Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03368:D430042O09Rik'

420203

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 #

IGL03368

Quality Score

Status

Chromosome

Chromosomal Location

125707888-125874793 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 125868858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8C753

Predicted Effect

probably benign
Transcript: ENSMUST00000069660

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743

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: 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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,222,373	V1914A	probably benign	Het
A530053G22Rik	T	C	6: 60,403,545		noncoding transcript	Het
Abca5	A	G	11: 110,313,522		probably benign	Het
Agxt2	T	A	15: 10,388,170	C278*	probably null	Het
Ankar	A	G	1: 72,675,813	L384P	probably damaging	Het
Ankrd55	T	C	13: 112,318,556		probably benign	Het
Ap5m1	A	G	14: 49,081,136		probably benign	Het
Arhgap18	C	T	10: 26,772,693	S37F	possibly damaging	Het
Btnl10	G	A	11: 58,919,386	V118I	possibly damaging	Het
Chst11	C	A	10: 83,092,146	P66T	probably benign	Het
Cited2	C	A	10: 17,724,196	P84Q	possibly damaging	Het
Dpy19l4	T	A	4: 11,290,253	I302F	possibly damaging	Het
Ece2	A	G	16: 20,644,158	E640G	possibly damaging	Het
Fam184b	T	C	5: 45,531,824	D890G	possibly damaging	Het
Fam227b	A	T	2: 126,119,063	D215E	probably damaging	Het
Foxp2	A	G	6: 15,394,718	K139R	probably damaging	Het
Gle1	T	C	2: 29,943,793	C401R	probably damaging	Het
Gp2	A	T	7: 119,452,874	C206S	probably damaging	Het
Hdgfl2	G	T	17: 56,079,746		probably benign	Het
Hmcn1	T	C	1: 150,663,872	N2956S	probably damaging	Het
Ifi209	A	G	1: 173,642,491	Q215R	possibly damaging	Het
Il20rb	C	T	9: 100,459,121		probably benign	Het
Kif26b	A	C	1: 178,916,208	S1290R	probably damaging	Het
Mical1	A	G	10: 41,479,629	I156M	probably damaging	Het
Nbas	C	T	12: 13,328,451	A613V	probably benign	Het
Nbea	C	T	3: 56,079,930	V380M	probably damaging	Het
Nutf2	T	C	8: 105,875,600	F14S	probably damaging	Het
Olfr1260	A	T	2: 89,977,789	I4L	probably benign	Het
Olfr582	T	A	7: 103,041,765	H95Q	possibly damaging	Het
Parp1	A	G	1: 180,580,622	E236G	probably benign	Het
Podnl1	G	A	8: 84,132,189	V548I	probably benign	Het
Ptcd2	T	A	13: 99,330,069		probably benign	Het
Pygl	T	C	12: 70,191,152	Q704R	probably benign	Het
Scaper	A	T	9: 55,656,027	S492T	possibly damaging	Het
Sephs1	G	A	2: 4,889,269	D94N	possibly damaging	Het
Slc22a29	A	C	19: 8,207,262		probably null	Het
Slc22a8	G	T	19: 8,609,119		probably benign	Het
Slfn5	A	G	11: 82,956,385	D32G	possibly damaging	Het
Sphkap	T	A	1: 83,275,676	T1451S	probably benign	Het
Srp54a	A	C	12: 55,091,266	E63A	probably null	Het
Stap1	T	A	5: 86,090,968	I165N	probably damaging	Het
Terf2	T	C	8: 107,070,549	E494G	probably damaging	Het
Trak1	C	A	9: 121,367,122	L7I	possibly damaging	Het
Twnk	T	C	19: 45,010,492	V557A	probably damaging	Het
U2af2	T	A	7: 5,067,264		probably benign	Het
Ube2j1	T	A	4: 33,038,317	I75N	probably damaging	Het
Ubr5	A	G	15: 37,998,316	V1643A	probably damaging	Het
Vsx2	A	G	12: 84,570,300	T120A	probably benign	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
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
R8700:D430042O09Rik	UTSW	7	125829870	splice site	probably benign
R8812:D430042O09Rik	UTSW	7	125797695	missense	probably benign	0.26
R8942:D430042O09Rik	UTSW	7	125850803	missense	probably damaging	1.00
R9216:D430042O09Rik	UTSW	7	125872754	missense	probably damaging	1.00
R9254:D430042O09Rik	UTSW	7	125870676	missense	probably damaging	1.00
R9263:D430042O09Rik	UTSW	7	125870695	missense	probably damaging	1.00
R9379:D430042O09Rik	UTSW	7	125870676	missense	probably damaging	1.00
U24488:D430042O09Rik	UTSW	7	125770681	missense	probably damaging	0.96

Posted On

2016-08-02