Mutagenetix > Incidental Mutation

Incidental Mutation 'R2445:2700049A03Rik'

250555

Institutional Source

Beutler Lab

Gene Symbol

2700049A03Rik

Ensembl Gene

ENSMUSG00000034601

Gene Name

RIKEN cDNA 2700049A03 gene

Synonyms

talpid3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71136848-71243303 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 71164546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 685 (E685*)

Ref Sequence

ENSEMBL: ENSMUSP00000118956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045907] [ENSMUST00000149564]

AlphaFold

E9PV87

Predicted Effect

probably null
Transcript: ENSMUST00000045907
AA Change: E685*

SMART Domains

Protein: ENSMUSP00000044701
Gene: ENSMUSG00000034601
AA Change: E685*

Domain	Start	End	E-Value	Type
Pfam:TALPID3	116	1351	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000149564
AA Change: E685*

SMART Domains

Protein: ENSMUSP00000118956
Gene: ENSMUSG00000034601
AA Change: E685*

Domain	Start	End	E-Value	Type
Pfam:TALPID3	116	1349	N/A	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele die during organogenesis, lack cilia, and show randomized L-R patterning, face and neural tube defects, pericardial edema and hemorrhages. Mouse embryonic fibroblasts homozygous for a different null allele lack cilia and asymmetrical centriolar localization. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Targeted, other(2) Gene trapped(10)

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,864,397 (GRCm38)		probably null	Het
Akr1b3	G	T	6: 34,310,934 (GRCm38)	D163E	probably benign	Het
D130043K22Rik	A	G	13: 24,857,036 (GRCm38)	D147G	probably benign	Het
F5	T	C	1: 164,190,226 (GRCm38)	F624S	probably damaging	Het
Gpr182	T	C	10: 127,750,627 (GRCm38)	T152A	probably benign	Het
Ifna13	A	T	4: 88,643,896 (GRCm38)	W164R	probably damaging	Het
Lsg1	C	A	16: 30,564,695 (GRCm38)	R569L	probably benign	Het
Mmp27	T	C	9: 7,581,181 (GRCm38)	S456P	probably benign	Het
Naip6	A	G	13: 100,300,668 (GRCm38)	V449A	probably damaging	Het
Obscn	T	C	11: 59,131,646 (GRCm38)	R758G	possibly damaging	Het
Olfr1130	T	C	2: 87,607,958 (GRCm38)	I190T	probably damaging	Het
Ptpn23	G	T	9: 110,387,632 (GRCm38)	P1052Q	possibly damaging	Het
Sacs	A	G	14: 61,205,206 (GRCm38)	H1567R	probably damaging	Het
Slc30a7	A	T	3: 115,978,653 (GRCm38)	I280K	probably damaging	Het
Slc6a18	A	T	13: 73,666,752 (GRCm38)	C15*	probably null	Het
Tnrc18	T	A	5: 142,772,115 (GRCm38)	I884F	unknown	Het
Trav6d-3	G	A	14: 52,726,828 (GRCm38)	A83T	probably damaging	Het
Zgpat	C	A	2: 181,366,160 (GRCm38)	C163*	probably null	Het

