Mutagenetix > Incidental Mutations

Incidental Mutation 'R7402:Rttn'

574305

Institutional Source

Beutler Lab

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 #

R7402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88971790-89131013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88985911 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 343 (T343M)

Ref Sequence

ENSEMBL: ENSMUSP00000023828 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023828
AA Change: T343M

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: T343M

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,706,075	P12Q	probably damaging	Het
Acsf3	A	G	8: 122,780,424	Y152C	probably damaging	Het
Adam22	T	A	5: 8,095,049	Q803L	possibly damaging	Het
Adamtsl3	G	A	7: 82,578,617	V1337I	probably damaging	Het
Adra1b	T	C	11: 43,776,018	D464G	possibly damaging	Het
Alpk3	T	A	7: 81,076,912	I115K	probably benign	Het
Amdhd2	A	G	17: 24,161,683	S96P		Het
Ankib1	T	G	5: 3,769,586	D111A	probably benign	Het
Arhgef2	A	G	3: 88,633,566	D216G	probably damaging	Het
Astn1	A	T	1: 158,552,855		probably benign	Het
Atrn	T	A	2: 130,947,600	W328R	probably damaging	Het
Atxn7	A	T	14: 14,095,427	H375L	probably damaging	Het
BC003331	A	G	1: 150,386,356		probably null	Het
Btaf1	A	T	19: 37,003,515	N1579Y	probably damaging	Het
Cacna1b	A	T	2: 24,607,659	L2079Q	probably benign	Het
Ccdc102a	T	C	8: 94,903,353	K520R	probably damaging	Het
Cd2ap	T	C	17: 42,805,163	H602R	possibly damaging	Het
Cdkn2aip	A	G	8: 47,711,373	V435A	possibly damaging	Het
Cenpf	A	T	1: 189,659,378	Y735*	probably null	Het
Cep350	T	A	1: 155,928,215	I1041L	probably benign	Het
Ckap4	A	G	10: 84,527,999	V400A	probably damaging	Het
Comp	T	A	8: 70,377,204	D359E	probably benign	Het
Coq10b	A	C	1: 55,061,341	K61N	probably benign	Het
Csmd2	A	C	4: 128,322,095	S548R		Het
Csmd2	G	A	4: 128,322,096	S548N		Het
Ctif	A	G	18: 75,611,736	I99T	probably benign	Het
Ctns	T	G	11: 73,193,077	T40P	possibly damaging	Het
Cyp11b1	C	T	15: 74,840,825	R129H	probably damaging	Het
Cyp2c68	A	T	19: 39,740,874	N56K	probably benign	Het
D6Wsu163e	A	G	6: 126,962,005	K401R	probably damaging	Het
Dstn	T	A	2: 143,938,448	C23S	probably benign	Het
Fam214a	C	A	9: 75,006,386	Y107*	probably null	Het
Fam72a	A	T	1: 131,538,875	E132D	probably damaging	Het
Fam72a	G	T	1: 131,538,876	E133*	probably null	Het
Gbp8	T	A	5: 105,031,295	I113F	probably damaging	Het
Gm3095	A	T	14: 3,964,463	R60S	possibly damaging	Het
Gpa33	A	T	1: 166,152,694	M109L	probably damaging	Het
Grik2	A	G	10: 49,535,397	L215P	probably damaging	Het
Gucy2g	A	C	19: 55,206,293	F897L	probably damaging	Het
Hinfp	A	G	9: 44,298,017	L295P	probably damaging	Het
Ift122	T	C	6: 115,894,322	V526A	probably benign	Het
Ighv5-12	T	C	12: 113,702,233	T82A	probably benign	Het
Il18rap	T	A	1: 40,524,951	S76R	probably benign	Het
Itga6	A	T	2: 71,853,553	N1045I	probably benign	Het
Kctd21	A	T	7: 97,347,763	I148F	possibly damaging	Het
Kif28	T	A	1: 179,740,079	H42L	probably benign	Het
Kmt2c	A	C	5: 25,395,420	C326W	probably damaging	Het
Knl1	T	A	2: 119,095,226	L1912*	probably null	Het
Lrfn1	A	T	7: 28,459,522	I289F	probably damaging	Het
Lrriq1	T	C	10: 103,221,324	K205R	possibly damaging	Het
Mbd5	A	T	2: 49,257,554	N592I	probably damaging	Het
Mbl2	A	G	19: 30,239,402	N205D	possibly damaging	Het
Mcm4	C	A	16: 15,637,178	M1I	probably null	Het
Mgat4a	T	A	1: 37,454,784	H327L	probably damaging	Het
Miox	A	G	15: 89,335,003	D16G	probably benign	Het
Mvk	C	A	5: 114,455,978	P298Q	possibly damaging	Het
Nol6	A	G	4: 41,118,699	L726P	probably damaging	Het
Nos1	T	C	5: 117,949,815	I1381T	probably benign	Het
Nup98	A	T	7: 102,134,937	S1063T	probably benign	Het
Obscn	T	G	11: 58,995,449	M7862L	unknown	Het
Obsl1	T	C	1: 75,487,704	T1653A	probably benign	Het
Olfr1044	A	G	2: 86,171,202	I205T	probably benign	Het
Olfr1202	G	T	2: 88,817,343	M57I	probably damaging	Het
Olfr1497	C	T	19: 13,794,994	V206I	probably damaging	Het
Olfr968	T	A	9: 39,771,964	T279S	probably benign	Het
Pcdhb20	A	G	18: 37,504,952	Y177C	probably benign	Het
Pcdhb3	A	C	18: 37,301,604	I208L	probably benign	Het
Phlpp1	G	T	1: 106,389,690	G1214W	probably damaging	Het
Ppp4r3a	A	T	12: 101,058,794	S149T	possibly damaging	Het
Pxdn	T	C	12: 30,002,439	C872R	probably damaging	Het
Rarb	A	G	14: 16,548,419	C101R	probably damaging	Het
Rcor3	A	C	1: 192,127,983	V114G	probably benign	Het
Rnpepl1	A	G	1: 92,919,650	Q653R	probably benign	Het
Rpap2	T	A	5: 107,620,458	Y387*	probably null	Het
Samd11	T	C	4: 156,248,773	T333A	probably benign	Het
Six5	T	C	7: 19,095,043	L136P	probably damaging	Het
Slc12a5	T	A	2: 164,982,932	M419K	probably benign	Het
Slc22a21	T	C	11: 53,960,400	M179V	probably benign	Het
Slc35a4	A	G	18: 36,680,517	D6G	unknown	Het
Spdye4c	A	T	2: 128,592,341	M1L	probably benign	Het
Svep1	A	T	4: 58,069,699	C2696S	possibly damaging	Het
Tceanc2	T	C	4: 107,147,696	N85S	probably benign	Het
Teddm2	A	T	1: 153,850,597	L124Q	probably damaging	Het
Teddm2	G	C	1: 153,850,598	L124V	probably benign	Het
Tgfbr1	T	A	4: 47,405,623	W409R	probably damaging	Het
Tkt	A	G	14: 30,558,798	D62G	probably damaging	Het
Tnrc6b	T	A	15: 80,884,300	V1054D	probably damaging	Het
Trpm7	C	A	2: 126,799,206	L1564F	probably damaging	Het
Vmn1r43	A	T	6: 89,869,821	C228S	probably benign	Het
Vmn2r106	T	C	17: 20,267,621	R839G	probably damaging	Het
Vmn2r5	G	A	3: 64,495,755	T523I	probably benign	Het
Vwa3b	C	T	1: 37,114,597	Q507*	probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Zfp281	T	G	1: 136,625,452	L56R	probably damaging	Het
Zfp407	G	A	18: 84,561,536	T484I	probably benign	Het
Zfp451	T	C	1: 33,813,762	T24A	probably benign	Het
Zfp607b	T	A	7: 27,693,494	F16I	probably damaging	Het
Zfp638	T	A	6: 83,928,688	V41E	possibly 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
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
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
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'- AGTACATGCTGGGTAAGGGC -3'
(R):5'- GCTAACCTGTTCTCAGCAGAG -3'

Sequencing Primer
(F):5'- AGTGCCATTGAGCTGCAC -3'
(R):5'- AGAGGAGCTGCTGCCTC -3'

Posted On

2019-09-13