Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03135:Rttn'

410473

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rttn

Ensembl Gene

ENSMUSG00000023066

Gene Name

rotatin

Synonyms

C530033I08Rik, 4921538A15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03135

Quality Score

Status

Chromosome

Chromosomal Location

88989914-89149140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89033274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 695 (L695Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023828 (fasta)

Gene Model

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

AlphaFold

Q8R4Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000023828
AA Change: L695Q

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

SMART Domains

Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: L695Q

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apmap	A	C	2: 150,429,035 (GRCm39)	M196R	possibly damaging	Het
Arhgap27	T	A	11: 103,229,891 (GRCm39)		probably null	Het
Arl8b	A	C	6: 108,795,506 (GRCm39)	N148T	probably benign	Het
Baz1a	A	G	12: 54,976,375 (GRCm39)	F434L	probably damaging	Het
Birc2	A	G	9: 7,849,722 (GRCm39)		probably benign	Het
Brwd1	C	A	16: 95,822,458 (GRCm39)	R1249I	probably damaging	Het
Cab39l	T	C	14: 59,757,100 (GRCm39)	F161L	probably benign	Het
Ccr8	A	T	9: 119,923,689 (GRCm39)	D268V	possibly damaging	Het
Col25a1	A	T	3: 130,323,332 (GRCm39)		probably benign	Het
Cpn1	A	G	19: 43,974,693 (GRCm39)	L12P	possibly damaging	Het
Dnah6	A	G	6: 73,121,987 (GRCm39)	I1360T	probably benign	Het
Dnajb8	A	G	6: 88,200,013 (GRCm39)	E183G	probably damaging	Het
Dpp8	T	A	9: 64,960,322 (GRCm39)		probably null	Het
Fsd1	C	A	17: 56,297,416 (GRCm39)		probably null	Het
Grina	T	A	15: 76,132,162 (GRCm39)	F28I	possibly damaging	Het
H2-M3	G	A	17: 37,583,324 (GRCm39)	D262N	possibly damaging	Het
Hdgfl3	G	A	7: 81,543,587 (GRCm39)	T188M	probably damaging	Het
Kif18b	A	G	11: 102,805,086 (GRCm39)	I353T	probably damaging	Het
Lrrc41	C	A	4: 115,945,728 (GRCm39)	R148S	probably benign	Het
Lrrc8e	T	A	8: 4,285,776 (GRCm39)	L667Q	probably damaging	Het
Lrrk1	A	G	7: 65,912,638 (GRCm39)	F1641L	probably benign	Het
Naaladl1	A	T	19: 6,162,386 (GRCm39)	T443S	probably benign	Het
Naga	C	A	15: 82,214,942 (GRCm39)	V339F	probably damaging	Het
Nedd4l	A	G	18: 65,338,741 (GRCm39)	K702E	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Parp14	A	G	16: 35,678,381 (GRCm39)	M529T	probably damaging	Het
Parp8	A	G	13: 117,047,478 (GRCm39)	V198A	probably benign	Het
Pcdhb19	A	T	18: 37,631,588 (GRCm39)	H461L	probably benign	Het
Ppp6r1	T	C	7: 4,645,159 (GRCm39)	D236G	possibly damaging	Het
Psg21	T	C	7: 18,388,843 (GRCm39)	D83G	probably benign	Het
Ptpru	A	G	4: 131,546,111 (GRCm39)	C308R	probably damaging	Het
Ralgds	T	A	2: 28,439,100 (GRCm39)	S696T	probably damaging	Het
Scel	A	T	14: 103,823,950 (GRCm39)	I393F	probably benign	Het
Serpina3j	T	A	12: 104,281,166 (GRCm39)	I113N	probably damaging	Het
Slc4a3	C	A	1: 75,524,579 (GRCm39)		probably benign	Het
Slc6a11	A	T	6: 114,171,570 (GRCm39)		probably null	Het
Slc8a3	C	T	12: 81,249,023 (GRCm39)	V802M	probably damaging	Het
Smarcal1	T	A	1: 72,655,660 (GRCm39)		probably null	Het
Tmprss11c	A	G	5: 86,385,509 (GRCm39)	V308A	probably damaging	Het
Trim10	A	G	17: 37,185,113 (GRCm39)	R279G	possibly damaging	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Trio	T	C	15: 27,832,097 (GRCm39)		probably benign	Het
Urgcp	G	A	11: 5,666,091 (GRCm39)	T749I	possibly damaging	Het
Vmn2r60	A	G	7: 41,786,018 (GRCm39)	I274V	probably benign	Het
Vps11	A	G	9: 44,267,653 (GRCm39)	F40L	probably benign	Het
Ywhab	A	G	2: 163,857,195 (GRCm39)	I157V	probably benign	Het
Zfp638	G	A	6: 83,919,857 (GRCm39)	R485H	probably damaging	Het
Zfp944	A	G	17: 22,558,737 (GRCm39)	I170T	probably benign	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
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
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

Posted On

2016-08-02