Incidental Mutation 'IGL01947:Disp3'
ID |
181270 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Disp3
|
Ensembl Gene |
ENSMUSG00000041544 |
Gene Name |
dispatched RND transporter family member 3 |
Synonyms |
G630052C06Rik, Ptchd2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01947
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
148324721-148372422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 148344976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 472
(I472F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047720]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047720
AA Change: I472F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038490 Gene: ENSMUSG00000041544 AA Change: I472F
Domain | Start | End | E-Value | Type |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
low complexity region
|
159 |
171 |
N/A |
INTRINSIC |
low complexity region
|
179 |
195 |
N/A |
INTRINSIC |
Pfam:Patched
|
362 |
735 |
2.2e-21 |
PFAM |
Pfam:MMPL
|
366 |
590 |
3.1e-14 |
PFAM |
Pfam:Sterol-sensing
|
435 |
588 |
1.1e-17 |
PFAM |
Pfam:Patched
|
1121 |
1301 |
1.6e-7 |
PFAM |
transmembrane domain
|
1314 |
1333 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129734
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143851
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
C |
3: 151,216,428 (GRCm39) |
|
probably null |
Het |
Aloxe3 |
T |
A |
11: 69,033,847 (GRCm39) |
|
probably benign |
Het |
Atic |
C |
T |
1: 71,609,996 (GRCm39) |
|
probably benign |
Het |
Avpr1a |
T |
C |
10: 122,288,087 (GRCm39) |
V365A |
probably benign |
Het |
Brd7 |
A |
G |
8: 89,059,503 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,845,579 (GRCm39) |
N332D |
probably damaging |
Het |
Cdh20 |
C |
T |
1: 104,921,649 (GRCm39) |
P649S |
possibly damaging |
Het |
Cgnl1 |
T |
C |
9: 71,632,326 (GRCm39) |
T342A |
probably damaging |
Het |
Chst10 |
A |
G |
1: 38,904,646 (GRCm39) |
L349P |
probably damaging |
Het |
Cox6b2 |
T |
A |
7: 4,754,929 (GRCm39) |
K77* |
probably null |
Het |
Crnkl1 |
G |
A |
2: 145,763,744 (GRCm39) |
A498V |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,303,979 (GRCm39) |
L1394P |
probably benign |
Het |
Dapp1 |
T |
C |
3: 137,641,404 (GRCm39) |
Y197C |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,959,280 (GRCm39) |
I164T |
probably benign |
Het |
Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gpd1 |
A |
G |
15: 99,618,112 (GRCm39) |
I143V |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,608,643 (GRCm39) |
N1513I |
possibly damaging |
Het |
Jakmip2 |
T |
C |
18: 43,680,159 (GRCm39) |
I733V |
probably benign |
Het |
Klhl12 |
T |
A |
1: 134,391,689 (GRCm39) |
L107H |
probably damaging |
Het |
Lcn8 |
A |
G |
2: 25,545,157 (GRCm39) |
D109G |
probably damaging |
Het |
Maz |
A |
T |
7: 126,623,614 (GRCm39) |
|
probably null |
Het |
Mttp |
T |
A |
3: 137,812,890 (GRCm39) |
D595V |
probably damaging |
Het |
Mymk |
A |
C |
2: 26,956,406 (GRCm39) |
L58R |
possibly damaging |
Het |
Nckap1 |
A |
C |
2: 80,339,097 (GRCm39) |
I977S |
probably damaging |
Het |
Nckap1l |
A |
T |
15: 103,399,442 (GRCm39) |
I1021F |
probably benign |
Het |
Or12d2 |
A |
T |
17: 37,624,556 (GRCm39) |
C240S |
probably damaging |
Het |
Or4f14b |
A |
T |
2: 111,775,339 (GRCm39) |
M154K |
probably benign |
Het |
Or4f6 |
A |
T |
2: 111,839,361 (GRCm39) |
S57T |
possibly damaging |
Het |
Or6c38 |
G |
A |
10: 128,929,747 (GRCm39) |
T32I |
possibly damaging |
Het |
Pde5a |
T |
A |
3: 122,629,259 (GRCm39) |
F644L |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,592,440 (GRCm39) |
I68T |
probably damaging |
Het |
Pik3r4 |
T |
A |
9: 105,563,349 (GRCm39) |
V1242D |
possibly damaging |
Het |
Ppp6r2 |
G |
T |
15: 89,162,929 (GRCm39) |
W517L |
probably damaging |
Het |
Scrib |
A |
T |
15: 75,933,616 (GRCm39) |
I703K |
probably benign |
Het |
Serpina1b |
T |
C |
12: 103,695,576 (GRCm39) |
S322G |
probably benign |
Het |
Siglecg |
C |
A |
7: 43,058,187 (GRCm39) |
Q25K |
probably benign |
Het |
Slc12a3 |
G |
A |
8: 95,092,447 (GRCm39) |
|
probably null |
Het |
Slc6a13 |
G |
T |
6: 121,302,116 (GRCm39) |
|
probably null |
Het |
Stard13 |
A |
T |
5: 150,986,309 (GRCm39) |
D282E |
probably damaging |
Het |
Tpte |
A |
T |
8: 22,845,489 (GRCm39) |
Y513F |
possibly damaging |
Het |
Ubox5 |
T |
A |
2: 130,442,579 (GRCm39) |
K36I |
possibly damaging |
Het |
|
Other mutations in Disp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Disp3
|
APN |
4 |
148,325,991 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01065:Disp3
|
APN |
4 |
148,345,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01800:Disp3
|
APN |
4 |
148,334,258 (GRCm39) |
nonsense |
probably null |
|
IGL02510:Disp3
|
APN |
4 |
148,337,158 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02573:Disp3
|
APN |
4 |
148,355,906 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02728:Disp3
|
APN |
4 |
148,356,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02931:Disp3
|
APN |
4 |
148,333,658 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0164:Disp3
|
UTSW |
4 |
148,338,708 (GRCm39) |
missense |
probably damaging |
0.96 |
R0164:Disp3
|
UTSW |
4 |
148,338,708 (GRCm39) |
missense |
probably damaging |
0.96 |
R0257:Disp3
|
UTSW |
4 |
148,335,211 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0409:Disp3
|
UTSW |
4 |
148,356,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R0557:Disp3
|
UTSW |
4 |
148,325,861 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0576:Disp3
|
UTSW |
4 |
148,326,047 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1495:Disp3
|
UTSW |
4 |
148,334,282 (GRCm39) |
missense |
probably benign |
0.00 |
R1526:Disp3
|
UTSW |
4 |
148,344,373 (GRCm39) |
missense |
probably benign |
0.00 |
R1791:Disp3
|
UTSW |
4 |
148,325,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R1856:Disp3
|
UTSW |
4 |
148,356,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R1987:Disp3
|
UTSW |
4 |
148,343,210 (GRCm39) |
missense |
probably damaging |
0.97 |
R2030:Disp3
|
UTSW |
4 |
148,344,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Disp3
|
UTSW |
4 |
148,356,059 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2373:Disp3
|
UTSW |
4 |
148,343,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:Disp3
|
UTSW |
4 |
148,325,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R3731:Disp3
|
UTSW |
4 |
148,337,284 (GRCm39) |
missense |
probably benign |
0.03 |
R4359:Disp3
|
UTSW |
4 |
148,356,389 (GRCm39) |
missense |
probably benign |
0.03 |
R4762:Disp3
|
UTSW |
4 |
148,356,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R4950:Disp3
|
UTSW |
4 |
148,342,583 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4975:Disp3
|
UTSW |
4 |
148,328,673 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5218:Disp3
|
UTSW |
4 |
148,327,333 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5523:Disp3
|
UTSW |
4 |
148,342,554 (GRCm39) |
missense |
probably benign |
0.14 |
R5556:Disp3
|
UTSW |
4 |
148,342,614 (GRCm39) |
missense |
probably benign |
0.14 |
R5857:Disp3
|
UTSW |
4 |
148,333,640 (GRCm39) |
missense |
probably benign |
0.01 |
R5933:Disp3
|
UTSW |
4 |
148,325,770 (GRCm39) |
nonsense |
probably null |
|
R5994:Disp3
|
UTSW |
4 |
148,338,741 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6362:Disp3
|
UTSW |
4 |
148,338,765 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6813:Disp3
|
UTSW |
4 |
148,344,387 (GRCm39) |
missense |
probably benign |
0.09 |
R7211:Disp3
|
UTSW |
4 |
148,325,979 (GRCm39) |
missense |
probably damaging |
0.98 |
R7470:Disp3
|
UTSW |
4 |
148,345,527 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7535:Disp3
|
UTSW |
4 |
148,327,323 (GRCm39) |
missense |
probably damaging |
0.99 |
R8093:Disp3
|
UTSW |
4 |
148,354,973 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8357:Disp3
|
UTSW |
4 |
148,345,572 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8457:Disp3
|
UTSW |
4 |
148,345,572 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8506:Disp3
|
UTSW |
4 |
148,326,027 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9182:Disp3
|
UTSW |
4 |
148,354,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R9219:Disp3
|
UTSW |
4 |
148,334,317 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9680:Disp3
|
UTSW |
4 |
148,356,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R9696:Disp3
|
UTSW |
4 |
148,345,611 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1088:Disp3
|
UTSW |
4 |
148,356,200 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1176:Disp3
|
UTSW |
4 |
148,335,414 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Disp3
|
UTSW |
4 |
148,335,171 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Disp3
|
UTSW |
4 |
148,334,304 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Disp3
|
UTSW |
4 |
148,334,203 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Disp3
|
UTSW |
4 |
148,355,024 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2014-05-07 |