Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:D430042O09Rik'

84551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D430042O09Rik

Ensembl Gene

ENSMUSG00000032743

Gene Name

RIKEN cDNA D430042O09 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

125707888-125874793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125870685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1442 (V1442D)

Ref Sequence

ENSEMBL: ENSMUSP00000065744 (fasta)

Gene Model

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

AlphaFold

Q8C753

Predicted Effect

probably damaging
Transcript: ENSMUST00000069660
AA Change: V1442D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: V1442D

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

unknown
Transcript: ENSMUST00000124223
AA Change: V1416D

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: V1416D

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

unknown
Transcript: ENSMUST00000132204
AA Change: V152D

SMART Domains

Protein: ENSMUSP00000115955
Gene: ENSMUSG00000032743
AA Change: V152D

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,444,849	L33F	probably benign	Het
Actr8	T	C	14: 29,990,970		probably null	Het
Aldh16a1	C	A	7: 45,141,967	A105S	probably damaging	Het
Angpt2	T	C	8: 18,710,625	T154A	probably benign	Het
BC051665	A	G	13: 60,782,704	V278A	probably damaging	Het
Cap1	T	C	4: 122,860,187	T458A	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,933,553	D408G	probably benign	Het
Fam217b	T	A	2: 178,421,150	S302R	probably damaging	Het
Fcho2	A	T	13: 98,789,807	D89E	probably benign	Het
Fnip1	C	T	11: 54,499,508	R434C	probably damaging	Het
Gga3	G	A	11: 115,589,102	T261M	probably damaging	Het
Gm21985	T	C	2: 112,339,396	F292L	probably damaging	Het
Gm43638	A	T	5: 87,486,215	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,680,764	G68E	probably damaging	Het
Lpcat2	G	A	8: 92,871,147	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,638,614	A1984T	possibly damaging	Het
Npy4r	T	A	14: 34,146,365	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,805,594	H840Q	probably damaging	Het
Olfr844	G	A	9: 19,319,233	G233D	probably damaging	Het
Osbpl2	G	T	2: 180,145,194		probably benign	Het
Pclo	T	A	5: 14,678,516		probably benign	Het
Pold4	T	C	19: 4,232,867		probably benign	Het
Ppp1r16a	A	G	15: 76,694,294		probably benign	Het
Pprc1	C	T	19: 46,065,232		probably benign	Het
Prkcg	A	G	7: 3,319,619	D343G	probably benign	Het
Scaf11	A	C	15: 96,419,126	S852R	probably benign	Het
Slc31a2	C	T	4: 62,292,696	T22I	probably damaging	Het
Sox30	T	A	11: 45,981,342	D341E	probably damaging	Het
Tle4	A	G	19: 14,465,340	S339P	probably benign	Het
Tsg101	A	T	7: 46,908,925	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,738,803	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,654,147	S142T	probably benign	Het
Ubr4	C	A	4: 139,412,736	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,338,653	P172Q	probably damaging	Het
Usp12	T	C	5: 146,754,440	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,552,932	M287L	probably benign	Het
Vwa8	C	T	14: 79,182,988	Q1710*	probably null	Het
Wdfy4	T	A	14: 33,104,037	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,463,305	T145A	probably benign	Het
Zfp697	T	C	3: 98,427,530	C204R	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
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
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
R9601:D430042O09Rik	UTSW	7	125842920	missense	probably benign	0.04
R9657:D430042O09Rik	UTSW	7	125842784	missense	probably benign
U24488:D430042O09Rik	UTSW	7	125770681	missense	probably damaging	0.96

Posted On

2013-11-11