Other mutations in 2700049A03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:2700049A03Rik	APN	12	71,167,119 (GRCm38)	missense	probably benign	0.00
IGL01107:2700049A03Rik	APN	12	71,194,468 (GRCm38)	critical splice donor site	probably null
IGL01404:2700049A03Rik	APN	12	71,164,378 (GRCm38)	splice site	probably null
IGL01835:2700049A03Rik	APN	12	71,167,183 (GRCm38)	missense	probably benign	0.00
IGL01835:2700049A03Rik	APN	12	71,167,181 (GRCm38)	nonsense	probably null
IGL02122:2700049A03Rik	APN	12	71,170,525 (GRCm38)	missense	possibly damaging	0.93
IGL02140:2700049A03Rik	APN	12	71,148,260 (GRCm38)	missense	probably benign	0.06
IGL02385:2700049A03Rik	APN	12	71,154,856 (GRCm38)	missense	probably damaging	0.98
IGL03181:2700049A03Rik	APN	12	71,193,373 (GRCm38)	missense	possibly damaging	0.51
IGL03253:2700049A03Rik	APN	12	71,140,883 (GRCm38)	missense	probably benign	0.33
IGL03278:2700049A03Rik	APN	12	71,158,825 (GRCm38)	splice site	probably benign
G4846:2700049A03Rik	UTSW	12	71,137,909 (GRCm38)	missense	probably benign
PIT1430001:2700049A03Rik	UTSW	12	71,160,386 (GRCm38)	missense	possibly damaging	0.71
PIT4519001:2700049A03Rik	UTSW	12	71,170,666 (GRCm38)	missense	probably benign	0.05
R0108:2700049A03Rik	UTSW	12	71,177,918 (GRCm38)	missense	probably benign	0.14
R0165:2700049A03Rik	UTSW	12	71,167,150 (GRCm38)	missense	possibly damaging	0.52
R0211:2700049A03Rik	UTSW	12	71,216,096 (GRCm38)	missense	possibly damaging	0.96
R0211:2700049A03Rik	UTSW	12	71,216,096 (GRCm38)	missense	possibly damaging	0.96
R0220:2700049A03Rik	UTSW	12	71,148,420 (GRCm38)	critical splice donor site	probably null
R0352:2700049A03Rik	UTSW	12	71,138,030 (GRCm38)	missense	possibly damaging	0.96
R0468:2700049A03Rik	UTSW	12	71,193,310 (GRCm38)	missense	possibly damaging	0.71
R0508:2700049A03Rik	UTSW	12	71,164,388 (GRCm38)	missense	probably damaging	0.98
R0673:2700049A03Rik	UTSW	12	71,177,868 (GRCm38)	missense	probably damaging	0.97
R0840:2700049A03Rik	UTSW	12	71,158,883 (GRCm38)	missense	probably benign	0.16
R0893:2700049A03Rik	UTSW	12	71,219,308 (GRCm38)	splice site	probably benign
R1244:2700049A03Rik	UTSW	12	71,216,144 (GRCm38)	missense	probably benign	0.25
R1432:2700049A03Rik	UTSW	12	71,170,587 (GRCm38)	splice site	probably null
R1599:2700049A03Rik	UTSW	12	71,150,259 (GRCm38)	missense	probably damaging	0.98
R1732:2700049A03Rik	UTSW	12	71,219,221 (GRCm38)	missense	probably benign	0.18
R1820:2700049A03Rik	UTSW	12	71,150,244 (GRCm38)	missense	possibly damaging	0.51
R1939:2700049A03Rik	UTSW	12	71,160,412 (GRCm38)	splice site	probably null
R1998:2700049A03Rik	UTSW	12	71,188,619 (GRCm38)	missense	possibly damaging	0.86
R2337:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2337:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2340:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2340:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2382:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2382:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2384:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2384:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2445:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2449:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2449:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2512:2700049A03Rik	UTSW	12	71,173,171 (GRCm38)	missense	possibly damaging	0.71
R2872:2700049A03Rik	UTSW	12	71,154,756 (GRCm38)	splice site	probably benign
R3236:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3236:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3237:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3237:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3734:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3734:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3808:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3808:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3809:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3809:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3944:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3944:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3959:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3959:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3960:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3960:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4593:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4593:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4595:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4595:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4596:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4596:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4600:2700049A03Rik	UTSW	12	71,148,263 (GRCm38)	missense	possibly damaging	0.67
R4649:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4649:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4651:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4651:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4652:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4652:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4714:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4714:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4735:2700049A03Rik	UTSW	12	71,216,123 (GRCm38)	missense	possibly damaging	0.88
R4810:2700049A03Rik	UTSW	12	71,189,442 (GRCm38)	missense	possibly damaging	0.51
R4852:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4852:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4854:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4854:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4855:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4855:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4884:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4884:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4893:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4893:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4905:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4905:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4915:2700049A03Rik	UTSW	12	71,189,646 (GRCm38)	missense	possibly damaging	0.92
R4919:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4919:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4959:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4959:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4989:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4989:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5011:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5011:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5012:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5012:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5118:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5118:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5146:2700049A03Rik	UTSW	12	71,243,025 (GRCm38)	missense	possibly damaging	0.85
R5163:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5163:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5188:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5188:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5189:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5189:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5189:2700049A03Rik	UTSW	12	71,193,349 (GRCm38)	missense	possibly damaging	0.93
R5190:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5190:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5290:2700049A03Rik	UTSW	12	71,188,791 (GRCm38)	missense	probably benign	0.00
R5344:2700049A03Rik	UTSW	12	71,243,027 (GRCm38)	missense	probably benign
R5502:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5502:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5503:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5503:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5619:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5619:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5667:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5667:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5669:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5669:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5671:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5671:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5725:2700049A03Rik	UTSW	12	71,193,319 (GRCm38)	missense	probably benign	0.05
R5956:2700049A03Rik	UTSW	12	71,157,119 (GRCm38)	missense	possibly damaging	0.86
R6051:2700049A03Rik	UTSW	12	71,184,530 (GRCm38)	missense	possibly damaging	0.84
R6148:2700049A03Rik	UTSW	12	71,187,426 (GRCm38)	missense	possibly damaging	0.71
R6158:2700049A03Rik	UTSW	12	71,170,636 (GRCm38)	missense	possibly damaging	0.51
R6916:2700049A03Rik	UTSW	12	71,164,544 (GRCm38)	missense	possibly damaging	0.86
R7129:2700049A03Rik	UTSW	12	71,216,230 (GRCm38)	splice site	probably null
R7168:2700049A03Rik	UTSW	12	71,216,057 (GRCm38)	missense	probably damaging	0.98
R7193:2700049A03Rik	UTSW	12	71,219,189 (GRCm38)	critical splice acceptor site	probably null
R7200:2700049A03Rik	UTSW	12	71,140,906 (GRCm38)	missense	probably damaging	0.96
R7359:2700049A03Rik	UTSW	12	71,189,574 (GRCm38)	missense	possibly damaging	0.51
R7488:2700049A03Rik	UTSW	12	71,150,405 (GRCm38)	missense	possibly damaging	0.67
R7755:2700049A03Rik	UTSW	12	71,189,413 (GRCm38)	missense	probably benign	0.02
R7757:2700049A03Rik	UTSW	12	71,189,413 (GRCm38)	missense	probably benign	0.02
R7922:2700049A03Rik	UTSW	12	71,164,406 (GRCm38)	missense	possibly damaging	0.83
R7966:2700049A03Rik	UTSW	12	71,173,129 (GRCm38)	missense	probably benign	0.00
R8082:2700049A03Rik	UTSW	12	71,142,121 (GRCm38)	critical splice donor site	probably null
R8311:2700049A03Rik	UTSW	12	71,138,041 (GRCm38)	unclassified	probably benign
R8408:2700049A03Rik	UTSW	12	71,189,582 (GRCm38)	missense	possibly damaging	0.71
R8852:2700049A03Rik	UTSW	12	71,184,423 (GRCm38)	missense	possibly damaging	0.93
R8860:2700049A03Rik	UTSW	12	71,184,423 (GRCm38)	missense	possibly damaging	0.93
R9039:2700049A03Rik	UTSW	12	71,167,075 (GRCm38)	missense	possibly damaging	0.51
R9281:2700049A03Rik	UTSW	12	71,158,913 (GRCm38)	missense	possibly damaging	0.51
R9308:2700049A03Rik	UTSW	12	71,184,459 (GRCm38)	missense	probably benign	0.23
R9385:2700049A03Rik	UTSW	12	71,161,192 (GRCm38)	missense	possibly damaging	0.52
R9412:2700049A03Rik	UTSW	12	71,188,683 (GRCm38)	missense	possibly damaging	0.71
R9643:2700049A03Rik	UTSW	12	71,164,415 (GRCm38)	missense	possibly damaging	0.92
R9676:2700049A03Rik	UTSW	12	71,161,131 (GRCm38)	missense	possibly damaging	0.86
R9776:2700049A03Rik	UTSW	12	71,188,674 (GRCm38)	missense	possibly damaging	0.71
R9789:2700049A03Rik	UTSW	12	71,184,583 (GRCm38)	missense	probably benign
Z1177:2700049A03Rik	UTSW	12	71,164,484 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGACCTTTTATGTTTCCTAGGTGG -3'
(R):5'- CACTGTTCCCTGGCAGATAAC -3'

Sequencing Primer
(F):5'- AACATGTTTTGCATTGGTAGGGCC -3'
(R):5'- TAACGGTACTGAAGCTCTGC -3'

Posted On

2014-11-12