Incidental Mutation 'R1526:Disp3'
| ID |
167421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp3
|
| Ensembl Gene |
ENSMUSG00000041544 |
| Gene Name |
dispatched RND transporter family member 3 |
| Synonyms |
G630052C06Rik, Ptchd2 |
| MMRRC Submission |
039566-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1526 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148324721-148372422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148344373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 510
(I510V)
|
| 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: I510V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: I510V
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
G |
T |
12: 21,235,188 (GRCm39) |
A97S |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,712,545 (GRCm39) |
K785E |
probably damaging |
Het |
| C1qtnf1 |
A |
T |
11: 118,334,616 (GRCm39) |
E32V |
possibly damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,525,081 (GRCm39) |
L500P |
probably damaging |
Het |
| Cdo1 |
T |
C |
18: 46,861,130 (GRCm39) |
E27G |
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,484,620 (GRCm39) |
G454D |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,600,648 (GRCm39) |
D991G |
probably damaging |
Het |
| Cep170 |
A |
C |
1: 176,616,071 (GRCm39) |
I79S |
probably damaging |
Het |
| Cep19 |
A |
G |
16: 31,926,039 (GRCm39) |
Q149R |
possibly damaging |
Het |
| Cideb |
A |
T |
14: 55,992,619 (GRCm39) |
L99* |
probably null |
Het |
| Cntnap5a |
A |
G |
1: 116,356,207 (GRCm39) |
N746S |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,080 (GRCm39) |
N1715S |
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,360,848 (GRCm39) |
S93P |
unknown |
Het |
| Csmd3 |
C |
A |
15: 47,449,028 (GRCm39) |
|
probably null |
Het |
| Drosha |
T |
A |
15: 12,914,070 (GRCm39) |
V1115E |
probably damaging |
Het |
| Dzip3 |
A |
C |
16: 48,757,369 (GRCm39) |
L888R |
probably damaging |
Het |
| Emx2 |
C |
A |
19: 59,452,442 (GRCm39) |
A242E |
probably benign |
Het |
| Fto |
G |
A |
8: 92,168,314 (GRCm39) |
E256K |
possibly damaging |
Het |
| Gabrb2 |
A |
C |
11: 42,482,715 (GRCm39) |
Y191S |
possibly damaging |
Het |
| Gm6526 |
A |
T |
14: 43,987,394 (GRCm39) |
H110L |
probably damaging |
Het |
| Grin3b |
T |
A |
10: 79,810,436 (GRCm39) |
N647K |
probably damaging |
Het |
| Ifit2 |
T |
G |
19: 34,550,602 (GRCm39) |
S47R |
probably benign |
Het |
| Il5ra |
A |
T |
6: 106,712,781 (GRCm39) |
V244E |
possibly damaging |
Het |
| Inppl1 |
A |
G |
7: 101,482,153 (GRCm39) |
L141P |
probably benign |
Het |
| Iws1 |
A |
G |
18: 32,213,178 (GRCm39) |
D202G |
probably benign |
Het |
| Kctd4 |
A |
C |
14: 76,200,523 (GRCm39) |
I165L |
probably benign |
Het |
| Lrch3 |
G |
A |
16: 32,770,746 (GRCm39) |
C116Y |
probably damaging |
Het |
| Mettl25 |
T |
C |
10: 105,668,844 (GRCm39) |
T93A |
possibly damaging |
Het |
| Mgat4d |
A |
G |
8: 84,095,666 (GRCm39) |
I314V |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,159 (GRCm39) |
Y256* |
probably null |
Het |
| Myo9b |
G |
T |
8: 71,808,408 (GRCm39) |
V1672L |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,502,975 (GRCm39) |
P449L |
probably benign |
Het |
| Nucb2 |
G |
A |
7: 116,123,642 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,919,412 (GRCm39) |
Y6864C |
probably damaging |
Het |
| Omt2b |
A |
T |
9: 78,235,420 (GRCm39) |
|
probably benign |
Het |
| Or2y3 |
T |
A |
17: 38,393,486 (GRCm39) |
I128F |
probably damaging |
Het |
| Or4p18 |
C |
T |
2: 88,232,777 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or5ac15 |
G |
A |
16: 58,940,293 (GRCm39) |
L47F |
probably damaging |
Het |
| Or6c208 |
A |
G |
10: 129,224,176 (GRCm39) |
K225E |
probably benign |
Het |
| Otogl |
G |
T |
10: 107,705,387 (GRCm39) |
P647T |
probably damaging |
Het |
| Oxnad1 |
A |
G |
14: 31,824,244 (GRCm39) |
D271G |
probably benign |
Het |
| Pbx3 |
T |
C |
2: 34,261,776 (GRCm39) |
I53V |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,639,865 (GRCm39) |
|
probably null |
Het |
| Ppp4r3a |
A |
T |
12: 101,007,000 (GRCm39) |
D810E |
probably damaging |
Het |
| Ptpro |
A |
T |
6: 137,438,724 (GRCm39) |
D1189V |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,492,002 (GRCm39) |
N3758S |
probably damaging |
Het |
| Scarb2 |
G |
A |
5: 92,594,200 (GRCm39) |
T454M |
possibly damaging |
Het |
| Sec23a |
A |
C |
12: 59,032,972 (GRCm39) |
|
probably null |
Het |
| Spire2 |
C |
T |
8: 124,095,502 (GRCm39) |
A535V |
probably benign |
Het |
| Svopl |
A |
T |
6: 38,006,570 (GRCm39) |
F142L |
probably benign |
Het |
| Tas2r144 |
T |
C |
6: 42,192,674 (GRCm39) |
I138T |
probably benign |
Het |
| Tbc1d15 |
A |
G |
10: 115,039,135 (GRCm39) |
M535T |
probably benign |
Het |
| Tnfaip1 |
C |
T |
11: 78,420,971 (GRCm39) |
V30M |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,625,108 (GRCm39) |
W1398R |
probably damaging |
Het |
| Tpo |
A |
G |
12: 30,134,694 (GRCm39) |
S755P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,606,460 (GRCm39) |
S18116R |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,571,465 (GRCm39) |
|
probably null |
Het |
| Wdr49 |
T |
A |
3: 75,304,227 (GRCm39) |
K494M |
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,024,836 (GRCm39) |
M697V |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,579,158 (GRCm39) |
P652S |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,009,002 (GRCm39) |
M323V |
probably benign |
Het |
| Zfp629 |
G |
T |
7: 127,209,931 (GRCm39) |
P626Q |
possibly damaging |
Het |
| Zfp804a |
A |
T |
2: 82,088,532 (GRCm39) |
Y787F |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCCACATGTTAGTCACAGAAGAG -3'
(R):5'- GGTCTTGTTAAGCCAGAGGTGAGC -3'
Sequencing Primer
(F):5'- TTAGTCACAGAAGAGAACAGCAGTC -3'
(R):5'- AGAGGTGAGCCACCTGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation