Mutagenetix > Incidental Mutations

Incidental Mutation 'R6345:D430042O09Rik'

514107

Institutional Source

Beutler Lab

Gene Symbol

D430042O09Rik

Ensembl Gene

ENSMUSG00000032743

Gene Name

RIKEN cDNA D430042O09 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125707888-125874793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 125752987 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 26 (D26E)

Ref Sequence

ENSEMBL: ENSMUSP00000065744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069660] [ENSMUST00000124223] [ENSMUST00000148701]

Predicted Effect

probably damaging
Transcript: ENSMUST00000069660
AA Change: D26E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: D26E

Domain	Start	End	E-Value	Type
internal_repeat_3	442	586	9.64e-5	PROSPERO
internal_repeat_2	454	607	1.91e-6	PROSPERO
low complexity region	704	718	N/A	INTRINSIC
Pfam:DUF4457	909	1099	5.1e-43	PFAM
Pfam:DUF4457	1205	1524	8.4e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124223

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743

Domain	Start	End	E-Value	Type
internal_repeat_3	416	560	8.9e-5	PROSPERO
internal_repeat_2	428	581	1.74e-6	PROSPERO
low complexity region	678	692	N/A	INTRINSIC
Pfam:DUF4457	882	1073	1.4e-39	PFAM
Pfam:DUF4457	1179	1498	2.2e-145	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148701

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit variable obstructive hydrocephaly and enlarged lateral ventricles resulting from a blockage of cerebrospinal fluid flow in the cerebral aqueduct but show no gross defects in ventricular ependymal cilium structure or motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,226,051	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,929,434	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266	R437G	probably damaging	Het
Atp9a	C	T	2: 168,676,173	S264N	probably damaging	Het
AY358078	A	C	14: 51,826,292	Y465S	probably damaging	Het
Bin3	G	A	14: 70,137,227	R235Q	probably benign	Het
Bsn	G	A	9: 108,107,355	P3167S	unknown	Het
Camk2g	G	A	14: 20,737,375	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,909,989		probably null	Het
Ccnjl	A	T	11: 43,585,338	T263S	probably benign	Het
Col17a1	G	T	19: 47,653,379	P944T	possibly damaging	Het
Cyp2c39	A	T	19: 39,513,171		probably null	Het
Cyp2c39	G	T	19: 39,513,172		probably null	Het
Cyp4a32	T	C	4: 115,602,363	V98A	possibly damaging	Het
Dnah9	A	G	11: 66,037,693	V2050A	probably damaging	Het
F5	A	G	1: 164,191,951	N665S	probably benign	Het
Fbxl6	A	T	15: 76,535,854	C520S	probably damaging	Het
Fscn2	C	A	11: 120,362,027	H107N	probably damaging	Het
Gfm2	C	T	13: 97,162,953	T367M	probably damaging	Het
Gle1	C	G	2: 29,936,115	P69A	probably benign	Het
Gpr156	A	T	16: 37,987,519	D176V	probably damaging	Het
Grip2	A	G	6: 91,765,388	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,841,638	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,594,170	R296*	probably null	Het
Ighv1-39	C	T	12: 114,914,859	V31M	possibly damaging	Het
Itgav	A	G	2: 83,802,036	E956G	probably damaging	Het
Lsm8	A	G	6: 18,853,645	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,715,239	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,817,468	I216N	possibly damaging	Het
Muc16	G	A	9: 18,654,926	T2099I	unknown	Het
Myh7	T	C	14: 54,983,692	R925G	probably damaging	Het
Myo1h	T	A	5: 114,351,708	I658N	probably damaging	Het
Myo5a	A	T	9: 75,189,913	D81V	possibly damaging	Het
Nell1	G	A	7: 49,975,423	C12Y	possibly damaging	Het
Obscn	T	C	11: 59,053,696	Y4724C	probably damaging	Het
Olfr1055	A	G	2: 86,347,548	Y73H	probably damaging	Het
Pah	G	A	10: 87,576,187	D315N	probably damaging	Het
Per2	A	G	1: 91,448,722	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,100,299	V38A	probably benign	Het
Pld1	A	G	3: 28,130,747		probably benign	Het
Plekhh2	A	G	17: 84,575,787	N761S	probably benign	Het
Polh	T	C	17: 46,182,738	I318V	probably benign	Het
Prex1	T	C	2: 166,572,960	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,263,257	S1440T	probably benign	Het
Rbm19	G	T	5: 120,127,040	W382L	possibly damaging	Het
Rchy1	T	C	5: 91,957,942	D49G	probably benign	Het
Ric1	A	G	19: 29,604,085	D1402G	probably benign	Het
S1pr3	G	T	13: 51,419,031	A83S	probably damaging	Het
S1pr3	C	A	13: 51,419,032	A83D	probably damaging	Het
Selplg	G	A	5: 113,820,149	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,149,995	R355G	probably damaging	Het
Slx4	G	C	16: 3,990,850	Q409E	probably benign	Het
Sntg1	A	C	1: 8,583,284	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,248,488	D682Y	probably damaging	Het
Spen	C	T	4: 141,471,633	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,628,200	E69G	probably damaging	Het
Tasp1	C	A	2: 139,951,537	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,034,608	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,776,882	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,251,922	M718T	probably damaging	Het

Other mutations in D430042O09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:D430042O09Rik	APN	7	125795450	missense	possibly damaging	0.75
IGL00950:D430042O09Rik	APN	7	125843221	missense	probably benign
IGL01089:D430042O09Rik	APN	7	125795313	missense	probably damaging	1.00
IGL01099:D430042O09Rik	APN	7	125865320	missense	probably damaging	1.00
IGL01449:D430042O09Rik	APN	7	125870685	missense	probably damaging	1.00
IGL01545:D430042O09Rik	APN	7	125752971	critical splice acceptor site	probably null
IGL01937:D430042O09Rik	APN	7	125854605	missense	probably benign	0.13
IGL01949:D430042O09Rik	APN	7	125761842	nonsense	probably null
IGL02096:D430042O09Rik	APN	7	125814821	missense	probably benign	0.09
IGL02148:D430042O09Rik	APN	7	125873476	splice site	probably null
IGL02274:D430042O09Rik	APN	7	125770570	critical splice acceptor site	probably null
IGL02323:D430042O09Rik	APN	7	125842829	missense	probably benign	0.04
IGL02574:D430042O09Rik	APN	7	125829753	missense	possibly damaging	0.48
IGL02639:D430042O09Rik	APN	7	125872792	missense	probably damaging	1.00
IGL02833:D430042O09Rik	APN	7	125850412	nonsense	probably null
IGL03003:D430042O09Rik	APN	7	125851960	missense	probably damaging	1.00
IGL03011:D430042O09Rik	APN	7	125852002	missense	probably benign	0.01
IGL03332:D430042O09Rik	APN	7	125820105	nonsense	probably null
IGL03368:D430042O09Rik	APN	7	125868858	intron	probably benign
E0370:D430042O09Rik	UTSW	7	125850302	missense	probably benign	0.06
PIT4498001:D430042O09Rik	UTSW	7	125813596	missense	probably benign
R0033:D430042O09Rik	UTSW	7	125761827	missense	possibly damaging	0.77
R0033:D430042O09Rik	UTSW	7	125761827	missense	possibly damaging	0.77
R0234:D430042O09Rik	UTSW	7	125795385	missense	probably benign	0.00
R0234:D430042O09Rik	UTSW	7	125795385	missense	probably benign	0.00
R0472:D430042O09Rik	UTSW	7	125872967	missense	probably damaging	0.98
R0479:D430042O09Rik	UTSW	7	125843346	missense	probably benign	0.20
R1195:D430042O09Rik	UTSW	7	125866482	missense	probably damaging	1.00
R1195:D430042O09Rik	UTSW	7	125866482	missense	probably damaging	1.00
R1195:D430042O09Rik	UTSW	7	125866482	missense	probably damaging	1.00
R1223:D430042O09Rik	UTSW	7	125760423	missense	possibly damaging	0.75
R1299:D430042O09Rik	UTSW	7	125852023	missense	probably benign
R1331:D430042O09Rik	UTSW	7	125866455	missense	probably benign	0.00
R1484:D430042O09Rik	UTSW	7	125816571	splice site	probably benign
R1507:D430042O09Rik	UTSW	7	125866352	missense	probably damaging	1.00
R1562:D430042O09Rik	UTSW	7	125842848	missense	probably damaging	1.00
R1992:D430042O09Rik	UTSW	7	125820089	missense	probably benign	0.00
R2008:D430042O09Rik	UTSW	7	125860566	missense	probably damaging	1.00
R2010:D430042O09Rik	UTSW	7	125872956	missense	possibly damaging	0.93
R2147:D430042O09Rik	UTSW	7	125865320	missense	probably damaging	1.00
R2508:D430042O09Rik	UTSW	7	125795343	missense	probably benign
R3015:D430042O09Rik	UTSW	7	125866340	missense	probably damaging	1.00
R3794:D430042O09Rik	UTSW	7	125820089	missense	probably benign	0.00
R3795:D430042O09Rik	UTSW	7	125820089	missense	probably benign	0.00
R4043:D430042O09Rik	UTSW	7	125868741	missense	probably benign	0.30
R4044:D430042O09Rik	UTSW	7	125868741	missense	probably benign	0.30
R4692:D430042O09Rik	UTSW	7	125867669	critical splice donor site	probably null
R4772:D430042O09Rik	UTSW	7	125865351	missense	probably damaging	0.96
R5155:D430042O09Rik	UTSW	7	125872184	missense	probably damaging	1.00
R5467:D430042O09Rik	UTSW	7	125843355	missense	possibly damaging	0.65
R5551:D430042O09Rik	UTSW	7	125820077	missense	probably damaging	1.00
R5560:D430042O09Rik	UTSW	7	125854561	missense	probably benign	0.00
R5662:D430042O09Rik	UTSW	7	125842703	missense	probably benign	0.00
R5667:D430042O09Rik	UTSW	7	125843455	critical splice donor site	probably null
R5838:D430042O09Rik	UTSW	7	125867655	missense	possibly damaging	0.88
R5958:D430042O09Rik	UTSW	7	125813635	missense	probably benign	0.01
R5983:D430042O09Rik	UTSW	7	125850373	missense	probably damaging	1.00
R6084:D430042O09Rik	UTSW	7	125814865	missense	probably benign
R6241:D430042O09Rik	UTSW	7	125872834	missense	probably benign	0.00
R6298:D430042O09Rik	UTSW	7	125870697	missense	probably benign	0.11
R6554:D430042O09Rik	UTSW	7	125850742	missense	probably damaging	1.00
R6715:D430042O09Rik	UTSW	7	125761829	nonsense	probably null
R6745:D430042O09Rik	UTSW	7	125770650	missense	probably benign	0.00
R7178:D430042O09Rik	UTSW	7	125866327	missense	probably benign	0.00
R7210:D430042O09Rik	UTSW	7	125872239	missense	probably damaging	1.00
R7404:D430042O09Rik	UTSW	7	125865262	missense	probably damaging	1.00
R7561:D430042O09Rik	UTSW	7	125842722	missense	probably benign
R7571:D430042O09Rik	UTSW	7	125708021	unclassified	probably benign
R7584:D430042O09Rik	UTSW	7	125870666	missense	probably damaging	0.99
R7629:D430042O09Rik	UTSW	7	125795250	missense	probably damaging	0.96
R7676:D430042O09Rik	UTSW	7	125850377	missense	probably benign	0.26
R7748:D430042O09Rik	UTSW	7	125829801	missense	probably benign	0.00
R7786:D430042O09Rik	UTSW	7	125865294	missense	probably benign	0.19
R8058:D430042O09Rik	UTSW	7	125843016	missense	probably benign	0.17
R8154:D430042O09Rik	UTSW	7	125813630	missense	probably damaging	0.98
R8204:D430042O09Rik	UTSW	7	125850742	missense	probably damaging	1.00
R8359:D430042O09Rik	UTSW	7	125868851	critical splice donor site	probably null
U24488:D430042O09Rik	UTSW	7	125770681	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGTGAGCTTGAGACCCACTG -3'
(R):5'- AGTGCTGGCAATAACCTCAG -3'

Sequencing Primer
(F):5'- ACTGGGCTTCCACACAGTC -3'
(R):5'- AATAACCTCAGTCTCTGCATGGGG -3'

Posted On

2018-04-27