Mutagenetix > Incidental Mutations

Incidental Mutation 'R5799:Rttn'

447429

Institutional Source

Beutler Lab

Gene Symbol

Rttn

Ensembl Gene

ENSMUSG00000023066

Gene Name

rotatin

Synonyms

C530033I08Rik, 4921538A15Rik

MMRRC Submission

043388-MU

Accession Numbers

Ncbi RefSeq: NM_175542.3; MGI:2179288

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88971790-89131013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89037946 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 984 (V984A)

Ref Sequence

ENSEMBL: ENSMUSP00000023828 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023828
AA Change: V984A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: V984A

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

Meta Mutation Damage Score

0.1706

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

89% (51/57)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	T	C	10: 116,112,769	E284G	probably damaging	Het
AA986860	C	T	1: 130,741,171	Q92*	probably null	Het
Accsl	T	C	2: 93,864,403		probably null	Het
Ahnak2	T	C	12: 112,778,930		probably benign	Het
Alcam	T	C	16: 52,309,849	D46G	probably benign	Het
Asap2	T	C	12: 21,168,246	S57P	probably damaging	Het
Atg14	A	T	14: 47,547,295	V314D	possibly damaging	Het
C230029F24Rik	C	T	1: 49,338,148		noncoding transcript	Het
Calcr	A	T	6: 3,707,592	I236N	probably benign	Het
Cass4	G	A	2: 172,416,187	G35E	probably damaging	Het
Chmp6	T	C	11: 119,916,691	I120T	probably benign	Het
Col13a1	A	G	10: 61,849,140		probably benign	Het
Ddhd2	T	A	8: 25,748,602	L328F	probably damaging	Het
Dnmt3l	A	G	10: 78,052,026	D123G	possibly damaging	Het
Eea1	T	A	10: 96,002,948	V287E	possibly damaging	Het
Efcc1	A	G	6: 87,731,182	N97S	probably benign	Het
Exd1	A	G	2: 119,538,781	S118P	probably benign	Het
Ext2	G	T	2: 93,811,972	T184K	probably benign	Het
Fam186a	G	A	15: 99,966,824	Q42*	probably null	Het
Gbp2	A	T	3: 142,632,082	I320L	probably benign	Het
Gm15292	T	A	8: 21,250,343		probably null	Het
Gm5483	T	A	16: 36,184,261	M1K	probably null	Het
Gramd2	G	A	9: 59,708,016	G13R	probably benign	Het
H2-Q5	T	C	17: 35,394,139	M5T	unknown	Het
Jak3	C	T	8: 71,678,700	L70F	probably damaging	Het
Lhpp	G	A	7: 132,705,635	V254M	probably damaging	Het
Lig1	T	A	7: 13,296,258	V387E	possibly damaging	Het
Lipo1	T	C	19: 33,777,693		probably benign	Het
Lrrc8b	C	T	5: 105,481,342	S518L	probably benign	Het
Narf	T	C	11: 121,244,654	Y111H	probably damaging	Het
Ncf4	A	G	15: 78,250,977	K78R	probably benign	Het
Nrap	A	T	19: 56,342,169	C1118*	probably null	Het
Nubp2	A	G	17: 24,885,798	V23A	probably damaging	Het
Olfr723	A	T	14: 49,929,040	F168Y	probably damaging	Het
Olfr818	A	T	10: 129,945,911	D50E	possibly damaging	Het
Olfr972	T	C	9: 39,874,096	S274P	possibly damaging	Het
Pdzd7	G	A	19: 45,036,989	P356S	probably benign	Het
Ryr3	A	G	2: 112,686,580	S3334P	probably damaging	Het
Senp7	G	A	16: 56,139,105		probably null	Het
Slc25a3	A	C	10: 91,122,041	Y50D	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc38a2	A	T	15: 96,695,089	S163T	probably benign	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Stam2	A	T	2: 52,720,910	C4*	probably null	Het
Taf1a	A	G	1: 183,395,934	D50G	possibly damaging	Het
Taf6l	A	T	19: 8,782,631	Y106N	possibly damaging	Het
Tbx20	G	A	9: 24,725,520	Q424*	probably null	Het
Tex10	A	G	4: 48,433,295	V829A	possibly damaging	Het
Tgfbr3	T	C	5: 107,109,608		probably benign	Het
Tnfsf10	G	T	3: 27,335,593	V268F	probably damaging	Het
Trrap	A	G	5: 144,830,945	T2571A	probably benign	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
IGL02228:Rttn	APN	18	89042231	missense	probably damaging	1.00
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
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	intron	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	intron	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
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
X0017:Rttn	UTSW	18	89113402	missense	probably benign	0.01
X0022:Rttn	UTSW	18	88973667	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTACTTTCAATTCAGGTGGCAGC -3'
(R):5'- GAAAGTTCAATTTTCTTCCCGCTAC -3'

Sequencing Primer
(F):5'- GCAGCAAGCACTTGACTATATG -3'
(R):5'- AGACAGTGACTTCCCCTT -3'

Posted On

2016-12-15