Incidental Mutation 'R1467:Ecpas'
ID |
197588 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ecpas
|
Ensembl Gene |
ENSMUSG00000050812 |
Gene Name |
Ecm29 proteasome adaptor and scaffold |
Synonyms |
AI314180 |
MMRRC Submission |
039520-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.366)
|
Stock # |
R1467 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
58798911-58912749 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58832753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 869
(V869A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102889]
[ENSMUST00000107557]
[ENSMUST00000149301]
|
AlphaFold |
Q6PDI5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102889
AA Change: V869A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099953 Gene: ENSMUSG00000050812 AA Change: V869A
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 |
probably benign
Transcript: ENSMUST00000107557
AA Change: V869A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103182 Gene: ENSMUSG00000050812 AA Change: V869A
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 |
noncoding transcript
Transcript: ENSMUST00000135601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142102
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149301
AA Change: V869A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117585 Gene: ENSMUSG00000050812 AA Change: V869A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151869
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.1%
- 10x: 95.9%
- 20x: 94.1%
|
Validation Efficiency |
99% (104/105) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 114 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930430O22Rik |
T |
C |
5: 115,574,234 (GRCm39) |
|
probably benign |
Het |
A630010A05Rik |
C |
A |
16: 14,436,447 (GRCm39) |
L167I |
possibly damaging |
Het |
Abca14 |
A |
T |
7: 119,815,405 (GRCm39) |
M218L |
possibly damaging |
Het |
Abca15 |
C |
A |
7: 119,939,761 (GRCm39) |
|
probably null |
Het |
Acod1 |
T |
C |
14: 103,292,003 (GRCm39) |
F176L |
probably benign |
Het |
Actr5 |
A |
G |
2: 158,480,617 (GRCm39) |
H545R |
probably benign |
Het |
Adcy1 |
A |
G |
11: 7,088,396 (GRCm39) |
T472A |
probably damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,548,910 (GRCm39) |
K469R |
possibly damaging |
Het |
Ambra1 |
A |
T |
2: 91,716,048 (GRCm39) |
Q853L |
probably damaging |
Het |
Apol7e |
G |
T |
15: 77,601,966 (GRCm39) |
G188V |
probably damaging |
Het |
Atg7 |
T |
A |
6: 114,835,943 (GRCm39) |
|
probably benign |
Het |
AU018091 |
A |
T |
7: 3,214,089 (GRCm39) |
W43R |
probably benign |
Het |
Baat |
A |
G |
4: 49,503,101 (GRCm39) |
V7A |
probably benign |
Het |
Bcas1 |
C |
A |
2: 170,229,852 (GRCm39) |
Q249H |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 37,090,094 (GRCm39) |
V676D |
probably damaging |
Het |
Bptf |
G |
T |
11: 106,945,881 (GRCm39) |
Q2453K |
possibly damaging |
Het |
Brca1 |
A |
T |
11: 101,421,933 (GRCm39) |
|
probably benign |
Het |
Btg3 |
A |
G |
16: 78,161,688 (GRCm39) |
|
probably null |
Het |
CAAA01180111.1 |
C |
A |
9: 124,058,093 (GRCm39) |
V9L |
possibly damaging |
Het |
Cacna2d3 |
T |
C |
14: 29,055,736 (GRCm39) |
N298S |
possibly damaging |
Het |
Carf |
G |
A |
1: 60,167,152 (GRCm39) |
V127I |
possibly damaging |
Het |
Catsperg1 |
T |
C |
7: 28,884,433 (GRCm39) |
S916G |
probably damaging |
Het |
Cers1 |
T |
C |
8: 70,775,819 (GRCm39) |
S274P |
possibly damaging |
Het |
Ces4a |
T |
A |
8: 105,864,667 (GRCm39) |
V48E |
possibly damaging |
Het |
Cfap54 |
T |
A |
10: 92,805,625 (GRCm39) |
H1495L |
probably benign |
Het |
Clec4e |
G |
A |
6: 123,262,420 (GRCm39) |
|
probably benign |
Het |
Cntnap5a |
T |
A |
1: 115,612,898 (GRCm39) |
L11* |
probably null |
Het |
Cr2 |
C |
T |
1: 194,839,817 (GRCm39) |
G913R |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,836,299 (GRCm39) |
L1155P |
probably damaging |
Het |
D130052B06Rik |
C |
T |
11: 33,573,622 (GRCm39) |
|
probably benign |
Het |
Dlec1 |
G |
A |
9: 118,957,071 (GRCm39) |
|
probably benign |
Het |
Dlec1 |
A |
T |
9: 118,971,646 (GRCm39) |
D1278V |
probably damaging |
Het |
Dmrt2 |
A |
G |
19: 25,650,970 (GRCm39) |
E52G |
possibly damaging |
Het |
Dsp |
A |
G |
13: 38,376,688 (GRCm39) |
K1491R |
probably benign |
Het |
Eef1d |
A |
T |
15: 75,767,770 (GRCm39) |
D206E |
probably damaging |
Het |
Erbb2 |
C |
T |
11: 98,327,001 (GRCm39) |
Q1137* |
probably null |
Het |
Ercc2 |
T |
A |
7: 19,119,811 (GRCm39) |
D157E |
probably benign |
Het |
Eri1 |
A |
G |
8: 35,936,284 (GRCm39) |
*346Q |
probably null |
Het |
Espl1 |
A |
G |
15: 102,228,293 (GRCm39) |
E1689G |
probably benign |
Het |
Fap |
C |
T |
2: 62,347,964 (GRCm39) |
V539I |
probably benign |
Het |
Fasn |
A |
G |
11: 120,701,866 (GRCm39) |
F1871S |
probably benign |
Het |
Gabpb1 |
T |
G |
2: 126,494,247 (GRCm39) |
Y126S |
probably damaging |
Het |
Ganc |
A |
T |
2: 120,261,409 (GRCm39) |
|
probably benign |
Het |
Gm9839 |
T |
A |
1: 32,559,594 (GRCm39) |
R163* |
probably null |
Het |
Grm1 |
T |
C |
10: 10,595,702 (GRCm39) |
Y642C |
probably damaging |
Het |
Heatr4 |
T |
C |
12: 84,024,841 (GRCm39) |
T327A |
possibly damaging |
Het |
Hmbox1 |
T |
C |
14: 65,099,027 (GRCm39) |
D212G |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,565,341 (GRCm39) |
D2262V |
probably damaging |
Het |
Hoxb9 |
A |
G |
11: 96,162,764 (GRCm39) |
T133A |
probably benign |
Het |
Insr |
A |
T |
8: 3,219,720 (GRCm39) |
V934E |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,334,281 (GRCm39) |
E315G |
possibly damaging |
Het |
Itga10 |
C |
T |
3: 96,559,545 (GRCm39) |
Q481* |
probably null |
Het |
Kifap3 |
T |
C |
1: 163,656,689 (GRCm39) |
|
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,925,047 (GRCm39) |
M1120K |
probably benign |
Het |
Krt78 |
A |
G |
15: 101,854,728 (GRCm39) |
Y1028H |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,547,368 (GRCm39) |
|
probably benign |
Het |
Lrrc38 |
A |
T |
4: 143,096,450 (GRCm39) |
I254F |
probably damaging |
Het |
Lyrm7 |
A |
G |
11: 54,741,215 (GRCm39) |
F40L |
probably damaging |
Het |
Mfsd4b1 |
C |
T |
10: 39,878,631 (GRCm39) |
S422N |
possibly damaging |
Het |
Mlh3 |
A |
T |
12: 85,284,374 (GRCm39) |
L1380* |
probably null |
Het |
Mrpl24 |
C |
A |
3: 87,829,744 (GRCm39) |
A110D |
probably benign |
Het |
Mrps14 |
T |
C |
1: 160,024,520 (GRCm39) |
V17A |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,755,322 (GRCm39) |
D340G |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,702,068 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,120,059 (GRCm39) |
Y3900C |
probably damaging |
Het |
Neurod4 |
T |
C |
10: 130,106,473 (GRCm39) |
D267G |
probably benign |
Het |
Nf1 |
A |
T |
11: 79,319,452 (GRCm39) |
I536F |
possibly damaging |
Het |
Nkg7 |
C |
T |
7: 43,086,857 (GRCm39) |
P44S |
probably damaging |
Het |
Or14c40 |
T |
C |
7: 86,313,185 (GRCm39) |
V105A |
possibly damaging |
Het |
Or4a67 |
T |
C |
2: 88,597,832 (GRCm39) |
I276V |
probably benign |
Het |
P3h2 |
A |
T |
16: 25,784,618 (GRCm39) |
|
probably benign |
Het |
P4ha2 |
A |
G |
11: 53,997,236 (GRCm39) |
|
probably benign |
