Incidental Mutation 'IGL01895:2410089E03Rik'
ID 179352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2410089E03Rik
Ensembl Gene ENSMUSG00000039801
Gene Name RIKEN cDNA 2410089E03 gene
Synonyms b2b012Clo
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01895
Quality Score
Status
Chromosome 15
Chromosomal Location 8169106-8271158 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8229107 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 2279 (V2279E)
Ref Sequence ENSEMBL: ENSMUSP00000106247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110617] [ENSMUST00000228039]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000110617
AA Change: V2279E

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106247
Gene: ENSMUSG00000039801
AA Change: V2279E

DomainStartEndE-ValueType
low complexity region 144 157 N/A INTRINSIC
low complexity region 338 352 N/A INTRINSIC
low complexity region 466 476 N/A INTRINSIC
low complexity region 868 883 N/A INTRINSIC
low complexity region 949 962 N/A INTRINSIC
low complexity region 1400 1415 N/A INTRINSIC
low complexity region 1449 1464 N/A INTRINSIC
low complexity region 1827 1838 N/A INTRINSIC
low complexity region 1919 1930 N/A INTRINSIC
low complexity region 2130 2145 N/A INTRINSIC
coiled coil region 2750 2782 N/A INTRINSIC
low complexity region 2838 2850 N/A INTRINSIC
Pfam:Joubert 2894 3207 1.9e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228039
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
PHENOTYPE: Homozygotes exhibit double outlet right ventricle {SDD}, pulmonary atresia/hypolastic pulmonary artery, atrioventricular septal defect, and right aortic arch. Non-cardiovascular defects include cleft palate, polydactyly, transparent chest wall (sternal bone hypoplasia) and hypoplastic lungs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 46,029,058 (GRCm38) I56N possibly damaging Het
Akr1c13 A T 13: 4,205,373 (GRCm38) E321V possibly damaging Het
Atp8b3 A T 10: 80,521,828 (GRCm38) V1119D possibly damaging Het
Cacna1e G T 1: 154,443,900 (GRCm38) F1351L probably damaging Het
Cadps2 A G 6: 23,427,275 (GRCm38) W585R probably damaging Het
Ccdc113 C T 8: 95,536,458 (GRCm38) probably benign Het
Ccer1 A T 10: 97,694,050 (GRCm38) I192F unknown Het
Chd8 T C 14: 52,199,094 (GRCm38) N90S probably benign Het
Clca3a1 A T 3: 144,747,572 (GRCm38) C463* probably null Het
Cyp2c65 T A 19: 39,072,232 (GRCm38) C179S possibly damaging Het
Dennd4b A G 3: 90,275,567 (GRCm38) Q35R probably benign Het
Enpep T C 3: 129,270,334 (GRCm38) E928G possibly damaging Het
Fem1c T C 18: 46,505,562 (GRCm38) T458A probably benign Het
Fezf2 A T 14: 12,342,498 (GRCm38) *456R probably null Het
Gm10718 A T 9: 3,025,118 (GRCm38) Y194F probably benign Het
Gm14085 A C 2: 122,525,091 (GRCm38) Y588S possibly damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Iqcm T G 8: 75,888,560 (GRCm38) L423R probably damaging Het
Kcnc4 C A 3: 107,448,218 (GRCm38) V305L probably benign Het
Kif1a G A 1: 93,025,733 (GRCm38) T1337I possibly damaging Het
Lpxn A G 19: 12,833,086 (GRCm38) D298G probably damaging Het
Lypd8 A G 11: 58,390,220 (GRCm38) T203A possibly damaging Het
Mrps28 C T 3: 8,900,059 (GRCm38) V107M probably damaging Het
Myo15b A G 11: 115,883,498 (GRCm38) E586G possibly damaging Het
Pdzk1 C T 3: 96,869,101 (GRCm38) A459V possibly damaging Het
Rbpj A G 5: 53,651,386 (GRCm38) D285G probably damaging Het
Rimbp3 T C 16: 17,211,436 (GRCm38) L908P probably damaging Het
Samd4b T C 7: 28,401,909 (GRCm38) probably null Het
Stau2 C T 1: 16,345,937 (GRCm38) G401S probably damaging Het
Trpa1 A T 1: 14,887,643 (GRCm38) I697K possibly damaging Het
Ttc17 A C 2: 94,375,146 (GRCm38) V285G possibly damaging Het
Unc5b A G 10: 60,767,085 (GRCm38) F845S probably damaging Het
Vmn1r19 A T 6: 57,405,260 (GRCm38) Q266L probably benign Het
Vmn2r106 T C 17: 20,278,965 (GRCm38) N228S probably benign Het
Vps13d A G 4: 145,156,266 (GRCm38) F919S possibly damaging Het
Zbtb38 C T 9: 96,688,408 (GRCm38) V208I probably benign Het
Zfp990 A T 4: 145,536,857 (GRCm38) T142S probably damaging Het
Zfp990 C A 4: 145,536,858 (GRCm38) T142N probably damaging Het
Other mutations in 2410089E03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:2410089E03Rik APN 15 8,264,447 (GRCm38) splice site probably benign
IGL00766:2410089E03Rik APN 15 8,252,164 (GRCm38) missense unknown
IGL01483:2410089E03Rik APN 15 8,187,107 (GRCm38) missense probably damaging 0.98
IGL01520:2410089E03Rik APN 15 8,221,911 (GRCm38) missense probably damaging 0.96
IGL01578:2410089E03Rik APN 15 8,270,710 (GRCm38) missense unknown
IGL01701:2410089E03Rik APN 15 8,203,257 (GRCm38) splice site probably benign
IGL01892:2410089E03Rik APN 15 8,242,265 (GRCm38) splice site probably benign
IGL01922:2410089E03Rik APN 15 8,270,821 (GRCm38) missense unknown
IGL01978:2410089E03Rik APN 15 8,219,382 (GRCm38) missense probably damaging 0.98
IGL02031:2410089E03Rik APN 15 8,179,769 (GRCm38) missense probably damaging 0.99
IGL02318:2410089E03Rik APN 15 8,175,025 (GRCm38) missense probably damaging 0.98
IGL02321:2410089E03Rik APN 15 8,216,572 (GRCm38) missense probably benign 0.04
IGL02363:2410089E03Rik APN 15 8,218,437 (GRCm38) missense possibly damaging 0.68
IGL02404:2410089E03Rik APN 15 8,187,284 (GRCm38) missense possibly damaging 0.48
IGL02535:2410089E03Rik APN 15 8,174,838 (GRCm38) missense probably damaging 1.00
IGL02732:2410089E03Rik APN 15 8,179,891 (GRCm38) missense probably benign 0.03
IGL02895:2410089E03Rik APN 15 8,232,107 (GRCm38) splice site probably benign
IGL02903:2410089E03Rik APN 15 8,269,778 (GRCm38) missense unknown
IGL02903:2410089E03Rik APN 15 8,269,779 (GRCm38) missense unknown
IGL02979:2410089E03Rik APN 15 8,218,554 (GRCm38) missense possibly damaging 0.82
IGL03077:2410089E03Rik APN 15 8,212,795 (GRCm38) splice site probably benign
IGL03196:2410089E03Rik APN 15 8,201,342 (GRCm38) missense probably damaging 0.98
IGL03344:2410089E03Rik APN 15 8,187,458 (GRCm38) missense possibly damaging 0.63
IGL03368:2410089E03Rik APN 15 8,222,373 (GRCm38) missense probably benign 0.06
IGL03403:2410089E03Rik APN 15 8,201,342 (GRCm38) missense probably damaging 0.98
agnes UTSW 15 8,246,938 (GRCm38) nonsense probably null
dei UTSW 15 8,186,165 (GRCm38) missense probably damaging 1.00
R0015:2410089E03Rik UTSW 15 8,186,184 (GRCm38) missense probably damaging 1.00
R0015:2410089E03Rik UTSW 15 8,186,184 (GRCm38) missense probably damaging 1.00
R0101:2410089E03Rik UTSW 15 8,220,960 (GRCm38) missense probably benign 0.00
R0105:2410089E03Rik UTSW 15 8,187,392 (GRCm38) missense probably benign
R0105:2410089E03Rik UTSW 15 8,187,392 (GRCm38) missense probably benign
R0165:2410089E03Rik UTSW 15 8,216,382 (GRCm38) missense probably damaging 1.00
R0306:2410089E03Rik UTSW 15 8,179,889 (GRCm38) missense probably damaging 1.00
R0433:2410089E03Rik UTSW 15 8,216,562 (GRCm38) missense probably benign 0.00
R0491:2410089E03Rik UTSW 15 8,182,243 (GRCm38) missense probably damaging 1.00
R0523:2410089E03Rik UTSW 15 8,194,386 (GRCm38) missense probably damaging 1.00
R0571:2410089E03Rik UTSW 15 8,259,793 (GRCm38) missense unknown
R0679:2410089E03Rik UTSW 15 8,223,122 (GRCm38) missense probably benign 0.39
R0704:2410089E03Rik UTSW 15 8,210,083 (GRCm38) missense possibly damaging 0.93
R0707:2410089E03Rik UTSW 15 8,258,321 (GRCm38) missense unknown
R0715:2410089E03Rik UTSW 15 8,223,092 (GRCm38) missense probably benign 0.14
R0762:2410089E03Rik UTSW 15 8,218,416 (GRCm38) unclassified probably benign
R0830:2410089E03Rik UTSW 15 8,247,185 (GRCm38) missense unknown
R0924:2410089E03Rik UTSW 15 8,251,070 (GRCm38) splice site probably benign
R1071:2410089E03Rik UTSW 15 8,218,426 (GRCm38) missense probably benign 0.20
R1184:2410089E03Rik UTSW 15 8,216,487 (GRCm38) missense probably benign
R1224:2410089E03Rik UTSW 15 8,178,385 (GRCm38) missense probably benign 0.06
R1416:2410089E03Rik UTSW 15 8,246,938 (GRCm38) nonsense probably null
R1428:2410089E03Rik UTSW 15 8,219,369 (GRCm38) missense possibly damaging 0.83
R1487:2410089E03Rik UTSW 15 8,186,231 (GRCm38) missense probably damaging 1.00
R1641:2410089E03Rik UTSW 15 8,228,959 (GRCm38) missense probably benign 0.41
R1652:2410089E03Rik UTSW 15 8,201,146 (GRCm38) missense probably damaging 1.00
R1688:2410089E03Rik UTSW 15 8,228,609 (GRCm38) missense probably benign 0.00
R1715:2410089E03Rik UTSW 15 8,226,900 (GRCm38) splice site probably null
R1820:2410089E03Rik UTSW 15 8,269,645 (GRCm38) missense unknown
R1863:2410089E03Rik UTSW 15 8,228,593 (GRCm38) missense probably benign 0.00
R1940:2410089E03Rik UTSW 15 8,233,852 (GRCm38) missense probably damaging 0.98
R1967:2410089E03Rik UTSW 15 8,203,420 (GRCm38) missense probably benign 0.09
R2064:2410089E03Rik UTSW 15 8,186,165 (GRCm38) missense probably damaging 1.00
R2076:2410089E03Rik UTSW 15 8,219,257 (GRCm38) missense possibly damaging 0.93
R2163:2410089E03Rik UTSW 15 8,203,251 (GRCm38) splice site probably null
R2208:2410089E03Rik UTSW 15 8,194,403 (GRCm38) missense probably benign 0.33
R2504:2410089E03Rik UTSW 15 8,219,216 (GRCm38) missense probably damaging 0.99
R2568:2410089E03Rik UTSW 15 8,201,269 (GRCm38) missense possibly damaging 0.70
R2845:2410089E03Rik UTSW 15 8,216,380 (GRCm38) missense probably damaging 1.00
R2913:2410089E03Rik UTSW 15 8,270,685 (GRCm38) missense unknown
R3056:2410089E03Rik UTSW 15 8,251,007 (GRCm38) missense unknown
R3706:2410089E03Rik UTSW 15 8,259,816 (GRCm38) missense unknown
R3707:2410089E03Rik UTSW 15 8,259,816 (GRCm38) missense unknown
R3870:2410089E03Rik UTSW 15 8,218,464 (GRCm38) missense probably damaging 0.98
R3877:2410089E03Rik UTSW 15 8,221,943 (GRCm38) missense probably benign
R3886:2410089E03Rik UTSW 15 8,171,805 (GRCm38) missense probably damaging 0.98
R4057:2410089E03Rik UTSW 15 8,219,025 (GRCm38) missense probably benign 0.08
R4090:2410089E03Rik UTSW 15 8,212,358 (GRCm38) splice site probably null
