Incidental Mutation 'R5857:Disp3'
| ID |
454947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp3
|
| Ensembl Gene |
ENSMUSG00000041544 |
| Gene Name |
dispatched RND transporter family member 3 |
| Synonyms |
G630052C06Rik, Ptchd2 |
| MMRRC Submission |
044069-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5857 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148324721-148372422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148333640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1066
(V1066D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047720]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047720
AA Change: V1066D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: V1066D
| 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 |
|
| Meta Mutation Damage Score |
0.1169 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (55/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,203,369 (GRCm39) |
I266V |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,039,736 (GRCm39) |
A492T |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,190,840 (GRCm39) |
C415S |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,976,651 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,065,397 (GRCm39) |
V4089A |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,342,405 (GRCm39) |
A229V |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 80,022,155 (GRCm39) |
F1447L |
probably benign |
Het |
| Btbd8 |
T |
A |
5: 107,609,398 (GRCm39) |
D212E |
probably damaging |
Het |
| Ccdc38 |
G |
T |
10: 93,398,695 (GRCm39) |
A58S |
possibly damaging |
Het |
| Cep112 |
T |
C |
11: 108,422,297 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,475,442 (GRCm39) |
G622D |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,578,740 (GRCm39) |
Q134L |
probably benign |
Het |
| Ctnnbl1 |
T |
C |
2: 157,631,018 (GRCm39) |
S145P |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,755,998 (GRCm39) |
L9Q |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,177,620 (GRCm39) |
I891S |
possibly damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,122,388 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,412,397 (GRCm39) |
C929S |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,483,239 (GRCm39) |
F82S |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,001,508 (GRCm39) |
S2* |
probably null |
Het |
| Gpr135 |
G |
A |
12: 72,117,614 (GRCm39) |
A51V |
probably benign |
Het |
| Hoxa9 |
T |
A |
6: 52,201,277 (GRCm39) |
N255Y |
probably damaging |
Het |
| Igkv8-18 |
T |
C |
6: 70,332,904 (GRCm39) |
V15A |
probably benign |
Het |
| Ism2 |
T |
C |
12: 87,326,835 (GRCm39) |
D368G |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,530 (GRCm39) |
S146T |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,114,838 (GRCm39) |
L2329H |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,741,107 (GRCm39) |
I507N |
probably damaging |
Het |
| Lmna |
GCTGCCCACAC |
GC |
3: 88,389,838 (GRCm39) |
|
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,058,863 (GRCm39) |
I454N |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,670,646 (GRCm39) |
T437K |
probably benign |
Het |
| Nat8f3 |
T |
C |
6: 85,738,735 (GRCm39) |
Y9C |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,799,920 (GRCm39) |
N82K |
probably benign |
Het |
| Nlrp4d |
C |
A |
7: 10,116,304 (GRCm39) |
G156V |
noncoding transcript |
Het |
| Npnt |
A |
T |
3: 132,614,110 (GRCm39) |
C167S |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,635,496 (GRCm39) |
N199S |
possibly damaging |
Het |
| Or10x4 |
T |
G |
1: 174,218,674 (GRCm39) |
I13R |
possibly damaging |
Het |
| Or8b12i |
C |
T |
9: 20,082,535 (GRCm39) |
D111N |
probably damaging |
Het |
| Or8b37 |
T |
G |
9: 37,959,049 (GRCm39) |
V177G |
probably benign |
Het |
| Pabpc1l |
T |
A |
2: 163,886,175 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,176,848 (GRCm39) |
I366T |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,824,684 (GRCm39) |
D50E |
probably damaging |
Het |
| Rad52 |
T |
G |
6: 119,887,968 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
T |
A |
5: 120,271,007 (GRCm39) |
L610Q |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Scube1 |
G |
T |
15: 83,491,461 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
G |
T |
7: 27,118,138 (GRCm39) |
R314S |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,042,331 (GRCm39) |
I1130K |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,818,981 (GRCm39) |
E1352G |
probably damaging |
Het |
| Ube2d2a |
A |
G |
18: 35,938,596 (GRCm39) |
T142A |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,128,014 (GRCm39) |
Y946H |
probably 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGACACTGTCAACTG -3'
(R):5'- GACAACTGCCCGATGTTTGC -3'
Sequencing Primer
(F):5'- GTCAACTGCTAACTATGACCTCGGG -3'
(R):5'- GTTTGCAAACACACTGGAAGCTTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation