Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02583:Cimap2'

299457

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cimap2

Ensembl Gene

ENSMUSG00000054362

Gene Name

ciliary microtubule associated protein 2

Synonyms

BC055111, Lexm

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02583

Quality Score

Status

Chromosome

Chromosomal Location

106448106-106474438 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 106468602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067387] [ENSMUST00000106788] [ENSMUST00000126324] [ENSMUST00000189032]

AlphaFold

A2AVQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000067387

SMART Domains

Protein: ENSMUSP00000066732
Gene: ENSMUSG00000054362

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	63	83	1.3e-2	PFAM
Pfam:SHIPPO-rpt	119	152	3.5e-4	PFAM
low complexity region	157	173	N/A	INTRINSIC
Pfam:SHIPPO-rpt	205	240	4.3e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106788

SMART Domains

Protein: ENSMUSP00000102400
Gene: ENSMUSG00000054362

Domain	Start	End	E-Value	Type
internal_repeat_1	62	146	2.56e-5	PROSPERO
low complexity region	157	173	N/A	INTRINSIC
internal_repeat_1	204	279	2.56e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000126324

Predicted Effect

probably benign
Transcript: ENSMUST00000189032

SMART Domains

Protein: ENSMUSP00000139868
Gene: ENSMUSG00000054362

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	63	83	1.3e-2	PFAM
Pfam:SHIPPO-rpt	119	152	3.5e-4	PFAM
low complexity region	157	173	N/A	INTRINSIC
Pfam:SHIPPO-rpt	205	240	4.3e-3	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Heterozygous null mice show decreased CD8-positive, alpha-beta T cell number and decreased cytotoxic T cell cytolysis in response to lymphocytic choriomeningitis virus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	C	T	5: 26,684,717 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,392 (GRCm39)	D140E	possibly damaging	Het
Bod1l	C	T	5: 41,973,550 (GRCm39)		probably null	Het
Brms1	T	A	19: 5,096,206 (GRCm39)	V61D	probably damaging	Het
Card11	A	T	5: 140,863,881 (GRCm39)	N952K	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col15a1	T	C	4: 47,279,866 (GRCm39)	V697A	probably benign	Het
Col7a1	A	T	9: 108,791,297 (GRCm39)	I1118F	unknown	Het
Cyfip2	T	C	11: 46,140,585 (GRCm39)	E746G	possibly damaging	Het
Dach1	A	G	14: 98,065,830 (GRCm39)		probably benign	Het
Dock11	G	T	X: 35,270,370 (GRCm39)	G1023W	possibly damaging	Het
Fbxo10	T	C	4: 45,044,754 (GRCm39)	D453G	probably damaging	Het
Fhad1	T	C	4: 141,738,955 (GRCm39)		probably benign	Het
Gm17415	A	G	1: 93,349,801 (GRCm39)		probably benign	Het
Gm4781	A	T	10: 100,232,507 (GRCm39)		noncoding transcript	Het
Gpatch2	A	C	1: 186,965,514 (GRCm39)		probably null	Het
Gpatch2	G	T	1: 186,965,515 (GRCm39)		probably null	Het
Greb1	A	G	12: 16,756,296 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,542,362 (GRCm39)	Y1319C	probably damaging	Het
Ice1	C	T	13: 70,753,854 (GRCm39)	R744H	possibly damaging	Het
Kcnq2	T	A	2: 180,723,295 (GRCm39)	S694C	probably benign	Het
Krt35	C	A	11: 99,983,360 (GRCm39)	V448L	possibly damaging	Het
Lmo7	A	G	14: 102,171,360 (GRCm39)		probably benign	Het
Megf8	T	C	7: 25,055,218 (GRCm39)	S1984P	probably benign	Het
Nlrp1a	T	C	11: 71,014,227 (GRCm39)	Q341R	probably benign	Het
Or1p1	T	A	11: 74,180,330 (GRCm39)	L286Q	probably damaging	Het
Or51a6	T	C	7: 102,603,918 (GRCm39)	T297A	possibly damaging	Het
Osr1	C	T	12: 9,629,675 (GRCm39)	H183Y	probably damaging	Het
Paf1	T	C	7: 28,095,596 (GRCm39)	V202A	probably damaging	Het
Pde10a	A	G	17: 9,200,462 (GRCm39)	K1071E	probably benign	Het
Pwp2	T	C	10: 78,016,917 (GRCm39)	R268G	probably benign	Het
Rwdd1	T	A	10: 33,877,669 (GRCm39)	K178*	probably null	Het
Scn10a	A	T	9: 119,520,506 (GRCm39)		probably benign	Het
Sema3g	A	G	14: 30,943,476 (GRCm39)		probably null	Het
Slc22a6	C	A	19: 8,600,980 (GRCm39)	A391E	possibly damaging	Het
Slc41a3	G	A	6: 90,621,153 (GRCm39)	G372S	probably damaging	Het
Sqor	G	T	2: 122,641,690 (GRCm39)	K3N	probably damaging	Het
Srl	T	C	16: 4,310,244 (GRCm39)	Q495R	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stxbp3	G	T	3: 108,708,187 (GRCm39)	D371E	probably damaging	Het
Tnfrsf19	C	A	14: 61,261,659 (GRCm39)	V47F	probably damaging	Het
Usp11	A	T	X: 20,584,284 (GRCm39)	E622V	probably benign	Het
Vmn1r52	T	A	6: 90,156,126 (GRCm39)	Y143*	probably null	Het
Zfp280d	A	G	9: 72,229,727 (GRCm39)		probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zmat1	T	C	X: 133,874,021 (GRCm39)	T457A	probably damaging	Het

Other mutations in Cimap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02576:Cimap2	APN	4	106,448,825 (GRCm39)	missense	possibly damaging	0.86
IGL03329:Cimap2	APN	4	106,464,601 (GRCm39)	missense	possibly damaging	0.92
R0294:Cimap2	UTSW	4	106,470,361 (GRCm39)	missense	probably damaging	1.00
R1875:Cimap2	UTSW	4	106,470,453 (GRCm39)	splice site	probably benign
R2960:Cimap2	UTSW	4	106,470,615 (GRCm39)	missense	probably damaging	1.00
R4654:Cimap2	UTSW	4	106,467,612 (GRCm39)	missense	probably benign	0.03
R4836:Cimap2	UTSW	4	106,467,724 (GRCm39)	critical splice acceptor site	probably null
R5436:Cimap2	UTSW	4	106,467,690 (GRCm39)	missense	probably benign	0.00
R6086:Cimap2	UTSW	4	106,470,403 (GRCm39)	missense	probably damaging	1.00
R6580:Cimap2	UTSW	4	106,468,711 (GRCm39)	missense	possibly damaging	0.73
R6952:Cimap2	UTSW	4	106,467,596 (GRCm39)	critical splice donor site	probably null
R7995:Cimap2	UTSW	4	106,473,112 (GRCm39)	missense	probably benign	0.33
R8118:Cimap2	UTSW	4	106,470,595 (GRCm39)	missense	possibly damaging	0.92
R8258:Cimap2	UTSW	4	106,448,859 (GRCm39)	missense	probably damaging	1.00
R9260:Cimap2	UTSW	4	106,472,634 (GRCm39)	missense	probably benign	0.00
Z1176:Cimap2	UTSW	4	106,464,497 (GRCm39)	missense	probably benign	0.15

Posted On

2015-04-16