Mutagenetix > Incidental Mutation

Incidental Mutation 'R1384:Catip'

163143

Institutional Source

Beutler Lab

Gene Symbol

Catip

Ensembl Gene

ENSMUSG00000073650

Gene Name

ciliogenesis associated TTC17 interacting protein

Synonyms

LOC241112, Gm216

MMRRC Submission

039446-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74401272-74408482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74403522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 153 (D153G)

Ref Sequence

ENSEMBL: ENSMUSP00000117442 (fasta)

Gene Model

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

AlphaFold

B9EKE5

Predicted Effect

probably benign
Transcript: ENSMUST00000097697
AA Change: D109G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000095303
Gene: ENSMUSG00000073650
AA Change: D109G

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
AA Change: D153G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117442
Gene: ENSMUSG00000073650
AA Change: D153G

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 benign
Transcript: ENSMUST00000191010
AA Change: D128G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141181
Gene: ENSMUSG00000073650
AA Change: D128G

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

Meta Mutation Damage Score

0.0948

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930408O17Rik	G	A	12: 104,837,451 (GRCm39)		noncoding transcript	Het
A930033H14Rik	A	G	10: 69,048,191 (GRCm39)		probably benign	Het
Abcf3	G	A	16: 20,378,053 (GRCm39)	G522R	probably damaging	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Alg10b	A	G	15: 90,111,785 (GRCm39)	K210E	possibly damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
C9	G	A	15: 6,488,415 (GRCm39)	V90I	probably benign	Het
Cacna1s	A	G	1: 136,022,709 (GRCm39)	I634V	probably benign	Het
Cpt1c	G	A	7: 44,610,348 (GRCm39)		probably benign	Het
Cyp2c23	A	G	19: 44,002,102 (GRCm39)	S296P	probably damaging	Het
Cyp2d41-ps	G	A	15: 82,663,718 (GRCm39)		noncoding transcript	Het
Edc4	T	A	8: 106,619,014 (GRCm39)	I1327N	probably damaging	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Filip1l	A	G	16: 57,391,652 (GRCm39)	K509E	possibly damaging	Het
Golga4	A	G	9: 118,394,719 (GRCm39)	E96G	probably damaging	Het
Grid2ip	T	G	5: 143,371,851 (GRCm39)		probably null	Het
Gucy1a2	A	C	9: 3,759,620 (GRCm39)	E475D	probably damaging	Het
Hipk1	A	G	3: 103,666,090 (GRCm39)		probably benign	Het
Ica1	G	A	6: 8,742,262 (GRCm39)	Q124*	probably null	Het
Igsf3	T	C	3: 101,358,612 (GRCm39)		probably null	Het
Matn2	A	G	15: 34,409,956 (GRCm39)	E462G	probably benign	Het
Men1	T	C	19: 6,389,921 (GRCm39)	S464P	probably benign	Het
Mrgpra2b	T	A	7: 47,113,742 (GRCm39)	E330V	probably damaging	Het
Myoz2	A	T	3: 122,819,765 (GRCm39)	S65T	probably damaging	Het
Nckap1	A	G	2: 80,364,014 (GRCm39)	M492T	possibly damaging	Het
Nhsl1	A	T	10: 18,284,261 (GRCm39)	K67N	probably null	Het
Nostrin	A	G	2: 69,019,406 (GRCm39)	R484G	probably benign	Het
Or8g22	T	A	9: 38,958,200 (GRCm39)	I172F	possibly damaging	Het
Otog	T	A	7: 45,923,119 (GRCm39)		probably benign	Het
P2rx5	A	G	11: 73,058,716 (GRCm39)	Y300C	probably damaging	Het
Pars2	T	C	4: 106,510,913 (GRCm39)	F232L	possibly damaging	Het
Pi4ka	A	G	16: 17,115,401 (GRCm39)		probably benign	Het
Pld3	A	G	7: 27,237,082 (GRCm39)	S266P	probably benign	Het
Pole	G	A	5: 110,471,530 (GRCm39)	V1425M	possibly damaging	Het
Prss43	A	G	9: 110,656,510 (GRCm39)	I66V	probably benign	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Slc45a2	A	G	15: 11,025,832 (GRCm39)	Y394C	probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Strip1	T	C	3: 107,534,155 (GRCm39)	S160G	probably benign	Het
Tbx2	A	G	11: 85,724,318 (GRCm39)	K129R	probably benign	Het
Tfr2	T	C	5: 137,585,082 (GRCm39)		probably benign	Het
Thap12	T	C	7: 98,352,645 (GRCm39)	S17P	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tspear	T	C	10: 77,702,166 (GRCm39)	F200L	probably benign	Het
Tspyl5	T	A	15: 33,687,526 (GRCm39)	R140W	possibly damaging	Het
Ttn	T	C	2: 76,606,002 (GRCm39)	D18236G	probably damaging	Het
Upf2	G	A	2: 5,965,800 (GRCm39)	R140Q	unknown	Het
Vps4a	T	A	8: 107,763,276 (GRCm39)	I10N	possibly damaging	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
IGL02532:Catip	APN	1	74,403,775 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- GTTCATCTTTTtgtctgcttgcccg -3'
(R):5'- ACTCTCAGCAGCACCACATTGG -3'

Sequencing Primer
(F):5'- actaagattgactgcatttgcc -3'
(R):5'- ACATTGGCTGCACTGGAGAC -3'

Posted On

2014-03-17