Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01712:Cimip2a'

104846

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 #

IGL01712

Quality Score

Status

Chromosome

Chromosomal Location

25108757-25112292 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 25108804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028346] [ENSMUST00000043584] [ENSMUST00000043774] [ENSMUST00000114363]

AlphaFold

Q9D4K5

Predicted Effect

probably benign
Transcript: ENSMUST00000028346

SMART Domains

Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969

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

probably benign
Transcript: ENSMUST00000043774

SMART Domains

Protein: ENSMUSP00000037603
Gene: ENSMUSG00000036770

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	103	145	9.5e-4	PFAM
Pfam:SHIPPO-rpt	226	255	1.4e-3	PFAM
Pfam:SHIPPO-rpt	265	291	1.4e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114363

SMART Domains

Protein: ENSMUSP00000110003
Gene: ENSMUSG00000036770

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	48	79	2.8e-4	PFAM
Pfam:SHIPPO-rpt	110	136	1.2e-1	PFAM
Pfam:SHIPPO-rpt	152	200	3.5e-1	PFAM
Pfam:SHIPPO-rpt	210	248	1.9e-3	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149509

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,321 (GRCm39)	I164N	possibly damaging	Het
Adgrb3	A	G	1: 25,865,360 (GRCm39)	V161A	probably benign	Het
Arhgdib	G	A	6: 136,901,195 (GRCm39)	T178M	probably damaging	Het
Atp11a	T	A	8: 12,901,138 (GRCm39)	I989K	probably benign	Het
Bcam	T	C	7: 19,492,692 (GRCm39)	S498G	probably damaging	Het
Bcas3	A	G	11: 85,471,874 (GRCm39)	I728V	probably damaging	Het
Cep57	G	T	9: 13,724,713 (GRCm39)	P119Q	possibly damaging	Het
Clip4	T	A	17: 72,106,036 (GRCm39)	I73N	probably damaging	Het
Cpa4	A	G	6: 30,590,815 (GRCm39)	D371G	possibly damaging	Het
Dnah7a	A	G	1: 53,462,429 (GRCm39)	S3721P	probably benign	Het
Fcrla	T	C	1: 170,749,192 (GRCm39)		probably null	Het
Foxg1	T	C	12: 49,432,403 (GRCm39)	S379P	possibly damaging	Het
Gatm	T	A	2: 122,431,306 (GRCm39)	Y227F	possibly damaging	Het
Grid2	A	T	6: 64,642,899 (GRCm39)	D887V	possibly damaging	Het
Gtpbp6	A	T	5: 110,252,245 (GRCm39)	I429N	probably benign	Het
Ighmbp2	A	G	19: 3,323,038 (GRCm39)		probably benign	Het
Irs4	T	C	X: 140,505,395 (GRCm39)	N934D	unknown	Het
Kif16b	T	A	2: 142,490,391 (GRCm39)	N1257I	probably damaging	Het
L1cam	T	C	X: 72,908,044 (GRCm39)	Y169C	probably damaging	Het
L3mbtl3	A	T	10: 26,152,133 (GRCm39)	M821K	probably damaging	Het
Lig3	A	G	11: 82,680,367 (GRCm39)		probably benign	Het
Lpin2	T	A	17: 71,522,063 (GRCm39)	D32E	probably damaging	Het
Mcoln3	T	C	3: 145,834,019 (GRCm39)		probably benign	Het
Mgst2	T	C	3: 51,571,992 (GRCm39)	V40A	probably damaging	Het
Mov10l1	T	C	15: 88,908,969 (GRCm39)	S997P	probably damaging	Het
Mycbpap	G	T	11: 94,403,481 (GRCm39)	H187Q	possibly damaging	Het
Onecut2	T	A	18: 64,519,673 (GRCm39)	S478T	probably damaging	Het
Or2n1d	A	T	17: 38,646,848 (GRCm39)	T267S	probably benign	Het
Or52h7	T	C	7: 104,214,226 (GRCm39)	V266A	probably benign	Het
Pcdhb5	A	T	18: 37,454,306 (GRCm39)	I229F	probably damaging	Het
Pfas	A	G	11: 68,881,886 (GRCm39)	V933A	probably benign	Het
Phldb2	A	T	16: 45,571,792 (GRCm39)	I1200N	probably damaging	Het
Pla2g4e	C	A	2: 120,019,884 (GRCm39)		probably null	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Rhot2	A	G	17: 26,060,334 (GRCm39)		probably null	Het
Serpina3f	C	T	12: 104,184,657 (GRCm39)	P267L	probably damaging	Het
Sppl2a	C	T	2: 126,746,823 (GRCm39)		probably benign	Het
Tas2r122	A	T	6: 132,688,725 (GRCm39)	M56K	possibly damaging	Het
Tbxas1	A	G	6: 39,057,994 (GRCm39)	T450A	probably benign	Het
Tex16	T	C	X: 111,003,451 (GRCm39)	S87P	probably damaging	Het
Them7	T	A	2: 105,209,230 (GRCm39)	F183L	possibly damaging	Het
Tmbim7	A	G	5: 3,720,074 (GRCm39)	T116A	probably damaging	Het
Tomm40	G	T	7: 19,437,288 (GRCm39)	S224R	probably benign	Het
Top3a	A	T	11: 60,652,562 (GRCm39)	I84N	probably damaging	Het
Vmn1r28	A	G	6: 58,242,393 (GRCm39)	T79A	probably benign	Het
Vmn2r61	A	T	7: 41,909,661 (GRCm39)	Y62F	probably damaging	Het
Zbtb42	T	C	12: 112,646,718 (GRCm39)	C298R	probably benign	Het
Zfp395	G	A	14: 65,623,836 (GRCm39)	E102K	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
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

2014-01-21