Incidental Mutation 'R0310:Rttn'
ID 25279
Institutional Source Beutler Lab
Gene Symbol Rttn
Ensembl Gene ENSMUSG00000023066
Gene Name rotatin
Synonyms C530033I08Rik, 4921538A15Rik
MMRRC Submission 038520-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0310 (G1)
Quality Score 168
Status Validated
Chromosome 18
Chromosomal Location 88989914-89149140 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 89027584 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 benign
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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 93.3%
  • 20x: 82.5%
Validation Efficiency 99% (113/114)
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A C 9: 53,336,971 (GRCm39) T92P probably damaging Het
Abca13 T C 11: 9,243,810 (GRCm39) V1891A probably benign Het
Abcc1 T A 16: 14,228,791 (GRCm39) I346N probably damaging Het
Afdn G T 17: 14,105,770 (GRCm39) probably null Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akap13 A G 7: 75,264,678 (GRCm39) D507G probably damaging Het
Akap8 A T 17: 32,535,234 (GRCm39) M260K possibly damaging Het
Akr1b8 T C 6: 34,342,194 (GRCm39) V265A probably benign Het
Alpk3 C G 7: 80,728,358 (GRCm39) P496R possibly damaging Het
Ankrd13b A G 11: 77,363,571 (GRCm39) V249A possibly damaging Het
Arid4a T C 12: 71,122,604 (GRCm39) V995A probably benign Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atad2 G A 15: 57,977,653 (GRCm39) A499V probably damaging Het
Barhl2 G T 5: 106,605,253 (GRCm39) A152E possibly damaging Het
Bbs12 T A 3: 37,375,194 (GRCm39) D547E probably damaging Het
Btaf1 A G 19: 36,981,934 (GRCm39) M1655V probably damaging Het
Ccdc50 T A 16: 27,225,408 (GRCm39) H40Q probably damaging Het
Ccr9 A T 9: 123,603,617 (GRCm39) probably benign Het
Cdh15 A G 8: 123,592,175 (GRCm39) D654G probably damaging Het
Cebpz T C 17: 79,233,553 (GRCm39) D758G probably damaging Het
Cgn C T 3: 94,672,960 (GRCm39) R906K possibly damaging Het
Chil3 T A 3: 106,067,839 (GRCm39) M109L possibly damaging Het
Cntnap4 A T 8: 113,569,148 (GRCm39) probably null Het
Cyp4f18 C T 8: 72,754,856 (GRCm39) probably benign Het
Daam2 A G 17: 49,770,952 (GRCm39) probably null Het
Ddost T A 4: 138,037,922 (GRCm39) H220Q probably benign Het
Dennd2a C T 6: 39,441,135 (GRCm39) probably benign Het
Depdc1b G A 13: 108,510,375 (GRCm39) V296I possibly damaging Het
Dnaaf4 A T 9: 72,879,618 (GRCm39) D386V probably damaging Het
Dnah5 A T 15: 28,299,256 (GRCm39) R1539S probably benign Het
Dusp22 T C 13: 30,889,641 (GRCm39) I74T probably damaging Het
Epc1 A G 18: 6,440,202 (GRCm39) probably benign Het
Epha7 A G 4: 28,961,301 (GRCm39) I845V probably benign Het
Fanci C T 7: 79,057,165 (GRCm39) probably benign Het
Fbn1 T A 2: 125,205,564 (GRCm39) E1104V probably damaging Het
Fbxo8 T A 8: 57,043,132 (GRCm39) F205L probably damaging Het
Fcgbpl1 G T 7: 27,841,699 (GRCm39) V545L probably benign Het
Fetub T C 16: 22,748,506 (GRCm39) probably benign Het
Frs3 T C 17: 48,014,747 (GRCm39) V480A probably benign Het
Gne C A 4: 44,060,157 (GRCm39) E79* probably null Het
Hrc T A 7: 44,985,921 (GRCm39) H357Q probably benign Het
Idh1 T C 1: 65,201,079 (GRCm39) M291V probably damaging Het
Il22b T A 10: 118,129,090 (GRCm39) H133L probably benign Het
Ino80b T C 6: 83,101,072 (GRCm39) E165G probably damaging Het
Inppl1 A T 7: 101,477,706 (GRCm39) probably benign Het
Ints15 G T 5: 143,293,643 (GRCm39) T278K probably benign Het
Ip6k2 T C 9: 108,676,432 (GRCm39) probably benign Het
Itga11 A T 9: 62,667,628 (GRCm39) I654F probably damaging Het
Jag2 G T 12: 112,876,997 (GRCm39) probably benign Het
Katna1 G T 10: 7,619,513 (GRCm39) probably benign Het
Kcnh4 G T 11: 100,636,995 (GRCm39) S707Y probably benign Het
Kcnn2 T G 18: 45,693,585 (GRCm39) L387R probably damaging Het
Khnyn A G 14: 56,125,425 (GRCm39) T503A probably damaging Het
Lama5 G T 2: 179,823,359 (GRCm39) probably benign Het
Lmbr1l A T 15: 98,806,654 (GRCm39) probably benign Het
Mast4 A T 13: 102,890,669 (GRCm39) S870T possibly damaging Het
Med1 A G 11: 98,058,400 (GRCm39) Y266H probably benign Het
Med13 A T 11: 86,236,829 (GRCm39) N109K probably benign Het
Mgam T C 6: 40,737,969 (GRCm39) probably benign Het
Mmp8 A G 9: 7,561,455 (GRCm39) Q153R probably benign Het
Mpeg1 C A 19: 12,439,055 (GRCm39) T171N probably benign Het
Mtus2 T C 5: 148,043,829 (GRCm39) S806P probably benign Het
Naip2 T A 13: 100,285,350 (GRCm39) E1226V probably damaging Het
Naip6 A G 13: 100,444,721 (GRCm39) F246L possibly damaging Het
Nav3 T C 10: 109,602,989 (GRCm39) I1187V possibly damaging Het
Nbeal1 T C 1: 60,344,529 (GRCm39) probably benign Het
Nbeal2 C A 9: 110,467,231 (GRCm39) V653L probably damaging Het
Ndufa9 G T 6: 126,804,495 (GRCm39) probably benign Het
Nlrp5 G T 7: 23,129,582 (GRCm39) C883F probably damaging Het
Nr0b2 C A 4: 133,283,303 (GRCm39) probably null Het
Or1m1 T A 9: 18,666,629 (GRCm39) M101L possibly damaging Het
Or6c209 T A 10: 129,483,600 (GRCm39) V201E probably damaging Het
Or6c69c G A 10: 129,910,692 (GRCm39) V138I probably benign Het
Or8b101 T A 9: 38,020,782 (GRCm39) S267T possibly damaging Het
Pkhd1 A T 1: 20,620,046 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,386,134 (GRCm39) probably benign Het
Ppm1l A G 3: 69,456,794 (GRCm39) K237R probably benign Het
Ppp1r18 T C 17: 36,184,603 (GRCm39) probably benign Het
Ptpn3 A T 4: 57,204,958 (GRCm39) D734E probably benign Het
Pxdn T C 12: 30,065,528 (GRCm39) C1283R probably damaging Het
Rbm12 A G 2: 155,937,644 (GRCm39) probably benign Het
Sgsm1 G T 5: 113,411,571 (GRCm39) H431Q probably benign Het
Siah3 A G 14: 75,763,367 (GRCm39) N206S possibly damaging Het
Slc22a15 G T 3: 101,767,827 (GRCm39) D521E probably benign Het
Sprr2k A T 3: 92,340,770 (GRCm39) probably benign Het
Stab2 G A 10: 86,803,477 (GRCm39) probably benign Het
Sval3 T A 6: 41,945,120 (GRCm39) L16Q probably damaging Het
Sycp2 C G 2: 178,023,648 (GRCm39) S456T probably benign Het
Tk1 T C 11: 117,707,921 (GRCm39) probably benign Het
Tlk2 C A 11: 105,145,799 (GRCm39) A335E probably benign Het
Tmtc1 T C 6: 148,151,079 (GRCm39) K659E probably benign Het
Tnk2 C T 16: 32,499,408 (GRCm39) P907L probably benign Het
Trim14 C A 4: 46,522,043 (GRCm39) K211N probably damaging Het
Trim15 A C 17: 37,177,878 (GRCm39) L39R probably damaging Het
Tspan15 T A 10: 62,023,872 (GRCm39) T269S probably benign Het
Ttc7 T A 17: 87,669,292 (GRCm39) D646E probably benign Het
Ttll6 A T 11: 96,038,382 (GRCm39) Q410L probably benign Het
Unc79 A G 12: 103,027,666 (GRCm39) Q419R probably damaging Het
Vcam1 A T 3: 115,908,065 (GRCm39) Y666N possibly damaging Het
Vmn1r10 A T 6: 57,090,486 (GRCm39) Y26F probably damaging Het
Vmn1r80 A G 7: 11,927,775 (GRCm39) N295S probably benign Het
Vmn2r114 A T 17: 23,509,917 (GRCm39) H854Q probably benign Het
Vmn2r2 A T 3: 64,042,039 (GRCm39) D225E probably damaging Het
Vmn2r4 A T 3: 64,296,855 (GRCm39) Y643* probably null Het
Vmn2r52 T A 7: 9,893,393 (GRCm39) Y582F probably damaging Het
Vmn2r60 G T 7: 41,844,564 (GRCm39) L642F possibly damaging Het
Zbtb20 T C 16: 43,430,109 (GRCm39) S207P probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Zkscan7 G T 9: 122,717,958 (GRCm39) E118* probably null 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
R0330:Rttn UTSW 18 89,004,204 (GRCm39) splice site probably null
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'- CCAGAGTCCATGTCAGCAGCATTATT -3'
(R):5'- TCAGAACCCTAATGTCTCTGTGTTACCT -3'

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