Incidental Mutation 'R0330:Rttn'
ID 26017
Institutional Source Beutler Lab
Gene Symbol Rttn
Ensembl Gene ENSMUSG00000023066
Gene Name rotatin
Synonyms C530033I08Rik, 4921538A15Rik
MMRRC Submission 038539-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0330 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 88989914-89149140 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 89004204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023828]
AlphaFold Q8R4Y8
Predicted Effect probably null
Transcript: ENSMUST00000023828
SMART Domains Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066

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
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency
MGI Phenotype 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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,983,038 (GRCm39) N120S probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
AI661453 G A 17: 47,757,571 (GRCm39) R76Q probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arhgap12 T A 18: 6,039,382 (GRCm39) D455V probably damaging Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Arhgef12 A C 9: 42,931,982 (GRCm39) H168Q probably damaging Het
Arhgef2 A G 3: 88,549,808 (GRCm39) H592R probably damaging Het
BC049715 A G 6: 136,817,035 (GRCm39) T92A possibly damaging Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Capn8 T A 1: 182,457,703 (GRCm39) I689N probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cep57 G A 9: 13,728,281 (GRCm39) R148W probably damaging Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Chd3 T G 11: 69,247,159 (GRCm39) D1003A probably damaging Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cldn13 A G 5: 134,944,176 (GRCm39) V3A probably benign Het
Col17a1 T C 19: 47,658,871 (GRCm39) T413A probably benign Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fanca A T 8: 124,000,911 (GRCm39) C1156* probably null Het
Flot2 T A 11: 77,949,784 (GRCm39) I322N possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gli3 T G 13: 15,898,143 (GRCm39) L741R probably damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Gtf2i T C 5: 134,280,740 (GRCm39) E518G probably damaging Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Impg2 A G 16: 56,072,627 (GRCm39) Y353C probably damaging Het
Kank1 A G 19: 25,401,677 (GRCm39) K1095E probably benign Het
Kcnh4 C T 11: 100,648,569 (GRCm39) C45Y probably damaging Het
Kif13b A G 14: 65,040,669 (GRCm39) T1590A probably benign Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrp1b A T 2: 40,591,773 (GRCm39) C73* probably null Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Med12l A G 3: 59,135,123 (GRCm39) E757G probably damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myof A C 19: 37,924,326 (GRCm39) I1297S probably damaging Het
Nacad A G 11: 6,550,903 (GRCm39) S763P probably benign Het
Nbea A G 3: 55,550,238 (GRCm39) V2730A probably benign Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Optn A T 2: 5,039,066 (GRCm39) N352K possibly damaging Het
Or10k2 A G 8: 84,268,142 (GRCm39) Y123C probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7g16 A G 9: 18,726,937 (GRCm39) Y218H probably damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Plaat5 T A 19: 7,614,663 (GRCm39) probably null Het
Plb1 T A 5: 32,512,701 (GRCm39) F1353Y probably damaging Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pygo2 T A 3: 89,340,461 (GRCm39) N286K possibly damaging Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Sidt2 A G 9: 45,866,200 (GRCm39) I2T probably benign Het
Slc12a3 A T 8: 95,072,974 (GRCm39) N699I possibly damaging Het
Slc25a30 G A 14: 76,000,112 (GRCm39) Q285* probably null Het
Slc4a9 A T 18: 36,668,592 (GRCm39) H724L probably damaging Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stac3 C A 10: 127,343,616 (GRCm39) probably null Het
Stk32a A G 18: 43,446,566 (GRCm39) K339E probably benign Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tbc1d16 A G 11: 119,049,555 (GRCm39) probably null Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Trappc12 A G 12: 28,797,259 (GRCm39) V91A probably benign Het
Trim46 G T 3: 89,143,820 (GRCm39) P536Q probably damaging Het
Tshz3 T A 7: 36,469,458 (GRCm39) D482E probably benign Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Vps4a A C 8: 107,769,698 (GRCm39) I336L probably benign Het
Xylb T C 9: 119,210,653 (GRCm39) S379P probably damaging Het
Zbtb37 T C 1: 160,860,066 (GRCm39) T80A probably benign Het
Zfhx3 A G 8: 109,675,589 (GRCm39) D2213G probably damaging Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q probably damaging Het
Zfp804b A T 5: 6,821,029 (GRCm39) I642N possibly damaging Het
Zfp804b A T 5: 6,821,994 (GRCm39) N356K possibly damaging Het
Other mutations in Rttn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Rttn APN 18 88,992,464 (GRCm39) missense probably benign 0.00
IGL00788:Rttn APN 18 88,990,633 (GRCm39) missense probably benign 0.00
IGL00929:Rttn APN 18 89,047,059 (GRCm39) missense probably damaging 1.00
IGL01392:Rttn APN 18 89,013,737 (GRCm39) missense probably benign 0.03
IGL01395:Rttn APN 18 89,147,894 (GRCm39) missense possibly damaging 0.89
IGL01701:Rttn APN 18 89,082,339 (GRCm39) missense probably damaging 1.00
IGL02136:Rttn APN 18 89,064,252 (GRCm39) missense possibly damaging 0.87
IGL02151:Rttn APN 18 89,038,329 (GRCm39) missense probably damaging 1.00
IGL02165:Rttn APN 18 89,061,165 (GRCm39) missense probably benign
IGL02228:Rttn APN 18 89,060,355 (GRCm39) missense probably damaging 1.00
IGL02276:Rttn APN 18 89,066,578 (GRCm39) missense possibly damaging 0.94
IGL02612:Rttn APN 18 88,991,750 (GRCm39) missense probably damaging 1.00
IGL02645:Rttn APN 18 89,128,810 (GRCm39) missense probably benign 0.04
IGL02716:Rttn APN 18 89,066,541 (GRCm39) missense possibly damaging 0.77
IGL02820:Rttn APN 18 89,047,122 (GRCm39) missense probably damaging 1.00
IGL02961:Rttn APN 18 89,071,697 (GRCm39) missense probably damaging 1.00
IGL02973:Rttn APN 18 88,990,618 (GRCm39) missense probably damaging 1.00
IGL03027:Rttn APN 18 88,997,814 (GRCm39) missense probably damaging 1.00
IGL03082:Rttn APN 18 89,002,072 (GRCm39) missense probably damaging 1.00
IGL03121:Rttn APN 18 88,993,875 (GRCm39) missense probably damaging 1.00
IGL03135:Rttn APN 18 89,033,274 (GRCm39) missense probably damaging 1.00
IGL03328:Rttn APN 18 89,061,152 (GRCm39) missense probably benign 0.19
Fascisti UTSW 18 89,027,584 (GRCm39) splice site probably benign
marcher UTSW 18 89,056,070 (GRCm39) missense probably damaging 0.99
militaristi UTSW 18 89,029,040 (GRCm39) missense probably damaging 1.00
Thoughtless UTSW 18 89,032,735 (GRCm39) missense probably damaging 1.00
twister UTSW 18 89,064,286 (GRCm39) critical splice donor site probably null
Vermiculus UTSW 18 89,108,557 (GRCm39) missense probably benign
R0062:Rttn UTSW 18 89,029,090 (GRCm39) critical splice donor site probably null
R0062:Rttn UTSW 18 89,029,090 (GRCm39) critical splice donor site probably null
R0310:Rttn UTSW 18 89,027,584 (GRCm39) splice site probably benign
R0363:Rttn UTSW 18 89,029,079 (GRCm39) missense probably damaging 1.00
R0485:Rttn UTSW 18 89,108,543 (GRCm39) splice site probably benign
R0590:Rttn UTSW 18 88,997,759 (GRCm39) missense probably damaging 1.00
R0601:Rttn UTSW 18 89,061,090 (GRCm39) missense probably benign 0.00
R0604:Rttn UTSW 18 88,995,882 (GRCm39) missense probably damaging 1.00
R0631:Rttn UTSW 18 89,007,670 (GRCm39) missense probably benign 0.00
R0882:Rttn UTSW 18 88,991,813 (GRCm39) nonsense probably null
R0885:Rttn UTSW 18 89,001,934 (GRCm39) missense probably benign 0.03
R0900:Rttn UTSW 18 89,119,815 (GRCm39) missense probably benign 0.13
R1077:Rttn UTSW 18 89,082,373 (GRCm39) missense probably damaging 1.00
R1444:Rttn UTSW 18 89,060,991 (GRCm39) missense probably benign 0.04
R1460:Rttn UTSW 18 89,127,481 (GRCm39) splice site probably benign
R1517:Rttn UTSW 18 89,131,474 (GRCm39) missense probably benign 0.01
R1630:Rttn UTSW 18 89,061,078 (GRCm39) missense probably benign 0.02
R1632:Rttn UTSW 18 89,027,460 (GRCm39) missense probably benign 0.18
R1722:Rttn UTSW 18 88,991,655 (GRCm39) missense probably benign 0.34
R1755:Rttn UTSW 18 89,027,441 (GRCm39) missense probably damaging 1.00
R1881:Rttn UTSW 18 89,033,336 (GRCm39) missense probably damaging 0.96
R1971:Rttn UTSW 18 89,108,557 (GRCm39) missense probably benign
R2035:Rttn UTSW 18 89,038,340 (GRCm39) missense probably damaging 1.00
R2109:Rttn UTSW 18 89,004,197 (GRCm39) missense possibly damaging 0.93
R2191:Rttn UTSW 18 89,113,772 (GRCm39) critical splice donor site probably null
R2201:Rttn UTSW 18 89,029,067 (GRCm39) missense possibly damaging 0.88
R2266:Rttn UTSW 18 89,082,295 (GRCm39) missense probably benign 0.05
R3014:Rttn UTSW 18 89,032,744 (GRCm39) missense probably damaging 1.00
R3052:Rttn UTSW 18 89,033,370 (GRCm39) splice site probably benign
R3427:Rttn UTSW 18 89,113,775 (GRCm39) splice site probably null
R3431:Rttn UTSW 18 89,113,695 (GRCm39) missense probably benign 0.04
R3786:Rttn UTSW 18 89,056,018 (GRCm39) missense probably benign 0.00
R3803:Rttn UTSW 18 88,995,831 (GRCm39) missense probably damaging 0.96
R3980:Rttn UTSW 18 89,035,399 (GRCm39) missense probably benign 0.12
R4035:Rttn UTSW 18 89,013,777 (GRCm39) missense probably benign 0.03
R4170:Rttn UTSW 18 88,993,847 (GRCm39) missense probably damaging 1.00
R4223:Rttn UTSW 18 89,113,708 (GRCm39) missense probably damaging 1.00
R4273:Rttn UTSW 18 89,110,020 (GRCm39) missense probably benign
R4517:Rttn UTSW 18 89,047,097 (GRCm39) missense probably damaging 0.99
R4674:Rttn UTSW 18 89,029,135 (GRCm39) splice site probably null
R4837:Rttn UTSW 18 89,108,539 (GRCm39) splice site probably null
R4869:Rttn UTSW 18 89,061,138 (GRCm39) nonsense probably null
R4881:Rttn UTSW 18 89,119,809 (GRCm39) missense probably damaging 1.00
R4959:Rttn UTSW 18 89,060,292 (GRCm39) missense probably damaging 1.00
R4973:Rttn UTSW 18 89,060,292 (GRCm39) missense probably damaging 1.00
R4975:Rttn UTSW 18 89,082,209 (GRCm39) splice site probably null
R5166:Rttn UTSW 18 89,031,218 (GRCm39) missense possibly damaging 0.48
R5243:Rttn UTSW 18 89,126,187 (GRCm39) missense possibly damaging 0.74
R5594:Rttn UTSW 18 89,108,560 (GRCm39) missense possibly damaging 0.95
R5654:Rttn UTSW 18 89,066,556 (GRCm39) missense probably benign
R5794:Rttn UTSW 18 89,013,693 (GRCm39) missense probably benign 0.18
R5799:Rttn UTSW 18 89,056,070 (GRCm39) missense probably damaging 0.99
R5955:Rttn UTSW 18 89,139,133 (GRCm39) missense probably damaging 0.99
R5963:Rttn UTSW 18 89,091,819 (GRCm39) missense probably benign 0.01
R5989:Rttn UTSW 18 88,991,750 (GRCm39) missense probably damaging 1.00
R6004:Rttn UTSW 18 89,039,816 (GRCm39) missense probably damaging 0.96
R6132:Rttn UTSW 18 89,133,770 (GRCm39) critical splice donor site probably null
R6430:Rttn UTSW 18 89,039,809 (GRCm39) missense probably null 0.18
R6436:Rttn UTSW 18 89,128,853 (GRCm39) missense probably damaging 1.00
R6681:Rttn UTSW 18 89,032,735 (GRCm39) missense probably damaging 1.00
R6994:Rttn UTSW 18 89,047,023 (GRCm39) missense probably damaging 1.00
R7049:Rttn UTSW 18 89,082,340 (GRCm39) missense probably damaging 1.00
R7078:Rttn UTSW 18 89,027,546 (GRCm39) missense probably benign 0.03
R7083:Rttn UTSW 18 89,108,722 (GRCm39) missense probably damaging 1.00
R7250:Rttn UTSW 18 89,007,647 (GRCm39) missense probably benign 0.03
R7402:Rttn UTSW 18 89,004,035 (GRCm39) missense possibly damaging 0.92
R7565:Rttn UTSW 18 89,078,603 (GRCm39) missense probably damaging 1.00
R7588:Rttn UTSW 18 89,082,353 (GRCm39) missense probably damaging 0.97
R8029:Rttn UTSW 18 89,108,598 (GRCm39) missense not run
R8085:Rttn UTSW 18 89,071,672 (GRCm39) nonsense probably null
R8113:Rttn UTSW 18 89,029,040 (GRCm39) missense probably damaging 1.00
R8355:Rttn UTSW 18 89,047,016 (GRCm39) missense probably benign 0.05
R8531:Rttn UTSW 18 89,131,467 (GRCm39) missense probably benign 0.00
R8992:Rttn UTSW 18 88,995,832 (GRCm39) missense probably benign 0.24
R9008:Rttn UTSW 18 89,027,556 (GRCm39) missense probably damaging 1.00
R9139:Rttn UTSW 18 89,038,261 (GRCm39) missense probably benign 0.30
R9210:Rttn UTSW 18 89,064,286 (GRCm39) critical splice donor site probably null
R9212:Rttn UTSW 18 89,064,286 (GRCm39) critical splice donor site probably null
R9286:Rttn UTSW 18 88,995,849 (GRCm39) missense probably benign 0.06
R9368:Rttn UTSW 18 89,078,576 (GRCm39) missense probably damaging 1.00
R9632:Rttn UTSW 18 89,035,334 (GRCm39) missense possibly damaging 0.82
R9710:Rttn UTSW 18 89,035,334 (GRCm39) missense possibly damaging 0.82
X0017:Rttn UTSW 18 89,131,526 (GRCm39) missense probably benign 0.01
X0022:Rttn UTSW 18 88,991,791 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTGCAGCAGGTAACAGCAAGTC -3'
(R):5'- GCAACAGAGAGTACCTCAAACTGTGAC -3'

Sequencing Primer
(F):5'- TTCCAGTGGAAGTAGTAGTCACAC -3'
(R):5'- GTACCTCAAACTGTGACTGACAAG -3'
Posted On 2013-04-16