Incidental Mutation 'IGL03328:Rttn'
ID416745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rttn
Ensembl Gene ENSMUSG00000023066
Gene Namerotatin
SynonymsC530033I08Rik, 4921538A15Rik
Accession Numbers

Ncbi RefSeq: NM_175542.3; MGI:2179288

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03328
Quality Score
Status
Chromosome18
Chromosomal Location88971790-89131013 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 89043028 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 1107 (S1107A)
Ref Sequence ENSEMBL: ENSMUSP00000023828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023828]
Predicted Effect probably benign
Transcript: ENSMUST00000023828
AA Change: S1107A

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: S1107A

DomainStartEndE-ValueType
Pfam:RTTN_N 16 112 1.2e-36 PFAM
low complexity region 188 199 N/A INTRINSIC
Blast:ARM 216 261 9e-18 BLAST
low complexity region 302 319 N/A INTRINSIC
low complexity region 335 341 N/A INTRINSIC
SCOP:d1gw5a_ 515 952 9e-3 SMART
Blast:ARM 863 910 4e-8 BLAST
low complexity region 972 985 N/A INTRINSIC
low complexity region 1165 1176 N/A INTRINSIC
low complexity region 1213 1222 N/A INTRINSIC
low complexity region 1680 1698 N/A INTRINSIC
low complexity region 1861 1879 N/A INTRINSIC
Blast:ARM 2088 2129 1e-10 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 2674124
Lethality: E9-E12
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for an insertional mutation exhibit embryonic lethality and neurulation defects resulting in the arrest of gastrulation movements and abnormal left-right specification in the heart. [provided by MGI curators]
Allele List at MGI

All alleles(15) : Targeted(2) Gene trapped(12) Transgenic(1)

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A T 2: 23,212,805 Y185F possibly damaging Het
Acaca A T 11: 84,320,529 M1556L probably benign Het
Aicda T G 6: 122,562,437 D187E probably benign Het
Arfgap3 A C 15: 83,343,081 F43L probably damaging Het
AW551984 T C 9: 39,597,116 E368G probably damaging Het
Bbs4 T C 9: 59,344,118 E33G probably damaging Het
Bcas1 T A 2: 170,366,396 K437* probably null Het
Brwd1 A T 16: 96,002,725 W2082R probably damaging Het
Card6 A T 15: 5,105,445 probably benign Het
Cd200r4 A G 16: 44,833,519 I226M possibly damaging Het
Cep57l1 T C 10: 41,743,152 E73G probably damaging Het
Chaf1a T G 17: 56,063,374 F613C probably damaging Het
Clybl G T 14: 122,401,994 K323N probably damaging Het
Coa7 A G 4: 108,338,282 D136G probably damaging Het
Col5a2 C A 1: 45,376,146 V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,847 probably benign Het
Cyp4f17 T G 17: 32,520,626 M174R probably damaging Het
Dnah10 A T 5: 124,754,290 D794V probably benign Het
Eapp A G 12: 54,692,093 S87P probably benign Het
Efnb3 A G 11: 69,557,205 I137T probably damaging Het
Eif4e T A 3: 138,553,727 probably benign Het
Fam83b T A 9: 76,493,042 I260L probably benign Het
Fras1 A G 5: 96,781,760 T4008A probably damaging Het
Fut8 A T 12: 77,365,229 R118W probably damaging Het
Glt1d1 A C 5: 127,657,119 D119A probably benign Het
Gm3727 T A 14: 7,261,685 *206C probably null Het
Gmip G A 8: 69,811,611 V174M possibly damaging Het
Gtf2ird1 A G 5: 134,389,129 probably null Het
Haao C T 17: 83,846,649 C23Y probably damaging Het
Hip1 A T 5: 135,424,874 V400E probably damaging Het
Keg1 A G 19: 12,719,097 N215S probably damaging Het
Lss T G 10: 76,540,951 I334S probably damaging Het
Lyn A C 4: 3,745,327 E77D probably benign Het
Myo3a A G 2: 22,578,198 E1426G probably benign Het
Ncapg2 A G 12: 116,440,057 E863G possibly damaging Het
Ncl T C 1: 86,352,597 Y496C probably damaging Het
Nefm A T 14: 68,121,290 S432T probably benign Het
Nipsnap1 A G 11: 4,884,096 Y95C possibly damaging Het
Npc1l1 C A 11: 6,218,643 E913* probably null Het
Nup205 T C 6: 35,232,414 L1552P probably damaging Het
Olfr1217 G T 2: 89,023,855 Y49* probably null Het
Olfr1356 C T 10: 78,847,367 E183K probably benign Het
Olfr325 A G 11: 58,581,713 N290D probably damaging Het
Olfr652 T A 7: 104,564,470 V83D probably damaging Het
Osm A C 11: 4,238,426 I18L unknown Het
Otoa T A 7: 121,110,994 S254R probably damaging Het
Parp1 T C 1: 180,599,590 probably benign Het
Pcdh17 A G 14: 84,533,111 I1010V probably benign Het
Peli2 A T 14: 48,252,575 probably null Het
Pkd1l3 T G 8: 109,662,106 probably benign Het
Pkhd1 A G 1: 20,081,300 probably benign Het
Polg2 A C 11: 106,768,337 V450G probably benign Het
Ptpn13 A T 5: 103,516,348 T401S probably benign Het
Rgs22 C T 15: 36,043,204 probably null Het
Scn5a G T 9: 119,537,636 N328K probably benign Het
Sned1 G A 1: 93,289,367 A1325T probably benign Het
St8sia4 T A 1: 95,660,870 E80V probably benign Het
Stard7 T C 2: 127,292,256 probably benign Het
Suco G T 1: 161,820,421 P1099T probably damaging Het
Syn2 G T 6: 115,274,260 C459F probably damaging Het
Tas2r117 A C 6: 132,803,078 I60L probably benign Het
Tcrg-C4 A G 13: 19,352,246 Y158C unknown Het
Tomm70a T C 16: 57,144,787 C445R probably damaging Het
Tpsab1 T A 17: 25,345,128 D87V probably benign Het
Trpm6 A T 19: 18,838,082 E1177D possibly damaging Het
Vmn2r71 A T 7: 85,624,291 D771V probably damaging Het
Vmn2r93 A T 17: 18,304,958 T293S probably damaging Het
Other mutations in Rttn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Rttn APN 18 88974340 missense probably benign 0.00
IGL00788:Rttn APN 18 88972509 missense probably benign 0.00
IGL00929:Rttn APN 18 89028935 missense probably damaging 1.00
IGL01392:Rttn APN 18 88995613 missense probably benign 0.03
IGL01395:Rttn APN 18 89129770 missense possibly damaging 0.89
IGL01701:Rttn APN 18 89064215 missense probably damaging 1.00
IGL02136:Rttn APN 18 89046128 missense possibly damaging 0.87
IGL02151:Rttn APN 18 89020205 missense probably damaging 1.00
IGL02165:Rttn APN 18 89043041 missense probably benign
IGL02228:Rttn APN 18 89042231 missense probably damaging 1.00
IGL02276:Rttn APN 18 89048454 missense possibly damaging 0.94
IGL02612:Rttn APN 18 88973626 missense probably damaging 1.00
IGL02645:Rttn APN 18 89110686 missense probably benign 0.04
IGL02716:Rttn APN 18 89048417 missense possibly damaging 0.77
IGL02820:Rttn APN 18 89028998 missense probably damaging 1.00
IGL02961:Rttn APN 18 89053573 missense probably damaging 1.00
IGL02973:Rttn APN 18 88972494 missense probably damaging 1.00
IGL03027:Rttn APN 18 88979690 missense probably damaging 1.00
IGL03082:Rttn APN 18 88983948 missense probably damaging 1.00
IGL03121:Rttn APN 18 88975751 missense probably damaging 1.00
IGL03135:Rttn APN 18 89015150 missense probably damaging 1.00
R0062:Rttn UTSW 18 89010966 critical splice donor site probably null
R0062:Rttn UTSW 18 89010966 critical splice donor site probably null
R0310:Rttn UTSW 18 89009460 splice site probably benign
R0330:Rttn UTSW 18 88986080 splice site probably null
R0363:Rttn UTSW 18 89010955 missense probably damaging 1.00
R0485:Rttn UTSW 18 89090419 splice site probably benign
R0590:Rttn UTSW 18 88979635 missense probably damaging 1.00
R0601:Rttn UTSW 18 89042966 missense probably benign 0.00
R0604:Rttn UTSW 18 88977758 missense probably damaging 1.00
R0631:Rttn UTSW 18 88989546 missense probably benign 0.00
R0882:Rttn UTSW 18 88973689 nonsense probably null
R0885:Rttn UTSW 18 88983810 missense probably benign 0.03
R0900:Rttn UTSW 18 89101691 missense probably benign 0.13
R1077:Rttn UTSW 18 89064249 missense probably damaging 1.00
R1444:Rttn UTSW 18 89042867 missense probably benign 0.04
R1460:Rttn UTSW 18 89109357 splice site probably benign
R1517:Rttn UTSW 18 89113350 missense probably benign 0.01
R1630:Rttn UTSW 18 89042954 missense probably benign 0.02
R1632:Rttn UTSW 18 89009336 missense probably benign 0.18
R1722:Rttn UTSW 18 88973531 missense probably benign 0.34
R1755:Rttn UTSW 18 89009317 missense probably damaging 1.00
R1881:Rttn UTSW 18 89015212 missense probably damaging 0.96
R1971:Rttn UTSW 18 89090433 missense probably benign
R2035:Rttn UTSW 18 89020216 missense probably damaging 1.00
R2109:Rttn UTSW 18 88986073 missense possibly damaging 0.93
R2191:Rttn UTSW 18 89095648 critical splice donor site probably null
R2201:Rttn UTSW 18 89010943 missense possibly damaging 0.88
R2266:Rttn UTSW 18 89064171 missense probably benign 0.05
R3014:Rttn UTSW 18 89014620 missense probably damaging 1.00
R3052:Rttn UTSW 18 89015246 splice site probably benign
R3427:Rttn UTSW 18 89095651 splice site probably null
R3431:Rttn UTSW 18 89095571 missense probably benign 0.04
R3786:Rttn UTSW 18 89037894 missense probably benign 0.00
R3803:Rttn UTSW 18 88977707 missense probably damaging 0.96
R3980:Rttn UTSW 18 89017275 missense probably benign 0.12
R4035:Rttn UTSW 18 88995653 missense probably benign 0.03
R4170:Rttn UTSW 18 88975723 missense probably damaging 1.00
R4223:Rttn UTSW 18 89095584 missense probably damaging 1.00
R4273:Rttn UTSW 18 89091896 missense probably benign
R4517:Rttn UTSW 18 89028973 missense probably damaging 0.99
R4674:Rttn UTSW 18 89011011 intron probably null
R4837:Rttn UTSW 18 89090415 splice site probably null
R4869:Rttn UTSW 18 89043014 nonsense probably null
R4881:Rttn UTSW 18 89101685 missense probably damaging 1.00
R4959:Rttn UTSW 18 89042168 missense probably damaging 1.00
R4973:Rttn UTSW 18 89042168 missense probably damaging 1.00
R4975:Rttn UTSW 18 89064085 intron probably null
R5166:Rttn UTSW 18 89013094 missense possibly damaging 0.48
R5243:Rttn UTSW 18 89108063 missense possibly damaging 0.74
R5594:Rttn UTSW 18 89090436 missense possibly damaging 0.95
R5654:Rttn UTSW 18 89048432 missense probably benign
R5794:Rttn UTSW 18 88995569 missense probably benign 0.18
R5799:Rttn UTSW 18 89037946 missense probably damaging 0.99
R5955:Rttn UTSW 18 89121009 missense probably damaging 0.99
R5963:Rttn UTSW 18 89073695 missense probably benign 0.01
R5989:Rttn UTSW 18 88973626 missense probably damaging 1.00
R6004:Rttn UTSW 18 89021692 missense probably damaging 0.96
R6132:Rttn UTSW 18 89115646 critical splice donor site probably null
R6430:Rttn UTSW 18 89021685 missense probably null 0.18
R6436:Rttn UTSW 18 89110729 missense probably damaging 1.00
R6681:Rttn UTSW 18 89014611 missense probably damaging 1.00
R6994:Rttn UTSW 18 89028899 missense probably damaging 1.00
R7049:Rttn UTSW 18 89064216 missense probably damaging 1.00
R7078:Rttn UTSW 18 89009422 missense probably benign 0.03
R7083:Rttn UTSW 18 89090598 missense probably damaging 1.00
R7250:Rttn UTSW 18 88989523 missense probably benign 0.03
R7402:Rttn UTSW 18 88985911 missense possibly damaging 0.92
R7565:Rttn UTSW 18 89060479 missense probably damaging 1.00
R7588:Rttn UTSW 18 89064229 missense probably damaging 0.97
X0017:Rttn UTSW 18 89113402 missense probably benign 0.01
X0022:Rttn UTSW 18 88973667 nonsense probably null
Posted On2016-08-02