Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03344:2410089E03Rik'

417373

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2410089E03Rik

Ensembl Gene

ENSMUSG00000039801

Gene Name

RIKEN cDNA 2410089E03 gene

Synonyms

b2b012Clo

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03344

Quality Score

Status

Chromosome

Chromosomal Location

8169106-8271158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8187458 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 720 (P720Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110617]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110617
AA Change: P720Q

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106247
Gene: ENSMUSG00000039801
AA Change: P720Q

Domain	Start	End	E-Value	Type
low complexity region	144	157	N/A	INTRINSIC
low complexity region	338	352	N/A	INTRINSIC
low complexity region	466	476	N/A	INTRINSIC
low complexity region	868	883	N/A	INTRINSIC
low complexity region	949	962	N/A	INTRINSIC
low complexity region	1400	1415	N/A	INTRINSIC
low complexity region	1449	1464	N/A	INTRINSIC
low complexity region	1827	1838	N/A	INTRINSIC
low complexity region	1919	1930	N/A	INTRINSIC
low complexity region	2130	2145	N/A	INTRINSIC
coiled coil region	2750	2782	N/A	INTRINSIC
low complexity region	2838	2850	N/A	INTRINSIC
Pfam:Joubert	2894	3207	1.9e-136	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150869

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
PHENOTYPE: Homozygotes exhibit double outlet right ventricle {SDD}, pulmonary atresia/hypolastic pulmonary artery, atrioventricular septal defect, and right aortic arch. Non-cardiovascular defects include cleft palate, polydactyly, transparent chest wall (sternal bone hypoplasia) and hypoplastic lungs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,248,376	I26N	probably damaging	Het
AI314180	A	C	4: 58,828,538	V965G	probably damaging	Het
Armc4	C	A	18: 7,129,434	G915*	probably null	Het
Atxn7l1	A	G	12: 33,326,066	N47D	probably damaging	Het
BC003331	T	C	1: 150,363,544	E386G	probably damaging	Het
Cer1	A	T	4: 82,884,825	W87R	probably damaging	Het
Chrna2	A	G	14: 66,150,966	K477E	probably damaging	Het
Chtf8	G	A	8: 106,886,272	P12S	probably damaging	Het
Deaf1	A	T	7: 141,297,548	H555Q	probably benign	Het
Dopey1	T	G	9: 86,536,144	I1975M	probably damaging	Het
Fsd2	C	A	7: 81,559,909	V62L	probably benign	Het
Fxyd6	T	G	9: 45,392,250	L81R	probably benign	Het
Htt	T	A	5: 34,879,828	S2086T	probably benign	Het
Htt	T	A	5: 34,907,466	S3008T	probably benign	Het
Mybbp1a	G	T	11: 72,445,202	R447L	probably damaging	Het
Nup210	A	G	6: 91,021,429	V792A	possibly damaging	Het
Olfr342	T	C	2: 36,528,128	S239P	probably damaging	Het
Olfr392	T	A	11: 73,814,177	I302L	probably benign	Het
Prokr1	T	C	6: 87,588,500	D121G	possibly damaging	Het
Puf60	A	G	15: 76,070,380	V548A	possibly damaging	Het
Serpina3c	T	C	12: 104,147,264	I408V	probably benign	Het
Ska2	A	G	11: 87,109,313		probably benign	Het
Slc4a9	T	A	18: 36,535,601	Y745N	probably damaging	Het
Speer4f1	A	G	5: 17,480,334	E209G	possibly damaging	Het
Spg20	T	C	3: 55,121,685	M299T	probably benign	Het
Tmem202	T	C	9: 59,519,068	T272A	possibly damaging	Het
Vegfc	T	A	8: 54,157,151	I114N	possibly damaging	Het
Vmn1r61	T	A	7: 5,610,494	T274S	possibly damaging	Het
Zfpm2	A	G	15: 41,102,774	N753S	probably benign	Het
Zmym6	A	G	4: 127,120,521	T624A	probably damaging	Het

Other mutations in 2410089E03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00756:2410089E03Rik	APN	15	8264447	splice site	probably benign
IGL00766:2410089E03Rik	APN	15	8252164	missense	unknown
IGL01483:2410089E03Rik	APN	15	8187107	missense	probably damaging	0.98
IGL01520:2410089E03Rik	APN	15	8221911	missense	probably damaging	0.96
IGL01578:2410089E03Rik	APN	15	8270710	missense	unknown
IGL01701:2410089E03Rik	APN	15	8203257	splice site	probably benign
IGL01892:2410089E03Rik	APN	15	8242265	splice site	probably benign
IGL01895:2410089E03Rik	APN	15	8229107	missense	possibly damaging	0.63
IGL01922:2410089E03Rik	APN	15	8270821	missense	unknown
IGL01978:2410089E03Rik	APN	15	8219382	missense	probably damaging	0.98
IGL02031:2410089E03Rik	APN	15	8179769	missense	probably damaging	0.99
IGL02318:2410089E03Rik	APN	15	8175025	missense	probably damaging	0.98
IGL02321:2410089E03Rik	APN	15	8216572	missense	probably benign	0.04
IGL02363:2410089E03Rik	APN	15	8218437	missense	possibly damaging	0.68
IGL02404:2410089E03Rik	APN	15	8187284	missense	possibly damaging	0.48
IGL02535:2410089E03Rik	APN	15	8174838	missense	probably damaging	1.00
IGL02732:2410089E03Rik	APN	15	8179891	missense	probably benign	0.03
IGL02895:2410089E03Rik	APN	15	8232107	splice site	probably benign
IGL02903:2410089E03Rik	APN	15	8269778	missense	unknown
IGL02903:2410089E03Rik	APN	15	8269779	missense	unknown
IGL02979:2410089E03Rik	APN	15	8218554	missense	possibly damaging	0.82
IGL03077:2410089E03Rik	APN	15	8212795	splice site	probably benign
IGL03196:2410089E03Rik	APN	15	8201342	missense	probably damaging	0.98
IGL03368:2410089E03Rik	APN	15	8222373	missense	probably benign	0.06
IGL03403:2410089E03Rik	APN	15	8201342	missense	probably damaging	0.98
agnes	UTSW	15	8246938	nonsense	probably null
dei	UTSW	15	8186165	missense	probably damaging	1.00
R0015:2410089E03Rik	UTSW	15	8186184	missense	probably damaging	1.00
R0015:2410089E03Rik	UTSW	15	8186184	missense	probably damaging	1.00
R0101:2410089E03Rik	UTSW	15	8220960	missense	probably benign	0.00
R0105:2410089E03Rik	UTSW	15	8187392	missense	probably benign
R0105:2410089E03Rik	UTSW	15	8187392	missense	probably benign
R0165:2410089E03Rik	UTSW	15	8216382	missense	probably damaging	1.00
R0306:2410089E03Rik	UTSW	15	8179889	missense	probably damaging	1.00
R0433:2410089E03Rik	UTSW	15	8216562	missense	probably benign	0.00
R0491:2410089E03Rik	UTSW	15	8182243	missense	probably damaging	1.00
R0523:2410089E03Rik	UTSW	15	8194386	missense	probably damaging	1.00
R0571:2410089E03Rik	UTSW	15	8259793	missense	unknown
R0679:2410089E03Rik	UTSW	15	8223122	missense	probably benign	0.39
R0704:2410089E03Rik	UTSW	15	8210083	missense	possibly damaging	0.93
R0707:2410089E03Rik	UTSW	15	8258321	missense	unknown
R0715:2410089E03Rik	UTSW	15	8223092	missense	probably benign	0.14
R0762:2410089E03Rik	UTSW	15	8218416	unclassified	probably benign
R0830:2410089E03Rik	UTSW	15	8247185	missense	unknown
R0924:2410089E03Rik	UTSW	15	8251070	splice site	probably benign
R1071:2410089E03Rik	UTSW	15	8218426	missense	probably benign	0.20
