Incidental Mutation 'R1700:4930402H24Rik'
| ID |
189628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930402H24Rik
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
RIKEN cDNA 4930402H24 gene |
| Synonyms |
|
| MMRRC Submission |
039733-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1700 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130706200-130906406 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130709938 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1010
(L1010F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113481
(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: L1141F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: L1141F
| 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: L1010F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: L1010F
| 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 |
noncoding transcript
Transcript: ENSMUST00000122745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139684
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,849,537 (GRCm38) |
F936L |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,152,057 (GRCm38) |
I211N |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,779,518 (GRCm38) |
|
probably benign |
Het |
| Alas1 |
C |
T |
9: 106,239,646 (GRCm38) |
V293I |
possibly damaging |
Het |
| Ap1g1 |
T |
C |
8: 109,853,612 (GRCm38) |
Y569H |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,312,769 (GRCm38) |
D1190G |
probably damaging |
Het |
| Astn2 |
G |
A |
4: 65,746,354 (GRCm38) |
Q679* |
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,462,909 (GRCm38) |
H5L |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,249,328 (GRCm38) |
K279E |
probably damaging |
Het |
| C2cd2l |
G |
A |
9: 44,316,612 (GRCm38) |
P111S |
probably benign |
Het |
| C7 |
T |
A |
15: 5,002,792 (GRCm38) |
K646* |
probably null |
Het |
| Ccp110 |
C |
T |
7: 118,735,313 (GRCm38) |
T1003I |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 165,170,796 (GRCm38) |
D123G |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,340,883 (GRCm38) |
E397K |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,630,370 (GRCm38) |
V722A |
probably benign |
Het |
| Cpsf4l |
A |
G |
11: 113,702,075 (GRCm38) |
F174S |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 63,852,772 (GRCm38) |
C332R |
probably damaging |
Het |
| Cxcl10 |
A |
T |
5: 92,347,855 (GRCm38) |
N76K |
probably damaging |
Het |
| Dnaja3 |
G |
A |
16: 4,684,165 (GRCm38) |
R11K |
probably null |
Het |
| Efcab10 |
A |
G |
12: 33,395,171 (GRCm38) |
T28A |
possibly damaging |
Het |
| Esrrg |
A |
G |
1: 188,043,653 (GRCm38) |
R103G |
probably damaging |
Het |
| Exosc2 |
A |
G |
2: 31,670,806 (GRCm38) |
K23E |
probably benign |
Het |
| Flot2 |
C |
T |
11: 78,049,547 (GRCm38) |
S40L |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,991,737 (GRCm38) |
V5938A |
probably benign |
Het |
| Gclc |
A |
G |
9: 77,776,289 (GRCm38) |
T143A |
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,624 (GRCm38) |
V407A |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,232,058 (GRCm38) |
M497K |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,450,678 (GRCm38) |
|
probably null |
Het |
| Hnrnpll |
A |
C |
17: 80,034,105 (GRCm38) |
S502A |
probably benign |
Het |
| Ipo11 |
G |
T |
13: 106,795,662 (GRCm38) |
T975N |
probably benign |
Het |
| Kif17 |
C |
T |
4: 138,262,698 (GRCm38) |
Q66* |
probably null |
Het |
| Lrp10 |
T |
C |
14: 54,469,752 (GRCm38) |
V682A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,180,678 (GRCm38) |
L75Q |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,899,335 (GRCm38) |
Y430N |
probably benign |
Het |
| Med8 |
C |
T |
4: 118,412,734 (GRCm38) |
S72L |
possibly damaging |
Het |
| Mex3a |
A |
G |
3: 88,536,375 (GRCm38) |
T253A |
probably damaging |
Het |
| Myf6 |
T |
C |
10: 107,493,359 (GRCm38) |
K242E |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,343 (GRCm38) |
Y31F |
probably benign |
Het |
| Ndufa12 |
T |
A |
10: 94,199,993 (GRCm38) |
Y48N |
probably damaging |
Het |
| Olfr1111 |
T |
G |
2: 87,149,779 (GRCm38) |
N294T |
probably damaging |
Het |
| Olfr1145 |
T |
C |
2: 87,810,768 (GRCm38) |
V316A |
probably benign |
Het |
| Olfr638 |
T |
A |
7: 104,004,122 (GRCm38) |
Y282* |
probably null |
Het |
| Pde4dip |
T |
C |
3: 97,703,323 (GRCm38) |
T1858A |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,434,481 (GRCm38) |
L2P |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 122,487,502 (GRCm38) |
R1642H |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,357,008 (GRCm38) |
M213K |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 129,123,121 (GRCm38) |
N709S |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,398,429 (GRCm38) |
W308R |
probably damaging |
Het |
| Prkag2 |
A |
T |
5: 24,871,541 (GRCm38) |
I208N |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,443,594 (GRCm38) |
V1007D |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,330,864 (GRCm38) |
F156I |
probably damaging |
Het |
| Rpusd3 |
A |
G |
6: 113,415,533 (GRCm38) |
*345Q |
probably null |
Het |
| Rrp1b |
A |
G |
17: 32,057,204 (GRCm38) |
K575R |
probably benign |
Het |
| Shd |
G |
A |
17: 55,974,307 (GRCm38) |
V250I |
probably damaging |
Het |
| Slc12a5 |
C |
A |
2: 164,992,376 (GRCm38) |
N749K |
possibly damaging |
Het |
| Sorbs2 |
T |
A |
8: 45,800,984 (GRCm38) |
V488D |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,277,515 (GRCm38) |
R838* |
probably null |
Het |
| Srsf4 |
C |
A |
4: 131,900,560 (GRCm38) |
|
probably benign |
Het |
| Strn |
T |
C |
17: 78,692,402 (GRCm38) |
Y135C |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,759,628 (GRCm38) |
M1V |
probably null |
Het |
| Tas1r3 |
T |
G |
4: 155,861,570 (GRCm38) |
Q489P |
probably benign |
Het |
| Tas2r103 |
A |
T |
6: 133,036,811 (GRCm38) |
N97K |
probably damaging |
Het |
| Tas2r113 |
A |
G |
6: 132,893,792 (GRCm38) |
Y261C |
possibly damaging |
Het |
| Tex21 |
T |
C |
12: 76,221,672 (GRCm38) |
E112G |
probably damaging |
Het |
| Trappc8 |
T |
C |
18: 20,832,998 (GRCm38) |
S1128G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,371,743 (GRCm38) |
|
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,215,044 (GRCm38) |
D121G |
probably damaging |
Het |
| Ubxn4 |
A |
G |
1: 128,252,286 (GRCm38) |
I56V |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,963,524 (GRCm38) |
I348M |
probably damaging |
Het |
| Usp21 |
C |
A |
1: 171,283,722 (GRCm38) |
L379F |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,842,965 (GRCm38) |
H214L |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,302,741 (GRCm38) |
E93G |
unknown |
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 |
|
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 |
|
|
R8439:4930402H24Rik
|
UTSW |
2 |
130,770,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- ACACCAACATGGAATGCGTGCC -3'
(R):5'- GCCAAATGAGGTTTTCTGGGTGAAC -3'
Sequencing Primer
(F):5'- CTGTGGGGTTTATCCCTGCC -3'
(R):5'- ggggctgggattaaaggtg -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation