Mutagenetix > Incidental Mutation

Incidental Mutation 'R3014:Rttn'

257617

Institutional Source

Beutler Lab

Gene Symbol

Rttn

Ensembl Gene

ENSMUSG00000023066

Gene Name

rotatin

Synonyms

C530033I08Rik, 4921538A15Rik

MMRRC Submission

040535-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3014 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88989914-89149140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 89032744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 671 (V671L)

Ref Sequence

ENSEMBL: ENSMUSP00000023828 (fasta)

Gene Model

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

AlphaFold

Q8R4Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000023828
AA Change: V671L

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

SMART Domains

Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: V671L

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt4	G	T	2: 151,771,517 (GRCm39)	V278L	probably benign	Het
Dmbt1	A	G	7: 130,633,827 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,321,304 (GRCm39)	N3921K	probably benign	Het
Duxf4	G	A	10: 58,071,356 (GRCm39)	T286I	possibly damaging	Het
Fam193a	A	T	5: 34,623,016 (GRCm39)	E1201D	probably benign	Het
Gm10220	G	C	5: 26,322,826 (GRCm39)	D195E	probably damaging	Het
Gmps	A	G	3: 63,922,857 (GRCm39)	K607E	possibly damaging	Het
Gprin1	T	A	13: 54,886,288 (GRCm39)	D662V	probably benign	Het
Gria4	A	G	9: 4,464,294 (GRCm39)	I556T	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hcar2	A	T	5: 124,002,768 (GRCm39)	V245E	probably damaging	Het
Hmces	T	G	6: 87,894,823 (GRCm39)	D62E	probably benign	Het
Ighv1-4	T	A	12: 114,450,769 (GRCm39)	Y113F	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kng1	C	T	16: 22,898,120 (GRCm39)	H507Y	possibly damaging	Het
Lypd10	A	G	7: 24,412,821 (GRCm39)	I76M	possibly damaging	Het
Map3k5	A	T	10: 19,970,175 (GRCm39)	Y694F	probably damaging	Het
Myo1a	T	G	10: 127,552,214 (GRCm39)	F778V	probably damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad1	A	G	11: 50,875,534 (GRCm39)	D2G	probably benign	Het
Or4l1	G	A	14: 50,166,489 (GRCm39)	H171Y	probably benign	Het
Or6aa1	A	G	7: 86,043,884 (GRCm39)	V274A	probably benign	Het
Or6z6	A	T	7: 6,491,470 (GRCm39)	Y134*	probably null	Het
Parp3	C	A	9: 106,348,514 (GRCm39)	S507I	possibly damaging	Het
Ppip5k2	T	A	1: 97,671,800 (GRCm39)	T491S	probably damaging	Het
Psmg1	T	A	16: 95,781,248 (GRCm39)	I266F	probably damaging	Het
Ptpn23	T	C	9: 110,218,763 (GRCm39)	T476A	probably benign	Het
Srsf7	T	C	17: 80,508,990 (GRCm39)	E235G	unknown	Het
Sv2a	G	A	3: 96,096,751 (GRCm39)	W416*	probably null	Het
Tas2r107	A	G	6: 131,636,972 (GRCm39)	Y26H	probably benign	Het
Tenm2	T	C	11: 35,914,800 (GRCm39)	T2245A	probably damaging	Het
Vmn2r13	T	A	5: 109,319,627 (GRCm39)	H451L	possibly damaging	Het
Xkr6	T	C	14: 64,056,793 (GRCm39)	Y235H	unknown	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
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'- CCATATAGACTTGAACAGTTGGGTAG -3'
(R):5'- GAGATCAAGCGCATTCTGTATTTTG -3'

Sequencing Primer
(F):5'- ACTTGAACAGTTGGGTAGAAAAATC -3'
(R):5'- CAAGCGCATTCTGTATTTTGATTCAC -3'

Posted On

2015-01-11