Incidental Mutation 'R1864:Ecpas'
ID |
208469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ecpas
|
Ensembl Gene |
ENSMUSG00000050812 |
Gene Name |
Ecm29 proteasome adaptor and scaffold |
Synonyms |
AI314180 |
MMRRC Submission |
039887-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.352)
|
Stock # |
R1864 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
58798911-58912749 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58849942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 427
(H427L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103182
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102889]
[ENSMUST00000107557]
[ENSMUST00000144512]
[ENSMUST00000149301]
|
AlphaFold |
Q6PDI5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102889
AA Change: H427L
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099953 Gene: ENSMUSG00000050812 AA Change: H427L
Domain | Start | End | E-Value | Type |
Pfam:Ecm29
|
10 |
517 |
1.1e-155 |
PFAM |
low complexity region
|
627 |
642 |
N/A |
INTRINSIC |
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
SCOP:d1qbkb_
|
693 |
1491 |
3e-31 |
SMART |
low complexity region
|
1781 |
1797 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107557
AA Change: H427L
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103182 Gene: ENSMUSG00000050812 AA Change: H427L
Domain | Start | End | E-Value | Type |
Pfam:Ecm29
|
10 |
517 |
7.6e-164 |
PFAM |
low complexity region
|
627 |
642 |
N/A |
INTRINSIC |
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144512
AA Change: H427L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000118103 Gene: ENSMUSG00000050812 AA Change: H427L
Domain | Start | End | E-Value | Type |
Pfam:Ecm29
|
10 |
517 |
2.3e-164 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149301
AA Change: H427L
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117585 Gene: ENSMUSG00000050812 AA Change: H427L
Domain | Start | End | E-Value | Type |
Pfam:Ecm29
|
10 |
517 |
4e-163 |
PFAM |
low complexity region
|
627 |
642 |
N/A |
INTRINSIC |
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
SCOP:d1qbkb_
|
693 |
1490 |
8e-32 |
SMART |
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 112 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg2 |
G |
A |
X: 159,265,347 (GRCm39) |
M532I |
probably benign |
Het |
Agtpbp1 |
A |
G |
13: 59,598,016 (GRCm39) |
Y1198H |
possibly damaging |
Het |
Ahcyl2 |
G |
A |
6: 29,908,354 (GRCm39) |
V575M |
probably damaging |
Het |
Akp3 |
TCACCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCACCAC |
1: 87,055,489 (GRCm39) |
|
probably benign |
Het |
Ankrd50 |
A |
T |
3: 38,508,610 (GRCm39) |
N329K |
probably benign |
Het |
Ano4 |
C |
A |
10: 88,807,253 (GRCm39) |
G741V |
probably damaging |
Het |
Anxa1 |
T |
C |
19: 20,357,053 (GRCm39) |
D191G |
probably benign |
Het |
Apc2 |
C |
T |
10: 80,149,482 (GRCm39) |
T1512I |
probably damaging |
Het |
Aph1b |
A |
T |
9: 66,701,395 (GRCm39) |
C81S |
probably benign |
Het |
Arhgap21 |
T |
C |
2: 20,866,015 (GRCm39) |
E893G |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,130,640 (GRCm39) |
H399Q |
probably benign |
Het |
Asic5 |
A |
G |
3: 81,919,294 (GRCm39) |
E304G |
probably benign |
Het |
B4galnt4 |
A |
G |
7: 140,650,446 (GRCm39) |
Y771C |
probably damaging |
Het |
Birc2 |
G |
T |
9: 7,819,518 (GRCm39) |
Q465K |
probably benign |
Het |
Btla |
C |
T |
16: 45,070,737 (GRCm39) |
T232I |
probably damaging |
Het |
Ccl7 |
G |
T |
11: 81,937,378 (GRCm39) |
K37N |
probably benign |
Het |
Cdk17 |
T |
C |
10: 93,061,967 (GRCm39) |
V233A |
probably damaging |
Het |
Cenatac |
A |
G |
9: 44,329,018 (GRCm39) |
C66R |
probably damaging |
Het |
Cilp2 |
C |
A |
8: 70,333,973 (GRCm39) |
Q1008H |
probably damaging |
Het |
Clcn1 |
T |
A |
6: 42,282,475 (GRCm39) |
D442E |
probably damaging |
Het |
Clcnka |
T |
C |
4: 141,120,113 (GRCm39) |
T269A |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,534,385 (GRCm39) |
|
probably null |
Het |
Cts6 |
A |
G |
13: 61,349,393 (GRCm39) |
I105T |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,931,739 (GRCm39) |
D123G |
probably damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,045,105 (GRCm39) |
L808Q |
probably damaging |
Het |
Ddrgk1 |
A |
T |
2: 130,496,215 (GRCm39) |
I270N |
probably damaging |
Het |
Dhx15 |
T |
C |
5: 52,342,043 (GRCm39) |
T92A |
possibly damaging |
Het |
Dhx32 |
A |
T |
7: 133,339,025 (GRCm39) |
C197S |
probably benign |
Het |
Diaph2 |
G |
A |
X: 128,860,876 (GRCm39) |
R473Q |
probably damaging |
Het |
Dnd1 |
A |
G |
18: 36,899,057 (GRCm39) |
C11R |
possibly damaging |
Het |
Dock1 |
A |
C |
7: 134,748,236 (GRCm39) |
D1566A |
probably benign |
Het |
Drp2 |
A |
G |
X: 133,327,864 (GRCm39) |
I43V |
probably benign |
Het |
Ecm2 |
T |
C |
13: 49,683,621 (GRCm39) |
V533A |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,075,934 (GRCm39) |
E725G |
probably damaging |
Het |
Eml2 |
A |
G |
7: 18,935,803 (GRCm39) |
Y487C |
probably damaging |
Het |
Epg5 |
T |
A |
18: 78,018,246 (GRCm39) |
L919H |
probably damaging |
Het |
Fam187a |
T |
A |
11: 102,776,837 (GRCm39) |
S214T |
probably damaging |
Het |
Flna |
T |
C |
X: 73,283,869 (GRCm39) |
T521A |
probably benign |
Het |
Foxi1 |
T |
A |
11: 34,157,531 (GRCm39) |
I165F |
probably damaging |
Het |
Fxr2 |
A |
T |
11: 69,543,103 (GRCm39) |
K633N |
probably benign |
Het |
Gdpd5 |
T |
C |
7: 99,098,206 (GRCm39) |
I209T |
probably benign |
Het |
Gmpr |
G |
T |
13: 45,696,101 (GRCm39) |
V278F |
probably damaging |
Het |
Grm7 |
A |
T |
6: 111,057,384 (GRCm39) |
D328V |
probably benign |
Het |
Heatr6 |
T |
C |
11: 83,660,056 (GRCm39) |
S534P |
probably damaging |
Het |
Heph |
A |
G |
X: 95,573,092 (GRCm39) |
T792A |
probably damaging |
Het |
Hipk2 |
T |
A |
6: 38,695,870 (GRCm39) |
|
probably null |
Het |
Hps3 |
T |
A |
3: 20,074,123 (GRCm39) |
|
probably null |
Het |
Hspa5 |
T |
C |
2: 34,664,553 (GRCm39) |
F336L |
probably damaging |
Het |
Insc |
T |
C |
7: 114,441,413 (GRCm39) |
I409T |
probably benign |
Het |
Kcnj8 |
T |
A |
6: 142,515,966 (GRCm39) |
H47L |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,853,230 (GRCm39) |
Q108L |
probably damaging |
Het |
Klc3 |
A |
G |
7: 19,131,966 (GRCm39) |
V137A |
probably damaging |
Het |
Lcn2 |
T |
C |
2: 32,275,434 (GRCm39) |
T194A |
possibly damaging |
Het |
Lgr4 |
T |
A |
2: 109,841,742 (GRCm39) |
F576I |
possibly damaging |
Het |
Lypd6b |
A |
G |
2: 49,837,459 (GRCm39) |
I144V |
possibly damaging |
Het |
Mctp1 |
G |
A |
13: 76,533,267 (GRCm39) |
C205Y |
possibly damaging |
Het |
Mitf |
A |
T |
6: 97,987,383 (GRCm39) |
N159I |
probably damaging |
Het |
Morc1 |
T |
C |
16: 48,412,893 (GRCm39) |
I678T |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,576,625 (GRCm39) |
|
probably benign |
Het |
Myo7a |
T |
C |
7: 97,701,463 (GRCm39) |
Y2115C |
probably damaging |
Het |
Myof |
T |
C |
19: 37,975,153 (GRCm39) |
I182V |
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,272,245 (GRCm39) |
V635A |
probably damaging |
Het |
Neb |
G |
T |
2: 52,102,772 (GRCm39) |
Y4257* |
probably null |
Het |
Npr2 |
T |
A |
4: 43,641,258 (GRCm39) |
V428E |
probably benign |
Het |
Nufip2 |
A |
G |
11: 77,583,124 (GRCm39) |
D346G |
probably damaging |
Het |
Obsl1 |
G |
A |
1: 75,469,753 (GRCm39) |
S1088F |
probably benign |
Het |
Or10s1 |
T |
G |
9: 39,986,081 (GRCm39) |
I163M |
possibly damaging |
Het |
Or2ag1 |
T |
C |
7: 106,313,030 (GRCm39) |
N286S |
possibly damaging |
Het |
Or4c127 |
T |
A |
2: 89,832,825 (GRCm39) |
V25E |
probably benign |
Het |
Or4k38 |
C |
T |
2: 111,166,052 (GRCm39) |
V124M |
possibly damaging |
Het |
Or5ac22 |
A |
G |
16: 59,135,378 (GRCm39) |
Y131H |
probably damaging |
Het |
Or8b9 |
T |
A |
9: 37,766,560 (GRCm39) |
Y149N |
probably damaging |
Het |
Pdgfrb |
G |
A |
18: 61,204,789 (GRCm39) |
V550I |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,185,389 (GRCm39) |
L237* |
probably null |
Het |
Pla2r1 |
G |
A |
2: 60,259,055 (GRCm39) |
T1111M |
probably benign |
Het |
Plxnd1 |
A |
T |
6: 115,946,402 (GRCm39) |
|
probably null |
Het |
Pnp |
G |
C |
14: 51,185,430 (GRCm39) |
A67P |
probably benign |
Het |
Ppp1r3a |
A |
T |
6: 14,718,404 (GRCm39) |
S837T |
probably damaging |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Prom2 |
T |
C |
2: 127,381,707 (GRCm39) |
D203G |
probably benign |
Het |
Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
Rnf115 |
A |
G |
3: 96,635,153 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rusc2 |
C |
A |
4: 43,421,719 (GRCm39) |
A713D |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,560,673 (GRCm39) |
H3009Q |
possibly damaging |
Het |
Serpina1d |
C |
A |
12: 103,734,256 (GRCm39) |
C16F |
probably benign |
Het |
Serpinf2 |
G |
T |
11: 75,328,309 (GRCm39) |
R80S |
possibly damaging |
Het |
Sh2d4a |
C |
A |
8: 68,781,967 (GRCm39) |
Q192K |
probably benign |
Het |
Sh3d21 |
T |
A |
4: 126,044,729 (GRCm39) |
|
probably null |
Het |
Sh3rf2 |
T |
A |
18: 42,187,046 (GRCm39) |
L55Q |
probably damaging |
Het |
Shc4 |
T |
C |
2: 125,481,287 (GRCm39) |
D255G |
probably damaging |
Het |
Skint2 |
T |
A |
4: 112,483,106 (GRCm39) |
H170Q |
probably benign |
Het |
Slc29a4 |
A |
G |
5: 142,703,509 (GRCm39) |
Y261C |
probably damaging |
Het |
Slc35a5 |
A |
T |
16: 44,964,071 (GRCm39) |
N102K |
possibly damaging |
Het |
Slc38a3 |
A |
T |
9: 107,533,152 (GRCm39) |
I307K |
probably damaging |
Het |
Sv2b |
A |
T |
7: 74,773,828 (GRCm39) |
S548T |
probably benign |
Het |
Tgfbi |
T |
C |
13: 56,780,694 (GRCm39) |
S524P |
probably benign |
Het |
Tgm5 |
T |
C |
2: 120,905,699 (GRCm39) |
D152G |
probably damaging |
Het |
Tmem213 |
A |
G |
6: 38,086,487 (GRCm39) |
T48A |
possibly damaging |
Het |
Tmem37 |
A |
G |
1: 119,995,952 (GRCm39) |
S42P |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,917,764 (GRCm39) |
K1258R |
probably damaging |
Het |
Ttc22 |
T |
C |
4: 106,494,003 (GRCm39) |
V321A |
probably benign |
Het |
Ube2c |
C |
A |
2: 164,611,943 (GRCm39) |
A15E |
probably benign |
Het |
Ubn2 |
T |
A |
6: 38,417,425 (GRCm39) |
D154E |
possibly damaging |
Het |
Umod |
A |
T |
7: 119,062,478 (GRCm39) |
L631M |
probably damaging |
Het |
Ush1c |
G |
A |
7: 45,868,816 (GRCm39) |
Q373* |
probably null |
Het |
Vmn1r238 |
T |
A |
18: 3,123,040 (GRCm39) |
R125* |
probably null |
Het |
Wnt8b |
T |
C |
19: 44,482,029 (GRCm39) |
L14P |
probably benign |
Het |
Wrn |
G |
A |
8: 33,778,892 (GRCm39) |
A563V |
probably damaging |
Het |
Zfp268 |
A |
T |
4: 145,348,998 (GRCm39) |
Q145L |
possibly damaging |
Het |
Zfp608 |
A |
G |
18: 55,030,983 (GRCm39) |
S986P |
probably benign |
Het |
Znrf3 |
T |
C |
11: 5,233,373 (GRCm39) |
H228R |
possibly damaging |
Het |
|
Other mutations in Ecpas |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00799:Ecpas
|
APN |
4 |
58,828,047 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01145:Ecpas
|
APN |
4 |
58,811,501 (GRCm39) |
missense |
probably null |
0.08 |
IGL01371:Ecpas
|
APN |
4 |
58,809,718 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01445:Ecpas
|
APN |
4 |
58,833,988 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01452:Ecpas
|
APN |
4 |
58,836,181 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01626:Ecpas
|
APN |
4 |
58,832,814 (GRCm39) |
splice site |
probably benign |
|
IGL01672:Ecpas
|
APN |
4 |
58,814,041 (GRCm39) |
missense |
probably benign |
0.40 |
IGL01943:Ecpas
|
APN |
4 |
58,849,937 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01944:Ecpas
|
APN |
4 |
58,861,544 (GRCm39) |
missense |
probably benign |
0.42 |
IGL02190:Ecpas
|
APN |
4 |
58,800,190 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02272:Ecpas
|
APN |
4 |
58,811,731 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02435:Ecpas
|
APN |
4 |
58,830,325 (GRCm39) |
splice site |
probably benign |
|
IGL02516:Ecpas
|
APN |
4 |
58,877,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02540:Ecpas
|
APN |
4 |
58,805,534 (GRCm39) |
splice site |
probably benign |
|
IGL02709:Ecpas
|
APN |
4 |
58,872,699 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02742:Ecpas
|
APN |
4 |
58,840,757 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02812:Ecpas
|
APN |
4 |
58,864,343 (GRCm39) |
splice site |
probably benign |
|
IGL02828:Ecpas
|
APN |
4 |
58,875,512 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL03130:Ecpas
|
APN |
4 |
58,800,288 (GRCm39) |
missense |
probably benign |
|
IGL03179:Ecpas
|
APN |
4 |
58,832,777 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03237:Ecpas
|
APN |
4 |
58,810,668 (GRCm39) |
missense |
probably benign |
0.40 |
IGL03344:Ecpas
|
APN |
4 |
58,828,538 (GRCm39) |
missense |
probably damaging |
1.00 |
boone
|
UTSW |
4 |
58,877,157 (GRCm39) |
missense |
probably damaging |
1.00 |
Crockett
|
UTSW |
4 |
58,879,100 (GRCm39) |
missense |
probably damaging |
1.00 |
frontiersman
|
UTSW |
4 |
58,832,753 (GRCm39) |
missense |
probably benign |
|
BB006:Ecpas
|
UTSW |
4 |
58,869,554 (GRCm39) |
missense |
probably damaging |
1.00 |
BB016:Ecpas
|
UTSW |
4 |
58,869,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R0051:Ecpas
|
UTSW |
4 |
58,832,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R0051:Ecpas
|
UTSW |
4 |
58,832,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R0313:Ecpas
|
UTSW |
4 |
58,811,892 (GRCm39) |
missense |
probably benign |
0.11 |
R0399:Ecpas
|
UTSW |
4 |
58,827,047 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0487:Ecpas
|
UTSW |
4 |
58,819,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R0492:Ecpas
|
UTSW |
4 |
58,864,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R0705:Ecpas
|
UTSW |
4 |
58,885,366 (GRCm39) |
critical splice donor site |
probably null |
|
R0847:Ecpas
|
UTSW |
4 |
58,841,439 (GRCm39) |
missense |
probably benign |
0.14 |
R1467:Ecpas
