Mutagenetix > Incidental Mutation

Incidental Mutation 'R1881:Rttn'

209155

Institutional Source

Beutler Lab

Gene Symbol

Rttn

Ensembl Gene

ENSMUSG00000023066

Gene Name

rotatin

Synonyms

C530033I08Rik, 4921538A15Rik

MMRRC Submission

039902-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88989914-89149140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89033336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 716 (S716T)

Ref Sequence

ENSEMBL: ENSMUSP00000023828 (fasta)

Gene Model

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

AlphaFold

Q8R4Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000023828
AA Change: S716T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: S716T

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

0.0935

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

96% (71/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	A	11: 84,161,213 (GRCm39)	Y1026*	probably null	Het
Acaca	T	G	11: 84,191,297 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,678,503 (GRCm39)	M483I	probably damaging	Het
Adgrb2	G	A	4: 129,904,078 (GRCm39)	G735S	probably damaging	Het
Akap9	A	G	5: 4,100,173 (GRCm39)	T2612A	probably benign	Het
Armc1	A	T	3: 19,189,060 (GRCm39)	S202T	possibly damaging	Het
Arsj	T	C	3: 126,232,486 (GRCm39)	S411P	probably damaging	Het
Ash1l	T	C	3: 88,888,862 (GRCm39)	V247A	probably benign	Het
Camta2	T	C	11: 70,562,842 (GRCm39)	D935G	probably benign	Het
Cc2d2a	G	T	5: 43,898,170 (GRCm39)	V1626F	probably damaging	Het
Cpne3	T	A	4: 19,535,266 (GRCm39)	R255S	probably benign	Het
Cramp1	A	G	17: 25,196,656 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cstf3	A	T	2: 104,484,563 (GRCm39)	M396L	probably benign	Het
Ctnnd2	A	G	15: 31,005,227 (GRCm39)		probably benign	Het
Cul7	A	T	17: 46,962,888 (GRCm39)	Y173F	probably damaging	Het
Dach1	A	T	14: 98,138,832 (GRCm39)	M537K	probably benign	Het
Ddhd2	T	C	8: 26,217,727 (GRCm39)	I717V	probably damaging	Het
Dnm1	C	T	2: 32,213,742 (GRCm39)	V475I	probably damaging	Het
Dnm3	C	T	1: 162,305,517 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,405,597 (GRCm39)		probably benign	Het
Eaf2	A	T	16: 36,620,941 (GRCm39)		probably benign	Het
En1	T	A	1: 120,530,904 (GRCm39)	V48E	unknown	Het
Eral1	T	A	11: 77,966,875 (GRCm39)	H180L	possibly damaging	Het
Fry	T	A	5: 150,401,511 (GRCm39)	C2760S	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ifnl2	T	A	7: 28,209,112 (GRCm39)	R68W	probably damaging	Het
Il6st	A	G	13: 112,640,947 (GRCm39)	T908A	probably damaging	Het
Krtap4-1	C	T	11: 99,518,990 (GRCm39)	G7S	probably null	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mup5	C	A	4: 61,752,868 (GRCm39)	E52*	probably null	Het
Myh15	A	G	16: 48,891,446 (GRCm39)	I189V	probably damaging	Het
Nav3	T	A	10: 109,688,420 (GRCm39)	Q619L	probably damaging	Het
Or14a257	T	C	7: 86,138,646 (GRCm39)	M38V	probably benign	Het
Or1p1	A	T	11: 74,179,492 (GRCm39)	T7S	probably benign	Het
Or4n4b	A	G	14: 50,536,472 (GRCm39)	I98T	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Pam	T	C	1: 97,850,876 (GRCm39)	T161A	probably benign	Het
Phf8-ps	T	A	17: 33,284,258 (GRCm39)	D848V	probably damaging	Het
Pigs	T	C	11: 78,232,582 (GRCm39)	V472A	probably benign	Het
Plek	A	T	11: 16,940,111 (GRCm39)	N176K	probably benign	Het
Poc5	A	G	13: 96,535,239 (GRCm39)	N168S	probably benign	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Slc25a20	G	A	9: 108,557,408 (GRCm39)		probably null	Het
Slc5a6	A	T	5: 31,194,155 (GRCm39)	L634Q	probably damaging	Het
Slfn3	A	G	11: 83,104,202 (GRCm39)	I235V	possibly damaging	Het
Smarcc1	T	A	9: 110,004,167 (GRCm39)	L407Q	probably damaging	Het
Spata32	T	C	11: 103,101,561 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,723,783 (GRCm39)		probably null	Het
Thada	A	G	17: 84,744,130 (GRCm39)	V726A	probably benign	Het
Tmed7	A	T	18: 46,721,622 (GRCm39)		probably null	Het
Tmem161a	G	A	8: 70,633,435 (GRCm39)	G94S	probably null	Het
Tmem81	T	A	1: 132,435,948 (GRCm39)		probably benign	Het
Trim63	C	A	4: 134,043,702 (GRCm39)	A55E	probably damaging	Het
Trmt1	A	C	8: 85,415,896 (GRCm39)		probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Tshz3	T	C	7: 36,471,079 (GRCm39)	S1023P	possibly damaging	Het
Upk3bl	G	A	5: 136,086,157 (GRCm39)	R31Q	probably benign	Het
Usp40	T	C	1: 87,921,993 (GRCm39)	D290G	probably benign	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r26	T	A	6: 57,985,650 (GRCm39)	T180S	probably benign	Het
Wdr48	G	T	9: 119,738,606 (GRCm39)	V89L	probably benign	Het
Wdr6	G	T	9: 108,450,378 (GRCm39)		probably null	Het
Zfp345	A	G	2: 150,314,275 (GRCm39)	Y421H	probably damaging	Het

Other mutations in Rttn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGGAGCAAATTCATTAGTACCAG -3'
(R):5'- GATAGCCACACACTTCCTGC -3'

Sequencing Primer
(F):5'- GAGAAGTTGATTTTTCACCTTTTCAG -3'
(R):5'- GCTCACTTATCCCCAGTGC -3'

Posted On

2014-06-30