Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03186:Cimap1c'

412469

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cimap1c

Ensembl Gene

ENSMUSG00000045620

Gene Name

ciliary microtubule associated protein 1C

Synonyms

Odf3l1, LOC382075

Accession Numbers

Essential gene?

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

Stock #

IGL03186

Quality Score

Status

Chromosome

Chromosomal Location

56755943-56771963 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 56756356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 220 (N220T)

Ref Sequence

ENSEMBL: ENSMUSP00000149166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055036] [ENSMUST00000215694]

AlphaFold

Q810P2

Predicted Effect

probably benign
Transcript: ENSMUST00000055036
AA Change: N189T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000060418
Gene: ENSMUSG00000045620
AA Change: N189T

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	235	264	5.8e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215694
AA Change: N220T

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,581,737 (GRCm39)	I4769T	possibly damaging	Het
Ankrd53	T	C	6: 83,740,695 (GRCm39)	I106T	probably benign	Het
Arsi	A	G	18: 61,050,545 (GRCm39)	D476G	probably damaging	Het
Atp2c1	T	C	9: 105,290,329 (GRCm39)	K760E	probably benign	Het
C030048H21Rik	A	G	2: 26,143,350 (GRCm39)		probably null	Het
Cep152	A	G	2: 125,405,895 (GRCm39)	S1546P	probably benign	Het
Clock	T	C	5: 76,390,929 (GRCm39)	H291R	probably damaging	Het
Fkbp4	T	C	6: 128,411,763 (GRCm39)	T109A	probably benign	Het
Igkv1-117	T	C	6: 68,098,783 (GRCm39)	Y111H	probably damaging	Het
Kif20b	A	T	19: 34,912,344 (GRCm39)	E250V	probably benign	Het
Mef2c	A	G	13: 83,800,987 (GRCm39)	N229S	probably benign	Het
Ndufa9	A	G	6: 126,821,855 (GRCm39)	V36A	possibly damaging	Het
Neb	T	C	2: 52,100,671 (GRCm39)		probably benign	Het
Neb	G	A	2: 52,059,100 (GRCm39)	H213Y	probably damaging	Het
Neurl1a	T	A	19: 47,228,916 (GRCm39)	F152Y	probably damaging	Het
Nlrp14	G	T	7: 106,785,877 (GRCm39)	C651F	probably damaging	Het
Or4a2	T	A	2: 89,248,188 (GRCm39)	T190S	probably damaging	Het
Or5ac20	A	T	16: 59,104,266 (GRCm39)	V198E	probably damaging	Het
Or7g21	T	A	9: 19,033,200 (GRCm39)	D316E	probably benign	Het
Pex2	C	A	3: 5,626,777 (GRCm39)	A11S	probably benign	Het
Pitpna	C	A	11: 75,503,076 (GRCm39)	H137N	probably benign	Het
Pole	T	G	5: 110,447,786 (GRCm39)		probably null	Het
Rft1	T	A	14: 30,380,306 (GRCm39)	I35N	possibly damaging	Het
Serpina1e	T	C	12: 103,915,462 (GRCm39)	H248R	probably benign	Het
Sgsm1	C	T	5: 113,432,887 (GRCm39)	A254T	probably benign	Het
St3gal3	G	A	4: 117,797,251 (GRCm39)	P331S	possibly damaging	Het
Ttn	T	A	2: 76,602,106 (GRCm39)	K16773*	probably null	Het
Zfp687	T	C	3: 94,918,405 (GRCm39)	T456A	probably benign	Het
Zranb1	A	G	7: 132,551,932 (GRCm39)	I220M	possibly damaging	Het

Other mutations in Cimap1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Cimap1c	APN	9	56,758,975 (GRCm39)	missense	probably benign	0.14
IGL00990:Cimap1c	APN	9	56,756,341 (GRCm39)	missense	probably benign	0.01
R1791:Cimap1c	UTSW	9	56,759,027 (GRCm39)	missense	possibly damaging	0.90
R1893:Cimap1c	UTSW	9	56,756,498 (GRCm39)	missense	probably benign	0.43
R7177:Cimap1c	UTSW	9	56,757,262 (GRCm39)	missense	possibly damaging	0.70
R7471:Cimap1c	UTSW	9	56,759,783 (GRCm39)	critical splice donor site	probably null
R7761:Cimap1c	UTSW	9	56,759,822 (GRCm39)	missense	unknown

Posted On

2016-08-02