Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02228:Rttn'

285396

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rttn

Ensembl Gene

ENSMUSG00000023066

Gene Name

rotatin

Synonyms

C530033I08Rik, 4921538A15Rik

Accession Numbers

Ncbi RefSeq: NM_175542.3; MGI:2179288

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02228

Quality Score

Status

Chromosome

Chromosomal Location

88971790-89131013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89042231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1019 (V1019E)

Ref Sequence

ENSEMBL: ENSMUSP00000023828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023828]

AlphaFold

Q8R4Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000023828
AA Change: V1019E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: V1019E

Domain	Start	End	E-Value	Type
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

Validation Efficiency

MGI Phenotype

Strain: 2674124
Lethality: E9-E12
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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	C	12: 84,016,964	V282A	probably benign	Het
Acsm5	A	G	7: 119,531,866	D169G	probably damaging	Het
Adam8	C	T	7: 139,988,806		probably null	Het
Agpat1	T	C	17: 34,610,562	F37L	possibly damaging	Het
Asah2	A	T	19: 32,016,714	D410E	probably benign	Het
Atg2a	T	A	19: 6,246,800	V378D	probably benign	Het
Atp1a4	T	C	1: 172,254,885	Y130C	possibly damaging	Het
B020004J07Rik	T	C	4: 101,836,858	Y276C	probably benign	Het
Bnc2	T	C	4: 84,293,076	H419R	possibly damaging	Het
Capza3	A	G	6: 140,041,915	D80G	probably benign	Het
Col6a4	C	T	9: 106,068,078	D946N	probably benign	Het
Crat	T	C	2: 30,413,182	H31R	probably damaging	Het
Dsc2	A	G	18: 20,043,733	V419A	probably damaging	Het
Ebf1	T	C	11: 44,972,912	V363A	probably damaging	Het
Gm13119	A	G	4: 144,362,661	K183R	probably damaging	Het
Lcp2	T	C	11: 34,047,424	F24S	probably damaging	Het
Lgmn	G	A	12: 102,395,714	T376I	probably benign	Het
Lrrc8d	C	T	5: 105,811,864	L47F	probably benign	Het
Mier1	T	A	4: 103,131,062	M44K	possibly damaging	Het
Ogfod1	C	A	8: 94,062,987	Q439K	probably benign	Het
Olfr303	A	C	7: 86,395,078	I140S	possibly damaging	Het
Pcgf6	A	C	19: 47,047,982	F216C	probably damaging	Het
Pcnt	C	T	10: 76,389,474	R1732K	probably benign	Het
Rbbp4	A	T	4: 129,317,750	H370Q	probably damaging	Het
Reln	A	G	5: 21,904,731	V3127A	probably damaging	Het
Serpina9	C	T	12: 104,008,600	R98Q	probably benign	Het
Slc16a7	C	A	10: 125,230,798	G324V	probably damaging	Het
Slc22a3	A	G	17: 12,459,810	L209P	probably damaging	Het
Tet1	T	A	10: 62,813,734	T1695S	probably damaging	Het
Tulp3	G	A	6: 128,334,485	T74M	probably damaging	Het
Ube3a	A	G	7: 59,288,396		probably benign	Het
Ufl1	A	T	4: 25,281,686	S23T	probably benign	Het
Unc80	A	G	1: 66,608,428	E1509G	possibly damaging	Het
Wnk2	A	T	13: 49,056,940	I1801N	probably damaging	Het

Other mutations in Rttn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Rttn	APN	18	88974340	missense	probably benign	0.00
IGL00788:Rttn	APN	18	88972509	missense	probably benign	0.00
IGL00929:Rttn	APN	18	89028935	missense	probably damaging	1.00
IGL01392:Rttn	APN	18	88995613	missense	probably benign	0.03
IGL01395:Rttn	APN	18	89129770	missense	possibly damaging	0.89
IGL01701:Rttn	APN	18	89064215	missense	probably damaging	1.00
IGL02136:Rttn	APN	18	89046128	missense	possibly damaging	0.87
IGL02151:Rttn	APN	18	89020205	missense	probably damaging	1.00
IGL02165:Rttn	APN	18	89043041	missense	probably benign
IGL02276:Rttn	APN	18	89048454	missense	possibly damaging	0.94
IGL02612:Rttn	APN	18	88973626	missense	probably damaging	1.00
IGL02645:Rttn	APN	18	89110686	missense	probably benign	0.04
IGL02716:Rttn	APN	18	89048417	missense	possibly damaging	0.77
IGL02820:Rttn	APN	18	89028998	missense	probably damaging	1.00
IGL02961:Rttn	APN	18	89053573	missense	probably damaging	1.00
IGL02973:Rttn	APN	18	88972494	missense	probably damaging	1.00
IGL03027:Rttn	APN	18	88979690	missense	probably damaging	1.00
IGL03082:Rttn	APN	18	88983948	missense	probably damaging	1.00
IGL03121:Rttn	APN	18	88975751	missense	probably damaging	1.00
IGL03135:Rttn	APN	18	89015150	missense	probably damaging	1.00
IGL03328:Rttn	APN	18	89043028	missense	probably benign	0.19
Fascisti	UTSW	18	89009460	splice site	probably benign
marcher	UTSW	18	89037946	missense	probably damaging	0.99
militaristi	UTSW	18	89010916	missense	probably damaging	1.00
R0062:Rttn	UTSW	18	89010966	critical splice donor site	probably null
R0062:Rttn	UTSW	18	89010966	critical splice donor site	probably null
R0310:Rttn	UTSW	18	89009460	splice site	probably benign
R0330:Rttn	UTSW	18	88986080	splice site	probably null
R0363:Rttn	UTSW	18	89010955	missense	probably damaging	1.00
R0485:Rttn	UTSW	18	89090419	splice site	probably benign
R0590:Rttn	UTSW	18	88979635	missense	probably damaging	1.00
R0601:Rttn	UTSW	18	89042966	missense	probably benign	0.00
R0604:Rttn	UTSW	18	88977758	missense	probably damaging	1.00
R0631:Rttn	UTSW	18	88989546	missense	probably benign	0.00
R0882:Rttn	UTSW	18	88973689	nonsense	probably null
R0885:Rttn	UTSW	18	88983810	missense	probably benign	0.03
R0900:Rttn	UTSW	18	89101691	missense	probably benign	0.13
R1077:Rttn	UTSW	18	89064249	missense	probably damaging	1.00
R1444:Rttn	UTSW	18	89042867	missense	probably benign	0.04
R1460:Rttn	UTSW	18	89109357	splice site	probably benign
R1517:Rttn	UTSW	18	89113350	missense	probably benign	0.01
R1630:Rttn	UTSW	18	89042954	missense	probably benign	0.02
R1632:Rttn	UTSW	18	89009336	missense	probably benign	0.18
R1722:Rttn	UTSW	18	88973531	missense	probably benign	0.34
R1755:Rttn	UTSW	18	89009317	missense	probably damaging	1.00
R1881:Rttn	UTSW	18	89015212	missense	probably damaging	0.96
R1971:Rttn	UTSW	18	89090433	missense	probably benign
R2035:Rttn	UTSW	18	89020216	missense	probably damaging	1.00
R2109:Rttn	UTSW	18	88986073	missense	possibly damaging	0.93
R2191:Rttn	UTSW	18	89095648	critical splice donor site	probably null
R2201:Rttn	UTSW	18	89010943	missense	possibly damaging	0.88
R2266:Rttn	UTSW	18	89064171	missense	probably benign	0.05
R3014:Rttn	UTSW	18	89014620	missense	probably damaging	1.00
R3052:Rttn	UTSW	18	89015246	splice site	probably benign
R3427:Rttn	UTSW	18	89095651	splice site	probably null
R3431:Rttn	UTSW	18	89095571	missense	probably benign	0.04
R3786:Rttn	UTSW	18	89037894	missense	probably benign	0.00
R3803:Rttn	UTSW	18	88977707	missense	probably damaging	0.96
R3980:Rttn	UTSW	18	89017275	missense	probably benign	0.12
R4035:Rttn	UTSW	18	88995653	missense	probably benign	0.03
R4170:Rttn	UTSW	18	88975723	missense	probably damaging	1.00
R4223:Rttn	UTSW	18	89095584	missense	probably damaging	1.00
R4273:Rttn	UTSW	18	89091896	missense	probably benign
R4517:Rttn	UTSW	18	89028973	missense	probably damaging	0.99
R4674:Rttn	UTSW	18	89011011	splice site	probably null
R4837:Rttn	UTSW	18	89090415	splice site	probably null
R4869:Rttn	UTSW	18	89043014	nonsense	probably null
R4881:Rttn	UTSW	18	89101685	missense	probably damaging	1.00
R4959:Rttn	UTSW	18	89042168	missense	probably damaging	1.00
R4973:Rttn	UTSW	18	89042168	missense	probably damaging	1.00
R4975:Rttn	UTSW	18	89064085	splice site	probably null
R5166:Rttn	UTSW	18	89013094	missense	possibly damaging	0.48
R5243:Rttn	UTSW	18	89108063	missense	possibly damaging	0.74
R5594:Rttn	UTSW	18	89090436	missense	possibly damaging	0.95
R5654:Rttn	UTSW	18	89048432	missense	probably benign
R5794:Rttn	UTSW	18	88995569	missense	probably benign	0.18
R5799:Rttn	UTSW	18	89037946	missense	probably damaging	0.99
R5955:Rttn	UTSW	18	89121009	missense	probably damaging	0.99
R5963:Rttn	UTSW	18	89073695	missense	probably benign	0.01
R5989:Rttn	UTSW	18	88973626	missense	probably damaging	1.00
R6004:Rttn	UTSW	18	89021692	missense	probably damaging	0.96
R6132:Rttn	UTSW	18	89115646	critical splice donor site	probably null
R6430:Rttn	UTSW	18	89021685	missense	probably null	0.18
R6436:Rttn	UTSW	18	89110729	missense	probably damaging	1.00
R6681:Rttn	UTSW	18	89014611	missense	probably damaging	1.00
R6994:Rttn	UTSW	18	89028899	missense	probably damaging	1.00
R7049:Rttn	UTSW	18	89064216	missense	probably damaging	1.00
R7078:Rttn	UTSW	18	89009422	missense	probably benign	0.03
R7083:Rttn	UTSW	18	89090598	missense	probably damaging	1.00
R7250:Rttn	UTSW	18	88989523	missense	probably benign	0.03
R7402:Rttn	UTSW	18	88985911	missense	possibly damaging	0.92
R7565:Rttn	UTSW	18	89060479	missense	probably damaging	1.00
R7588:Rttn	UTSW	18	89064229	missense	probably damaging	0.97
R8029:Rttn	UTSW	18	89090474	missense	not run
R8085:Rttn	UTSW	18	89053548	nonsense	probably null
R8113:Rttn	UTSW	18	89010916	missense	probably damaging	1.00
R8355:Rttn	UTSW	18	89028892	missense	probably benign	0.05
R8531:Rttn	UTSW	18	89113343	missense	probably benign	0.00
R8992:Rttn	UTSW	18	88977708	missense	probably benign	0.24
R9008:Rttn	UTSW	18	89009432	missense	probably damaging	1.00
R9139:Rttn	UTSW	18	89020137	missense	probably benign	0.30
R9210:Rttn	UTSW	18	89046162	critical splice donor site	probably null
R9212:Rttn	UTSW	18	89046162	critical splice donor site	probably null
R9286:Rttn	UTSW	18	88977725	missense	probably benign	0.06
R9368:Rttn	UTSW	18	89060452	missense	probably damaging	1.00
R9632:Rttn	UTSW	18	89017210	missense	possibly damaging	0.82
R9710:Rttn	UTSW	18	89017210	missense	possibly damaging	0.82
X0017:Rttn	UTSW	18	89113402	missense	probably benign	0.01
X0022:Rttn	UTSW	18	88973667	nonsense	probably null

Posted On

2015-04-16