Incidental Mutation 'IGL01111:4930402H24Rik'
ID50543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930402H24Rik
Ensembl Gene ENSMUSG00000027309
Gene NameRIKEN cDNA 4930402H24 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL01111
Quality Score
Status
Chromosome2
Chromosomal Location130706200-130906406 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 130736598 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 655 (D655E)
Ref Sequence ENSEMBL: ENSMUSP00000113481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044766] [ENSMUST00000119422]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044766
AA Change: D786E

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: D786E

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000119422
AA Change: D655E

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: D655E

DomainStartEndE-ValueType
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: ENSMUST00000133132
Predicted Effect probably benign
Transcript: ENSMUST00000145851
SMART Domains Protein: ENSMUSP00000118946
Gene: ENSMUSG00000027309

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
low complexity region 76 88 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151673
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l T A 18: 31,772,070 Y121* probably null Het
Apc C T 18: 34,315,136 T1661I possibly damaging Het
Ccdc13 T C 9: 121,810,084 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpt1c T C 7: 44,965,554 H325R possibly damaging Het
Cyp2a22 T C 7: 26,936,458 K227E probably damaging Het
Ddx10 T C 9: 53,159,948 K682E possibly damaging Het
Dlg2 T C 7: 91,449,763 Y123H possibly damaging Het
Dnah11 A T 12: 118,142,934 probably benign Het
Dpysl2 T C 14: 66,834,232 E153G probably damaging Het
Edrf1 T A 7: 133,658,553 Y64* probably null Het
Ephb2 A T 4: 136,657,410 S897T probably benign Het
Flt1 A G 5: 147,578,336 I1092T probably damaging Het
Gabra4 T C 5: 71,633,629 Y290C probably damaging Het
Gm853 T A 4: 130,221,725 D10V probably benign Het
Hectd2 A T 19: 36,597,120 H67L probably damaging Het
Itgb2 T C 10: 77,542,000 L11P probably damaging Het
Jmy T C 13: 93,441,021 R880G probably damaging Het
Klhl2 A G 8: 64,749,047 C532R probably damaging Het
Kpna1 A G 16: 36,012,889 probably benign Het
L3mbtl2 T C 15: 81,684,898 V591A possibly damaging Het
Lepr A T 4: 101,814,655 N959Y possibly damaging Het
Man1a A T 10: 53,977,013 probably benign Het
Mov10 A T 3: 104,801,405 S431T possibly damaging Het
Mx2 A T 16: 97,558,719 Q563L probably benign Het
Nrap A T 19: 56,345,558 Y874N probably damaging Het
Nup160 T C 2: 90,733,209 I1373T probably benign Het
Nwd2 A T 5: 63,807,300 D1409V probably damaging Het
Obsl1 A T 1: 75,497,145 V744E possibly damaging Het
Olfr630 T A 7: 103,755,373 T71S probably benign Het
Pgap1 T C 1: 54,530,943 K315R probably benign Het
Rab8a T C 8: 72,175,856 V114A probably damaging Het
Sh2d6 T C 6: 72,519,829 T73A probably benign Het
Shroom1 A G 11: 53,464,048 E265G probably damaging Het
Slc8b1 G A 5: 120,532,935 V529M probably damaging Het
Srbd1 G T 17: 86,098,533 A613E probably benign Het
Stat1 G A 1: 52,142,961 probably null Het
Tbck A G 3: 132,694,407 H73R probably damaging Het
Thg1l A T 11: 45,948,224 D220E probably damaging Het
Ttn C T 2: 76,778,323 G16037D probably damaging Het
Unc13b A G 4: 43,096,927 E100G possibly damaging Het
Vmn2r81 T A 10: 79,247,997 D68E probably benign Het
Xpo6 T C 7: 126,129,568 T505A probably benign Het
Zfp976 T C 7: 42,616,287 K25E probably damaging Het
Other mutations in 4930402H24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:4930402H24Rik APN 2 130784457 missense probably benign 0.00
IGL01093:4930402H24Rik APN 2 130777236 missense probably benign 0.01
IGL01146:4930402H24Rik APN 2 130770671 critical splice donor site probably null
IGL01346:4930402H24Rik APN 2 130791846 splice site probably benign
IGL01548:4930402H24Rik APN 2 130814259 missense probably damaging 1.00
IGL02339:4930402H24Rik APN 2 130739465 missense probably damaging 0.97
IGL02637:4930402H24Rik APN 2 130814307 intron probably benign
IGL02926:4930402H24Rik APN 2 130712366 missense probably benign 0.00
IGL02978:4930402H24Rik APN 2 130727162 missense probably damaging 0.99
IGL03126:4930402H24Rik APN 2 130791995 splice site probably null
IGL03387:4930402H24Rik APN 2 130717280 missense probably damaging 1.00
FR4304:4930402H24Rik UTSW 2 130770748 small insertion probably benign
FR4342:4930402H24Rik UTSW 2 130770742 small insertion probably benign
FR4589:4930402H24Rik UTSW 2 130770745 small insertion probably benign
FR4589:4930402H24Rik UTSW 2 130770752 small insertion probably benign
FR4737:4930402H24Rik UTSW 2 130770752 small insertion probably benign
FR4976:4930402H24Rik UTSW 2 130770739 small insertion probably benign
FR4976:4930402H24Rik UTSW 2 130770742 small insertion probably benign
FR4976:4930402H24Rik UTSW 2 130770753 small insertion probably benign
R0034:4930402H24Rik UTSW 2 130736572 missense probably damaging 1.00
R0034:4930402H24Rik UTSW 2 130736572 missense probably damaging 1.00
R0357:4930402H24Rik UTSW 2 130712946 splice site probably benign
R0379:4930402H24Rik UTSW 2 130785546 splice site probably benign
R0515:4930402H24Rik UTSW 2 130740488 missense probably damaging 1.00
R0576:4930402H24Rik UTSW 2 130713470 missense probably benign 0.16
R0811:4930402H24Rik UTSW 2 130713414 missense probably damaging 1.00
R0812:4930402H24Rik UTSW 2 130713414 missense probably damaging 1.00
R1334:4930402H24Rik UTSW 2 130775722 splice site probably null
R1485:4930402H24Rik UTSW 2 130748683 critical splice donor site probably null
R1486:4930402H24Rik UTSW 2 130737418 missense probably damaging 1.00
R1670:4930402H24Rik UTSW 2 130712379 missense probably damaging 1.00
R1678:4930402H24Rik UTSW 2 130814273 missense probably damaging 0.99
R1700:4930402H24Rik UTSW 2 130709938 missense probably damaging 0.99
R1742:4930402H24Rik UTSW 2 130740395 splice site probably null
R2046:4930402H24Rik UTSW 2 130810917 missense possibly damaging 0.61
R2374:4930402H24Rik UTSW 2 130820574 missense probably damaging 1.00
R3878:4930402H24Rik UTSW 2 130778503 missense possibly damaging 0.92
R3907:4930402H24Rik UTSW 2 130736576 missense probably damaging 0.99
R4467:4930402H24Rik UTSW 2 130767647 missense probably damaging 0.96
R4931:4930402H24Rik UTSW 2 130741873 missense possibly damaging 0.58
R5098:4930402H24Rik UTSW 2 130798181 missense probably damaging 0.99
R5191:4930402H24Rik UTSW 2 130737403 missense possibly damaging 0.68
R5313:4930402H24Rik UTSW 2 130709268 missense probably damaging 1.00
R5405:4930402H24Rik UTSW 2 130712460 missense probably damaging 1.00
R5436:4930402H24Rik UTSW 2 130764499 missense probably benign 0.16
R5522:4930402H24Rik UTSW 2 130814302 intron probably benign
R5783:4930402H24Rik UTSW 2 130739083 missense possibly damaging 0.59
R5931:4930402H24Rik UTSW 2 130814189 missense probably damaging 1.00
R6145:4930402H24Rik UTSW 2 130778473 missense probably benign
R6732:4930402H24Rik UTSW 2 130810820 critical splice donor site probably null
R6938:4930402H24Rik UTSW 2 130775753 missense probably benign 0.00
Posted On2013-06-21