R1184:2410089E03Rik	UTSW	15	8216487	missense	probably benign
R1224:2410089E03Rik	UTSW	15	8178385	missense	probably benign	0.06
R1416:2410089E03Rik	UTSW	15	8246938	nonsense	probably null
R1428:2410089E03Rik	UTSW	15	8219369	missense	possibly damaging	0.83
R1487:2410089E03Rik	UTSW	15	8186231	missense	probably damaging	1.00
R1641:2410089E03Rik	UTSW	15	8228959	missense	probably benign	0.41
R1652:2410089E03Rik	UTSW	15	8201146	missense	probably damaging	1.00
R1688:2410089E03Rik	UTSW	15	8228609	missense	probably benign	0.00
R1715:2410089E03Rik	UTSW	15	8226900	splice site	probably null
R1820:2410089E03Rik	UTSW	15	8269645	missense	unknown
R1863:2410089E03Rik	UTSW	15	8228593	missense	probably benign	0.00
R1940:2410089E03Rik	UTSW	15	8233852	missense	probably damaging	0.98
R1967:2410089E03Rik	UTSW	15	8203420	missense	probably benign	0.09
R2064:2410089E03Rik	UTSW	15	8186165	missense	probably damaging	1.00
R2076:2410089E03Rik	UTSW	15	8219257	missense	possibly damaging	0.93
R2163:2410089E03Rik	UTSW	15	8203251	splice site	probably null
R2208:2410089E03Rik	UTSW	15	8194403	missense	probably benign	0.33
R2504:2410089E03Rik	UTSW	15	8219216	missense	probably damaging	0.99
R2568:2410089E03Rik	UTSW	15	8201269	missense	possibly damaging	0.70
R2845:2410089E03Rik	UTSW	15	8216380	missense	probably damaging	1.00
R2913:2410089E03Rik	UTSW	15	8270685	missense	unknown
R3056:2410089E03Rik	UTSW	15	8251007	missense	unknown
R3706:2410089E03Rik	UTSW	15	8259816	missense	unknown
R3707:2410089E03Rik	UTSW	15	8259816	missense	unknown
R3870:2410089E03Rik	UTSW	15	8218464	missense	probably damaging	0.98
R3877:2410089E03Rik	UTSW	15	8221943	missense	probably benign
R3886:2410089E03Rik	UTSW	15	8171805	missense	probably damaging	0.98
R4057:2410089E03Rik	UTSW	15	8219025	missense	probably benign	0.08
R4090:2410089E03Rik	UTSW	15	8212358	splice site	probably null
R4362:2410089E03Rik	UTSW	15	8270745	missense	unknown
R4363:2410089E03Rik	UTSW	15	8270745	missense	unknown
R4445:2410089E03Rik	UTSW	15	8252188	missense	unknown
R4581:2410089E03Rik	UTSW	15	8171798	missense	possibly damaging	0.85
R4587:2410089E03Rik	UTSW	15	8201152	missense	possibly damaging	0.50
R4659:2410089E03Rik	UTSW	15	8216276	intron	probably benign
R4663:2410089E03Rik	UTSW	15	8218455	missense	probably benign	0.31
R4779:2410089E03Rik	UTSW	15	8218838	missense	probably benign	0.04
R4812:2410089E03Rik	UTSW	15	8201123	splice site	probably null
R4850:2410089E03Rik	UTSW	15	8262938	missense	unknown
R4896:2410089E03Rik	UTSW	15	8221937	missense	probably benign	0.00
R5273:2410089E03Rik	UTSW	15	8244341	missense	probably damaging	0.98
R5273:2410089E03Rik	UTSW	15	8262938	missense	unknown
R5303:2410089E03Rik	UTSW	15	8260690	splice site	probably null
R5307:2410089E03Rik	UTSW	15	8260690	splice site	probably null
R5308:2410089E03Rik	UTSW	15	8260690	splice site	probably null
R5373:2410089E03Rik	UTSW	15	8270803	missense	unknown
R5374:2410089E03Rik	UTSW	15	8270803	missense	unknown
R5386:2410089E03Rik	UTSW	15	8194413	missense	probably damaging	1.00
R5534:2410089E03Rik	UTSW	15	8228835	missense	probably benign	0.06
R5720:2410089E03Rik	UTSW	15	8203687	missense	probably benign	0.35
R5891:2410089E03Rik	UTSW	15	8188589	missense	probably benign	0.00
R5932:2410089E03Rik	UTSW	15	8244595	splice site	probably null
R6053:2410089E03Rik	UTSW	15	8188461	missense	probably benign	0.35
R6166:2410089E03Rik	UTSW	15	8186560	missense	probably benign	0.00
R6245:2410089E03Rik	UTSW	15	8178418	missense	probably benign	0.01
R6246:2410089E03Rik	UTSW	15	8210014	missense	probably damaging	1.00
R6541:2410089E03Rik	UTSW	15	8219295	missense	possibly damaging	0.48
R6622:2410089E03Rik	UTSW	15	8244222	missense	probably damaging	0.98
R6707:2410089E03Rik	UTSW	15	8223122	missense	probably benign	0.39
R6729:2410089E03Rik	UTSW	15	8188601	splice site	probably null
R6805:2410089E03Rik	UTSW	15	8244306	missense	probably benign	0.07
R6806:2410089E03Rik	UTSW	15	8186858	missense	possibly damaging	0.55
R6813:2410089E03Rik	UTSW	15	8229282	missense	probably benign
R6830:2410089E03Rik	UTSW	15	8176184	missense	probably benign	0.04
R6845:2410089E03Rik	UTSW	15	8221904	missense	possibly damaging	0.84
R6894:2410089E03Rik	UTSW	15	8187368	missense	probably damaging	0.99
R6970:2410089E03Rik	UTSW	15	8187548	missense	probably benign	0.01
R6991:2410089E03Rik	UTSW	15	8252206	missense	unknown
R7003:2410089E03Rik	UTSW	15	8228762	missense	probably damaging	0.99
R7088:2410089E03Rik	UTSW	15	8218947	missense	probably benign	0.16
R7104:2410089E03Rik	UTSW	15	8194444	missense	possibly damaging	0.83
R7311:2410089E03Rik	UTSW	15	8180915	missense	probably damaging	1.00
R7374:2410089E03Rik	UTSW	15	8247247	missense	unknown
R7446:2410089E03Rik	UTSW	15	8232080	missense	probably damaging	0.98
R7539:2410089E03Rik	UTSW	15	8201244	missense	probably benign	0.19
R7543:2410089E03Rik	UTSW	15	8225392	missense	unknown
R7558:2410089E03Rik	UTSW	15	8225367	missense	unknown
R7629:2410089E03Rik	UTSW	15	8227067	nonsense	probably null
R7635:2410089E03Rik	UTSW	15	8226920	missense	probably benign	0.01
R7644:2410089E03Rik	UTSW	15	8223127	missense	probably benign	0.00
R7705:2410089E03Rik	UTSW	15	8182252	missense	probably damaging	1.00
R7752:2410089E03Rik	UTSW	15	8269706	missense	unknown
R7754:2410089E03Rik	UTSW	15	8243826	missense	possibly damaging	0.53
R7757:2410089E03Rik	UTSW	15	8252227	missense	unknown
R7836:2410089E03Rik	UTSW	15	8203757	missense	probably damaging	0.97
R7875:2410089E03Rik	UTSW	15	8209962	missense	probably benign	0.18
R7901:2410089E03Rik	UTSW	15	8269706	missense	unknown
R7919:2410089E03Rik	UTSW	15	8203757	missense	probably damaging	0.97
R7958:2410089E03Rik	UTSW	15	8209962	missense	probably benign	0.18
R7984:2410089E03Rik	UTSW	15	8269706	missense	unknown
R8030:2410089E03Rik	UTSW	15	8230303	missense	probably damaging	1.00
U24488:2410089E03Rik	UTSW	15	8182210	missense	probably damaging	1.00
X0023:2410089E03Rik	UTSW	15	8247031	missense	unknown
Z1177:2410089E03Rik	UTSW	15	8174972	missense	probably damaging	1.00
Z1177:2410089E03Rik	UTSW	15	8209989	missense	probably damaging	0.98

Posted On

2016-08-02