Incidental Mutation 'R8357:Disp3'
ID |
645811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp3
|
Ensembl Gene |
ENSMUSG00000041544 |
Gene Name |
dispatched RND transporter family member 3 |
Synonyms |
G630052C06Rik, Ptchd2 |
MMRRC Submission |
067807-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8357 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
148324721-148372422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 148345572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 423
(I423F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047720]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047720
AA Change: I423F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038490 Gene: ENSMUSG00000041544 AA Change: I423F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
A |
11: 46,030,939 (GRCm39) |
L813Q |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,066 (GRCm39) |
N961S |
probably damaging |
Het |
Arhgap42 |
A |
T |
9: 9,016,221 (GRCm39) |
S403T |
probably benign |
Het |
Cdkl1 |
T |
C |
12: 69,794,112 (GRCm39) |
T342A |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,096,985 (GRCm39) |
E1497G |
probably damaging |
Het |
Cldn11 |
T |
C |
3: 31,217,342 (GRCm39) |
V170A |
probably benign |
Het |
Cps1 |
T |
A |
1: 67,196,013 (GRCm39) |
F291I |
probably damaging |
Het |
Cpsf2 |
T |
A |
12: 101,968,929 (GRCm39) |
S722T |
probably damaging |
Het |
Creld1 |
T |
C |
6: 113,468,699 (GRCm39) |
|
probably null |
Het |
Dgki |
T |
A |
6: 36,827,891 (GRCm39) |
E1002V |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,165,227 (GRCm39) |
V1601A |
probably benign |
Het |
E4f1 |
G |
A |
17: 24,665,501 (GRCm39) |
A347V |
probably benign |
Het |
Ehmt2 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
17: 35,124,137 (GRCm39) |
|
probably benign |
Het |
Epb41l1 |
G |
A |
2: 156,367,171 (GRCm39) |
R680Q |
probably benign |
Het |
Fcrl5 |
T |
G |
3: 87,351,567 (GRCm39) |
S272A |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,252,133 (GRCm39) |
D572V |
probably benign |
Het |
Gm21903 |
A |
T |
17: 39,354,211 (GRCm39) |
F8I |
unknown |
Het |
Grin2b |
A |
G |
6: 135,709,197 (GRCm39) |
S1450P |
probably benign |
Het |
Icos |
C |
A |
1: 61,033,015 (GRCm39) |
S71R |
probably damaging |
Het |
Ighv1-13 |
T |
A |
12: 114,594,452 (GRCm39) |
N51K |
unknown |
Het |
Ighv1-37 |
C |
T |
12: 114,860,245 (GRCm39) |
|
probably benign |
Het |
Il36g |
A |
G |
2: 24,078,661 (GRCm39) |
Y87C |
probably benign |
Het |
Irf7 |
T |
C |
7: 140,843,194 (GRCm39) |
N440D |
possibly damaging |
Het |
Ivns1abp |
T |
A |
1: 151,229,761 (GRCm39) |
L150M |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,553,828 (GRCm39) |
I990T |
probably damaging |
Het |
Kif23 |
A |
G |
9: 61,834,317 (GRCm39) |
|
probably null |
Het |
Lca5l |
T |
G |
16: 95,960,908 (GRCm39) |
K523T |
possibly damaging |
Het |
Mast3 |
A |
G |
8: 71,233,085 (GRCm39) |
F1076L |
probably benign |
Het |
Nek11 |
A |
T |
9: 105,225,191 (GRCm39) |
I107N |
probably damaging |
Het |
Nlrp12 |
T |
C |
7: 3,289,435 (GRCm39) |
H359R |
probably damaging |
Het |
Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
Or10q12 |
A |
T |
19: 13,745,721 (GRCm39) |
N5I |
probably benign |
Het |
Or8g36 |
A |
C |
9: 39,422,442 (GRCm39) |
N191K |
probably benign |
Het |
Rnf10 |
C |
A |
5: 115,410,320 (GRCm39) |
K51N |
possibly damaging |
Het |
Scap |
G |
A |
9: 110,210,354 (GRCm39) |
G921D |
probably benign |
Het |
Tk2 |
A |
T |
8: 104,963,450 (GRCm39) |
S140T |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,084,243 (GRCm39) |
Y249C |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,923,352 (GRCm39) |
S276R |
probably damaging |
Het |
Ugt1a7c |
T |
C |
1: 88,023,078 (GRCm39) |
V79A |
probably benign |
Het |
Zfp410 |
T |
C |
12: 84,374,086 (GRCm39) |
V141A |
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 |
|
IGL01947:Disp3
|
APN |
4 |
148,344,976 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATTTGGCCCAGCTCTAAGG -3'
(R):5'- GGCTGATTGTCGCTGATTACTATC -3'
Sequencing Primer
(F):5'- TCTAAGGAACCAGATTCAGGGCTATC -3'
(R):5'- TACACGTTGAATCACCTGGG -3'
|
Posted On |
2020-09-02 |