Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03056:Cimip2a'

409227

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 #

IGL03056

Quality Score

Status

Chromosome

Chromosomal Location

25108757-25112292 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25111367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 232 (M232K)

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: M232K

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969
AA Change: M232K

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,647,862 (GRCm39)	H1118R	probably damaging	Het
Aff1	G	A	5: 103,958,947 (GRCm39)	V339I	probably damaging	Het
Ank1	G	T	8: 23,631,195 (GRCm39)	V107F	probably damaging	Het
Aox3	T	C	1: 58,198,180 (GRCm39)		probably null	Het
Cd160	T	C	3: 96,713,127 (GRCm39)	T46A	probably benign	Het
Col20a1	A	T	2: 180,636,682 (GRCm39)	Y221F	probably damaging	Het
Ddx18	C	T	1: 121,492,264 (GRCm39)	A148T	probably benign	Het
Dennd5b	A	G	6: 148,956,570 (GRCm39)	M307T	probably damaging	Het
Fam216b	G	A	14: 78,320,223 (GRCm39)	H86Y	probably benign	Het
Fh1	A	T	1: 175,433,728 (GRCm39)	C374S	probably damaging	Het
Fkbp14	A	G	6: 54,556,529 (GRCm39)	V207A	probably benign	Het
Gucy1a1	T	C	3: 82,020,594 (GRCm39)	K101R	probably benign	Het
Kcnk2	G	T	1: 189,027,908 (GRCm39)	Q116K	possibly damaging	Het
Kdm5b	C	A	1: 134,515,717 (GRCm39)	Q114K	probably damaging	Het
Kif12	C	T	4: 63,085,193 (GRCm39)	R516Q	probably null	Het
Lca5l	C	T	16: 95,962,551 (GRCm39)	C463Y	probably benign	Het
Lgsn	T	A	1: 31,242,705 (GRCm39)	Y262*	probably null	Het
Lig4	A	G	8: 10,022,580 (GRCm39)	I400T	possibly damaging	Het
Mink1	T	A	11: 70,503,409 (GRCm39)		probably null	Het
Mprip	T	A	11: 59,662,518 (GRCm39)	I2243N	probably damaging	Het
Myo1f	A	T	17: 33,804,574 (GRCm39)	Y426F	probably damaging	Het
Naip2	T	A	13: 100,298,795 (GRCm39)	S414C	possibly damaging	Het
Nrg1	T	C	8: 32,311,451 (GRCm39)	I363V	possibly damaging	Het
Or4f54	A	T	2: 111,123,517 (GRCm39)	R301S	possibly damaging	Het
Or52r1b	A	T	7: 102,690,958 (GRCm39)	I86L	possibly damaging	Het
Serpinb9d	T	C	13: 33,386,736 (GRCm39)	V268A	probably damaging	Het
Slc15a1	A	G	14: 121,728,695 (GRCm39)	F17L	possibly damaging	Het
Slc9a3	T	A	13: 74,298,938 (GRCm39)	V119E	probably damaging	Het
Sspo	T	A	6: 48,447,472 (GRCm39)	M2346K	probably benign	Het
Tcf4	G	T	18: 69,784,283 (GRCm39)		probably benign	Het
Trabd2b	T	C	4: 114,266,535 (GRCm39)	V183A	probably damaging	Het
Ust	T	C	10: 8,083,326 (GRCm39)	H350R	probably benign	Het
Zfp952	T	A	17: 33,221,740 (GRCm39)	V35E	probably damaging	Het

Other mutations in Cimip2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Cimip2a	APN	2	25,110,345 (GRCm39)	missense	possibly damaging	0.90
IGL01712:Cimip2a	APN	2	25,108,804 (GRCm39)	unclassified	probably benign
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

2016-08-02