Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02532:Catip'

297333

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 #

IGL02532

Quality Score

Status

Chromosome

Chromosomal Location

74362108-74369321 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74364616 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 189 (N189S)

Ref Sequence

ENSEMBL: ENSMUSP00000117442 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097697
AA Change: N145S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095303
Gene: ENSMUSG00000073650
AA Change: N145S

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 damaging
Transcript: ENSMUST00000128445
AA Change: N189S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117442
Gene: ENSMUSG00000073650
AA Change: N189S

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

possibly damaging
Transcript: ENSMUST00000191010
AA Change: N164S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141181
Gene: ENSMUSG00000073650
AA Change: N164S

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	C	6: 96,164,790	S424R	probably damaging	Het
2200002D01Rik	T	C	7: 29,248,220	K15E	possibly damaging	Het
Abca2	A	G	2: 25,435,136	T381A	probably benign	Het
Adcy1	T	A	11: 7,144,737	N554K	probably benign	Het
Adcy5	A	G	16: 35,272,083	I605V	possibly damaging	Het
Arhgap11a	G	T	2: 113,833,676	S754*	probably null	Het
Arhgef28	T	A	13: 98,029,883	D319V	probably damaging	Het
Brca2	A	G	5: 150,550,862	D2410G	probably damaging	Het
Carmil2	T	A	8: 105,692,431		probably null	Het
Cd177	T	C	7: 24,745,249	K636E	probably benign	Het
Cep290	A	G	10: 100,545,065	T145A	probably benign	Het
Cthrc1	T	C	15: 39,077,165		probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fas	C	A	19: 34,316,599	T118N	probably damaging	Het
Fgd3	G	A	13: 49,285,761	A253V	probably damaging	Het
Fig4	A	G	10: 41,285,281		probably benign	Het
Fubp3	T	C	2: 31,600,559		probably benign	Het
Gria2	T	A	3: 80,706,999	E578V	probably damaging	Het
Gtpbp1	T	A	15: 79,720,077	V662E	probably benign	Het
Hbb-bt	T	C	7: 103,813,874		probably benign	Het
Ighv6-5	T	A	12: 114,416,804	D50V	probably benign	Het
Inpp5k	T	C	11: 75,633,184		probably benign	Het
Kalrn	T	C	16: 34,360,846	N141D	probably damaging	Het
Kbtbd8	A	G	6: 95,126,536	T389A	probably benign	Het
Klhl6	C	A	16: 19,957,082	R242L	possibly damaging	Het
Kmt2b	T	C	7: 30,586,889		probably benign	Het
Krt13	A	T	11: 100,119,369	L262Q	probably damaging	Het
Lingo2	T	C	4: 35,709,171	K270E	possibly damaging	Het
Mroh7	A	G	4: 106,720,591	S297P	probably benign	Het
Ndufs1	G	A	1: 63,170,139	R22C	probably damaging	Het
Nlrp5	T	A	7: 23,409,973	S115T	possibly damaging	Het
Pfpl	A	T	19: 12,428,845	R153S	probably damaging	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Psme1	T	A	14: 55,581,138	Y223*	probably null	Het
R3hdm1	T	C	1: 128,197,099		probably null	Het
Rnf103	A	G	6: 71,509,825	D480G	probably benign	Het
Rnf103	T	G	6: 71,509,652	S422R	probably damaging	Het
Rps6ka2	T	C	17: 7,255,966	V213A	probably damaging	Het
Sort1	G	T	3: 108,325,720	K203N	probably benign	Het
Sugp1	A	T	8: 70,059,819	K239N	possibly damaging	Het
Sult2a8	C	T	7: 14,416,258	R176K	probably benign	Het
Usp34	T	A	11: 23,370,291	N888K	probably damaging	Het
Vmn1r4	A	C	6: 56,957,150	H213P	possibly damaging	Het
Wdr45b	G	T	11: 121,328,813	T303K	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
IGL01774:Catip	APN	1	74368483	missense	probably damaging	1.00
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

Posted On

2015-04-16