Incidental Mutation 'IGL01314:4930430F08Rik'
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ID73804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930430F08Rik
Ensembl Gene ENSMUSG00000046567
Gene NameRIKEN cDNA 4930430F08 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL01314
Quality Score
Status
Chromosome10
Chromosomal Location100572265-100590423 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 100573611 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 313 (D313E)
Ref Sequence ENSEMBL: ENSMUSP00000062410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054471] [ENSMUST00000164751] [ENSMUST00000218821] [ENSMUST00000219765] [ENSMUST00000220346]
Predicted Effect probably damaging
Transcript: ENSMUST00000054471
AA Change: D313E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000164751
SMART Domains Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971

DomainStartEndE-ValueType
coiled coil region 59 298 N/A INTRINSIC
coiled coil region 319 566 N/A INTRINSIC
coiled coil region 598 662 N/A INTRINSIC
coiled coil region 697 754 N/A INTRINSIC
coiled coil region 780 875 N/A INTRINSIC
internal_repeat_2 884 894 1.1e-5 PROSPERO
coiled coil region 986 1028 N/A INTRINSIC
internal_repeat_2 1057 1067 1.1e-5 PROSPERO
coiled coil region 1071 1109 N/A INTRINSIC
low complexity region 1140 1156 N/A INTRINSIC
internal_repeat_1 1176 1206 8.72e-8 PROSPERO
coiled coil region 1221 1250 N/A INTRINSIC
Pfam:CEP209_CC5 1290 1417 3.8e-55 PFAM
low complexity region 1476 1493 N/A INTRINSIC
internal_repeat_1 1498 1525 8.72e-8 PROSPERO
coiled coil region 1535 1595 N/A INTRINSIC
coiled coil region 1624 1716 N/A INTRINSIC
coiled coil region 1776 2328 N/A INTRINSIC
low complexity region 2333 2347 N/A INTRINSIC
coiled coil region 2377 2453 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218156
Predicted Effect probably benign
Transcript: ENSMUST00000218328
Predicted Effect probably benign
Transcript: ENSMUST00000218821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219698
Predicted Effect probably benign
Transcript: ENSMUST00000219765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219790
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219995
Predicted Effect probably benign
Transcript: ENSMUST00000220346
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,071,853 A161V probably benign Het
Bptf A T 11: 107,054,853 V2520E probably damaging Het
C87436 T C 6: 86,457,855 F395S probably damaging Het
Capn1 T C 19: 5,989,984 probably benign Het
Ceacam5 T A 7: 17,747,256 Y309* probably null Het
Clasp2 A G 9: 113,906,127 D1011G possibly damaging Het
Csmd3 A G 15: 47,849,755 Y1608H probably damaging Het
Dcaf1 T C 9: 106,834,191 I77T probably benign Het
Dcdc2a T C 13: 25,102,604 L170P probably damaging Het
Ddx28 A G 8: 106,010,580 F282S probably damaging Het
Egf A G 3: 129,686,260 I497T probably benign Het
Emsy A G 7: 98,593,455 V1159A probably benign Het
Fam46c T C 3: 100,473,174 K89E probably benign Het
Hk3 C A 13: 55,007,063 probably benign Het
Htt A G 5: 34,878,856 D2049G probably benign Het
Inpp5d C A 1: 87,683,750 S45* probably null Het
Irf8 A G 8: 120,753,380 Y119C probably damaging Het
Klk1b4 T C 7: 44,211,176 probably null Het
Macf1 A G 4: 123,486,720 S1273P probably damaging Het
Man2c1 A T 9: 57,141,819 H867L probably benign Het
Mgat4e T C 1: 134,541,449 T286A probably damaging Het
Mug2 T C 6: 122,081,279 F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 E128D probably damaging Het
Olfr1331 G A 4: 118,869,131 V117I probably benign Het
Pds5a A G 5: 65,615,294 V1322A probably benign Het
Poc1b C T 10: 99,129,641 T144I probably damaging Het
Prcc T A 3: 87,870,080 N196Y probably damaging Het
Psma5 G A 3: 108,279,795 V237M possibly damaging Het
Rap1gds1 A G 3: 139,050,561 L11P probably damaging Het
Rapgef3 A G 15: 97,748,223 F132S probably damaging Het
Rgs13 T G 1: 144,171,441 D14A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tcerg1 C A 18: 42,573,309 A1017D probably damaging Het
Tmem79 T C 3: 88,332,576 I276V possibly damaging Het
Tmem94 C A 11: 115,790,009 H113N probably damaging Het
Vil1 G A 1: 74,428,238 D715N probably damaging Het
Vmn2r96 A G 17: 18,582,964 T187A probably benign Het
Zfhx4 T A 3: 5,413,094 S3590T probably damaging Het
Other mutations in 4930430F08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:4930430F08Rik APN 10 100583937 missense probably benign 0.41
R0206:4930430F08Rik UTSW 10 100586194 nonsense probably null
R0731:4930430F08Rik UTSW 10 100586203 missense probably damaging 1.00
R1955:4930430F08Rik UTSW 10 100577304 missense probably damaging 1.00
R2011:4930430F08Rik UTSW 10 100583958 missense probably damaging 0.99
R4680:4930430F08Rik UTSW 10 100578381 missense probably benign 0.07
R4682:4930430F08Rik UTSW 10 100578381 missense probably benign 0.07
R4683:4930430F08Rik UTSW 10 100578381 missense probably benign 0.07
R4708:4930430F08Rik UTSW 10 100578381 missense probably benign 0.07
R4709:4930430F08Rik UTSW 10 100578381 missense probably benign 0.07
R4742:4930430F08Rik UTSW 10 100578381 missense probably benign 0.07
R4743:4930430F08Rik UTSW 10 100578381 missense probably benign 0.07
R6716:4930430F08Rik UTSW 10 100573616 missense probably benign 0.00
Posted On2013-10-07