Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02210:Mob3c'

284656

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mob3c

Ensembl Gene

ENSMUSG00000028709

Gene Name

MOB kinase activator 3C

Synonyms

MOB3C, D130076I06Rik, Mobkl2c

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL02210

Quality Score

Status

Chromosome

Chromosomal Location

115685289-115693382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115690952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 181 (H181N)

Ref Sequence

ENSEMBL: ENSMUSP00000030477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030477] [ENSMUST00000148409]

AlphaFold

Q8BJG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030477
AA Change: H181N

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

SMART Domains

Protein: ENSMUSP00000030477
Gene: ENSMUSG00000028709
AA Change: H181N

Domain	Start	End	E-Value	Type
Mob1_phocein	33	207	3.04e-103	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144839

Predicted Effect

probably benign
Transcript: ENSMUST00000148409

SMART Domains

Protein: ENSMUSP00000123611
Gene: ENSMUSG00000028709

Domain	Start	End	E-Value	Type
Pfam:Mob1_phocein	31	90	1.3e-21	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,633,097 (GRCm39)	F215S	probably damaging	Het
Acvr2a	A	T	2: 48,788,538 (GRCm39)	H422L	probably damaging	Het
Adcy6	T	C	15: 98,492,852 (GRCm39)	Y908C	possibly damaging	Het
Alyref	A	C	11: 120,488,499 (GRCm39)	S110A	possibly damaging	Het
Ankrd1	T	C	19: 36,095,714 (GRCm39)	D86G	probably damaging	Het
Anpep	T	A	7: 79,476,652 (GRCm39)	Y29F	probably benign	Het
Appl1	T	C	14: 26,647,909 (GRCm39)		probably benign	Het
Arrdc5	T	C	17: 56,607,026 (GRCm39)	D73G	probably damaging	Het
Atp12a	T	A	14: 56,609,201 (GRCm39)	Y142*	probably null	Het
Clec4a3	T	A	6: 122,931,067 (GRCm39)	I52N	probably damaging	Het
Cmya5	G	A	13: 93,229,242 (GRCm39)	P1949S	probably benign	Het
Crybb2	T	A	5: 113,206,253 (GRCm39)	Q194L	probably damaging	Het
Dmxl2	A	C	9: 54,311,333 (GRCm39)	L1796R	probably damaging	Het
Ecm1	A	G	3: 95,643,289 (GRCm39)	F337S	probably damaging	Het
F5	T	C	1: 164,017,710 (GRCm39)	S596P	probably benign	Het
Fat4	A	G	3: 38,946,002 (GRCm39)	T1632A	probably benign	Het
Gm5070	T	G	3: 95,317,936 (GRCm39)		noncoding transcript	Het
Hps5	T	C	7: 46,435,994 (GRCm39)	Y184C	probably benign	Het
Letmd1	T	C	15: 100,367,128 (GRCm39)		probably null	Het
Lipo5	A	T	19: 33,445,277 (GRCm39)	N97K	unknown	Het
Mis18bp1	A	T	12: 65,183,605 (GRCm39)	Y922*	probably null	Het
Muc4	A	T	16: 32,574,054 (GRCm39)	T711S	probably benign	Het
Nav3	T	C	10: 109,602,851 (GRCm39)	T1233A	probably benign	Het
Nherf4	T	G	9: 44,159,614 (GRCm39)	T461P	probably benign	Het
Or12e8	T	A	2: 87,188,347 (GRCm39)	D186E	probably damaging	Het
Or12k8	G	T	2: 36,975,631 (GRCm39)	T43N	possibly damaging	Het
Pcnt	T	C	10: 76,225,053 (GRCm39)	E1817G	possibly damaging	Het
Pgap4	A	G	4: 49,586,686 (GRCm39)	Y161H	probably benign	Het
Phc3	A	G	3: 30,990,858 (GRCm39)	V420A	probably damaging	Het
Plekhn1	A	T	4: 156,308,106 (GRCm39)	C316S	probably damaging	Het
Ppp1cb	T	A	5: 32,640,818 (GRCm39)		probably benign	Het
Slc29a4	T	C	5: 142,704,534 (GRCm39)	Y359H	probably damaging	Het
Sspo	T	C	6: 48,477,426 (GRCm39)	I4982T	probably damaging	Het
Sstr4	T	A	2: 148,238,229 (GRCm39)	L280Q	probably damaging	Het
Stap1	G	A	5: 86,225,920 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,247,020 (GRCm39)	V865A	possibly damaging	Het
Tnr	T	A	1: 159,679,671 (GRCm39)	V215D	probably benign	Het
Trpm1	T	C	7: 63,860,613 (GRCm39)	L288P	probably damaging	Het
Ttll5	T	A	12: 85,959,319 (GRCm39)		probably benign	Het
Usp8	T	C	2: 126,559,976 (GRCm39)		probably benign	Het
Uxs1	T	C	1: 43,789,446 (GRCm39)	Y403C	possibly damaging	Het
Wnk2	T	C	13: 49,244,345 (GRCm39)	E497G	probably damaging	Het
Xdh	T	C	17: 74,250,890 (GRCm39)	K21E	probably benign	Het

Other mutations in Mob3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1718:Mob3c	UTSW	4	115,688,841 (GRCm39)	missense	probably benign	0.00
R1989:Mob3c	UTSW	4	115,688,754 (GRCm39)	missense	probably damaging	1.00
R4678:Mob3c	UTSW	4	115,690,968 (GRCm39)	splice site	probably null
R4883:Mob3c	UTSW	4	115,690,928 (GRCm39)	missense	probably benign	0.11
R5610:Mob3c	UTSW	4	115,690,878 (GRCm39)	missense	probably benign	0.17
R7009:Mob3c	UTSW	4	115,688,779 (GRCm39)	missense	probably benign
R7248:Mob3c	UTSW	4	115,688,881 (GRCm39)	missense	probably benign
R7410:Mob3c	UTSW	4	115,688,784 (GRCm39)	missense	probably damaging	1.00
R8039:Mob3c	UTSW	4	115,688,884 (GRCm39)	missense	probably benign	0.00
R8281:Mob3c	UTSW	4	115,688,635 (GRCm39)	missense	probably benign	0.19

Posted On

2015-04-16