Mutagenetix > Incidental Mutation

Incidental Mutation 'R1630:Rttn'

172767

Institutional Source

Beutler Lab

Gene Symbol

Rttn

Ensembl Gene

ENSMUSG00000023066

Gene Name

rotatin

Synonyms

C530033I08Rik, 4921538A15Rik

MMRRC Submission

039667-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88989914-89149140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89061078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1082 (I1082T)

Ref Sequence

ENSEMBL: ENSMUSP00000023828 (fasta)

Gene Model

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

AlphaFold

Q8R4Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000023828
AA Change: I1082T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023828
Gene: ENSMUSG00000023066
AA Change: I1082T

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

100% (67/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429P17Rik	C	A	13: 48,114,201 (GRCm39)		noncoding transcript	Het
9930012K11Rik	T	C	14: 70,394,629 (GRCm39)	E175G	probably benign	Het
A630091E08Rik	A	G	7: 98,192,814 (GRCm39)		noncoding transcript	Het
Atm	A	T	9: 53,390,973 (GRCm39)	L1867Q	probably damaging	Het
Atp5f1a	A	G	18: 77,865,267 (GRCm39)	D63G	possibly damaging	Het
Baz2b	A	T	2: 59,836,474 (GRCm39)	S20T	unknown	Het
C1qtnf7	G	A	5: 43,766,503 (GRCm39)	C34Y	possibly damaging	Het
Cactin	A	G	10: 81,159,559 (GRCm39)	T353A	probably benign	Het
Cdyl	A	G	13: 35,867,786 (GRCm39)	K21E	possibly damaging	Het
Crispld1	A	G	1: 17,799,022 (GRCm39)	T48A	probably benign	Het
Csmd3	T	A	15: 47,701,918 (GRCm39)	T1722S	possibly damaging	Het
Dapk1	A	T	13: 60,877,345 (GRCm39)	E528V	probably damaging	Het
Dennd4a	A	G	9: 64,779,164 (GRCm39)	D549G	probably benign	Het
Dnajc5b	C	A	3: 19,628,905 (GRCm39)	N66K	probably damaging	Het
Dusp16	G	T	6: 134,697,524 (GRCm39)	R250S	probably damaging	Het
F10	A	G	8: 13,105,551 (GRCm39)	N384S	probably benign	Het
Gabrr2	A	G	4: 33,085,647 (GRCm39)	S331G	probably damaging	Het
Gm12185	A	C	11: 48,798,717 (GRCm39)	I592S	probably benign	Het
Gm9755	T	C	8: 67,967,312 (GRCm39)		noncoding transcript	Het
Hspg2	T	C	4: 137,245,746 (GRCm39)	L913P	probably damaging	Het
Ifna1	T	A	4: 88,768,566 (GRCm39)	S81R	probably benign	Het
Iqgap2	T	C	13: 95,826,293 (GRCm39)	K510E	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lhx6	A	G	2: 35,992,913 (GRCm39)	Y140H	probably damaging	Het
Lix1	A	G	17: 17,677,420 (GRCm39)	H205R	probably damaging	Het
Masp2	A	T	4: 148,698,490 (GRCm39)	T524S	probably benign	Het
Mndal	A	C	1: 173,701,958 (GRCm39)	F115V	possibly damaging	Het
Morc3	C	A	16: 93,663,421 (GRCm39)	N541K	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Nes	T	A	3: 87,884,984 (GRCm39)	V1037E	probably benign	Het
Nfkbil1	A	G	17: 35,440,140 (GRCm39)	W178R	probably damaging	Het
Nobox	A	T	6: 43,284,146 (GRCm39)	C8*	probably null	Het
Nwd1	A	G	8: 73,393,657 (GRCm39)	T348A	possibly damaging	Het
Or1e23	T	C	11: 73,407,546 (GRCm39)	T160A	probably damaging	Het
Or5bw2	T	C	7: 6,573,673 (GRCm39)	S228P	probably damaging	Het
Or8k17	A	G	2: 86,066,430 (GRCm39)	S243P	probably damaging	Het
Osbp2	T	C	11: 3,667,167 (GRCm39)	T448A	probably benign	Het
Plrg1	A	G	3: 82,966,070 (GRCm39)	D75G	probably benign	Het
Ppp1r8	T	C	4: 132,556,748 (GRCm39)	E213G	probably benign	Het
Rad54l2	A	G	9: 106,580,828 (GRCm39)	F898L	possibly damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rasl10a	G	C	11: 5,009,542 (GRCm39)	R110P	probably damaging	Het
Sema6d	A	G	2: 124,506,265 (GRCm39)	D734G	possibly damaging	Het
Sgce	C	T	6: 4,719,476 (GRCm39)	V44M	probably damaging	Het
Sgo2b	A	G	8: 64,380,831 (GRCm39)	V667A	possibly damaging	Het
Shcbp1	A	T	8: 4,798,763 (GRCm39)	C118*	probably null	Het
Slain2	C	T	5: 73,133,347 (GRCm39)	P563S	probably damaging	Het
Slco1b2	A	T	6: 141,602,547 (GRCm39)	I167F	probably damaging	Het
Speg	T	C	1: 75,399,621 (GRCm39)	L2356P	probably damaging	Het
Sptbn4	A	G	7: 27,118,164 (GRCm39)	V305A	probably benign	Het
Sspo	G	A	6: 48,434,658 (GRCm39)	R1050H	probably benign	Het
Tmem106b	A	G	6: 13,081,540 (GRCm39)	N149S	probably benign	Het
Tmem200a	T	C	10: 25,868,812 (GRCm39)	T486A	probably damaging	Het
Tmem212	T	A	3: 27,939,250 (GRCm39)	T79S	possibly damaging	Het
Ttll11	A	G	2: 35,779,337 (GRCm39)	V471A	probably damaging	Het
Vill	A	G	9: 118,899,769 (GRCm39)	N318D	probably benign	Het
Vmn2r102	A	G	17: 19,899,032 (GRCm39)	D458G	possibly damaging	Het
Zfp472	T	A	17: 33,196,952 (GRCm39)	C342*	probably null	Het
Zfp963	A	T	8: 70,196,837 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCGTATTGAAAAGCATATGAAGCCA -3'
(R):5'- GCATTTCTCTCATGATAGCAACTGCAC -3'

Sequencing Primer
(F):5'- TTGAAAAGCATATGAAGCCAAACAG -3'
(R):5'- AAGTCACTCAAACTGGCGG -3'

Posted On

2014-04-24