Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:D430042O09Rik'

501192

Institutional Source

Beutler Lab

Gene Symbol

D430042O09Rik

Ensembl Gene

ENSMUSG00000032743

Gene Name

RIKEN cDNA D430042O09 gene

Synonyms

MMRRC Submission

043117-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125707888-125874793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125854561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1150 (V1150A)

Ref Sequence

ENSEMBL: ENSMUSP00000118668 (fasta)

Gene Model

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

AlphaFold

Q8C753

Predicted Effect

probably benign
Transcript: ENSMUST00000069660
AA Change: V1176A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: V1176A

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

probably benign
Transcript: ENSMUST00000124223
AA Change: V1150A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: V1150A

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

noncoding transcript
Transcript: ENSMUST00000205462

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adipor1	T	C	1: 134,426,040	W188R	possibly damaging	Het
Agrn	T	C	4: 156,178,497	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,383,490	S570P	probably benign	Het
Ano9	C	G	7: 141,110,482	G80R	probably damaging	Het
Arhgef2	T	A	3: 88,634,437	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,774,358	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,426,575	D40E	possibly damaging	Het
Capn12	A	G	7: 28,882,860	D133G	probably benign	Het
Ccna1	A	T	3: 55,048,569	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,741,413	Y250N	probably damaging	Het
Cep112	A	C	11: 108,437,235	K98Q	probably damaging	Het
Chst13	T	C	6: 90,318,269	D54G	probably damaging	Het
Clstn2	G	T	9: 97,469,819	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,182,435	L581M	probably damaging	Het
Cog3	T	A	14: 75,729,393	M446L	probably damaging	Het
Dennd2c	T	A	3: 103,161,555	I756K	probably damaging	Het
Dennd3	T	G	15: 73,532,895	L273R	probably damaging	Het
Dhx34	C	A	7: 16,218,541	R53L	probably benign	Het
Dnah9	G	A	11: 65,881,740	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
Dusp6	A	G	10: 99,266,241	Y217C	probably damaging	Het
Dyrk1b	G	A	7: 28,184,253	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,686,895	C1009S	probably benign	Het
Fam198a	T	C	9: 121,978,223	F478L	possibly damaging	Het
Frmpd1	A	T	4: 45,243,697	T57S	probably damaging	Het
Gjc2	A	G	11: 59,177,359	V99A	possibly damaging	Het
Gm9955	A	T	18: 24,709,092		probably benign	Het
Gpr158	A	G	2: 21,826,290	I734V	possibly damaging	Het
Herc1	A	T	9: 66,451,119	H2494L	probably benign	Het
Hist1h1c	A	G	13: 23,739,407	S187G	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmgcs1	A	G	13: 119,699,815		probably null	Het
Invs	A	T	4: 48,416,084	T655S	probably benign	Het
Ipo9	G	A	1: 135,402,245	L486F	probably damaging	Het
Kcnj6	A	T	16: 94,832,965	L96M	probably benign	Het
Lfng	A	G	5: 140,614,267	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,196,872	L139P	probably damaging	Het
Madd	C	A	2: 91,163,545	V923L	probably damaging	Het
Mfsd7a	A	T	5: 108,448,863	M1K	probably null	Het
Mical1	A	T	10: 41,478,965	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,152,816	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,195,535	K6R	probably benign	Het
Mug1	T	A	6: 121,861,073	C421S	probably damaging	Het
Myo18b	A	G	5: 112,868,295	I696T	probably damaging	Het
Naf1	T	C	8: 66,883,545	Y375H	probably damaging	Het
Nsf	T	A	11: 103,863,255	E485V	possibly damaging	Het
Nup188	A	G	2: 30,309,885	D307G	probably damaging	Het
Ocel1	C	A	8: 71,372,478	P108T	probably damaging	Het
Oip5	A	G	2: 119,613,059	S177P	probably damaging	Het
Olfr1436	G	A	19: 12,298,644	Q163*	probably null	Het
Olfr365	A	G	2: 37,201,930	I230V	probably benign	Het
Olfr51	A	C	11: 51,007,523	I184L	possibly damaging	Het
Olfr943	A	C	9: 39,184,184	E2A	probably benign	Het
Omg	A	G	11: 79,501,758	W425R	possibly damaging	Het
Pikfyve	A	G	1: 65,253,407	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,922,949	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,395,415	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,655,501	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,391,712	P91S	probably damaging	Het
Rnf10	A	G	5: 115,249,998	F367S	probably damaging	Het
Rnft1	A	T	11: 86,493,196	R307S	probably benign	Het
Ryr3	A	T	2: 112,754,877	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,846,224	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,560,286	A123E	probably damaging	Het
Setd2	T	A	9: 110,549,839	Y623*	probably null	Het
Tbl2	C	T	5: 135,157,591	Q216*	probably null	Het
Thegl	A	G	5: 77,016,486	D112G	possibly damaging	Het
Tnc	A	G	4: 64,008,709	I860T	probably damaging	Het
Trafd1	T	C	5: 121,373,303	K484R	possibly damaging	Het
Trank1	T	C	9: 111,390,567	V2124A	probably damaging	Het
Trpm4	A	T	7: 45,310,332	W713R	probably damaging	Het
Uap1l1	T	C	2: 25,362,676	T451A	probably benign	Het
Uba6	A	T	5: 86,131,260	C668S	probably damaging	Het
Ubxn11	T	C	4: 134,126,624	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,900,738	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,942	I90L	probably damaging	Het
Wdr60	T	C	12: 116,218,113	S769G	probably damaging	Het
Zfp330	T	C	8: 82,764,956	E196G	probably benign	Het
Zfp746	A	G	6: 48,082,174	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,201,713	E85G	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCTGAATACTCTGTTGTTGCC -3'
(R):5'- AGTCCAGATTTGCAGTGGGC -3'

Sequencing Primer
(F):5'- GAATACTCTGTTGTTGCCCCTTGG -3'
(R):5'- CACATGGGTGGCCTAGGTAC -3'

Posted On

2017-12-01