Incidental Mutation 'R4973:Rttn'
ID 382443
Institutional Source Beutler Lab
Gene Symbol Rttn
Ensembl Gene ENSMUSG00000023066
Gene Name rotatin
Synonyms C530033I08Rik, 4921538A15Rik
MMRRC Submission 042568-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4973 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 88989914-89149140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89060292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 998 (H998L)
Ref Sequence ENSEMBL: ENSMUSP00000023828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023828]
AlphaFold Q8R4Y8
Predicted Effect probably damaging
Transcript: ENSMUST00000023828
AA Change: H998L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: H998L

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 0.3826 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 97% (115/118)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,282,808 (GRCm39) I221K possibly damaging Het
Abhd16a T A 17: 35,321,318 (GRCm39) S498T probably benign Het
Adamts18 G A 8: 114,463,357 (GRCm39) R830* probably null Het
Ankrd27 A G 7: 35,332,417 (GRCm39) D848G probably benign Het
Art3 A G 5: 92,551,478 (GRCm39) Y279C probably damaging Het
Atp2c2 A G 8: 120,481,002 (GRCm39) T797A probably benign Het
Ccdc121rt1 A T 1: 181,338,829 (GRCm39) V41E possibly damaging Het
Ccdc122 A T 14: 77,305,381 (GRCm39) I12F possibly damaging Het
Ccdc154 T C 17: 25,389,888 (GRCm39) L508P probably damaging Het
Cdk5r2 A G 1: 74,894,831 (GRCm39) D192G probably damaging Het
Cgn C T 3: 94,685,564 (GRCm39) A320T probably benign Het
Cklf A G 8: 104,988,184 (GRCm39) K106E probably benign Het
Clec12a C A 6: 129,330,628 (GRCm39) T70K probably benign Het
Clock A G 5: 76,402,258 (GRCm39) V134A possibly damaging Het
CN725425 G A 15: 91,129,904 (GRCm39) A256T possibly damaging Het
Csf1r A T 18: 61,262,119 (GRCm39) I792F probably damaging Het
Csn1s1 T G 5: 87,821,120 (GRCm39) S33A probably benign Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
D5Ertd579e A G 5: 36,830,249 (GRCm39) V25A probably benign Het
D630045J12Rik C T 6: 38,125,302 (GRCm39) V1571M possibly damaging Het
Ddx5 C A 11: 106,675,833 (GRCm39) V286L possibly damaging Het
Deup1 G A 9: 15,523,310 (GRCm39) Q58* probably null Het
Dnhd1 T G 7: 105,362,840 (GRCm39) L3801V probably benign Het
Dph2 T A 4: 117,748,527 (GRCm39) D82V probably damaging Het
Ercc6 A G 14: 32,296,859 (GRCm39) D1283G probably damaging Het
Evi5l G T 8: 4,255,406 (GRCm39) V477L probably benign Het
Fam91a1 A G 15: 58,303,059 (GRCm39) T323A probably benign Het
Fanca G A 8: 124,035,261 (GRCm39) T228M probably damaging Het
Fat4 T G 3: 39,037,195 (GRCm39) S3616A probably benign Het
Fbxo16 G T 14: 65,558,746 (GRCm39) A302S probably benign Het
Fkbp5 T C 17: 28,647,343 (GRCm39) E164G probably damaging Het
Fpr-rs3 T C 17: 20,844,211 (GRCm39) Y310C possibly damaging Het
Fsip2 T C 2: 82,815,169 (GRCm39) I3634T probably benign Het
Gm6327 T C 16: 12,578,845 (GRCm39) noncoding transcript Het
Gnl3 A T 14: 30,735,462 (GRCm39) N411K possibly damaging Het
Golga1 A T 2: 38,929,118 (GRCm39) D308E probably damaging Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gsap A T 5: 21,459,037 (GRCm39) T501S probably benign Het
Helq A G 5: 100,940,737 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,234,108 (GRCm39) H291R probably benign Het
Htt A T 5: 34,970,367 (GRCm39) D505V probably damaging Het
Ildr1 C T 16: 36,528,660 (GRCm39) T35I probably benign Het
Iqgap2 A G 13: 95,794,305 (GRCm39) probably null Het
Kansl1 C T 11: 104,315,147 (GRCm39) R297H probably damaging Het
Kat2b-ps T C 5: 93,539,644 (GRCm39) noncoding transcript Het
Kbtbd2 A G 6: 56,758,943 (GRCm39) F60S probably benign Het
Kcnt2 A T 1: 140,537,388 (GRCm39) S1116C probably damaging Het
Krt9 C T 11: 100,079,538 (GRCm39) G618E unknown Het
Lsm5 A T 6: 56,680,309 (GRCm39) D44E probably damaging Het
Mdn1 A G 4: 32,734,418 (GRCm39) D3275G probably benign Het
Mindy2 A T 9: 70,512,453 (GRCm39) V599E possibly damaging Het
Nelfa A G 5: 34,059,162 (GRCm39) V231A probably benign Het
Nepro T C 16: 44,555,156 (GRCm39) Y411H probably benign Het
Nes T A 3: 87,882,983 (GRCm39) L414Q probably damaging Het
Neurl2 T A 2: 164,675,122 (GRCm39) probably null Het
Nkx1-1 G T 5: 33,588,410 (GRCm39) Q293K possibly damaging Het
Nphp3 C T 9: 103,909,198 (GRCm39) H803Y probably benign Het
Obscn A G 11: 59,023,292 (GRCm39) V695A probably damaging Het
Or10v5 A G 19: 11,806,300 (GRCm39) L30P probably benign Het
Or12d15 G A 17: 37,693,910 (GRCm39) A151T probably damaging Het
Or2f1 T C 6: 42,721,621 (GRCm39) S217P probably damaging Het
Or2t48 T C 11: 58,419,903 (GRCm39) E303G probably benign Het
Or4c106 T C 2: 88,682,516 (GRCm39) V74A possibly damaging Het
Or4f17-ps1 T A 2: 111,357,969 (GRCm39) F103L probably damaging Het
Or4p7 T A 2: 88,221,674 (GRCm39) L28I probably benign Het
Or7g35 A G 9: 19,496,504 (GRCm39) T224A probably benign Het
Or8d2b A G 9: 38,789,400 (GRCm39) *309W probably null Het
Orai3 T A 7: 127,373,348 (GRCm39) L283Q probably damaging Het
Pcdhb13 A T 18: 37,576,237 (GRCm39) D205V probably benign Het
Pdlim5 G A 3: 142,017,740 (GRCm39) probably benign Het
Pdzd2 A G 15: 12,375,734 (GRCm39) V1467A probably damaging Het
Pgm3 A G 9: 86,444,732 (GRCm39) S268P probably benign Het
Piezo2 A T 18: 63,207,751 (GRCm39) I1420N probably damaging Het
Pigp C A 16: 94,160,006 (GRCm39) G134V probably benign Het
Pik3c2g T C 6: 139,789,657 (GRCm39) Y385H possibly damaging Het
Pnliprp2 G A 19: 58,754,750 (GRCm39) E265K probably benign Het
Psmd13 T A 7: 140,466,766 (GRCm39) Y117* probably null Het
Ptprq C T 10: 107,522,416 (GRCm39) V546I probably damaging Het
Pum1 T G 4: 130,396,448 (GRCm39) S68A probably benign Het
Rnf167 T A 11: 70,540,701 (GRCm39) probably benign Het
Rnf213 T C 11: 119,318,983 (GRCm39) V1148A possibly damaging Het
Rnf216 T C 5: 143,076,071 (GRCm39) E271G probably benign Het
Ros1 A T 10: 52,031,087 (GRCm39) I506N probably damaging Het
Rpl37 G A 15: 5,147,128 (GRCm39) R56Q possibly damaging Het
Rpl41 A C 10: 128,384,576 (GRCm39) probably benign Het
Sacs G T 14: 61,450,571 (GRCm39) A4206S probably damaging Het
Slc22a14 CTTTCCTGAA C 9: 119,003,101 (GRCm39) probably benign Het
Slc36a3 T C 11: 55,037,630 (GRCm39) probably benign Het
Slc39a3 A T 10: 80,866,796 (GRCm39) W317R probably damaging Het
Snd1 C A 6: 28,884,250 (GRCm39) Y766* probably null Het
Snrpd1 T C 18: 10,626,835 (GRCm39) V34A probably benign Het
Spire2 T A 8: 124,083,583 (GRCm39) I189N probably damaging Het
Stard6 A C 18: 70,631,631 (GRCm39) D74A possibly damaging Het
Sufu C T 19: 46,463,991 (GRCm39) T401I possibly damaging Het
Taar7b T A 10: 23,876,243 (GRCm39) F136Y probably benign Het
Taf6 G A 5: 138,181,465 (GRCm39) Q156* probably null Het
Tcp11l2 A G 10: 84,427,027 (GRCm39) I164V probably damaging Het
Tead4 T C 6: 128,247,950 (GRCm39) D29G probably damaging Het
Tns4 G T 11: 98,966,039 (GRCm39) P448Q probably damaging Het
Trappc9 G T 15: 72,808,905 (GRCm39) N540K probably damaging Het
Trbv28 C T 6: 41,248,788 (GRCm39) S106F probably damaging Het
Usp16 T A 16: 87,277,802 (GRCm39) M684K probably damaging Het
Usp45 A T 4: 21,815,372 (GRCm39) T362S probably damaging Het
Vcan A T 13: 89,836,961 (GRCm39) M2861K probably benign Het
Vps8 T C 16: 21,278,536 (GRCm39) S267P probably damaging Het
Wdfy3 C T 5: 102,090,985 (GRCm39) D532N probably benign Het
Zbtb34 T A 2: 33,301,626 (GRCm39) Q305L probably benign Het
Zfp267 C T 3: 36,218,285 (GRCm39) R102C possibly damaging Het
Zfp352 T A 4: 90,112,376 (GRCm39) V172E probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp804b A T 5: 6,821,198 (GRCm39) S622T probably damaging Het
Zswim4 G T 8: 84,938,852 (GRCm39) A1010D 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
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
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'- TGGTTTCAGGGAACACTGGC -3'
(R):5'- CTTGGGTACACATTGAGCTTTACTC -3'

Sequencing Primer
(F):5'- TCAGGGAACACTGGCTATCTC -3'
(R):5'- ACACATTGAGCTTTACTCTTTCCAAG -3'
Posted On 2016-04-27