R4362:2410089E03Rik UTSW 15 8,270,745 (GRCm38) missense unknown
R4363:2410089E03Rik UTSW 15 8,270,745 (GRCm38) missense unknown
R4445:2410089E03Rik UTSW 15 8,252,188 (GRCm38) missense unknown
R4581:2410089E03Rik UTSW 15 8,171,798 (GRCm38) missense possibly damaging 0.85
R4587:2410089E03Rik UTSW 15 8,201,152 (GRCm38) missense possibly damaging 0.50
R4659:2410089E03Rik UTSW 15 8,216,276 (GRCm38) intron probably benign
R4663:2410089E03Rik UTSW 15 8,218,455 (GRCm38) missense probably benign 0.31
R4779:2410089E03Rik UTSW 15 8,218,838 (GRCm38) missense probably benign 0.04
R4812:2410089E03Rik UTSW 15 8,201,123 (GRCm38) splice site probably null
R4850:2410089E03Rik UTSW 15 8,262,938 (GRCm38) missense unknown
R4896:2410089E03Rik UTSW 15 8,221,937 (GRCm38) missense probably benign 0.00
R5273:2410089E03Rik UTSW 15 8,262,938 (GRCm38) missense unknown
R5273:2410089E03Rik UTSW 15 8,244,341 (GRCm38) missense probably damaging 0.98
R5303:2410089E03Rik UTSW 15 8,260,690 (GRCm38) splice site probably null
R5307:2410089E03Rik UTSW 15 8,260,690 (GRCm38) splice site probably null
R5308:2410089E03Rik UTSW 15 8,260,690 (GRCm38) splice site probably null
R5373:2410089E03Rik UTSW 15 8,270,803 (GRCm38) missense unknown
R5374:2410089E03Rik UTSW 15 8,270,803 (GRCm38) missense unknown
R5386:2410089E03Rik UTSW 15 8,194,413 (GRCm38) missense probably damaging 1.00
R5534:2410089E03Rik UTSW 15 8,228,835 (GRCm38) missense probably benign 0.06
R5720:2410089E03Rik UTSW 15 8,203,687 (GRCm38) missense probably benign 0.35
R5891:2410089E03Rik UTSW 15 8,188,589 (GRCm38) missense probably benign 0.00
R5932:2410089E03Rik UTSW 15 8,244,595 (GRCm38) splice site probably null
R6053:2410089E03Rik UTSW 15 8,188,461 (GRCm38) missense probably benign 0.35
R6166:2410089E03Rik UTSW 15 8,186,560 (GRCm38) missense probably benign 0.00
R6245:2410089E03Rik UTSW 15 8,178,418 (GRCm38) missense probably benign 0.01
R6246:2410089E03Rik UTSW 15 8,210,014 (GRCm38) missense probably damaging 1.00
R6541:2410089E03Rik UTSW 15 8,219,295 (GRCm38) missense possibly damaging 0.48
R6622:2410089E03Rik UTSW 15 8,244,222 (GRCm38) missense probably damaging 0.98
R6707:2410089E03Rik UTSW 15 8,223,122 (GRCm38) missense probably benign 0.39
R6729:2410089E03Rik UTSW 15 8,188,601 (GRCm38) splice site probably null
R6805:2410089E03Rik UTSW 15 8,244,306 (GRCm38) missense probably benign 0.07
R6806:2410089E03Rik UTSW 15 8,186,858 (GRCm38) missense possibly damaging 0.55
R6813:2410089E03Rik UTSW 15 8,229,282 (GRCm38) missense probably benign
R6830:2410089E03Rik UTSW 15 8,176,184 (GRCm38) missense probably benign 0.04
R6845:2410089E03Rik UTSW 15 8,221,904 (GRCm38) missense possibly damaging 0.84
R6894:2410089E03Rik UTSW 15 8,187,368 (GRCm38) missense probably damaging 0.99
R6970:2410089E03Rik UTSW 15 8,187,548 (GRCm38) missense probably benign 0.01
R6991:2410089E03Rik UTSW 15 8,252,206 (GRCm38) missense unknown
R7003:2410089E03Rik UTSW 15 8,228,762 (GRCm38) missense probably damaging 0.99
R7088:2410089E03Rik UTSW 15 8,218,947 (GRCm38) missense probably benign 0.16
R7104:2410089E03Rik UTSW 15 8,194,444 (GRCm38) missense possibly damaging 0.83
R7311:2410089E03Rik UTSW 15 8,180,915 (GRCm38) missense probably damaging 1.00
R7374:2410089E03Rik UTSW 15 8,247,247 (GRCm38) missense unknown
R7446:2410089E03Rik UTSW 15 8,232,080 (GRCm38) missense probably damaging 0.98
