Incidental Mutation 'R1460:Rttn'
ID 162106
Institutional Source Beutler Lab
Gene Symbol Rttn
Ensembl Gene ENSMUSG00000023066
Gene Name rotatin
Synonyms C530033I08Rik, 4921538A15Rik
MMRRC Submission 039515-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1460 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 88989914-89149140 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 89127481 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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.1%
Validation Efficiency 94% (93/99)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A T 4: 109,388,407 (GRCm39) probably null Het
Abcb11 A G 2: 69,087,718 (GRCm39) probably benign Het
Abi3bp T C 16: 56,382,780 (GRCm39) V130A probably damaging Het
Adamts4 A G 1: 171,084,009 (GRCm39) probably benign Het
Adgrd1 A G 5: 129,199,627 (GRCm39) T155A possibly damaging Het
Ano3 A T 2: 110,513,103 (GRCm39) S631T probably damaging Het
Ass1 G A 2: 31,404,753 (GRCm39) V345I probably benign Het
Atg7 G A 6: 114,680,325 (GRCm39) A384T probably damaging Het
Atp6v0a1 T A 11: 100,924,824 (GRCm39) I303N probably damaging Het
B3gntl1 T G 11: 121,530,624 (GRCm39) Y149S probably damaging Het
Btnl2 A G 17: 34,585,424 (GRCm39) D475G probably benign Het
Cdcp1 A T 9: 123,009,092 (GRCm39) S529T possibly damaging Het
Cenpt A G 8: 106,575,520 (GRCm39) L194P probably damaging Het
Cfhr4 T A 1: 139,625,934 (GRCm39) I788F probably damaging Het
Chmp4b A G 2: 154,534,515 (GRCm39) D177G possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cish G T 9: 107,177,596 (GRCm39) E91* probably null Het
Col22a1 T C 15: 71,693,780 (GRCm39) D740G unknown Het
Cplane2 T C 4: 140,945,523 (GRCm39) F125L probably damaging Het
Crocc G A 4: 140,756,551 (GRCm39) Q1025* probably null Het
Ctrc C A 4: 141,566,120 (GRCm39) probably benign Het
Cyb5r2 T A 7: 107,356,450 (GRCm39) D7V probably benign Het
Dhx29 T C 13: 113,101,744 (GRCm39) probably benign Het
Dhx9 A C 1: 153,341,426 (GRCm39) D607E probably benign Het
Dnajb7 C T 15: 81,291,888 (GRCm39) G150R probably benign Het
Dnase1l3 T A 14: 7,974,050 (GRCm38) T214S probably benign Het
Dpm1 A T 2: 168,052,549 (GRCm39) I229N probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Entpd1 T C 19: 40,714,632 (GRCm39) V247A probably damaging Het
Ephb3 C A 16: 21,037,672 (GRCm39) H277Q probably benign Het
Etl4 A T 2: 20,793,288 (GRCm39) N671I probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fancd2os G A 6: 113,574,973 (GRCm39) T11I probably damaging Het
Fcrlb G T 1: 170,739,853 (GRCm39) probably benign Het
Fhip1a T C 3: 85,638,183 (GRCm39) I39V probably damaging Het
Gm9991 T C 1: 90,606,780 (GRCm39) noncoding transcript Het
Gstk1 C T 6: 42,223,529 (GRCm39) R40W probably damaging Het
Gstt1 C T 10: 75,620,004 (GRCm39) V190M probably damaging Het
Hectd2 G A 19: 36,592,908 (GRCm39) W691* probably null Het
Hecw2 T C 1: 53,852,404 (GRCm39) T1572A probably damaging Het
Hoxa5 T C 6: 52,180,928 (GRCm39) T135A probably benign Het
Igfl3 T A 7: 17,913,880 (GRCm39) C77S possibly damaging Het
Itgb4 A G 11: 115,874,990 (GRCm39) D449G probably damaging Het
Larp1b T C 3: 40,916,653 (GRCm39) V11A probably benign Het
Lhx9 A G 1: 138,766,447 (GRCm39) probably benign Het
Lig3 G T 11: 82,686,624 (GRCm39) probably benign Het
Lipo4 A C 19: 33,476,718 (GRCm39) F343L probably benign Het
Lyn T A 4: 3,789,908 (GRCm39) Y480* probably null Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mill1 C A 7: 17,996,595 (GRCm39) A137D probably damaging Het
Mmut T C 17: 41,248,266 (GRCm39) Y98H probably damaging Het
Morc2a A T 11: 3,633,794 (GRCm39) R635S probably benign Het
Mpped2 A G 2: 106,575,237 (GRCm39) probably benign Het
Mug2 T C 6: 122,017,492 (GRCm39) probably benign Het
Mynn C A 3: 30,657,853 (GRCm39) S57Y probably damaging Het
Myo3b G A 2: 70,062,798 (GRCm39) E333K probably benign Het
Myt1 A T 2: 181,444,725 (GRCm39) I514F probably damaging Het
Nlrp4f A G 13: 65,338,082 (GRCm39) C708R probably benign Het
Nod2 A G 8: 89,390,440 (GRCm39) E249G probably damaging Het
Npy2r T C 3: 82,448,251 (GRCm39) I175V probably benign Het
Obscn A T 11: 58,946,792 (GRCm39) V4114D probably damaging Het
Or1l8 A T 2: 36,817,820 (GRCm39) M102K probably damaging Het
Or2y12 T A 11: 49,426,504 (GRCm39) M164K possibly damaging Het
Or4a76 A G 2: 89,460,282 (GRCm39) probably null Het
Or52e7 T A 7: 104,684,915 (GRCm39) I170N possibly damaging Het
Or8g33 A G 9: 39,337,503 (GRCm39) M288T probably benign Het
Pbxip1 T A 3: 89,352,921 (GRCm39) I196N probably damaging Het
Piezo1 G A 8: 123,228,890 (GRCm39) T209M possibly damaging Het
Polr1a T C 6: 71,918,368 (GRCm39) M642T probably damaging Het
Prdm4 T C 10: 85,743,686 (GRCm39) M190V probably benign Het
Psmd7 G A 8: 108,307,691 (GRCm39) S264L possibly damaging Het
Qrich1 T G 9: 108,410,846 (GRCm39) probably benign Het
Rapgef4 G T 2: 71,861,520 (GRCm39) probably null Het
Rfx5 T C 3: 94,863,636 (GRCm39) I95T probably damaging Het
Rgr G A 14: 36,767,683 (GRCm39) R113C probably damaging Het
Rnf20 T C 4: 49,645,873 (GRCm39) probably benign Het
Rps3a1 G A 3: 86,045,369 (GRCm39) A241V probably benign Het
Scn2a A G 2: 65,532,187 (GRCm39) T600A probably damaging Het
Scyl2 T C 10: 89,493,751 (GRCm39) D339G possibly damaging Het
Sipa1 T A 19: 5,701,475 (GRCm39) H1029L probably benign Het
Slc49a4 T C 16: 35,539,736 (GRCm39) T362A probably benign Het
Snrnp48 A G 13: 38,395,081 (GRCm39) T124A probably benign Het
Sptbn1 A T 11: 30,088,637 (GRCm39) M875K possibly damaging Het
Supt6 A G 11: 78,113,024 (GRCm39) V973A possibly damaging Het
Supv3l1 T C 10: 62,279,162 (GRCm39) probably benign Het
Svep1 G T 4: 58,068,740 (GRCm39) N3015K possibly damaging Het
Tgfb3 A G 12: 86,105,841 (GRCm39) probably benign Het
Trerf1 A G 17: 47,628,771 (GRCm39) noncoding transcript Het
Trim24 T A 6: 37,941,761 (GRCm39) F904I probably damaging Het
Trim30d T A 7: 104,121,311 (GRCm39) Y328F probably benign Het
Ttn T C 2: 76,698,717 (GRCm39) E6G probably damaging Het
Ube2m T C 7: 12,769,762 (GRCm39) probably benign Het
Vmn2r-ps158 A T 7: 42,672,639 (GRCm39) R91S probably benign Het
Wdr90 A T 17: 26,079,422 (GRCm39) S237R possibly damaging Het
Zfp735 A T 11: 73,603,159 (GRCm39) H701L possibly damaging Het
Zp1 T C 19: 10,896,242 (GRCm39) D161G probably benign 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
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
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'- AGGAACAGAATGGCCCCTTGACAG -3'
(R):5'- TGGTCACAATTATGGCAAGGCCAC -3'

Sequencing Primer
(F):5'- GATTTGCTGAGACCTGGGAA -3'
(R):5'- GGGGGAAAATCTTGCCTCATC -3'
Posted On 2014-03-14