Incidental Mutation 'R8439:4930402H24Rik'
| ID |
654144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930402H24Rik
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
RIKEN cDNA 4930402H24 gene |
| Synonyms |
|
| MMRRC Submission |
067883-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130706200-130906406 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130770701 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 482
(L482S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000119422]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044766
AA Change: L482S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: L482S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
545 |
N/A |
INTRINSIC |
|
coiled coil region
|
1143 |
1171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119422
AA Change: L351S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: L351S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
414 |
N/A |
INTRINSIC |
|
coiled coil region
|
1012 |
1040 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118946
Gene: ENSMUSG00000027309
AA Change: L24S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
88 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
T |
10: 80,006,161 (GRCm38) |
T1043S |
probably benign |
Het |
| Acadvl |
T |
A |
11: 70,011,728 (GRCm38) |
K410* |
probably null |
Het |
| Adam8 |
C |
T |
7: 139,987,849 (GRCm38) |
G354D |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,762,610 (GRCm38) |
E1366G |
possibly damaging |
Het |
| Bahcc1 |
C |
A |
11: 120,274,589 (GRCm38) |
Q949K |
probably benign |
Het |
| Bsn |
G |
A |
9: 108,111,452 (GRCm38) |
A2367V |
probably benign |
Het |
| Ccdc141 |
T |
A |
2: 77,059,550 (GRCm38) |
Y466F |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 104,309,470 (GRCm38) |
|
probably benign |
Het |
| Cyp4a30b |
C |
A |
4: 115,457,775 (GRCm38) |
Q185K |
probably benign |
Het |
| Dlx2 |
A |
T |
2: 71,545,538 (GRCm38) |
I147K |
possibly damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,760,867 (GRCm38) |
|
probably null |
Het |
| Dock7 |
C |
A |
4: 99,083,029 (GRCm38) |
V100F |
|
Het |
| Dspp |
C |
A |
5: 104,177,296 (GRCm38) |
D508E |
unknown |
Het |
| Duox2 |
G |
T |
2: 122,298,155 (GRCm38) |
T4K |
probably benign |
Het |
| Ear1 |
T |
C |
14: 43,819,247 (GRCm38) |
N55D |
probably damaging |
Het |
| Echdc1 |
G |
C |
10: 29,334,246 (GRCm38) |
E179Q |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,096,109 (GRCm38) |
M547V |
possibly damaging |
Het |
| Erbb2 |
A |
G |
11: 98,428,972 (GRCm38) |
N630S |
possibly damaging |
Het |
| Fam227a |
G |
A |
15: 79,630,070 (GRCm38) |
S363L |
possibly damaging |
Het |
| Fam98b |
A |
G |
2: 117,270,900 (GRCm38) |
R398G |
unknown |
Het |
| Fsip2 |
G |
A |
2: 82,977,086 (GRCm38) |
D1250N |
probably benign |
Het |
| Gdnf |
G |
T |
15: 7,834,653 (GRCm38) |
E182* |
probably null |
Het |
| Gys2 |
T |
C |
6: 142,461,195 (GRCm38) |
H145R |
probably benign |
Het |
| Hcls1 |
A |
G |
16: 36,946,641 (GRCm38) |
K69R |
probably benign |
Het |
| Itih5 |
A |
G |
2: 10,235,058 (GRCm38) |
N332S |
probably benign |
Het |
| Kcnb2 |
T |
A |
1: 15,312,710 (GRCm38) |
Y87N |
probably damaging |
Het |
| Lrriq3 |
A |
G |
3: 155,188,236 (GRCm38) |
N525D |
probably damaging |
Het |
| Lsg1 |
A |
T |
16: 30,561,751 (GRCm38) |
W623R |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,725,072 (GRCm38) |
Y243C |
probably benign |
Het |
| Nans |
T |
C |
4: 46,492,814 (GRCm38) |
Y81H |
probably damaging |
Het |
| Nup54 |
T |
G |
5: 92,425,746 (GRCm38) |
N199T |
probably benign |
Het |
| Olfr1136 |
A |
T |
2: 87,693,744 (GRCm38) |
I46N |
probably damaging |
Het |
| Olfr1261 |
C |
T |
2: 89,994,004 (GRCm38) |
L204F |
probably benign |
Het |
| Olfr39 |
T |
A |
9: 20,286,041 (GRCm38) |
L122* |
probably null |
Het |
| Olfr727 |
T |
C |
14: 50,127,147 (GRCm38) |
I190T |
probably benign |
Het |
| Olfr91 |
A |
G |
17: 37,093,772 (GRCm38) |
L34P |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,420,205 (GRCm38) |
R734W |
probably damaging |
Het |
| Peg10 |
T |
C |
6: 4,755,462 (GRCm38) |
F13L |
possibly damaging |
Het |
| Pih1d3 |
T |
A |
1: 31,223,268 (GRCm38) |
D110E |
probably damaging |
Het |
| Plcb1 |
T |
C |
2: 135,250,052 (GRCm38) |
|
probably null |
Het |
| Ppfibp1 |
T |
C |
6: 147,000,950 (GRCm38) |
V285A |
possibly damaging |
Het |
| Prpf39 |
T |
C |
12: 65,055,262 (GRCm38) |
V371A |
possibly damaging |
Het |
| Psmb11 |
G |
A |
14: 54,625,556 (GRCm38) |
C77Y |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,955,133 (GRCm38) |
L1133P |
probably benign |
Het |
| Slc16a1 |
G |
T |
3: 104,652,833 (GRCm38) |
M151I |
probably benign |
Het |
| Tarm1 |
G |
T |
7: 3,497,521 (GRCm38) |
Q89K |
possibly damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,855,577 (GRCm38) |
I47T |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,529,398 (GRCm38) |
D85G |
probably damaging |
Het |
| Trbv14 |
T |
C |
6: 41,135,365 (GRCm38) |
L32P |
probably benign |
Het |
| Trim16 |
T |
C |
11: 62,850,588 (GRCm38) |
L486P |
probably benign |
Het |
| Trmt1l |
T |
G |
1: 151,449,976 (GRCm38) |
S391A |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,850,057 (GRCm38) |
N3772K |
probably damaging |
Het |
| Vmn1r230 |
G |
T |
17: 20,846,608 (GRCm38) |
A20S |
probably benign |
Het |
| Wdr76 |
A |
G |
2: 121,510,698 (GRCm38) |
N75D |
possibly damaging |
Het |
| Zfp977 |
A |
G |
7: 42,580,678 (GRCm38) |
L141S |
probably benign |
Het |
| Zfp988 |
A |
G |
4: 147,332,351 (GRCm38) |
D414G |
probably benign |
Het |
|
| Other mutations in 4930402H24Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00556:4930402H24Rik
|
APN |
2 |
130,784,457 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01093:4930402H24Rik
|
APN |
2 |
130,777,236 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01111:4930402H24Rik
|
APN |
2 |
130,736,598 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01146:4930402H24Rik
|
APN |
2 |
130,770,671 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01346:4930402H24Rik
|
APN |
2 |
130,791,846 (GRCm38) |
splice site |
probably benign |
|
|
IGL01548:4930402H24Rik
|
APN |
2 |
130,814,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02339:4930402H24Rik
|
APN |
2 |
130,739,465 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02637:4930402H24Rik
|
APN |
2 |
130,814,307 (GRCm38) |
intron |
probably benign |
|
|
IGL02926:4930402H24Rik
|
APN |
2 |
130,712,366 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02978:4930402H24Rik
|
APN |
2 |
130,727,162 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03126:4930402H24Rik
|
APN |
2 |
130,791,995 (GRCm38) |
splice site |
probably null |
|
|
IGL03387:4930402H24Rik
|
APN |
2 |
130,717,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
best_times
|
UTSW |
2 |
130,736,576 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Hard_times
|
UTSW |
2 |
130,713,470 (GRCm38) |
missense |
probably benign |
0.16 |
|
worst_times
|
UTSW |
2 |
130,713,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4304:4930402H24Rik
|
UTSW |
2 |
130,770,748 (GRCm38) |
small insertion |
probably benign |
|
|
FR4342:4930402H24Rik
|
UTSW |
2 |
130,770,742 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:4930402H24Rik
|
UTSW |
2 |
130,770,752 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:4930402H24Rik
|
UTSW |
2 |
130,770,745 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:4930402H24Rik
|
UTSW |
2 |
130,770,752 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:4930402H24Rik
|
UTSW |
2 |
130,770,753 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:4930402H24Rik
|
UTSW |
2 |
130,770,742 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:4930402H24Rik
|
UTSW |
2 |
130,770,739 (GRCm38) |
small insertion |
probably benign |
|
|
R0034:4930402H24Rik
|
UTSW |
2 |
130,736,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0034:4930402H24Rik
|
UTSW |
2 |
130,736,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0357:4930402H24Rik
|
UTSW |
2 |
130,712,946 (GRCm38) |
splice site |
probably benign |
|
|
R0379:4930402H24Rik
|
UTSW |
2 |
130,785,546 (GRCm38) |
splice site |
probably benign |
|
|
R0515:4930402H24Rik
|
UTSW |
2 |
130,740,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0576:4930402H24Rik
|
UTSW |
2 |
130,713,470 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0811:4930402H24Rik
|
UTSW |
2 |
130,713,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0812:4930402H24Rik
|
UTSW |
2 |
130,713,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1334:4930402H24Rik
|
UTSW |
2 |
130,775,722 (GRCm38) |
splice site |
probably null |
|
|
R1485:4930402H24Rik
|
UTSW |
2 |
130,748,683 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1486:4930402H24Rik
|
UTSW |
2 |
130,737,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1670:4930402H24Rik
|
UTSW |
2 |
130,712,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1678:4930402H24Rik
|
UTSW |
2 |
130,814,273 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1700:4930402H24Rik
|
UTSW |
2 |
130,709,938 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1742:4930402H24Rik
|
UTSW |
2 |
130,740,395 (GRCm38) |
splice site |
probably null |
|
|
R2046:4930402H24Rik
|
UTSW |
2 |
130,810,917 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R2374:4930402H24Rik
|
UTSW |
2 |
130,820,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3878:4930402H24Rik
|
UTSW |
2 |
130,778,503 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3907:4930402H24Rik
|
UTSW |
2 |
130,736,576 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4467:4930402H24Rik
|
UTSW |
2 |
130,767,647 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4931:4930402H24Rik
|
UTSW |
2 |
130,741,873 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R5098:4930402H24Rik
|
UTSW |
2 |
130,798,181 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5191:4930402H24Rik
|
UTSW |
2 |
130,737,403 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5313:4930402H24Rik
|
UTSW |
2 |
130,709,268 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5405:4930402H24Rik
|
UTSW |
2 |
130,712,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5436:4930402H24Rik
|
UTSW |
2 |
130,764,499 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5522:4930402H24Rik
|
UTSW |
2 |
130,814,302 (GRCm38) |
intron |
probably benign |
|
|
R5783:4930402H24Rik
|
UTSW |
2 |
130,739,083 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R5931:4930402H24Rik
|
UTSW |
2 |
130,814,189 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6145:4930402H24Rik
|
UTSW |
2 |
130,778,473 (GRCm38) |
missense |
probably benign |
|
|
R6732:4930402H24Rik
|
UTSW |
2 |
130,810,820 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6938:4930402H24Rik
|
UTSW |
2 |
130,775,753 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7161:4930402H24Rik
|
UTSW |
2 |
130,806,788 (GRCm38) |
missense |
unknown |
|
|
R7193:4930402H24Rik
|
UTSW |
2 |
130,806,788 (GRCm38) |
missense |
unknown |
|
|
R7194:4930402H24Rik
|
UTSW |
2 |
130,806,788 (GRCm38) |
missense |
unknown |
|
|
R7233:4930402H24Rik
|
UTSW |
2 |
130,806,788 (GRCm38) |
missense |
unknown |
|
|
R7234:4930402H24Rik
|
UTSW |
2 |
130,806,788 (GRCm38) |
missense |
unknown |
|
|
R7238:4930402H24Rik
|
UTSW |
2 |
130,806,788 (GRCm38) |
missense |
unknown |
|
|
R7239:4930402H24Rik
|
UTSW |
2 |
130,806,788 (GRCm38) |
missense |
unknown |
|
|
R7268:4930402H24Rik
|
UTSW |
2 |
130,806,788 (GRCm38) |
missense |
unknown |
|
|
R7807:4930402H24Rik
|
UTSW |
2 |
130,710,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7904:4930402H24Rik
|
UTSW |
2 |
130,792,003 (GRCm38) |
splice site |
probably null |
|
|
R7999:4930402H24Rik
|
UTSW |
2 |
130,737,452 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8047:4930402H24Rik
|
UTSW |
2 |
130,775,099 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8286:4930402H24Rik
|
UTSW |
2 |
130,717,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8315:4930402H24Rik
|
UTSW |
2 |
130,770,735 (GRCm38) |
small deletion |
probably benign |
|
|
R8925:4930402H24Rik
|
UTSW |
2 |
130,737,380 (GRCm38) |
nonsense |
probably null |
|
|
R8927:4930402H24Rik
|
UTSW |
2 |
130,737,380 (GRCm38) |
nonsense |
probably null |
|
|
R9070:4930402H24Rik
|
UTSW |
2 |
130,812,873 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9367:4930402H24Rik
|
UTSW |
2 |
130,739,460 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9558:4930402H24Rik
|
UTSW |
2 |
130,775,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9565:4930402H24Rik
|
UTSW |
2 |
130,806,791 (GRCm38) |
missense |
unknown |
|
|
R9758:4930402H24Rik
|
UTSW |
2 |
130,713,018 (GRCm38) |
missense |
probably damaging |
0.99 |
|
RF027:4930402H24Rik
|
UTSW |
2 |
130,770,744 (GRCm38) |
small insertion |
probably benign |
|
|
RF038:4930402H24Rik
|
UTSW |
2 |
130,770,744 (GRCm38) |
nonsense |
probably null |
|
|
RF046:4930402H24Rik
|
UTSW |
2 |
130,770,734 (GRCm38) |
nonsense |
probably null |
|
|
RF048:4930402H24Rik
|
UTSW |
2 |
130,770,734 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:4930402H24Rik
|
UTSW |
2 |
130,710,867 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACTTCCATGAACAGCCTGTTTG -3'
(R):5'- AGCCTAGGTCCTAAGGGATTTG -3'
Sequencing Primer
(F):5'- GAACAGCCTGTTTGTATTTTTGACC -3'
(R):5'- AGGTCCTAAGGGATTTGTCAGTATTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation