Incidental Mutation 'R1771:Ecpas'
ID |
196562 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ecpas
|
Ensembl Gene |
ENSMUSG00000050812 |
Gene Name |
Ecm29 proteasome adaptor and scaffold |
Synonyms |
AI314180 |
MMRRC Submission |
039802-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.352)
|
Stock # |
R1771 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
58798911-58912749 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58879100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 63
(I63T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055822]
[ENSMUST00000102889]
[ENSMUST00000107557]
[ENSMUST00000134848]
[ENSMUST00000144512]
[ENSMUST00000149301]
|
AlphaFold |
Q6PDI5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055822
AA Change: I63T
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000061113 Gene: ENSMUSG00000050812 AA Change: I63T
Domain | Start | End | E-Value | Type |
Pfam:Ecm29
|
10 |
359 |
2.5e-110 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102889
AA Change: I63T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099953 Gene: ENSMUSG00000050812 AA Change: I63T
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 damaging
Transcript: ENSMUST00000107557
AA Change: I63T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103182 Gene: ENSMUSG00000050812 AA Change: I63T
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 |
possibly damaging
Transcript: ENSMUST00000134848
AA Change: I67T
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114715 Gene: ENSMUSG00000050812 AA Change: I67T
Domain | Start | End | E-Value | Type |
Pfam:Ecm29
|
14 |
246 |
1.4e-76 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144512
AA Change: I63T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118103 Gene: ENSMUSG00000050812 AA Change: I63T
Domain | Start | End | E-Value | Type |
Pfam:Ecm29
|
10 |
517 |
2.3e-164 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149301
AA Change: I63T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117585 Gene: ENSMUSG00000050812 AA Change: I63T
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 |
|
Meta Mutation Damage Score |
0.5904 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
A |
G |
10: 106,773,061 (GRCm39) |
S642P |
probably damaging |
Het |
Adam30 |
T |
C |
3: 98,068,835 (GRCm39) |
S95P |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,991,117 (GRCm39) |
V4134I |
probably benign |
Het |
Ankrd13a |
T |
C |
5: 114,941,649 (GRCm39) |
V512A |
probably benign |
Het |
Asph |
A |
T |
4: 9,598,773 (GRCm39) |
S149R |
probably damaging |
Het |
Atp2b4 |
C |
A |
1: 133,660,131 (GRCm39) |
V384L |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,805,074 (GRCm39) |
W1014R |
probably damaging |
Het |
Cand1 |
A |
C |
10: 119,044,211 (GRCm39) |
N1054K |
probably benign |
Het |
Car15 |
A |
T |
16: 17,654,730 (GRCm39) |
V96E |
probably damaging |
Het |
Cd1d1 |
T |
C |
3: 86,905,972 (GRCm39) |
E101G |
possibly damaging |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,469 (GRCm39) |
T332S |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,787,171 (GRCm39) |
V500E |
probably benign |
Het |
Cul9 |
A |
T |
17: 46,848,738 (GRCm39) |
M666K |
probably benign |
Het |
Dennd3 |
A |
G |
15: 73,426,950 (GRCm39) |
T776A |
possibly damaging |
Het |
Dennd5a |
T |
C |
7: 109,517,893 (GRCm39) |
D581G |
probably damaging |
Het |
Dgkh |
A |
G |
14: 78,846,967 (GRCm39) |
V371A |
probably damaging |
Het |
Dhcr24 |
A |
G |
4: 106,435,450 (GRCm39) |
T314A |
probably benign |
Het |
Diaph1 |
G |
T |
18: 38,024,071 (GRCm39) |
P589Q |
unknown |
Het |
Disp2 |
C |
T |
2: 118,621,778 (GRCm39) |
Q837* |
probably null |
Het |
Dusp3 |
A |
T |
11: 101,875,561 (GRCm39) |
M1K |
probably null |
Het |
Eddm13 |
G |
T |
7: 6,280,541 (GRCm39) |
|
probably null |
Het |
Erich3 |
A |
C |
3: 154,454,109 (GRCm39) |
D625A |
possibly damaging |
Het |
Fat2 |
G |
A |
11: 55,201,691 (GRCm39) |
S461L |
probably benign |
Het |
Fmn2 |
A |
G |
1: 174,436,342 (GRCm39) |
|
probably benign |
Het |
Foxi1 |
A |
G |
11: 34,157,594 (GRCm39) |
Y144H |
probably damaging |
Het |
Ftcd |
G |
A |
10: 76,423,202 (GRCm39) |
V458M |
probably damaging |
Het |
Gm3604 |
C |
A |
13: 62,517,888 (GRCm39) |
G157* |
probably null |
Het |
Gnpda1 |
C |
T |
18: 38,466,380 (GRCm39) |
R79Q |
probably benign |
Het |
Gpr65 |
T |
A |
12: 98,242,259 (GRCm39) |
I304K |
probably damaging |
Het |
Grem1 |
T |
C |
2: 113,580,021 (GRCm39) |
E160G |
probably benign |
Het |
Gria2 |
T |
A |
3: 80,599,608 (GRCm39) |
K759* |
probably null |
Het |
Gsg1l |
A |
G |
7: 125,557,745 (GRCm39) |
S128P |
probably damaging |
Het |
Hdac1 |
A |
T |
4: 129,415,221 (GRCm39) |
I240N |
probably damaging |
Het |
Hic2 |
C |
T |
16: 17,076,578 (GRCm39) |
T469M |
probably benign |
Het |
Hoxc10 |
A |
C |
15: 102,875,522 (GRCm39) |
D77A |
probably damaging |
Het |
Itprid1 |
T |
C |
6: 55,875,132 (GRCm39) |
S361P |
probably benign |
Het |
Klhl14 |
T |
A |
18: 21,784,677 (GRCm39) |
H250L |
probably damaging |
Het |
Klk1b24 |
A |
G |
7: 43,837,653 (GRCm39) |
|
probably null |
Het |
Letm1 |
T |
A |
5: 33,926,811 (GRCm39) |
H162L |
probably damaging |
Het |
Loxl3 |
A |
T |
6: 83,026,890 (GRCm39) |
Y573F |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,405,901 (GRCm39) |
I330N |
probably damaging |
Het |
Mchr1 |
T |
A |
15: 81,121,436 (GRCm39) |
I62N |
probably damaging |
Het |
Mcm8 |
C |
T |
2: 132,685,476 (GRCm39) |
Q803* |
probably null |
Het |
Msh3 |
T |
G |
13: 92,349,004 (GRCm39) |
D1075A |
probably benign |
Het |
Msh6 |
T |
A |
17: 88,291,950 (GRCm39) |
V235D |
probably benign |
Het |
Mthfd2l |
A |
T |
5: 91,122,254 (GRCm39) |
D253V |
probably damaging |
Het |
Mtor |
T |
C |
4: 148,555,081 (GRCm39) |
V901A |
possibly damaging |
Het |
Muc20 |
A |
T |
16: 32,614,222 (GRCm39) |
I385N |
probably damaging |
Het |
Myo6 |
G |
T |
9: 80,193,082 (GRCm39) |
C829F |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,841,940 (GRCm39) |
I1914V |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,217,938 (GRCm39) |
E1462G |
probably damaging |
Het |
Necab1 |
A |
G |
4: 15,111,267 (GRCm39) |
Y54H |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,452,520 (GRCm39) |
K15R |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,696,937 (GRCm39) |
S139P |
probably benign |
Het |
Oas1d |
T |
C |
5: 121,053,900 (GRCm39) |
F120S |
probably damaging |
Het |
Ofd1 |
A |
G |
X: 165,189,002 (GRCm39) |
Y755H |
probably benign |
Het |
Or10al2 |
A |
G |
17: 37,983,554 (GRCm39) |
I213M |
probably damaging |
Het |
Or13a25 |
A |
G |
7: 140,248,048 (GRCm39) |
T276A |
probably benign |
Het |
Or4f47 |
T |
G |
2: 111,973,065 (GRCm39) |
Y258* |
probably null |
Het |
Or5c1 |
T |
A |
