |
98,827,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Eml5
|
UTSW |
12 |
98,782,243 (GRCm39) |
missense |
probably benign |
0.15 |
|
T0722:Eml5
|
UTSW |
12 |
98,807,841 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTACAGTATGGGCTCCTTGTATTG -3'
(R):5'- ACCGATAAGGATTGAAACTAGTGAC -3'
Sequencing Primer
(F):5'- TGTTCGTATAAGATTGATTCCTTTCC -3'
(R):5'- GGATTGAAACTAGTGACTAATCTGC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation