Mutagenetix > Incidental Mutations

Incidental Mutation 'R5615:Mcidas'

438212

Institutional Source

Beutler Lab

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5615 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112993845-113000394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112997425 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 148 (V148I)

Ref Sequence

ENSEMBL: ENSMUSP00000089721 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092089
AA Change: V148I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000089721
Gene: ENSMUSG00000074651
AA Change: V148I

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

1x: 99.8%
3x: 99.5%
10x: 97.6%
20x: 92.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,606,759	L407H	probably damaging	Het
Abca12	A	T	1: 71,307,059	L884H	probably damaging	Het
Ahr	A	G	12: 35,503,885	V745A	probably benign	Het
Ankrd17	A	T	5: 90,283,436	S830T	possibly damaging	Het
Aox1	A	G	1: 58,096,966	T1123A	probably benign	Het
Arhgef11	T	C	3: 87,722,485		probably null	Het
Bcas3	T	A	11: 85,470,761	C250S	probably damaging	Het
Bckdk	T	C	7: 127,907,317	I272T	probably damaging	Het
Cacna1e	T	C	1: 154,412,170	K1897E	probably damaging	Het
Cd180	A	T	13: 102,706,203	I586F	probably benign	Het
Cep290	A	G	10: 100,531,150	D1121G	probably damaging	Het
Clasrp	A	G	7: 19,586,447		probably benign	Het
Col27a1	G	T	4: 63,281,114	K912N	probably damaging	Het
Dock4	G	T	12: 40,649,480	R231L	probably benign	Het
Ell	G	A	8: 70,590,732	S505N	probably benign	Het
Ephb6	A	G	6: 41,619,291	T833A	probably benign	Het
Hemk1	T	A	9: 107,330,824		probably null	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hspa12a	T	C	19: 58,804,650	I368V	possibly damaging	Het
Igkv3-3	A	T	6: 70,687,230	T19S	probably benign	Het
Itpr1	G	A	6: 108,488,600	A2158T	possibly damaging	Het
Lancl2	T	C	6: 57,722,511	Y104H	probably damaging	Het
Leng8	G	T	7: 4,144,958	E634*	probably null	Het
Lrrk1	A	T	7: 66,287,615	C930S	probably damaging	Het
Lvrn	C	T	18: 46,850,328	S46L	possibly damaging	Het
Mprip	A	T	11: 59,758,487	T1006S	probably benign	Het
Mrgprb3	T	A	7: 48,643,486	M106L	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mtor	G	A	4: 148,538,276	V1938I	possibly damaging	Het
Muc2	A	G	7: 141,691,203	D46G	probably damaging	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Olfr1113	T	A	2: 87,213,739	F282L	probably benign	Het
Olfr811	A	T	10: 129,801,767	C253S	probably damaging	Het
Osbp2	C	T	11: 3,863,356	G171D	probably benign	Het
Otud6b	A	T	4: 14,818,187	M238K	possibly damaging	Het
Pcdhac2	G	A	18: 37,146,423	G819R	probably benign	Het
Pcdhac2	G	T	18: 37,146,424	G819V	probably benign	Het
Pcdhga12	T	G	18: 37,768,079	S655A	probably damaging	Het
Pkd1l3	A	G	8: 109,630,210	I756V	probably benign	Het
Plekhd1	T	A	12: 80,720,590	S251T	probably damaging	Het
Ppp2r1a	A	T	17: 20,958,987	T96S	probably benign	Het
Qser1	A	C	2: 104,789,694	S258A	possibly damaging	Het
Rsph4a	G	A	10: 33,909,328	A412T	probably benign	Het
Sass6	T	A	3: 116,607,486	C159S	probably benign	Het
Scaf4	T	C	16: 90,251,960	Q322R	unknown	Het
Sema6d	C	T	2: 124,656,901	H244Y	probably damaging	Het
Sigirr	T	G	7: 141,092,719	L163F	probably damaging	Het
Spata31d1c	C	A	13: 65,035,264	L207I	possibly damaging	Het
Tacstd2	A	G	6: 67,535,049	F220L	probably damaging	Het
Tdpoz4	A	T	3: 93,797,499	T368S	probably benign	Het
Tnxb	C	A	17: 34,683,418	Q1082K	probably damaging	Het
Trim41	GCCTAGGCGCCCA	G	11: 48,807,365		probably benign	Het
Trpm6	C	T	19: 18,829,933	R1014C	probably damaging	Het
Ugt1a10	TTCATCA	TTCA	1: 88,216,158		probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r61	T	A	7: 42,267,253	M430K	probably benign	Het
Vmn2r61	A	G	7: 42,300,493	E779G	probably damaging	Het
Zfp599	T	C	9: 22,253,869	D70G	probably benign	Het
Zmym1	A	T	4: 127,049,398	I301N	probably damaging	Het

Other mutations in Mcidas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Mcidas	APN	13	112997585	splice site	probably benign
IGL01355:Mcidas	APN	13	112999069	missense	probably damaging	1.00
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
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
X0066:Mcidas	UTSW	13	112997447	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCAGGTTAGCTCAGCAGGTG -3'
(R):5'- GCTCTATTCCAAAATTCCCAGC -3'

Sequencing Primer
(F):5'- TTAGCTCAGCAGGTGTATAGAGC -3'
(R):5'- CCAGCAGCATCCCTACTTGG -3'

Posted On

2016-10-26