|
UTSW |
4 |
58,832,753 (GRCm39) |
missense |
probably benign |
|
R1467:Ecpas
|
UTSW |
4 |
58,832,753 (GRCm39) |
missense |
probably benign |
|
R1482:Ecpas
|
UTSW |
4 |
58,820,163 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1529:Ecpas
|
UTSW |
4 |
58,832,701 (GRCm39) |
splice site |
probably null |
|
R1771:Ecpas
|
UTSW |
4 |
58,879,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Ecpas
|
UTSW |
4 |
58,879,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Ecpas
|
UTSW |
4 |
58,805,539 (GRCm39) |
critical splice donor site |
probably null |
|
R2029:Ecpas
|
UTSW |
4 |
58,844,165 (GRCm39) |
nonsense |
probably null |
|
R2061:Ecpas
|
UTSW |
4 |
58,824,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Ecpas
|
UTSW |
4 |
58,833,978 (GRCm39) |
missense |
probably benign |
|
R2266:Ecpas
|
UTSW |
4 |
58,830,332 (GRCm39) |
critical splice donor site |
probably null |
|
R2889:Ecpas
|
UTSW |
4 |
58,836,165 (GRCm39) |
missense |
probably benign |
|
R2902:Ecpas
|
UTSW |
4 |
58,809,691 (GRCm39) |
missense |
probably benign |
0.31 |
R2903:Ecpas
|
UTSW |
4 |
58,828,622 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2925:Ecpas
|
UTSW |
4 |
58,833,928 (GRCm39) |
nonsense |
probably null |
|
R4151:Ecpas
|
UTSW |
4 |
58,836,254 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4225:Ecpas
|
UTSW |
4 |
58,847,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R4486:Ecpas
|
UTSW |
4 |
58,820,086 (GRCm39) |
intron |
probably benign |
|
R4576:Ecpas
|
UTSW |
4 |
58,834,708 (GRCm39) |
intron |
probably benign |
|
R4580:Ecpas
|
UTSW |
4 |
58,840,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R4654:Ecpas
|
UTSW |
4 |
58,834,523 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4688:Ecpas
|
UTSW |
4 |
58,840,757 (GRCm39) |
missense |
probably damaging |
0.96 |
R4726:Ecpas
|
UTSW |
4 |
58,844,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R4825:Ecpas
|
UTSW |
4 |
58,850,911 (GRCm39) |
missense |
probably damaging |
0.99 |
R4928:Ecpas
|
UTSW |
4 |
58,827,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R5098:Ecpas
|
UTSW |
4 |
58,877,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R5284:Ecpas
|
UTSW |
4 |
58,836,172 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5375:Ecpas
|
UTSW |
4 |
58,809,401 (GRCm39) |
nonsense |
probably null |
|
R5382:Ecpas
|
UTSW |
4 |
58,850,934 (GRCm39) |
missense |
probably benign |
0.38 |
R5487:Ecpas
|
UTSW |
4 |
58,809,421 (GRCm39) |
missense |
probably benign |
0.22 |
R5703:Ecpas
|
UTSW |
4 |
58,877,171 (GRCm39) |
splice site |
probably null |
|
R5761:Ecpas
|
UTSW |
4 |
58,853,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R5791:Ecpas
|
UTSW |
4 |
58,822,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R5791:Ecpas
|
UTSW |
4 |
58,814,027 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5928:Ecpas
|
UTSW |
4 |
58,849,948 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6062:Ecpas
|
UTSW |
4 |
58,826,453 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6246:Ecpas
|
UTSW |
4 |
58,811,365 (GRCm39) |
splice site |
probably null |
|
R6298:Ecpas
|
UTSW |
4 |
58,877,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Ecpas
|
UTSW |
4 |
58,827,068 (GRCm39) |
missense |
probably benign |
0.34 |
R6478:Ecpas
|
UTSW |
4 |
58,810,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R6707:Ecpas
|
UTSW |
4 |
58,879,101 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6846:Ecpas
|
UTSW |
4 |
58,814,081 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6857:Ecpas
|
UTSW |
4 |
58,814,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R6951:Ecpas
|
UTSW |
4 |
58,853,114 (GRCm39) |
critical splice donor site |
probably null |
|
R7088:Ecpas
|
UTSW |
4 |
58,849,766 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7302:Ecpas
|
UTSW |
4 |
58,834,593 (GRCm39) |
missense |
probably benign |
0.43 |
R7337:Ecpas
|
UTSW |
4 |
58,827,047 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7341:Ecpas
|
UTSW |
4 |
58,809,415 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7344:Ecpas
|
UTSW |
4 |
58,824,770 (GRCm39) |
missense |
probably benign |
0.08 |
R7525:Ecpas
|
UTSW |
4 |
58,847,038 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7530:Ecpas
|
UTSW |
4 |
58,815,317 (GRCm39) |
missense |
probably damaging |
0.99 |
R7533:Ecpas
|
UTSW |
4 |
58,809,411 (GRCm39) |
missense |
probably benign |
0.12 |
R7557:Ecpas
|
UTSW |
4 |
58,849,691 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7698:Ecpas
|
UTSW |
4 |
58,832,660 (GRCm39) |
missense |
unknown |
|
R7793:Ecpas
|
UTSW |
4 |
58,853,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R7892:Ecpas
|
UTSW |
4 |
58,828,593 (GRCm39) |
missense |
probably benign |
|
R7894:Ecpas
|
UTSW |
4 |
58,853,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R7929:Ecpas
|
UTSW |
4 |
58,869,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R8010:Ecpas
|
UTSW |
4 |
58,832,681 (GRCm39) |
missense |
unknown |
|
R8082:Ecpas
|
UTSW |
4 |
58,807,852 (GRCm39) |
missense |
probably benign |
0.00 |
R8175:Ecpas
|
UTSW |
4 |
58,872,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R8191:Ecpas
|
UTSW |
4 |
58,872,587 (GRCm39) |
critical splice donor site |
probably null |
|
R8326:Ecpas
|
UTSW |
4 |
58,847,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R8459:Ecpas
|
UTSW |
4 |
58,821,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:Ecpas
|
UTSW |
4 |
58,834,515 (GRCm39) |
missense |
probably benign |
0.31 |
R8747:Ecpas
|
UTSW |
4 |
58,828,632 (GRCm39) |
missense |
probably damaging |
0.98 |
R8981:Ecpas
|
UTSW |
4 |
58,801,796 (GRCm39) |
missense |
probably benign |
|
R9206:Ecpas
|
UTSW |
4 |
58,875,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R9208:Ecpas
|
UTSW |
4 |
58,875,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Ecpas
|
UTSW |
4 |
58,875,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R9249:Ecpas
|
UTSW |
4 |
58,869,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R9355:Ecpas
|
UTSW |
4 |
58,844,114 (GRCm39) |
missense |
probably benign |
0.23 |
R9534:Ecpas
|
UTSW |
4 |
58,807,867 (GRCm39) |
missense |
probably benign |
|
R9555:Ecpas
|
UTSW |
4 |
58,879,083 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9570:Ecpas
|
UTSW |
4 |
58,832,796 (GRCm39) |
nonsense |
probably null |
|
R9673:Ecpas
|
UTSW |
4 |
58,822,060 (GRCm39) |
missense |
probably benign |
|
R9707:Ecpas
|
UTSW |
4 |
58,824,816 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9721:Ecpas
|
UTSW |
4 |
58,850,938 (GRCm39) |
missense |
probably benign |
0.39 |
X0060:Ecpas
|
UTSW |
4 |
58,840,752 (GRCm39) |
missense |
possibly damaging |
0.73 |
Z1177:Ecpas
|
UTSW |
4 |
58,861,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AATAGCAAGCCGAGTCTCCG -3'
(R):5'- GGATTGTCACAAACTCTGTCCTTATC -3'
Sequencing Primer
(F):5'- GAGTCTCCGGTTCTTCCTGTG -3'
(R):5'- GTAGCAAAACCTCTTACTATGACAG -3'
|
Posted On |
2014-06-30 |