Mutagenetix > Incidental Mutation

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

LOC241112, Gm216

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02532

Quality Score

Status

Chromosome

Chromosomal Location

74401272-74408482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74403775 bp (GRCm39)

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]

AlphaFold

B9EKE5

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
2200002D01Rik	T	C	7: 28,947,645 (GRCm39)	K15E	possibly damaging	Het
Abca2	A	G	2: 25,325,148 (GRCm39)	T381A	probably benign	Het
Adcy1	T	A	11: 7,094,737 (GRCm39)	N554K	probably benign	Het
Adcy5	A	G	16: 35,092,453 (GRCm39)	I605V	possibly damaging	Het
Arhgap11a	G	T	2: 113,664,021 (GRCm39)	S754*	probably null	Het
Arhgef28	T	A	13: 98,166,391 (GRCm39)	D319V	probably damaging	Het
Brca2	A	G	5: 150,474,327 (GRCm39)	D2410G	probably damaging	Het
Carmil2	T	A	8: 106,419,063 (GRCm39)		probably null	Het
Cd177	T	C	7: 24,444,674 (GRCm39)	K636E	probably benign	Het
Cep290	A	G	10: 100,380,927 (GRCm39)	T145A	probably benign	Het
Cthrc1	T	C	15: 38,940,560 (GRCm39)		probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fas	C	A	19: 34,293,999 (GRCm39)	T118N	probably damaging	Het
Fgd3	G	A	13: 49,439,237 (GRCm39)	A253V	probably damaging	Het
Fig4	A	G	10: 41,161,277 (GRCm39)		probably benign	Het
Fubp3	T	C	2: 31,490,571 (GRCm39)		probably benign	Het
Gria2	T	A	3: 80,614,306 (GRCm39)	E578V	probably damaging	Het
Gtpbp1	T	A	15: 79,604,278 (GRCm39)	V662E	probably benign	Het
Hbb-bt	T	C	7: 103,463,081 (GRCm39)		probably benign	Het
Ighv6-5	T	A	12: 114,380,424 (GRCm39)	D50V	probably benign	Het
Inpp5k	T	C	11: 75,524,010 (GRCm39)		probably benign	Het
Kalrn	T	C	16: 34,181,216 (GRCm39)	N141D	probably damaging	Het
Kbtbd8	A	G	6: 95,103,517 (GRCm39)	T389A	probably benign	Het
Klhl6	C	A	16: 19,775,832 (GRCm39)	R242L	possibly damaging	Het
Kmt2b	T	C	7: 30,286,314 (GRCm39)		probably benign	Het
Krt13	A	T	11: 100,010,195 (GRCm39)	L262Q	probably damaging	Het
Lingo2	T	C	4: 35,709,171 (GRCm39)	K270E	possibly damaging	Het
Mroh7	A	G	4: 106,577,788 (GRCm39)	S297P	probably benign	Het
Ndufs1	G	A	1: 63,209,298 (GRCm39)	R22C	probably damaging	Het
Nlrp5	T	A	7: 23,109,398 (GRCm39)	S115T	possibly damaging	Het
Nup50l	A	C	6: 96,141,771 (GRCm39)	S424R	probably damaging	Het
Pfpl	A	T	19: 12,406,209 (GRCm39)	R153S	probably damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Psme1	T	A	14: 55,818,595 (GRCm39)	Y223*	probably null	Het
R3hdm1	T	C	1: 128,124,836 (GRCm39)		probably null	Het
Rnf103	A	G	6: 71,486,809 (GRCm39)	D480G	probably benign	Het
Rnf103	T	G	6: 71,486,636 (GRCm39)	S422R	probably damaging	Het
Rps6ka2	T	C	17: 7,523,365 (GRCm39)	V213A	probably damaging	Het
Sort1	G	T	3: 108,233,036 (GRCm39)	K203N	probably benign	Het
Sugp1	A	T	8: 70,512,469 (GRCm39)	K239N	possibly damaging	Het
Sult2a8	C	T	7: 14,150,183 (GRCm39)	R176K	probably benign	Het
Usp34	T	A	11: 23,320,291 (GRCm39)	N888K	probably damaging	Het
Vmn1r4	A	C	6: 56,934,135 (GRCm39)	H213P	possibly damaging	Het
Wdr45b	G	T	11: 121,219,639 (GRCm39)	T303K	probably benign	Het

Other mutations in Catip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Catip	APN	1	74,401,954 (GRCm39)	missense	probably damaging	1.00
IGL01774:Catip	APN	1	74,407,642 (GRCm39)	missense	probably damaging	1.00
IGL03117:Catip	APN	1	74,403,744 (GRCm39)	missense	probably null	0.02
R0165:Catip	UTSW	1	74,407,628 (GRCm39)	missense	possibly damaging	0.93
R0760:Catip	UTSW	1	74,402,118 (GRCm39)	splice site	probably benign
R1384:Catip	UTSW	1	74,403,522 (GRCm39)	missense	probably benign	0.04
R1538:Catip	UTSW	1	74,403,811 (GRCm39)	nonsense	probably null
R1710:Catip	UTSW	1	74,401,929 (GRCm39)	missense	possibly damaging	0.93
R2255:Catip	UTSW	1	74,408,159 (GRCm39)	unclassified	probably benign
R2323:Catip	UTSW	1	74,402,437 (GRCm39)	missense	probably benign	0.03
R4429:Catip	UTSW	1	74,407,891 (GRCm39)	unclassified	probably benign
R4630:Catip	UTSW	1	74,408,072 (GRCm39)	unclassified	probably benign
R5249:Catip	UTSW	1	74,401,954 (GRCm39)	missense	probably damaging	1.00
R6057:Catip	UTSW	1	74,402,077 (GRCm39)	missense	probably damaging	1.00
R7176:Catip	UTSW	1	74,401,941 (GRCm39)	missense	probably damaging	1.00
R7495:Catip	UTSW	1	74,401,851 (GRCm39)	missense	probably benign	0.01
R7568:Catip	UTSW	1	74,408,089 (GRCm39)	nonsense	probably null
R7635:Catip	UTSW	1	74,408,121 (GRCm39)	missense	unknown
R8084:Catip	UTSW	1	74,403,515 (GRCm39)	missense	probably damaging	0.97
R9104:Catip	UTSW	1	74,401,682 (GRCm39)	critical splice donor site	probably null
R9527:Catip	UTSW	1	74,401,637 (GRCm39)	missense	probably benign	0.00
R9723:Catip	UTSW	1	74,403,745 (GRCm39)	missense	probably benign	0.02
Z1176:Catip	UTSW	1	74,406,948 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16