Incidental Mutation 'R5344:D630045J12Rik'
| ID |
422491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D630045J12Rik
|
| Ensembl Gene |
ENSMUSG00000063455 |
| Gene Name |
RIKEN cDNA D630045J12 gene |
| Synonyms |
|
| MMRRC Submission |
042923-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
38100109-38230944 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38135163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1339
(V1339A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117556]
[ENSMUST00000169256]
|
| AlphaFold |
Q68FD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117556
AA Change: V1198A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: V1198A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
190 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
598 |
N/A |
INTRINSIC |
|
transmembrane domain
|
708 |
730 |
N/A |
INTRINSIC |
|
Pfam:DUF3827
|
746 |
1412 |
N/A |
PFAM |
|
low complexity region
|
1480 |
1500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152464
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169256
AA Change: V1339A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: V1339A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
807 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
860 |
877 |
N/A |
INTRINSIC |
|
transmembrane domain
|
987 |
1009 |
N/A |
INTRINSIC |
|
Pfam:DUF3827
|
1026 |
1691 |
7.1e-301 |
PFAM |
|
low complexity region
|
1759 |
1779 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3772 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,289,801 (GRCm39) |
C1499G |
probably benign |
Het |
| Aldoart1 |
A |
G |
4: 72,770,352 (GRCm39) |
V152A |
possibly damaging |
Het |
| Alms1 |
T |
C |
6: 85,673,771 (GRCm39) |
L3591P |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,356,843 (GRCm39) |
M58K |
probably damaging |
Het |
| Asb3 |
A |
C |
11: 31,051,114 (GRCm39) |
I523L |
probably benign |
Het |
| Ascl2 |
T |
C |
7: 142,522,436 (GRCm39) |
H4R |
possibly damaging |
Het |
| Asic2 |
T |
C |
11: 80,862,413 (GRCm39) |
M246V |
probably damaging |
Het |
| Btc |
A |
T |
5: 91,524,779 (GRCm39) |
C53S |
possibly damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,856,437 (GRCm39) |
I39M |
probably damaging |
Het |
| Cdkn3 |
T |
A |
14: 47,004,807 (GRCm39) |
M123K |
possibly damaging |
Het |
| Cebpz |
A |
G |
17: 79,233,542 (GRCm39) |
Y762H |
possibly damaging |
Het |
| Ces1g |
T |
A |
8: 94,063,821 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,236,763 (GRCm39) |
|
probably null |
Het |
| Chd7 |
G |
T |
4: 8,844,417 (GRCm39) |
G1537W |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,793,703 (GRCm39) |
D317E |
probably damaging |
Het |
| Clec3a |
C |
A |
8: 115,149,712 (GRCm39) |
N56K |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 114,002,011 (GRCm39) |
|
probably null |
Het |
| Cox20 |
G |
A |
1: 178,149,598 (GRCm39) |
|
probably benign |
Het |
| Cyp2d22 |
A |
G |
15: 82,255,839 (GRCm39) |
V471A |
possibly damaging |
Het |
| Duox2 |
T |
C |
2: 122,112,352 (GRCm39) |
D1278G |
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,450,614 (GRCm39) |
P284L |
probably benign |
Het |
| Evi5l |
G |
T |
8: 4,235,990 (GRCm39) |
R61L |
possibly damaging |
Het |
| Fbln2 |
T |
C |
6: 91,243,365 (GRCm39) |
Y914H |
probably damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,238,030 (GRCm39) |
S191P |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,809,569 (GRCm39) |
I567T |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,262,117 (GRCm39) |
R550K |
probably damaging |
Het |
| Gpcpd1 |
G |
A |
2: 132,400,597 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,481,739 (GRCm39) |
I3096T |
probably benign |
Het |
| Hic2 |
T |
A |
16: 17,075,712 (GRCm39) |
D180E |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,617,057 (GRCm39) |
F172L |
possibly damaging |
Het |
| Itga1 |
A |
G |
13: 115,138,845 (GRCm39) |
S369P |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,880,575 (GRCm39) |
R675Q |
probably null |
Het |
| Lrrc3b |
T |
C |
14: 15,358,591 (GRCm38) |
D5G |
probably damaging |
Het |
| Maml3 |
T |
A |
3: 52,011,146 (GRCm39) |
D140V |
probably damaging |
Het |
| Med21 |
A |
G |
6: 146,550,683 (GRCm39) |
T65A |
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,095,186 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,406,430 (GRCm39) |
D152G |
probably damaging |
Het |
| Oas1b |
C |
A |
5: 120,960,269 (GRCm39) |
Q325K |
probably benign |
Het |
| Or10j27 |
A |
G |
1: 172,958,673 (GRCm39) |
L37P |
probably benign |
Het |
| Or2n1c |
C |
A |
17: 38,519,995 (GRCm39) |
N286K |
probably damaging |
Het |
| Or5d44 |
A |
C |
2: 88,141,334 (GRCm39) |
C269G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,726,626 (GRCm39) |
|
probably benign |
Het |
| Phactr2 |
C |
T |
10: 13,129,360 (GRCm39) |
V233I |
possibly damaging |
Het |
| Plekha2 |
A |
T |
8: 25,533,063 (GRCm39) |
|
probably null |
Het |
| Reg3b |
A |
G |
6: 78,349,843 (GRCm39) |
M128V |
probably benign |
Het |
| Rnaseh2a |
A |
G |
8: 85,684,735 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,363,073 (GRCm39) |
S516G |
probably benign |
Het |
| Serpina12 |
T |
A |
12: 104,001,807 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
T |
C |
12: 81,000,540 (GRCm39) |
T320A |
possibly damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,519,402 (GRCm39) |
D539E |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,007 (GRCm39) |
R485S |
possibly damaging |
Het |
| Srp54b |
T |
G |
12: 55,302,366 (GRCm39) |
I339S |
probably damaging |
Het |
| Tada1 |
G |
A |
1: 166,207,081 (GRCm39) |
|
probably benign |
Het |
| Trim16 |
T |
C |
11: 62,711,751 (GRCm39) |
C54R |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,735,618 (GRCm39) |
R2824Q |
probably benign |
Het |
| Ttpa |
A |
G |
4: 20,021,245 (GRCm39) |
I138V |
probably damaging |
Het |
| Ubap2 |
A |
C |
4: 41,251,578 (GRCm39) |
M18R |
possibly damaging |
Het |
| Usp38 |
A |
G |
8: 81,712,392 (GRCm39) |
S548P |
possibly damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,525,046 (GRCm39) |
D34G |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,904,904 (GRCm39) |
H74L |
probably damaging |
Het |
| Zfp408 |
C |
T |
2: 91,475,588 (GRCm39) |
C622Y |
probably benign |
Het |
| Zfp616 |
T |
C |
11: 73,975,321 (GRCm39) |
I530T |
possibly damaging |
Het |
| Zfp9 |
C |
A |
6: 118,442,140 (GRCm39) |
C174F |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,658,096 (GRCm39) |
I605T |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,031,519 (GRCm39) |
T530A |
probably damaging |
Het |
|
| Other mutations in D630045J12Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00578:D630045J12Rik
|
APN |
6 |
38,171,865 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01089:D630045J12Rik
|
APN |
6 |
38,113,898 (GRCm39) |
missense |
probably benign |
|
|
IGL01745:D630045J12Rik
|
APN |
6 |
38,168,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02069:D630045J12Rik
|
APN |
6 |
38,161,007 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02238:D630045J12Rik
|
APN |
6 |
38,173,329 (GRCm39) |
missense |
probably benign |
|
|
IGL02496:D630045J12Rik
|
APN |
6 |
38,126,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:D630045J12Rik
|
APN |
6 |
38,172,420 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03030:D630045J12Rik
|
APN |
6 |
38,126,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03203:D630045J12Rik
|
APN |
6 |
38,145,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03205:D630045J12Rik
|
APN |
6 |
38,124,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4472001:D630045J12Rik
|
UTSW |
6 |
38,155,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4687001:D630045J12Rik
|
UTSW |
6 |
38,172,036 (GRCm39) |
missense |
probably benign |
|
|
R0021:D630045J12Rik
|
UTSW |
6 |
38,160,902 (GRCm39) |
nonsense |
probably null |
|
|
R0021:D630045J12Rik
|
UTSW |
6 |
38,160,902 (GRCm39) |
nonsense |
probably null |
|
|
R0128:D630045J12Rik
|
UTSW |
6 |
38,126,706 (GRCm39) |
splice site |
probably benign |
|
|
R0130:D630045J12Rik
|
UTSW |
6 |
38,126,706 (GRCm39) |
splice site |
probably benign |
|
|
R0206:D630045J12Rik
|
UTSW |
6 |
38,116,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0208:D630045J12Rik
|
UTSW |
6 |
38,116,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0347:D630045J12Rik
|
UTSW |
6 |
38,158,327 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0396:D630045J12Rik
|
UTSW |
6 |
38,173,671 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0538:D630045J12Rik
|
UTSW |
6 |
38,168,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:D630045J12Rik
|
UTSW |
6 |
38,173,713 (GRCm39) |
missense |
probably benign |
|
|
R0842:D630045J12Rik
|
UTSW |
6 |
38,125,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1120:D630045J12Rik
|
UTSW |
6 |
38,171,705 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1323:D630045J12Rik
|
UTSW |
6 |
38,125,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1323:D630045J12Rik
|
UTSW |
6 |
38,125,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1412:D630045J12Rik
|
UTSW |
6 |
38,172,695 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1546:D630045J12Rik
|
UTSW |
6 |
38,167,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:D630045J12Rik
|
UTSW |
6 |
38,158,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1704:D630045J12Rik
|
UTSW |
6 |
38,116,362 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1969:D630045J12Rik
|
UTSW |
6 |
38,145,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:D630045J12Rik
|
UTSW |
6 |
38,145,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:D630045J12Rik
|
UTSW |
6 |
38,151,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2354:D630045J12Rik
|
UTSW |
6 |
38,135,026 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2926:D630045J12Rik
|
UTSW |
6 |
38,145,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:D630045J12Rik
|
UTSW |
6 |
38,119,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3886:D630045J12Rik
|
UTSW |
6 |
38,119,633 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4439:D630045J12Rik
|
UTSW |
6 |
38,171,696 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4688:D630045J12Rik
|
UTSW |
6 |
38,173,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4739:D630045J12Rik
|
UTSW |
6 |
38,172,971 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4748:D630045J12Rik
|
UTSW |
6 |
38,173,776 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4792:D630045J12Rik
|
UTSW |
6 |
38,125,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:D630045J12Rik
|
UTSW |
6 |
38,171,420 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4947:D630045J12Rik
|
UTSW |
6 |
38,125,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:D630045J12Rik
|
UTSW |
6 |
38,125,302 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4973:D630045J12Rik
|
UTSW |
6 |
38,125,302 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5261:D630045J12Rik
|
UTSW |
6 |
38,171,555 (GRCm39) |
missense |
probably benign |
|
|
R5488:D630045J12Rik
|
UTSW |
6 |
38,173,782 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5489:D630045J12Rik
|
UTSW |
6 |
38,173,782 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5605:D630045J12Rik
|
UTSW |
6 |
38,168,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:D630045J12Rik
|
UTSW |
6 |
38,173,302 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5831:D630045J12Rik
|
UTSW |
6 |
38,119,592 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5939:D630045J12Rik
|
UTSW |
6 |
38,171,904 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6021:D630045J12Rik
|
UTSW |
6 |
38,167,552 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6060:D630045J12Rik
|
UTSW |
6 |
38,107,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6081:D630045J12Rik
|
UTSW |
6 |
38,119,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6498:D630045J12Rik
|
UTSW |
6 |
38,124,132 (GRCm39) |
nonsense |
probably null |
|
|
R6930:D630045J12Rik
|
UTSW |
6 |
38,135,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:D630045J12Rik
|
UTSW |
6 |
38,171,570 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7156:D630045J12Rik
|
UTSW |
6 |
38,171,964 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7248:D630045J12Rik
|
UTSW |
6 |
38,145,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7249:D630045J12Rik
|
UTSW |
6 |
38,113,885 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7250:D630045J12Rik
|
UTSW |
6 |
38,119,546 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7376:D630045J12Rik
|
UTSW |
6 |
38,151,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7491:D630045J12Rik
|
UTSW |
6 |
38,119,601 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7552:D630045J12Rik
|
UTSW |
6 |
38,125,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7560:D630045J12Rik
|
UTSW |
6 |
38,173,562 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7593:D630045J12Rik
|
UTSW |
6 |
38,172,429 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7624:D630045J12Rik
|
UTSW |
6 |
38,126,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:D630045J12Rik
|
UTSW |
6 |
38,154,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:D630045J12Rik
|
UTSW |
6 |
38,105,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8167:D630045J12Rik
|
UTSW |
6 |
38,167,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8189:D630045J12Rik
|
UTSW |
6 |
38,135,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:D630045J12Rik
|
UTSW |
6 |
38,119,846 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8270:D630045J12Rik
|
UTSW |
6 |
38,167,658 (GRCm39) |
nonsense |
probably null |
|
|
R8331:D630045J12Rik
|
UTSW |
6 |
38,125,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:D630045J12Rik
|
UTSW |
6 |
38,125,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8365:D630045J12Rik
|
UTSW |
6 |
38,172,570 (GRCm39) |
missense |
probably benign |
|
|
R8492:D630045J12Rik
|
UTSW |
6 |
38,167,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:D630045J12Rik
|
UTSW |
6 |
38,126,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:D630045J12Rik
|
UTSW |
6 |
38,173,898 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9052:D630045J12Rik
|
UTSW |
6 |
38,154,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:D630045J12Rik
|
UTSW |
6 |
38,135,173 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9273:D630045J12Rik
|
UTSW |
6 |
38,167,512 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9431:D630045J12Rik
|
UTSW |
6 |
38,173,814 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCAGCAGAGAACAGTCTAG -3'
(R):5'- TGTGTTTCACGCTAACCACC -3'
Sequencing Primer
(F):5'- GCAGTACTAACCTCCCTCTGAG -3'
(R):5'- AACCACCCCGTGTGTATTAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation