Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01344:Cimip2a'

74983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cimip2a

Ensembl Gene

ENSMUSG00000026969

Gene Name

ciliary microtubule inner protein 2A

Synonyms

Fam166a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL01344

Quality Score

Status

Chromosome

Chromosomal Location

25108757-25112292 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25110345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 86 (I86F)

Ref Sequence

ENSEMBL: ENSMUSP00000028346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028346] [ENSMUST00000043584]

AlphaFold

Q9D4K5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028346
AA Change: I86F

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969
AA Change: I86F

Domain	Start	End	E-Value	Type
Pfam:DUF2475	13	71	8.1e-16	PFAM
low complexity region	130	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043584

SMART Domains

Protein: ENSMUSP00000042342
Gene: ENSMUSG00000036752

Domain	Start	End	E-Value	Type
Tubulin	47	244	1.04e-67	SMART
Tubulin_C	246	383	3.89e-49	SMART
low complexity region	428	445	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145607

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	A	G	2: 156,699,020 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,923,139 (GRCm39)	K237R	possibly damaging	Het
Antxrl	A	C	14: 33,797,554 (GRCm39)	M510L	probably benign	Het
Bdp1	T	C	13: 100,214,588 (GRCm39)	D417G	probably benign	Het
C3	T	G	17: 57,531,880 (GRCm39)	N250T	probably benign	Het
Cacna2d1	T	A	5: 16,575,629 (GRCm39)	I1073K	probably benign	Het
Ccin	A	T	4: 43,984,069 (GRCm39)	N159Y	probably damaging	Het
Cep76	T	C	18: 67,756,467 (GRCm39)	T455A	possibly damaging	Het
Chaf1a	T	A	17: 56,371,104 (GRCm39)	V663E	probably damaging	Het
Chit1	T	C	1: 134,079,052 (GRCm39)	F454S	probably damaging	Het
Clasp2	A	G	9: 113,642,360 (GRCm39)		probably null	Het
Ctcfl	G	T	2: 172,936,527 (GRCm39)	A615E	possibly damaging	Het
Edaradd	T	C	13: 12,493,371 (GRCm39)	D107G	probably damaging	Het
Efl1	T	C	7: 82,330,688 (GRCm39)		probably benign	Het
Eps15l1	A	G	8: 73,136,169 (GRCm39)		probably null	Het
Fahd2a	T	C	2: 127,283,987 (GRCm39)	K18E	probably benign	Het
Fbxl20	A	T	11: 97,990,926 (GRCm39)	C147*	probably null	Het
Gsap	G	T	5: 21,447,881 (GRCm39)		probably null	Het
Gtse1	A	T	15: 85,746,267 (GRCm39)		probably null	Het
Kcp	A	T	6: 29,498,950 (GRCm39)		probably null	Het
Llgl2	A	G	11: 115,742,019 (GRCm39)	D687G	probably benign	Het
Mcpt8	T	A	14: 56,321,402 (GRCm39)	I21F	probably damaging	Het
Met	C	A	6: 17,547,031 (GRCm39)	S888Y	probably benign	Het
Mrtfa	T	C	15: 80,900,503 (GRCm39)	T663A	probably damaging	Het
Ngf	A	G	3: 102,427,628 (GRCm39)	T130A	probably benign	Het
Otud7b	T	A	3: 96,058,297 (GRCm39)		probably benign	Het
Preb	C	T	5: 31,113,388 (GRCm39)	V349M	probably damaging	Het
Prmt1	G	T	7: 44,627,059 (GRCm39)		probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Ptprt	T	A	2: 161,393,737 (GRCm39)	D1209V	probably damaging	Het
Rigi	G	A	4: 40,208,883 (GRCm39)	T698I	probably damaging	Het
Sh3bp4	A	G	1: 89,080,958 (GRCm39)	N925S	probably benign	Het
Skint3	T	A	4: 112,147,519 (GRCm39)	M414K	possibly damaging	Het
Skor1	A	T	9: 63,049,560 (GRCm39)	S787R	possibly damaging	Het
Slc12a7	T	A	13: 73,940,856 (GRCm39)	I288N	probably damaging	Het
Smg1	A	G	7: 117,790,059 (GRCm39)		probably benign	Het
Tpp2	C	T	1: 44,022,422 (GRCm39)	T940I	probably benign	Het
Trappc11	A	T	8: 47,972,739 (GRCm39)	I278N	probably damaging	Het
Umodl1	G	A	17: 31,215,238 (GRCm39)	V1021I	probably damaging	Het
Usp24	T	C	4: 106,236,582 (GRCm39)	S1059P	possibly damaging	Het

Other mutations in Cimip2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Cimip2a	APN	2	25,108,804 (GRCm39)	unclassified	probably benign
IGL03056:Cimip2a	APN	2	25,111,367 (GRCm39)	missense	possibly damaging	0.73
IGL03232:Cimip2a	APN	2	25,111,751 (GRCm39)	nonsense	probably null
R0368:Cimip2a	UTSW	2	25,110,685 (GRCm39)	missense	probably benign
R0761:Cimip2a	UTSW	2	25,110,135 (GRCm39)	unclassified	probably benign
R1997:Cimip2a	UTSW	2	25,110,217 (GRCm39)	missense	probably damaging	1.00
R2106:Cimip2a	UTSW	2	25,110,663 (GRCm39)	missense	probably damaging	0.99
R4575:Cimip2a	UTSW	2	25,110,300 (GRCm39)	missense	probably benign	0.00
R4576:Cimip2a	UTSW	2	25,110,300 (GRCm39)	missense	probably benign	0.00
R4577:Cimip2a	UTSW	2	25,110,300 (GRCm39)	missense	probably benign	0.00
R4578:Cimip2a	UTSW	2	25,110,300 (GRCm39)	missense	probably benign	0.00
R5829:Cimip2a	UTSW	2	25,108,869 (GRCm39)	critical splice donor site	probably null
R5896:Cimip2a	UTSW	2	25,110,578 (GRCm39)	missense	probably benign
R6618:Cimip2a	UTSW	2	25,110,635 (GRCm39)	missense	probably benign	0.02
R6905:Cimip2a	UTSW	2	25,110,491 (GRCm39)	missense	probably benign	0.00
R7178:Cimip2a	UTSW	2	25,110,252 (GRCm39)	missense	probably damaging	0.99
R7636:Cimip2a	UTSW	2	25,108,832 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-10-07