Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01774:Catip'

154045

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Catip

Ensembl Gene

ENSMUSG00000073650

Gene Name

ciliogenesis associated TTC17 interacting protein

Synonyms

Gm216, LOC241112

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

74362108-74369321 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74368483 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 325 (R325S)

Ref Sequence

ENSEMBL: ENSMUSP00000141181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097697] [ENSMUST00000128445] [ENSMUST00000191010]

Predicted Effect

probably damaging
Transcript: ENSMUST00000097697
AA Change: R306S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095303
Gene: ENSMUSG00000073650
AA Change: R306S

Domain	Start	End	E-Value	Type
low complexity region	67	83	N/A	INTRINSIC
low complexity region	299	307	N/A	INTRINSIC
coiled coil region	341	383	N/A	INTRINSIC
low complexity region	473	499	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128445

SMART Domains

Protein: ENSMUSP00000117442
Gene: ENSMUSG00000073650

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
low complexity region	111	127	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186688

Predicted Effect

probably damaging
Transcript: ENSMUST00000191010
AA Change: R325S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141181
Gene: ENSMUSG00000073650
AA Change: R325S

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
low complexity region	318	326	N/A	INTRINSIC
coiled coil region	360	402	N/A	INTRINSIC
low complexity region	492	518	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,477,835	D708G	probably damaging	Het
Abca16	T	C	7: 120,421,801		probably benign	Het
Abcc5	T	C	16: 20,378,457	D674G	probably damaging	Het
Abr	A	G	11: 76,464,299		probably benign	Het
Arfgef3	A	G	10: 18,743,615	I4T	possibly damaging	Het
Btla	A	G	16: 45,250,548	N290S	possibly damaging	Het
Cep120	A	G	18: 53,706,830	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,115,307	I221V	probably benign	Het
Eloc	A	T	1: 16,645,789	D37E	probably benign	Het
Fabp12	A	C	3: 10,247,694	N89K	probably benign	Het
Ficd	G	T	5: 113,739,012	R416L	probably damaging	Het
Frmd3	T	C	4: 74,187,838	Y574H	probably damaging	Het
Frmd4a	T	C	2: 4,535,236		probably benign	Het
Gatc	G	A	5: 115,341,017	Q45*	probably null	Het
Gm5414	T	C	15: 101,626,975	D225G	probably benign	Het
Itpkc	G	T	7: 27,212,370	A592E	probably benign	Het
Kl	G	T	5: 150,988,483	V566L	probably benign	Het
Lpin1	T	A	12: 16,558,476	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,385,885	Y483C	probably damaging	Het
Neb	C	T	2: 52,222,970	W67*	probably null	Het
Nrarp	T	C	2: 25,181,286	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,506,072	T345M	probably benign	Het
Olfr659	T	C	7: 104,670,942	I80T	probably benign	Het
Pacs2	T	A	12: 113,056,842	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,277	K420R	probably benign	Het
Rag2	A	G	2: 101,630,047	Y234C	probably damaging	Het
Ralgds	C	T	2: 28,550,542	Q88*	probably null	Het
Rictor	T	C	15: 6,769,777	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,925,613	Q276*	probably null	Het
Tas2r134	C	T	2: 51,628,148	T213I	probably benign	Het
Tecpr1	A	G	5: 144,211,540	I349T	probably damaging	Het
Tnxb	T	C	17: 34,688,839	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,375,050	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,583,627	I229L	probably benign	Het
Vnn1	T	C	10: 23,900,710	Y320H	probably benign	Het
Zfp990	T	C	4: 145,536,948	V172A	probably benign	Het

Other mutations in Catip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Catip	APN	1	74362795	missense	probably damaging	1.00
IGL02532:Catip	APN	1	74364616	missense	probably damaging	0.97
IGL03117:Catip	APN	1	74364585	missense	probably null	0.02
R0165:Catip	UTSW	1	74368469	missense	possibly damaging	0.93
R0760:Catip	UTSW	1	74362959	splice site	probably benign
R1384:Catip	UTSW	1	74364363	missense	probably benign	0.04
R1538:Catip	UTSW	1	74364652	nonsense	probably null
R1710:Catip	UTSW	1	74362770	missense	possibly damaging	0.93
R2255:Catip	UTSW	1	74369000	unclassified	probably benign
R2323:Catip	UTSW	1	74363278	missense	probably benign	0.03
R4429:Catip	UTSW	1	74368732	unclassified	probably benign
R4630:Catip	UTSW	1	74368913	unclassified	probably benign
R5249:Catip	UTSW	1	74362795	missense	probably damaging	1.00
R6057:Catip	UTSW	1	74362918	missense	probably damaging	1.00
R7176:Catip	UTSW	1	74362782	missense	probably damaging	1.00
R7495:Catip	UTSW	1	74362692	missense	probably benign	0.01
R7568:Catip	UTSW	1	74368930	nonsense	probably null
R7635:Catip	UTSW	1	74368962	missense	unknown
R8084:Catip	UTSW	1	74364356	missense	probably damaging	0.97
Z1176:Catip	UTSW	1	74367789	missense	probably damaging	1.00

Posted On

2014-02-04