Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:D430042O09Rik'

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301659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D430042O09Rik

Ensembl Gene

ENSMUSG00000032743

Gene Name

RIKEN cDNA D430042O09 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

125707888-125874793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125872792 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1518 (I1518V)

Ref Sequence

ENSEMBL: ENSMUSP00000118668 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069660
AA Change: I1544V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: I1544V

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 damaging
Transcript: ENSMUST00000124223
AA Change: I1518V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: I1518V

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: ENSMUST00000132204

SMART Domains

Protein: ENSMUSP00000115955
Gene: ENSMUSG00000032743

Domain	Start	End	E-Value	Type
Pfam:DUF4457	1	143	3.6e-51	PFAM
Pfam:DUF4457	139	219	2.4e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205462

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 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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,429,804	R71*	probably null	Het
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,649,620	M675T	probably damaging	Het
Baz1a	A	G	12: 54,896,025		probably benign	Het
Cd5l	T	C	3: 87,368,506	V261A	probably damaging	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,658,749	Q176L	probably benign	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fibcd1	G	A	2: 31,817,150	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hells	G	T	19: 38,938,429	L84F	probably damaging	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr116	A	T	17: 37,623,987	I216N	probably benign	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pola2	A	G	19: 5,953,774	V191A	probably benign	Het
Slc22a8	A	T	19: 8,593,959	Y18F	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	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
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
R6345:D430042O09Rik	UTSW	7	125752987	missense	probably damaging	0.97
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

Posted On

2015-04-16