Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03328:Rttn'

416745

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 #

IGL03328

Quality Score

Status

Chromosome

Chromosomal Location

88989914-89149140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89061152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1107 (S1107A)

Ref Sequence

ENSEMBL: ENSMUSP00000023828 (fasta)

Gene Model

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

AlphaFold

Q8R4Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000023828
AA Change: S1107A

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: S1107A

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,211,355 (GRCm39)	M1556L	probably benign	Het
Aicda	T	G	6: 122,539,396 (GRCm39)	D187E	probably benign	Het
Arfgap3	A	C	15: 83,227,282 (GRCm39)	F43L	probably damaging	Het
AW551984	T	C	9: 39,508,412 (GRCm39)	E368G	probably damaging	Het
Bbs4	T	C	9: 59,251,401 (GRCm39)	E33G	probably damaging	Het
Bcas1	T	A	2: 170,208,316 (GRCm39)	K437*	probably null	Het
Brwd1	A	T	16: 95,803,925 (GRCm39)	W2082R	probably damaging	Het
Card6	A	T	15: 5,134,927 (GRCm39)		probably benign	Het
Cd200r4	A	G	16: 44,653,882 (GRCm39)	I226M	possibly damaging	Het
Cep57l1	T	C	10: 41,619,148 (GRCm39)	E73G	probably damaging	Het
Chaf1a	T	G	17: 56,370,374 (GRCm39)	F613C	probably damaging	Het
Clybl	G	T	14: 122,639,406 (GRCm39)	K323N	probably damaging	Het
Coa7	A	G	4: 108,195,479 (GRCm39)	D136G	probably damaging	Het
Col5a2	C	A	1: 45,415,306 (GRCm39)	V1478L	possibly damaging	Het
Ctnnd2	T	C	15: 30,921,993 (GRCm39)		probably benign	Het
Cyp4f17	T	G	17: 32,739,600 (GRCm39)	M174R	probably damaging	Het
Dnah10	A	T	5: 124,831,354 (GRCm39)	D794V	probably benign	Het
Eapp	A	G	12: 54,738,878 (GRCm39)	S87P	probably benign	Het
Efnb3	A	G	11: 69,448,031 (GRCm39)	I137T	probably damaging	Het
Eif4e	T	A	3: 138,259,488 (GRCm39)		probably benign	Het
Fam83b	T	A	9: 76,400,324 (GRCm39)	I260L	probably benign	Het
Fras1	A	G	5: 96,929,619 (GRCm39)	T4008A	probably damaging	Het
Fut8	A	T	12: 77,412,003 (GRCm39)	R118W	probably damaging	Het
Glt1d1	A	C	5: 127,734,183 (GRCm39)	D119A	probably benign	Het
Gm3727	T	A	14: 7,261,685 (GRCm38)	*206C	probably null	Het
Gmip	G	A	8: 70,264,261 (GRCm39)	V174M	possibly damaging	Het
Gtf2ird1	A	G	5: 134,417,983 (GRCm39)		probably null	Het
Haao	C	T	17: 84,154,078 (GRCm39)	C23Y	probably damaging	Het
Hip1	A	T	5: 135,453,728 (GRCm39)	V400E	probably damaging	Het
Keg1	A	G	19: 12,696,461 (GRCm39)	N215S	probably damaging	Het
Lss	T	G	10: 76,376,785 (GRCm39)	I334S	probably damaging	Het
Lyn	A	C	4: 3,745,327 (GRCm39)	E77D	probably benign	Het
Myo3a	A	G	2: 22,468,210 (GRCm39)	E1426G	probably benign	Het
Ncapg2	A	G	12: 116,403,677 (GRCm39)	E863G	possibly damaging	Het
Ncl	T	C	1: 86,280,319 (GRCm39)	Y496C	probably damaging	Het
Nefm	A	T	14: 68,358,739 (GRCm39)	S432T	probably benign	Het
Nipsnap1	A	G	11: 4,834,096 (GRCm39)	Y95C	possibly damaging	Het
Npc1l1	C	A	11: 6,168,643 (GRCm39)	E913*	probably null	Het
Nup205	T	C	6: 35,209,349 (GRCm39)	L1552P	probably damaging	Het
Or2t46	A	G	11: 58,472,539 (GRCm39)	N290D	probably damaging	Het
Or4c112	G	T	2: 88,854,199 (GRCm39)	Y49*	probably null	Het
Or52h7	T	A	7: 104,213,677 (GRCm39)	V83D	probably damaging	Het
Or7c70	C	T	10: 78,683,201 (GRCm39)	E183K	probably benign	Het
Osm	A	C	11: 4,188,426 (GRCm39)	I18L	unknown	Het
Otoa	T	A	7: 120,710,217 (GRCm39)	S254R	probably damaging	Het
Parp1	T	C	1: 180,427,155 (GRCm39)		probably benign	Het
Pcdh17	A	G	14: 84,770,551 (GRCm39)	I1010V	probably benign	Het
Peli2	A	T	14: 48,490,032 (GRCm39)		probably null	Het
Pkd1l3	T	G	8: 110,388,738 (GRCm39)		probably benign	Het
Pkhd1	A	G	1: 20,151,524 (GRCm39)		probably benign	Het
Polg2	A	C	11: 106,659,163 (GRCm39)	V450G	probably benign	Het
Potegl	A	T	2: 23,102,817 (GRCm39)	Y185F	possibly damaging	Het
Ptpn13	A	T	5: 103,664,214 (GRCm39)	T401S	probably benign	Het
Rgs22	C	T	15: 36,043,350 (GRCm39)		probably null	Het
Scn5a	G	T	9: 119,366,702 (GRCm39)	N328K	probably benign	Het
Sned1	G	A	1: 93,217,089 (GRCm39)	A1325T	probably benign	Het
St8sia4	T	A	1: 95,588,595 (GRCm39)	E80V	probably benign	Het
Stard7	T	C	2: 127,134,176 (GRCm39)		probably benign	Het
Suco	G	T	1: 161,647,990 (GRCm39)	P1099T	probably damaging	Het
Syn2	G	T	6: 115,251,221 (GRCm39)	C459F	probably damaging	Het
Tas2r117	A	C	6: 132,780,041 (GRCm39)	I60L	probably benign	Het
Tomm70a	T	C	16: 56,965,150 (GRCm39)	C445R	probably damaging	Het
Tpsab1	T	A	17: 25,564,102 (GRCm39)	D87V	probably benign	Het
Trgc4	A	G	13: 19,536,416 (GRCm39)	Y158C	unknown	Het
Trpm6	A	T	19: 18,815,446 (GRCm39)	E1177D	possibly damaging	Het
Vmn2r71	A	T	7: 85,273,499 (GRCm39)	D771V	probably damaging	Het
Vmn2r93	A	T	17: 18,525,220 (GRCm39)	T293S	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
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