2: 37,222,430 (GRCm39) |
F224I |
probably benign |
Het |
Or5p58 |
A |
C |
7: 107,694,816 (GRCm39) |
|
probably null |
Het |
Or9s27 |
A |
G |
1: 92,516,837 (GRCm39) |
I262V |
probably benign |
Het |
Plekha6 |
T |
C |
1: 133,201,651 (GRCm39) |
S355P |
probably benign |
Het |
Prdm14 |
T |
C |
1: 13,189,082 (GRCm39) |
K421E |
probably damaging |
Het |
Prss36 |
A |
G |
7: 127,532,625 (GRCm39) |
L731P |
probably damaging |
Het |
Rad51d |
A |
G |
11: 82,774,764 (GRCm39) |
L97P |
probably damaging |
Het |
Rbl1 |
C |
A |
2: 157,005,454 (GRCm39) |
|
probably null |
Het |
Rnh1 |
G |
T |
7: 140,744,519 (GRCm39) |
A52D |
possibly damaging |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Ryr2 |
A |
C |
13: 11,760,062 (GRCm39) |
|
probably null |
Het |
Samd4 |
A |
T |
14: 47,326,532 (GRCm39) |
N454I |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,769,135 (GRCm39) |
I32T |
probably benign |
Het |
Sap30l |
A |
T |
11: 57,696,925 (GRCm39) |
N85I |
probably damaging |
Het |
Sbf2 |
G |
A |
7: 110,060,353 (GRCm39) |
Q204* |
probably null |
Het |
Slc45a3 |
T |
C |
1: 131,904,694 (GRCm39) |
W6R |
possibly damaging |
Het |
Snx16 |
A |
G |
3: 10,484,221 (GRCm39) |
V334A |
probably damaging |
Het |
Soat1 |
C |
T |
1: 156,269,991 (GRCm39) |
V143I |
probably benign |
Het |
Sp8 |
T |
A |
12: 118,813,302 (GRCm39) |
F386I |
probably damaging |
Het |
Spag6 |
C |
T |
2: 18,738,928 (GRCm39) |
S286L |
probably benign |
Het |
Srpra |
A |
T |
9: 35,124,147 (GRCm39) |
N31I |
possibly damaging |
Het |
Ssbp4 |
A |
G |
8: 71,051,502 (GRCm39) |
|
probably null |
Het |
Stxbp2 |
G |
T |
8: 3,684,064 (GRCm39) |
A124S |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,343,970 (GRCm39) |
K700R |
probably damaging |
Het |
Tatdn2 |
A |
T |
6: 113,679,060 (GRCm39) |
|
probably null |
Het |
Tecrl |
G |
A |
5: 83,439,134 (GRCm39) |
T226I |
probably damaging |
Het |
Timeless |
T |
G |
10: 128,083,477 (GRCm39) |
V702G |
probably benign |
Het |
Tjp1 |
A |
T |
7: 64,962,753 (GRCm39) |
S1061R |
probably benign |
Het |
Tmem39b |
A |
T |
4: 129,587,011 (GRCm39) |
C67S |
probably damaging |
Het |
Tstd3 |
T |
C |
4: 21,759,475 (GRCm39) |
Y99C |
probably damaging |
Het |
Ttc39c |
T |
A |
18: 12,817,881 (GRCm39) |
|
probably null |
Het |
Ttll7 |
C |
T |
3: 146,600,160 (GRCm39) |
P23S |
probably benign |
Het |
Uba5 |
A |
G |
9: 103,927,107 (GRCm39) |
F290S |
probably damaging |
Het |
Ubap2l |
T |
C |
3: 89,926,538 (GRCm39) |
Y623C |
probably damaging |
Het |
Ube3a |
A |
G |
7: 58,925,714 (GRCm39) |
E164G |
probably damaging |
Het |
Ugcg |
A |
G |
4: 59,207,775 (GRCm39) |
N38S |
probably benign |
Het |
Ugp2 |
G |
A |
11: 21,279,915 (GRCm39) |
T283I |
probably damaging |
Het |
Vmn1r55 |
A |
T |
7: 5,149,919 (GRCm39) |
I168N |
probably benign |
Het |
Wdr27 |
A |
C |
17: 15,112,703 (GRCm39) |
S668A |
probably damaging |
Het |
Wnt2 |
T |
A |
6: 18,008,696 (GRCm39) |
N247I |
probably damaging |
Het |
Zfp850 |
A |
T |
7: 27,684,700 (GRCm39) |
C15* |
probably null |
Het |
Zfp959 |
A |
G |
17: 56,204,677 (GRCm39) |
|
probably null |
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 |
|
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'- GGCATCAACTAAACACTGAGAAGACTGA -3'
(R):5'- AGGTCCAGTTCCTTTTCTGAAACCAATT -3'
Sequencing Primer
(F):5'- TGAGAAGACTGACGTAAACCC -3'
(R):5'- GGCCAACCAAGTATATCTAGAGACAG -3'
|
Posted On |
2014-05-23 |