Mutagenetix > Incidental Mutations

Incidental Mutation 'R1331:D430042O09Rik'

156192

Institutional Source

Beutler Lab

Gene Symbol

D430042O09Rik

Ensembl Gene

ENSMUSG00000032743

Gene Name

RIKEN cDNA D430042O09 gene

Synonyms

MMRRC Submission

039396-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125707888-125874793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125866455 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1360 (T1360A)

Ref Sequence

ENSEMBL: ENSMUSP00000065744 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069660
AA Change: T1360A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: T1360A

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

noncoding transcript
Transcript: ENSMUST00000122337

SMART Domains

Protein: ENSMUSP00000113734
Gene: ENSMUSG00000032743

Domain	Start	End	E-Value	Type
Pfam:DUF4457	173	344	2.7e-9	PFAM
Pfam:DUF4457	218	394	3.2e-10	PFAM
low complexity region	444	458	N/A	INTRINSIC
Pfam:DUF4457	660	742	1.1e-14	PFAM
Pfam:DUF4457	733	863	2.6e-31	PFAM
Pfam:DUF4457	944	1008	5.9e-21	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000124223
AA Change: T1334A

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: T1334A

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: T107A

SMART Domains

Protein: ENSMUSP00000115955
Gene: ENSMUSG00000032743
AA Change: T107A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 93.0%

Validation Efficiency

100% (59/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	T	11: 69,882,376		probably null	Het
Acat1	T	C	9: 53,584,883	D318G	probably benign	Het
Ahdc1	T	C	4: 133,063,691	F748L	probably benign	Het
Alkbh8	T	A	9: 3,347,916		probably null	Het
Arhgef26	A	G	3: 62,340,028	T178A	probably benign	Het
Bid	C	T	6: 120,897,255	A110T	possibly damaging	Het
Ccdc180	T	C	4: 45,909,359	V509A	possibly damaging	Het
Ccdc39	T	C	3: 33,815,485	E731G	probably benign	Het
Cenpf	A	G	1: 189,642,801	V2931A	probably damaging	Het
Cobl	A	T	11: 12,375,853	N207K	probably damaging	Het
Col14a1	T	A	15: 55,410,188	W718R	unknown	Het
Dnah7a	A	G	1: 53,468,669	I3081T	probably damaging	Het
Dync1h1	T	C	12: 110,649,264	V2977A	probably damaging	Het
Ephb4	A	G	5: 137,366,534		probably benign	Het
Eri3	T	C	4: 117,564,907		probably benign	Het
Fbxo24	A	G	5: 137,619,629	V291A	probably damaging	Het
Glra1	A	C	11: 55,515,070	S282A	probably benign	Het
Gm7589	C	A	9: 59,146,042		noncoding transcript	Het
H6pd	T	C	4: 149,982,415	N505D	probably benign	Het
Hdlbp	T	A	1: 93,421,131	N566Y	probably damaging	Het
Hsp90aa1	C	A	12: 110,692,820	K514N	probably damaging	Het
Impdh1	A	T	6: 29,206,478	V120D	probably damaging	Het
Loxhd1	C	T	18: 77,402,936	P1411S	possibly damaging	Het
Lpl	A	G	8: 68,896,629	E269G	probably damaging	Het
Map1a	G	T	2: 121,306,220	E2268*	probably null	Het
Mark1	T	C	1: 184,928,048	E137G	probably damaging	Het
Mki67	A	T	7: 135,698,276	S1676R	possibly damaging	Het
Mogat2	T	C	7: 99,223,515	Y154C	possibly damaging	Het
Myo18a	C	G	11: 77,841,579	I859M	probably benign	Het
Myo7a	A	G	7: 98,107,008	V39A	probably benign	Het
Nedd4	T	A	9: 72,677,386	I123N	probably damaging	Het
Obscn	A	G	11: 59,086,928	V1966A	probably benign	Het
Olfr853	T	C	9: 19,537,546	N128S	probably benign	Het
Orc3	T	G	4: 34,599,748	N77T	probably benign	Het
Penk	A	G	4: 4,134,287	M120T	probably benign	Het
Phf7	G	A	14: 31,240,405	Q148*	probably null	Het
Pkhd1l1	G	A	15: 44,505,547	V863I	probably damaging	Het
Pkhd1l1	C	T	15: 44,589,597	R3973C	probably damaging	Het
Polq	C	T	16: 37,041,747	T264M	probably damaging	Het
Ptprb	A	T	10: 116,367,532	T2070S	probably damaging	Het
Ralgapb	T	C	2: 158,430,533	F169S	probably damaging	Het
Rapgef5	G	T	12: 117,721,349	A278S	probably benign	Het
Ripor2	G	T	13: 24,677,841	E203*	probably null	Het
Setx	T	C	2: 29,179,686	L2501P	probably benign	Het
Sh3bgrl2	C	T	9: 83,577,631		probably benign	Het
Slc35b1	T	A	11: 95,385,863	V56D	probably damaging	Het
Slc45a4	C	T	15: 73,586,747	D326N	probably benign	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stat4	T	A	1: 52,013,927	V89D	probably benign	Het
Tek	T	A	4: 94,739,706		probably benign	Het
Tert	T	A	13: 73,648,354	F1068Y	probably damaging	Het
Trim33	T	A	3: 103,310,354	I205K	probably damaging	Het
Vmn1r212	A	T	13: 22,883,392	I257K	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGATGGAATGTGATTGTCACGGG -3'
(R):5'- CCGGCAAACCTCACTTGGCTTATAC -3'

Sequencing Primer
(F):5'- AATGTGATTGTCACGGGAACTC -3'
(R):5'- AAACCTCACTTGGCTTATACTTTGG -3'

Posted On

2014-02-11