Incidental Mutation 'IGL01457:4930455H04Rik'
ID 84858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930455H04Rik
Ensembl Gene ENSMUSG00000080907
Gene Name RIKEN cDNA 4930455H04 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL01457
Quality Score
Status
Chromosome 3
Chromosomal Location 116761916-116778055 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 116762200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040097] [ENSMUST00000117592] [ENSMUST00000119557] [ENSMUST00000143611]
AlphaFold D3Z622
Predicted Effect probably benign
Transcript: ENSMUST00000040097
SMART Domains Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:Paralemmin 65 512 3.6e-57 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000117592
AA Change: V17G
Predicted Effect probably benign
Transcript: ENSMUST00000119557
SMART Domains Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:Paralemmin 64 278 6.6e-14 PFAM
Pfam:Paralemmin 323 515 1.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143611
SMART Domains Protein: ENSMUSP00000122725
Gene: ENSMUSG00000033377

DomainStartEndE-ValueType
coiled coil region 4 94 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197659
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,382,908 (GRCm39) Y1019F probably benign Het
9830107B12Rik A T 17: 48,439,193 (GRCm39) probably benign Het
Abcc8 A G 7: 45,784,917 (GRCm39) V737A possibly damaging Het
Adamts20 T A 15: 94,229,329 (GRCm39) Y930F probably damaging Het
Alkbh8 T A 9: 3,369,825 (GRCm39) F365I probably damaging Het
App G A 16: 84,900,127 (GRCm39) H108Y probably damaging Het
Bfsp1 T C 2: 143,669,564 (GRCm39) probably benign Het
Bltp3b T C 10: 89,641,624 (GRCm39) S932P probably benign Het
Cabin1 T C 10: 75,578,263 (GRCm39) N478S probably damaging Het
Camsap3 G A 8: 3,654,795 (GRCm39) V796I probably damaging Het
Carns1 A T 19: 4,216,498 (GRCm39) probably null Het
Ccdc121 A T 5: 31,644,771 (GRCm39) I175L probably benign Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cltc C T 11: 86,593,074 (GRCm39) M1600I probably benign Het
Cnot1 T A 8: 96,467,637 (GRCm39) N1499Y probably damaging Het
Crebbp T A 16: 3,942,632 (GRCm39) I196L probably damaging Het
Drc3 C A 11: 60,249,475 (GRCm39) probably benign Het
Fam161a T A 11: 22,970,702 (GRCm39) Y234* probably null Het
Il1r1 C A 1: 40,352,330 (GRCm39) P500Q probably damaging Het
Katnal1 G T 5: 148,830,607 (GRCm39) probably benign Het
Klhdc2 A G 12: 69,343,827 (GRCm39) N20S probably benign Het
Kmt2e A T 5: 23,707,017 (GRCm39) T1527S possibly damaging Het
Magi1 C T 6: 93,724,205 (GRCm39) G270D probably damaging Het
Mdn1 T A 4: 32,715,922 (GRCm39) S2035T possibly damaging Het
Mki67 A T 7: 135,301,275 (GRCm39) M1253K probably benign Het
Myh7 T C 14: 55,226,336 (GRCm39) M435V possibly damaging Het
Myh8 A G 11: 67,183,505 (GRCm39) I739V probably benign Het
Npnt T C 3: 132,591,743 (GRCm39) K430R probably damaging Het
Nrdc A G 4: 108,904,857 (GRCm39) N696S probably benign Het
Oit3 T C 10: 59,261,306 (GRCm39) probably benign Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or51s1 A G 7: 102,558,926 (GRCm39) I40T possibly damaging Het
Or5bw2 A G 7: 6,573,211 (GRCm39) T74A probably benign Het
Or5p6 A T 7: 107,631,328 (GRCm39) I74K possibly damaging Het
Pkd1 G A 17: 24,813,795 (GRCm39) probably null Het
Plat A G 8: 23,266,844 (GRCm39) M279V probably benign Het
Prkd1 A T 12: 50,439,693 (GRCm39) L378* probably null Het
Rasgef1a C T 6: 118,061,506 (GRCm39) T157I probably benign Het
Rbm22 A G 18: 60,693,929 (GRCm39) N11S probably damaging Het
Ros1 T C 10: 51,922,426 (GRCm39) probably benign Het
Sema6d T A 2: 124,495,562 (GRCm39) F3Y unknown Het
Sis T C 3: 72,868,354 (GRCm39) D112G probably benign Het
Slit1 C A 19: 41,599,483 (GRCm39) G1023C probably damaging Het
Spata31h1 C A 10: 82,120,568 (GRCm39) K4147N probably damaging Het
Sptb T C 12: 76,659,329 (GRCm39) probably benign Het
Sspo T C 6: 48,475,277 (GRCm39) I4881T probably benign Het
Supt6 C A 11: 78,111,969 (GRCm39) D1038Y probably damaging Het
Tbc1d2b A T 9: 90,087,144 (GRCm39) L945Q probably damaging Het
Tgfbr3 G T 5: 107,297,764 (GRCm39) A212E probably damaging Het
Tipin A G 9: 64,211,690 (GRCm39) T259A probably benign Het
Traip T C 9: 107,847,671 (GRCm39) S365P probably benign Het
Tst T C 15: 78,283,967 (GRCm39) T287A probably benign Het
Tube1 C T 10: 39,021,718 (GRCm39) probably benign Het
Vmn1r37 T A 6: 66,708,393 (GRCm39) N6K probably damaging Het
Vmn2r111 C A 17: 22,790,966 (GRCm39) E111* probably null Het
Vmn2r17 C T 5: 109,600,898 (GRCm39) T732I probably benign Het
Vmn2r69 A T 7: 85,055,836 (GRCm39) D767E possibly damaging Het
Other mutations in 4930455H04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6730:4930455H04Rik UTSW 3 116,777,124 (GRCm39) makesense probably null
R7276:4930455H04Rik UTSW 3 116,762,227 (GRCm39) missense unknown
R8937:4930455H04Rik UTSW 3 116,762,120 (GRCm39) intron probably benign
Posted On 2013-11-11