Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Rttn'

617863

Institutional Source

Beutler Lab

Gene Symbol

Rttn

Ensembl Gene

ENSMUSG00000023066

Gene Name

rotatin

Synonyms

C530033I08Rik, 4921538A15Rik

MMRRC Submission

067468-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88989914-89149140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89108598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1601 (T1601A)

Ref Sequence

ENSEMBL: ENSMUSP00000023828 (fasta)

Gene Model

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

AlphaFold

Q8R4Y8

Predicted Effect

not run
Transcript: ENSMUST00000023828
AA Change: T1601A

SMART Domains

Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: T1601A

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,186,129 (GRCm39)	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,522,934 (GRCm39)	D36G	possibly damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,619,163 (GRCm39)	L468P	probably damaging	Het
Armc2	A	T	10: 41,802,996 (GRCm39)	L559Q	probably damaging	Het
Asb3	A	T	11: 31,051,180 (GRCm39)	R506*	probably null	Het
Aspm	A	G	1: 139,399,370 (GRCm39)	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,300,564 (GRCm39)	R2099S	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cd34	A	C	1: 194,640,860 (GRCm39)	M242L	probably benign	Het
Cdh24	T	A	14: 54,876,856 (GRCm39)	N49I	probably damaging	Het
Ces2b	A	G	8: 105,561,482 (GRCm39)	N192S	probably damaging	Het
Chsy3	A	G	18: 59,312,519 (GRCm39)	I331V	possibly damaging	Het
Disp1	A	G	1: 182,870,852 (GRCm39)	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,653,897 (GRCm39)	H44R	probably benign	Het
Dnajc30	G	T	5: 135,093,186 (GRCm39)	A28S	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd1	A	T	2: 119,359,204 (GRCm39)	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944 (GRCm39)	V291E	possibly damaging	Het
Get3	T	C	8: 85,746,456 (GRCm39)	M131V	probably benign	Het
Gfi1b	A	T	2: 28,503,687 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,109,508 (GRCm39)	I150L	probably benign	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Idua	T	C	5: 108,817,278 (GRCm39)	F17S	probably benign	Het
Ighg1	T	C	12: 113,292,765 (GRCm39)	K268R		Het
Lama1	G	T	17: 68,124,589 (GRCm39)	R2883M		Het
Lpar3	T	C	3: 145,946,718 (GRCm39)	M132T	probably benign	Het
Macf1	T	C	4: 123,338,685 (GRCm39)	T4351A	possibly damaging	Het
Marchf6	A	G	15: 31,496,148 (GRCm39)		probably null	Het
Mbtps1	C	A	8: 120,274,544 (GRCm39)		probably benign	Het
Mctp1	T	C	13: 77,178,005 (GRCm39)	Y931H	probably damaging	Het
Mug2	A	G	6: 122,058,504 (GRCm39)		probably null	Het
Myh1	G	T	11: 67,102,066 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,762,219 (GRCm39)	S497P	probably damaging	Het
Nectin4	A	G	1: 171,214,255 (GRCm39)	D470G	probably benign	Het
Nop2	C	T	6: 125,121,383 (GRCm39)	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,583,036 (GRCm39)	T626A	probably benign	Het
Nudt9	C	T	5: 104,198,477 (GRCm39)		probably benign	Het
Oplah	T	C	15: 76,189,896 (GRCm39)	Y143C	probably benign	Het
Or10a3m	T	A	7: 108,313,037 (GRCm39)	F159Y	possibly damaging	Het
Or12e10	A	G	2: 87,640,376 (GRCm39)	T71A	probably benign	Het
Or7e178	A	G	9: 20,225,643 (GRCm39)	F191S	possibly damaging	Het
Or7g20	T	C	9: 18,947,090 (GRCm39)	S224P	probably damaging	Het
Osbpl1a	T	G	18: 13,047,578 (GRCm39)	E125D	probably benign	Het
P2ry1	C	A	3: 60,910,943 (GRCm39)	N27K	possibly damaging	Het
Palld	A	T	8: 62,330,346 (GRCm39)	I177N	probably damaging	Het
Plcl1	A	T	1: 55,735,237 (GRCm39)	I193L	probably benign	Het
Polr1a	T	A	6: 71,889,940 (GRCm39)	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518 (GRCm39)	E531G	possibly damaging	Het
Prex1	C	A	2: 166,417,523 (GRCm39)	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,006,197 (GRCm39)	E795G	probably damaging	Het
Rars1	C	T	11: 35,711,992 (GRCm39)	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,590,997 (GRCm39)	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,622,720 (GRCm39)	L480H	probably benign	Het
Setd1a	C	G	7: 127,385,386 (GRCm39)	Q698E	probably benign	Het
Sh3gl3	T	C	7: 81,920,091 (GRCm39)	Y100H	probably benign	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,169,885 (GRCm39)	H610P	probably damaging	Het
Spata31d1e	T	C	13: 59,890,191 (GRCm39)	H543R	possibly damaging	Het
Spdl1	T	C	11: 34,713,419 (GRCm39)	R217G	probably benign	Het
Spop	G	A	11: 95,365,193 (GRCm39)	E113K	probably benign	Het
Sult2a3	G	A	7: 13,855,553 (GRCm39)	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,254,600 (GRCm39)	H348Y	probably damaging	Het
Tmie	T	C	9: 110,696,555 (GRCm39)	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,381,551 (GRCm39)	V140A	possibly damaging	Het
Ube2m	A	G	7: 12,770,524 (GRCm39)	L58P	probably damaging	Het
Urb1	A	G	16: 90,576,040 (GRCm39)	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,696,744 (GRCm39)	D221V	probably benign	Het
Vps41	C	T	13: 19,007,955 (GRCm39)	Q263*	probably null	Het
Zfand3	A	T	17: 30,354,407 (GRCm39)	T75S	probably benign	Het
Zscan26	A	G	13: 21,629,520 (GRCm39)	C202R	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
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
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

Posted On

2020-01-23