Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02148:D430042O09Rik'

281867

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 #

IGL02148

Quality Score

Status

Chromosome

Chromosomal Location

125707888-125874793 bp(+) (GRCm38)

Type of Mutation

splice site (1224 bp from exon)

DNA Base Change (assembly)

A to T at 125873476 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069660] [ENSMUST00000073935] [ENSMUST00000124223]

Predicted Effect

probably null
Transcript: ENSMUST00000069660
AA Change: K1602*

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: K1602*

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: ENSMUST00000073935

SMART Domains

Protein: ENSMUSP00000073591
Gene: ENSMUSG00000046182

Domain	Start	End	E-Value	Type
Pfam:GSG-1	5	122	4.9e-46	PFAM
Pfam:PMP22_Claudin	8	227	8.5e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000124223
AA Change: K1576*

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: K1576*

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 null
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: 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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	A	T	13: 98,984,183	F112I	probably damaging	Het
Akna	C	T	4: 63,382,479		probably benign	Het
AU040320	T	C	4: 126,839,676	V663A	possibly damaging	Het
Cdh13	A	G	8: 119,198,958	D355G	probably damaging	Het
Cdyl2	A	G	8: 116,589,244		probably benign	Het
Csnk1g3	C	T	18: 53,953,288	R422C	probably benign	Het
Dclk1	T	A	3: 55,500,099	V233D	probably damaging	Het
Ddx59	T	C	1: 136,433,827	S477P	probably damaging	Het
Epb41l1	A	T	2: 156,511,828		probably benign	Het
Epha2	T	C	4: 141,318,524	L453P	probably damaging	Het
Esco2	T	C	14: 65,826,595	H380R	probably benign	Het
Fbxo38	T	C	18: 62,536,227	M51V	probably benign	Het
Fgb	T	C	3: 83,043,287	M387V	probably damaging	Het
Fryl	A	G	5: 73,075,959	L1522S	probably benign	Het
Gdf9	T	A	11: 53,436,742	M175K	probably benign	Het
Gm13023	T	A	4: 143,792,734	Y22N	probably benign	Het
Gm20547	C	T	17: 34,860,548	D243N	probably benign	Het
Gramd1b	T	A	9: 40,315,764	D299V	probably damaging	Het
Gsg1l	G	T	7: 125,923,499	Q186K	possibly damaging	Het
Kcnh5	A	G	12: 74,897,652	L941P	possibly damaging	Het
Lrrc8d	A	G	5: 105,812,387	D221G	possibly damaging	Het
Med19	T	C	2: 84,685,259	F96L	probably damaging	Het
Mei1	C	A	15: 82,092,711	S589*	probably null	Het
Myh15	G	T	16: 49,116,315	D708Y	probably damaging	Het
Naca	C	T	10: 128,043,884		probably benign	Het
Olfr1173	A	T	2: 88,274,222	Y276N	possibly damaging	Het
Otog	G	A	7: 46,300,587	C306Y	probably damaging	Het
Phldb1	T	C	9: 44,696,072	K1279E	probably damaging	Het
Pkd1	C	T	17: 24,579,836	T369I	probably damaging	Het
Plekha8	A	G	6: 54,615,286	S32G	probably damaging	Het
Sema4g	A	G	19: 44,996,469	T113A	probably damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Sh3rf3	T	C	10: 59,086,740	M546T	probably benign	Het
Slc27a5	A	G	7: 12,994,951	V328A	probably damaging	Het
Spef1	T	C	2: 131,172,768	N78S	probably benign	Het
Tln1	T	C	4: 43,555,388	T179A	probably damaging	Het
Tmc5	T	C	7: 118,645,324	I475T	probably damaging	Het
Top2b	A	G	14: 16,400,488	Y621C	probably damaging	Het
Ttf1	T	C	2: 29,079,426	F727L	probably benign	Het
Tufm	T	C	7: 126,489,160	L75P	probably damaging	Het
Ugt1a2	T	A	1: 88,201,074	D146E	probably damaging	Het
Usp15	G	A	10: 123,127,837	T533I	probably damaging	Het
Vmn1r113	A	G	7: 20,787,822	T180A	probably benign	Het
Vmn1r205	G	T	13: 22,592,225	P236T	probably damaging	Het
Vmn2r112	T	G	17: 22,619,032	C825G	probably damaging	Het
Zfp712	T	A	13: 67,042,158	I102F	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
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
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