Incidental Mutation 'IGL01346:4930402H24Rik'
ID75072
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 #IGL01346
Quality Score
Status
Chromosome2
Chromosomal Location130706200-130906406 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 130791846 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044766] [ENSMUST00000119422]
Predicted Effect probably benign
Transcript: ENSMUST00000044766
SMART Domains Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309

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 probably benign
Transcript: ENSMUST00000119422
SMART Domains Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309

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: ENSMUST00000123049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148924
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,311,060 V135A unknown Het
Cnot4 A T 6: 35,070,248 I143N probably damaging Het
Cnot6l A T 5: 96,086,246 M302K probably damaging Het
Dmxl2 T C 9: 54,415,475 T1542A probably damaging Het
Dnhd1 T C 7: 105,713,909 S3893P probably benign Het
Duox2 A T 2: 122,287,202 probably benign Het
Dusp1 T C 17: 26,506,321 N355D probably benign Het
Fam76b T C 9: 13,829,750 C60R probably damaging Het
Gnptab G A 10: 88,436,179 V944I possibly damaging Het
Gys1 A G 7: 45,442,537 Y249C probably damaging Het
Ift88 A T 14: 57,444,405 E215D probably damaging Het
Kcnu1 T C 8: 25,934,523 probably benign Het
Lmln C A 16: 33,117,120 N618K probably benign Het
Lrrc75a T C 11: 62,605,987 T250A probably damaging Het
Mpp4 A G 1: 59,125,560 S435P probably damaging Het
Myo1c T A 11: 75,672,250 V1036E probably damaging Het
Nlrp12 T G 7: 3,240,686 T399P probably damaging Het
Olfr1223 A G 2: 89,144,231 F264S possibly damaging Het
Olfr1388 A G 11: 49,444,768 R306G probably benign Het
Parp8 A T 13: 116,895,064 C332S possibly damaging Het
Pdcd11 G A 19: 47,109,614 V780I probably benign Het
Plekha5 A G 6: 140,534,566 probably benign Het
Ppt1 T A 4: 122,844,055 I62K probably damaging Het
Proser3 T C 7: 30,549,646 N7S probably benign Het
Ptk2b A G 14: 66,177,118 L311P possibly damaging Het
Rasal2 T C 1: 157,161,216 N706S probably benign Het
Ripk2 A G 4: 16,132,775 probably null Het
Setx T A 2: 29,144,809 H435Q probably damaging Het
Smurf2 T A 11: 106,830,915 probably benign Het
Snx32 A G 19: 5,497,736 L182P possibly damaging Het
Stpg2 A G 3: 139,419,874 probably benign Het
Taar2 A G 10: 23,941,099 Y179C probably damaging Het
Tenm2 G A 11: 36,027,405 R1843* probably null Het
Tmco4 T C 4: 139,020,949 I280T probably damaging Het
Tuba4a C A 1: 75,217,277 C46F probably damaging Het
Ubr1 A G 2: 120,873,122 probably null Het
Vldlr A T 19: 27,239,681 I45L possibly damaging Het
Vmn2r120 C A 17: 57,545,232 G28V probably benign Het
Vmn2r37 C A 7: 9,206,681 V611L probably benign Het
Vmn2r67 A G 7: 85,136,919 L626P probably damaging Het
Wdr19 C T 5: 65,221,739 probably benign Het
Zfp595 T A 13: 67,316,685 K505* probably null 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
IGL01111:4930402H24Rik APN 2 130736598 missense possibly damaging 0.66
IGL01146:4930402H24Rik APN 2 130770671 critical splice donor site probably null
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 On2013-10-07