R7539:2410089E03Rik UTSW 15 8,201,244 (GRCm38) missense probably benign 0.19
R7543:2410089E03Rik UTSW 15 8,225,392 (GRCm38) missense unknown
R7558:2410089E03Rik UTSW 15 8,225,367 (GRCm38) missense unknown
R7629:2410089E03Rik UTSW 15 8,227,067 (GRCm38) nonsense probably null
R7635:2410089E03Rik UTSW 15 8,226,920 (GRCm38) missense probably benign 0.01
R7644:2410089E03Rik UTSW 15 8,223,127 (GRCm38) missense probably benign 0.00
R7705:2410089E03Rik UTSW 15 8,182,252 (GRCm38) missense probably damaging 1.00
R7752:2410089E03Rik UTSW 15 8,269,706 (GRCm38) missense unknown
R7754:2410089E03Rik UTSW 15 8,243,826 (GRCm38) missense possibly damaging 0.53
R7757:2410089E03Rik UTSW 15 8,252,227 (GRCm38) missense unknown
R7836:2410089E03Rik UTSW 15 8,203,757 (GRCm38) missense probably damaging 0.97
R7875:2410089E03Rik UTSW 15 8,209,962 (GRCm38) missense probably benign 0.18
R7901:2410089E03Rik UTSW 15 8,269,706 (GRCm38) missense unknown
R7983:2410089E03Rik UTSW 15 8,221,815 (GRCm38) missense probably benign 0.01
R8030:2410089E03Rik UTSW 15 8,230,303 (GRCm38) missense probably damaging 1.00
R8088:2410089E03Rik UTSW 15 8,186,318 (GRCm38) missense probably benign 0.00
R8231:2410089E03Rik UTSW 15 8,219,027 (GRCm38) missense probably benign 0.16
R8443:2410089E03Rik UTSW 15 8,201,151 (GRCm38) missense probably benign 0.03
R8480:2410089E03Rik UTSW 15 8,187,458 (GRCm38) missense possibly damaging 0.63
R8693:2410089E03Rik UTSW 15 8,229,008 (GRCm38) missense probably benign 0.15
R8785:2410089E03Rik UTSW 15 8,174,760 (GRCm38) missense probably benign 0.39
R8791:2410089E03Rik UTSW 15 8,187,260 (GRCm38) missense probably damaging 1.00
R8822:2410089E03Rik UTSW 15 8,171,778 (GRCm38) missense probably damaging 1.00
R8831:2410089E03Rik UTSW 15 8,182,136 (GRCm38) missense probably benign 0.09
R8932:2410089E03Rik UTSW 15 8,194,375 (GRCm38) missense probably damaging 1.00
R8968:2410089E03Rik UTSW 15 8,201,281 (GRCm38) missense possibly damaging 0.84
R8973:2410089E03Rik UTSW 15 8,203,793 (GRCm38) missense probably damaging 1.00
R9036:2410089E03Rik UTSW 15 8,223,138 (GRCm38) missense possibly damaging 0.63
R9134:2410089E03Rik UTSW 15 8,199,232 (GRCm38) missense probably damaging 0.99
R9197:2410089E03Rik UTSW 15 8,251,052 (GRCm38) missense unknown
R9259:2410089E03Rik UTSW 15 8,203,303 (GRCm38) missense possibly damaging 0.82
R9269:2410089E03Rik UTSW 15 8,219,016 (GRCm38) missense probably damaging 0.97
R9294:2410089E03Rik UTSW 15 8,203,327 (GRCm38) missense probably benign 0.00
R9328:2410089E03Rik UTSW 15 8,186,208 (GRCm38) missense probably damaging 1.00
R9563:2410089E03Rik UTSW 15 8,187,079 (GRCm38) missense probably benign 0.20
R9680:2410089E03Rik UTSW 15 8,202,301 (GRCm38) missense possibly damaging 0.68
R9721:2410089E03Rik UTSW 15 8,225,409 (GRCm38) missense unknown
R9779:2410089E03Rik UTSW 15 8,201,302 (GRCm38) missense possibly damaging 0.93
R9780:2410089E03Rik UTSW 15 8,228,639 (GRCm38) missense probably benign 0.00
U24488:2410089E03Rik UTSW 15 8,182,210 (GRCm38) missense probably damaging 1.00
X0023:2410089E03Rik UTSW 15 8,247,031 (GRCm38) missense unknown
Z1177:2410089E03Rik UTSW 15 8,209,989 (GRCm38) missense probably damaging 0.98
Z1177:2410089E03Rik UTSW 15 8,174,972 (GRCm38) missense probably damaging 1.00
Posted On 2014-05-07