Het |
Pcif1 |
T |
C |
2: 164,731,058 (GRCm39) |
Y404H |
probably benign |
Het |
Pcnx2 |
A |
T |
8: 126,480,289 (GRCm39) |
L2006Q |
possibly damaging |
Het |
Pcnx3 |
A |
T |
19: 5,724,922 (GRCm39) |
S821T |
possibly damaging |
Het |
Pde8b |
T |
A |
13: 95,170,680 (GRCm39) |
D662V |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,343,000 (GRCm39) |
P113S |
unknown |
Het |
Pkd2l1 |
G |
T |
19: 44,142,648 (GRCm39) |
Q465K |
possibly damaging |
Het |
Plch2 |
G |
T |
4: 155,068,189 (GRCm39) |
P1479Q |
probably benign |
Het |
Plekhm3 |
A |
T |
1: 64,932,041 (GRCm39) |
I521N |
probably damaging |
Het |
Pola2 |
A |
T |
19: 5,992,093 (GRCm39) |
Y526* |
probably null |
Het |
Prdm14 |
C |
A |
1: 13,194,756 (GRCm39) |
|
probably benign |
Het |
Prss23 |
T |
C |
7: 89,159,217 (GRCm39) |
D284G |
probably damaging |
Het |
Psme2b |
A |
G |
11: 48,836,467 (GRCm39) |
F160S |
probably damaging |
Het |
Rap1gap2 |
A |
G |
11: 74,327,853 (GRCm39) |
V139A |
possibly damaging |
Het |
Rbbp9 |
G |
T |
2: 144,385,777 (GRCm39) |
R163S |
possibly damaging |
Het |
Rdh12 |
T |
C |
12: 79,260,522 (GRCm39) |
L206P |
probably damaging |
Het |
Rhou |
T |
C |
8: 124,388,029 (GRCm39) |
W254R |
possibly damaging |
Het |
Ryr3 |
G |
T |
2: 112,583,347 (GRCm39) |
|
probably benign |
Het |
Scfd1 |
A |
G |
12: 51,478,281 (GRCm39) |
K498E |
possibly damaging |
Het |
Scn7a |
A |
G |
2: 66,519,902 (GRCm39) |
Y1001H |
probably benign |
Het |
Setx |
T |
A |
2: 29,048,917 (GRCm39) |
V1981E |
probably damaging |
Het |
Sfxn1 |
T |
C |
13: 54,247,890 (GRCm39) |
I205T |
possibly damaging |
Het |
Shld2 |
G |
T |
14: 33,990,619 (GRCm39) |
H96N |
possibly damaging |
Het |
Slc5a2 |
T |
C |
7: 127,870,428 (GRCm39) |
|
probably benign |
Het |
Speer1g |
C |
T |
5: 11,180,337 (GRCm39) |
H82Y |
probably damaging |
Het |
Spock1 |
G |
A |
13: 57,577,182 (GRCm39) |
R416C |
possibly damaging |
Het |
Spred2 |
A |
G |
11: 19,968,109 (GRCm39) |
I222V |
probably benign |
Het |
Stkld1 |
A |
T |
2: 26,839,407 (GRCm39) |
T358S |
probably benign |
Het |
Strip1 |
T |
C |
3: 107,534,724 (GRCm39) |
E102G |
possibly damaging |
Het |
Tars3 |
T |
C |
7: 65,305,444 (GRCm39) |
S223P |
probably damaging |
Het |
Tdpoz1 |
T |
A |
3: 93,578,637 (GRCm39) |
E49V |
probably benign |
Het |
Tert |
A |
G |
13: 73,776,328 (GRCm39) |
T360A |
probably benign |
Het |
Tspear |
A |
G |
10: 77,717,026 (GRCm39) |
Y567C |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,433,254 (GRCm39) |
Q2096R |
probably benign |
Het |
Ttll5 |
A |
G |
12: 85,965,736 (GRCm39) |
|
probably null |
Het |
Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,790,028 (GRCm39) |
H326L |
probably damaging |
Het |
Vmn2r18 |
A |
G |
5: 151,510,301 (GRCm39) |
F24S |
possibly damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,232,133 (GRCm39) |
I711F |
probably benign |
Het |
Vwa8 |
C |
T |
14: 79,341,134 (GRCm39) |
Q1537* |
probably null |
Het |
Wdr64 |
G |
A |
1: 175,603,288 (GRCm39) |
V630I |
probably benign |
Het |
Wnt6 |
G |
T |
1: 74,821,434 (GRCm39) |
W84L |
probably damaging |
Het |
Zfp11 |
C |
A |
5: 129,735,254 (GRCm39) |
R69L |
probably benign |
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 |
|
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 |
|
R1864:Ecpas
|
UTSW |
4 |
58,849,942 (GRCm39) |
missense |
possibly damaging |
0.62 |
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'- CGGCGGCAGCAGCGAAATTA -3'
(R):5'- AGCATAGGCATCAGTATATGAGGCAGAT -3'
Sequencing Primer
(F):5'- accctgactaagacaagcac -3'
(R):5'- AGGCAGATTGTCTCTTCCTG -3'
|
Posted On |
2014-05-23 |