Mutagenetix > Incidental Mutation

Incidental Mutation 'R6618:Cimip2a'

524193

Institutional Source

Beutler Lab

Gene Symbol

Cimip2a

Ensembl Gene

ENSMUSG00000026969

Gene Name

ciliary microtubule inner protein 2A

Synonyms

Fam166a

MMRRC Submission

044741-MU

Accession Numbers

Essential gene?

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

Stock #

R6618 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

25108757-25112292 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25110635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 148 (L148M)

Ref Sequence

ENSEMBL: ENSMUSP00000028346 (fasta)

Gene Model

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

AlphaFold

Q9D4K5

Predicted Effect

probably benign
Transcript: ENSMUST00000028346
AA Change: L148M

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969
AA Change: L148M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1b2	T	C	11: 69,494,289 (GRCm39)	D68G	probably damaging	Het
Barx2	G	A	9: 31,758,168 (GRCm39)	L257F	probably benign	Het
Bbx	C	G	16: 50,086,626 (GRCm39)	W90S	probably damaging	Het
Bmp1	T	A	14: 70,728,808 (GRCm39)	D588V	probably damaging	Het
Caskin2	C	T	11: 115,690,855 (GRCm39)	M1188I	possibly damaging	Het
Ccdc180	T	A	4: 45,950,708 (GRCm39)	I1651N	probably damaging	Het
Cr2	T	C	1: 194,839,687 (GRCm39)	D580G	probably damaging	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Fam204a	T	C	19: 60,209,069 (GRCm39)		probably null	Het
Fam83h	T	C	15: 75,875,360 (GRCm39)	D659G	probably damaging	Het
Garin3	A	G	11: 46,298,126 (GRCm39)	T477A	probably damaging	Het
Hells	G	T	19: 38,945,528 (GRCm39)	R589L	probably benign	Het
Helz	A	G	11: 107,489,976 (GRCm39)	T144A	probably benign	Het
Il1r1	T	A	1: 40,339,971 (GRCm39)	V258D	probably damaging	Het
Isoc2a	A	T	7: 4,898,325 (GRCm39)	I183F	probably benign	Het
Kat2a	G	T	11: 100,603,196 (GRCm39)		probably benign	Het
Klf9	A	G	19: 23,142,235 (GRCm39)	M232V	probably benign	Het
Lars1	G	T	18: 42,377,973 (GRCm39)	S147R	possibly damaging	Het
Mkrn3	A	G	7: 62,068,781 (GRCm39)	F337L	probably benign	Het
Mrc2	A	T	11: 105,240,708 (GRCm39)	N1466I	probably damaging	Het
Myo5c	G	A	9: 75,182,919 (GRCm39)		probably null	Het
Pigs	T	C	11: 78,232,056 (GRCm39)	L396P	probably damaging	Het
Prkcb	G	A	7: 122,226,886 (GRCm39)	R624Q	probably benign	Het
R3hdm1	T	C	1: 128,121,302 (GRCm39)	S269P	probably benign	Het
Racgap1	A	T	15: 99,521,875 (GRCm39)	I505K	probably damaging	Het
Ralgds	T	A	2: 28,440,523 (GRCm39)	D777E	probably benign	Het
Rdh14	A	G	12: 10,445,123 (GRCm39)	I325V	probably benign	Het
Rpn2	T	A	2: 157,163,781 (GRCm39)	H624Q	probably benign	Het
Scarb1	C	T	5: 125,381,394 (GRCm39)	S50N	probably damaging	Het
Shmt1	T	C	11: 60,683,772 (GRCm39)		probably null	Het
Slc49a3	G	T	5: 108,590,964 (GRCm39)	T400K	probably benign	Het
Smim24	A	G	10: 81,229,966 (GRCm39)	N27S	possibly damaging	Het
Snx13	A	G	12: 35,162,444 (GRCm39)	D550G	probably damaging	Het
Tnfsf18	T	A	1: 161,322,349 (GRCm39)	L23*	probably null	Het
Trpc3	T	A	3: 36,694,844 (GRCm39)	K703N	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Zfy2	A	G	Y: 2,121,477 (GRCm39)	S139P	probably benign	Homo

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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTCCCTACATGGCTCAAGG -3'
(R):5'- TGCAGTGGTATAGCTGGGAC -3'

Sequencing Primer
(F):5'- TACATGGCTCAAGGGCTACC -3'
(R):5'- CTGGGACAAGGAAGTGCAAATTACC -3'

Posted On

2018-06-22