Incidental Mutation 'R3731:Ripor3'
| ID |
270968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ripor3
|
| Ensembl Gene |
ENSMUSG00000074577 |
| Gene Name |
RIPOR family member 3 |
| Synonyms |
Fam65c, 2310033K02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3731 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
167822084-167852538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 167834739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 251
(E251Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099073]
|
| AlphaFold |
A1L3T7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099073
AA Change: E251Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: E251Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PL48
|
19 |
363 |
3.5e-169 |
PFAM |
|
low complexity region
|
414 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
602 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
794 |
909 |
6e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142702
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,427,485 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
T |
16: 20,217,684 (GRCm39) |
Y5* |
probably null |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Adar |
T |
C |
3: 89,653,962 (GRCm39) |
I325T |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,261,125 (GRCm39) |
S92P |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,061,528 (GRCm39) |
V771E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,047,708 (GRCm39) |
S492P |
possibly damaging |
Het |
| Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
| Dennd2d |
T |
G |
3: 106,407,271 (GRCm39) |
F441V |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
| Disp3 |
A |
G |
4: 148,337,284 (GRCm39) |
S844P |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,599,722 (GRCm39) |
K286E |
probably damaging |
Het |
| Fam228a |
T |
C |
12: 4,768,671 (GRCm39) |
E203G |
probably benign |
Het |
| Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
| Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
| Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,148,732 (GRCm39) |
E381G |
possibly damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,155,308 (GRCm39) |
Q320R |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Loxl3 |
T |
C |
6: 83,027,652 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
| Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
| Mbd6 |
A |
G |
10: 127,121,637 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nepn |
A |
T |
10: 52,280,110 (GRCm39) |
N401Y |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
| Npas3 |
T |
C |
12: 53,401,175 (GRCm39) |
I40T |
probably benign |
Het |
| Or1e29 |
T |
C |
11: 73,667,565 (GRCm39) |
E196G |
probably benign |
Het |
| Or1j19 |
A |
T |
2: 36,676,578 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,684 (GRCm39) |
N175Y |
probably damaging |
Het |
| Or4n4b |
T |
A |
14: 50,535,962 (GRCm39) |
D268V |
probably damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,633 (GRCm39) |
I34T |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,338,365 (GRCm39) |
M1L |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,471,193 (GRCm39) |
Y988C |
probably benign |
Het |
| Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
| Serpina1d |
T |
A |
12: 103,734,164 (GRCm39) |
N47Y |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sirpb1c |
T |
C |
3: 15,887,287 (GRCm39) |
K184R |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Upp2 |
T |
C |
2: 58,645,379 (GRCm39) |
S41P |
probably benign |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,719 (GRCm39) |
T104A |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,485,349 (GRCm39) |
S838R |
possibly damaging |
Het |
| Zer1 |
A |
G |
2: 30,000,923 (GRCm39) |
V166A |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,956,308 (GRCm39) |
N897D |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
probably damaging |
Het |
|
| Other mutations in Ripor3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:Ripor3
|
APN |
2 |
167,835,495 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01621:Ripor3
|
APN |
2 |
167,839,172 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01819:Ripor3
|
APN |
2 |
167,822,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01891:Ripor3
|
APN |
2 |
167,825,071 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02110:Ripor3
|
APN |
2 |
167,836,626 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02270:Ripor3
|
APN |
2 |
167,835,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02403:Ripor3
|
APN |
2 |
167,831,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02445:Ripor3
|
APN |
2 |
167,834,682 (GRCm39) |
splice site |
probably benign |
|
|
IGL02447:Ripor3
|
APN |
2 |
167,834,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02711:Ripor3
|
APN |
2 |
167,848,200 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03187:Ripor3
|
APN |
2 |
167,827,588 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03304:Ripor3
|
APN |
2 |
167,822,848 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Ripor3
|
UTSW |
2 |
167,826,358 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Ripor3
|
UTSW |
2 |
167,826,358 (GRCm39) |
splice site |
probably benign |
|
|
R0233:Ripor3
|
UTSW |
2 |
167,834,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Ripor3
|
UTSW |
2 |
167,834,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Ripor3
|
UTSW |
2 |
167,825,692 (GRCm39) |
nonsense |
probably null |
|
|
R1457:Ripor3
|
UTSW |
2 |
167,834,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Ripor3
|
UTSW |
2 |
167,842,297 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1619:Ripor3
|
UTSW |
2 |
167,822,765 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2358:Ripor3
|
UTSW |
2 |
167,825,785 (GRCm39) |
splice site |
probably benign |
|
|
R2431:Ripor3
|
UTSW |
2 |
167,831,715 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2943:Ripor3
|
UTSW |
2 |
167,825,681 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3000:Ripor3
|
UTSW |
2 |
167,833,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3730:Ripor3
|
UTSW |
2 |
167,834,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Ripor3
|
UTSW |
2 |
167,826,386 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4796:Ripor3
|
UTSW |
2 |
167,823,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4854:Ripor3
|
UTSW |
2 |
167,834,733 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4934:Ripor3
|
UTSW |
2 |
167,824,736 (GRCm39) |
missense |
probably benign |
|
|
R4968:Ripor3
|
UTSW |
2 |
167,827,037 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5662:Ripor3
|
UTSW |
2 |
167,835,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5739:Ripor3
|
UTSW |
2 |
167,823,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Ripor3
|
UTSW |
2 |
167,839,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6844:Ripor3
|
UTSW |
2 |
167,835,253 (GRCm39) |
splice site |
probably null |
|
|
R6969:Ripor3
|
UTSW |
2 |
167,827,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6994:Ripor3
|
UTSW |
2 |
167,839,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7609:Ripor3
|
UTSW |
2 |
167,826,490 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7818:Ripor3
|
UTSW |
2 |
167,831,346 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8175:Ripor3
|
UTSW |
2 |
167,825,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8329:Ripor3
|
UTSW |
2 |
167,825,119 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9120:Ripor3
|
UTSW |
2 |
167,822,835 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9130:Ripor3
|
UTSW |
2 |
167,823,267 (GRCm39) |
nonsense |
probably null |
|
|
R9408:Ripor3
|
UTSW |
2 |
167,831,238 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9550:Ripor3
|
UTSW |
2 |
167,822,807 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9660:Ripor3
|
UTSW |
2 |
167,831,646 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGAAGTCTGCGACGTCAC -3'
(R):5'- CAGTATGAGGTACAGCCAGG -3'
Sequencing Primer
(F):5'- AGAAGTCTGCGACGTCACATGTC -3'
(R):5'- AGGTCCTGGGAGGTCTAGGAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation