Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01355:Mcidas'

75500

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcidas

Ensembl Gene

ENSMUSG00000074651

Gene Name

multiciliate differentiation and DNA synthesis associated cell cycle protein

Synonyms

Idas, Mci, multicilin, Mcin, Gm6320

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01355

Quality Score

Status

Chromosome

Chromosomal Location

112993845-113000394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112999069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 342 (F342S)

Ref Sequence

ENSEMBL: ENSMUSP00000089721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092089]

AlphaFold

Q3UZ45

Predicted Effect

probably damaging
Transcript: ENSMUST00000092089
AA Change: F342S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089721
Gene: ENSMUSG00000074651
AA Change: F342S

Domain	Start	End	E-Value	Type
low complexity region	60	73	N/A	INTRINSIC
Pfam:Geminin	169	258	4.8e-20	PFAM
low complexity region	262	272	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajap1	C	T	4: 153,386,481	V290I	probably damaging	Het
Ankrd12	A	G	17: 65,970,340		probably benign	Het
Anxa4	A	T	6: 86,752,205	I140N	probably damaging	Het
Asap2	A	G	12: 21,218,086		probably benign	Het
Cd36	C	T	5: 17,813,074	V214I	possibly damaging	Het
Col24a1	T	C	3: 145,314,876	L336S	probably benign	Het
Dcc	C	T	18: 71,809,114	V311I	probably benign	Het
Gpr146	A	T	5: 139,378,904		probably benign	Het
Irf1	T	C	11: 53,774,361	V188A	probably benign	Het
Limk1	G	A	5: 134,657,900		probably benign	Het
Mctp1	A	G	13: 76,384,955	T141A	probably benign	Het
Mnd1	C	A	3: 84,116,477	A101S	probably benign	Het
Nsun7	T	C	5: 66,294,868	S466P	probably damaging	Het
Olfr1279	T	A	2: 111,307,093	I296K	probably benign	Het
Olfr165	C	T	16: 19,407,583	M145I	probably benign	Het
Olfr617	A	G	7: 103,584,373	E117G	probably damaging	Het
Pik3c2g	G	T	6: 139,852,857	G371V	probably damaging	Het
Sdad1	A	G	5: 92,302,679	V199A	probably damaging	Het
Spg11	C	T	2: 122,113,156	V172I	probably benign	Het
Tas2r108	A	G	6: 40,493,751	T54A	possibly damaging	Het
Tmem121b	A	G	6: 120,492,466	L430P	probably damaging	Het
Traf3ip1	A	G	1: 91,518,297	D384G	probably damaging	Het
Trank1	A	G	9: 111,365,520	T871A	possibly damaging	Het
Vegfa	T	C	17: 46,025,421	M258V	possibly damaging	Het
Zbtb49	A	G	5: 38,210,616		probably null	Het

Other mutations in Mcidas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Mcidas	APN	13	112997585	splice site	probably benign
IGL02000:Mcidas	APN	13	112997440	missense	probably benign
IGL02019:Mcidas	APN	13	112996843	missense	probably benign	0.00
R0145:Mcidas	UTSW	13	112994372	missense	probably damaging	1.00
R0412:Mcidas	UTSW	13	112999143	missense	probably damaging	1.00
R1293:Mcidas	UTSW	13	112997392	missense	probably benign
R2011:Mcidas	UTSW	13	112993981	missense	possibly damaging	0.84
R4183:Mcidas	UTSW	13	112994372	missense	probably damaging	1.00
R4905:Mcidas	UTSW	13	112994417	missense	possibly damaging	0.84
R4905:Mcidas	UTSW	13	112997504	missense	possibly damaging	0.82
R5615:Mcidas	UTSW	13	112997425	missense	probably benign	0.01
R5997:Mcidas	UTSW	13	112998586	missense	probably damaging	0.99
R6848:Mcidas	UTSW	13	112993885	missense	probably benign
R7387:Mcidas	UTSW	13	112994088	missense	probably benign	0.03
R7398:Mcidas	UTSW	13	112996882	missense	probably benign
R7742:Mcidas	UTSW	13	112998987	missense	probably damaging	1.00
R7795:Mcidas	UTSW	13	112998987	missense	probably damaging	1.00
R7797:Mcidas	UTSW	13	112998987	missense	probably damaging	1.00
R7872:Mcidas	UTSW	13	112998987	missense	probably damaging	1.00
R7873:Mcidas	UTSW	13	112998987	missense	probably damaging	1.00
R7920:Mcidas	UTSW	13	112998987	missense	probably damaging	1.00
R8859:Mcidas	UTSW	13	112994130	missense	possibly damaging	0.90
R9342:Mcidas	UTSW	13	112994381	missense	probably damaging	1.00
R9761:Mcidas	UTSW	13	112998919	missense	probably benign	0.04
X0066:Mcidas	UTSW	13	112997447	missense	probably damaging	0.97

Posted On

2013-10-07