Incidental Mutation 'R0485:Rttn'
ID 42252
Institutional Source Beutler Lab
Gene Symbol Rttn
Ensembl Gene ENSMUSG00000023066
Gene Name rotatin
Synonyms C530033I08Rik, 4921538A15Rik
MMRRC Submission 038684-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0485 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 88989914-89149140 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 89108543 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: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency 100% (95/95)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik A G 16: 3,725,511 (GRCm39) V5A probably damaging Het
Abi3bp A G 16: 56,424,375 (GRCm39) probably null Het
Acot11 G A 4: 106,619,224 (GRCm39) R184C probably damaging Het
Adgre5 A T 8: 84,458,627 (GRCm39) I133N probably damaging Het
Afap1 A T 5: 36,108,347 (GRCm39) Q231L probably damaging Het
Alg12 T C 15: 88,695,630 (GRCm39) T289A probably benign Het
Ank3 T A 10: 69,718,374 (GRCm39) S542T possibly damaging Het
Ankmy2 G A 12: 36,232,389 (GRCm39) R138Q possibly damaging Het
Ascc2 C T 11: 4,622,302 (GRCm39) A456V probably benign Het
Atg4c G A 4: 99,112,719 (GRCm39) V289I probably benign Het
Bbs7 A T 3: 36,657,022 (GRCm39) Y269N probably damaging Het
Bcas3 T A 11: 85,386,676 (GRCm39) D370E probably damaging Het
Bicc1 T G 10: 70,761,145 (GRCm39) E955A probably damaging Het
Bok T C 1: 93,616,999 (GRCm39) F115S probably damaging Het
Caap1 A T 4: 94,438,758 (GRCm39) probably null Het
Cacna2d3 T A 14: 29,256,476 (GRCm39) M95L possibly damaging Het
Calcrl T A 2: 84,200,435 (GRCm39) D115V probably benign Het
Car7 A T 8: 105,270,170 (GRCm39) M57L probably benign Het
Casq1 G T 1: 172,037,957 (GRCm39) probably benign Het
Cep290 A T 10: 100,385,206 (GRCm39) D1894V possibly damaging Het
Clec4a2 T A 6: 123,100,588 (GRCm39) N14K probably damaging Het
Col16a1 G T 4: 129,984,290 (GRCm39) probably benign Het
Col5a1 T C 2: 27,880,109 (GRCm39) probably benign Het
Col5a2 A T 1: 45,417,642 (GRCm39) I1311N probably damaging Het
Col5a3 T C 9: 20,694,004 (GRCm39) T1050A probably damaging Het
Colgalt2 A T 1: 152,360,622 (GRCm39) I220F probably damaging Het
Cpb1 A T 3: 20,329,792 (GRCm39) V8E unknown Het
Dchs1 C T 7: 105,421,934 (GRCm39) R162H probably benign Het
Dhx37 A G 5: 125,499,295 (GRCm39) Y638H probably benign Het
Dhx40 T G 11: 86,662,088 (GRCm39) probably benign Het
Ehd2 T A 7: 15,686,001 (GRCm39) Q357L probably benign Het
Ewsr1 T C 11: 5,020,737 (GRCm39) probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gid8 T A 2: 180,355,004 (GRCm39) Y3* probably null Het
Gm10212 A C 19: 11,548,174 (GRCm39) noncoding transcript Het
Grin3b T A 10: 79,809,890 (GRCm39) N465K possibly damaging Het
H1f3 A T 13: 23,739,924 (GRCm39) K221* probably null Het
Htr4 A T 18: 62,561,225 (GRCm39) N162I probably damaging Het
Irag2 T C 6: 145,110,938 (GRCm39) C248R probably damaging Het
Itga3 T C 11: 94,952,796 (GRCm39) D325G probably benign Het
Itpr3 T G 17: 27,330,903 (GRCm39) V1737G probably damaging Het
Kcnab2 C T 4: 152,479,439 (GRCm39) V251I probably benign Het
Kcnn2 A T 18: 45,693,215 (GRCm39) I264L probably benign Het
Klhl41 T C 2: 69,501,600 (GRCm39) Y354H probably damaging Het
Klra6 T C 6: 130,000,601 (GRCm39) I68V probably benign Het
Letm2 G T 8: 26,082,574 (GRCm39) P178Q probably damaging Het
Lypd11 C A 7: 24,422,170 (GRCm39) C193F possibly damaging Het
Mbtps1 A T 8: 120,249,340 (GRCm39) probably benign Het
Mecom C T 3: 30,035,121 (GRCm39) probably benign Het
Mrps5 T A 2: 127,433,745 (GRCm39) S45T possibly damaging Het
Msra T A 14: 64,678,210 (GRCm39) I29F possibly damaging Het
Mup5 T C 4: 61,751,229 (GRCm39) probably null Het
Myo1a T C 10: 127,555,111 (GRCm39) probably benign Het
Myrip C A 9: 120,270,443 (GRCm39) N564K probably benign Het
Naa20 T A 2: 145,757,592 (GRCm39) D148E probably damaging Het
Naga T G 15: 82,220,956 (GRCm39) probably benign Het
Npc1 A G 18: 12,346,503 (GRCm39) V231A probably benign Het
Nphs1 T C 7: 30,166,940 (GRCm39) F716L probably benign Het
Or8s5 T C 15: 98,238,810 (GRCm39) H20R probably benign Het
Parn G C 16: 13,472,299 (GRCm39) probably benign Het
Polk A T 13: 96,620,272 (GRCm39) C664S probably benign Het
Prkar2b A G 12: 32,026,034 (GRCm39) probably benign Het
Prkdc A G 16: 15,651,604 (GRCm39) E3747G probably damaging Het
Prmt5 A T 14: 54,748,712 (GRCm39) M362K probably damaging Het
Prob1 T C 18: 35,786,878 (GRCm39) T459A possibly damaging Het
Scn1a T C 2: 66,104,269 (GRCm39) M1664V probably damaging Het
Sez6 T A 11: 77,844,639 (GRCm39) L154H probably damaging Het
Sh3tc1 A G 5: 35,859,356 (GRCm39) probably benign Het
Shkbp1 C T 7: 27,048,006 (GRCm39) G334D probably damaging Het
Slc8a1 A T 17: 81,955,422 (GRCm39) F539I probably damaging Het
Spata31e5 G T 1: 28,817,223 (GRCm39) Q270K probably damaging Het
Sptan1 T C 2: 29,903,860 (GRCm39) probably benign Het
Ssc5d C T 7: 4,940,470 (GRCm39) T861M probably damaging Het
Tbx5 A T 5: 120,021,523 (GRCm39) M510L probably benign Het
Tdp1 A G 12: 99,876,101 (GRCm39) T351A probably benign Het
Tmc8 T A 11: 117,682,904 (GRCm39) probably benign Het
Tmco5 T A 2: 116,720,588 (GRCm39) D205E probably benign Het
Tmprss2 T C 16: 97,373,194 (GRCm39) probably benign Het
Top6bl A T 19: 4,708,442 (GRCm39) I350N probably damaging Het
Tph1 T A 7: 46,299,448 (GRCm39) K364N probably benign Het
Trim24 T C 6: 37,934,001 (GRCm39) L648P probably damaging Het
Trmt6 C A 2: 132,650,950 (GRCm39) probably benign Het
Ube2i A T 17: 25,488,259 (GRCm39) probably benign Het
Vcan A C 13: 89,852,779 (GRCm39) L727R possibly damaging Het
Vmn2r28 T C 7: 5,491,689 (GRCm39) Y186C probably damaging Het
Wars1 C A 12: 108,841,083 (GRCm39) D232Y probably damaging Het
Xrcc5 T C 1: 72,378,104 (GRCm39) probably benign Het
Zbtb24 T A 10: 41,340,532 (GRCm39) S543T probably damaging Het
Zfp91 A G 19: 12,753,353 (GRCm39) 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
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'- TGCACATGTACACGCACAGGAG -3'
(R):5'- ACACGCTCACCCCTTTAAGCTG -3'

Sequencing Primer
(F):5'- TACACGCACAGGAGTGAGG -3'
(R):5'- CTCTTACCTACAGAGGAGTTCTATG -3'
Posted On 2013-05-23