Mutagenetix > Incidental Mutation

Incidental Mutation 'R7009:Mob3c'

544887

Institutional Source

Beutler Lab

Gene Symbol

Mob3c

Ensembl Gene

ENSMUSG00000028709

Gene Name

MOB kinase activator 3C

Synonyms

MOB3C, Mobkl2c, D130076I06Rik

MMRRC Submission

045111-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115828092-115836185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115831582 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 104 (R104H)

Ref Sequence

ENSEMBL: ENSMUSP00000030477 (fasta)

Gene Model

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

AlphaFold

Q8BJG4

Predicted Effect

probably benign
Transcript: ENSMUST00000030477
AA Change: R104H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030477
Gene: ENSMUSG00000028709
AA Change: R104H

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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	T	5: 98,784,520 (GRCm38)	D193V	probably damaging	Het
4921517D22Rik	G	T	13: 59,690,810 (GRCm38)	D69E	possibly damaging	Het
Abat	A	C	16: 8,602,367 (GRCm38)	M177L	probably benign	Het
Acadvl	A	G	11: 70,014,791 (GRCm38)		probably null	Het
Adam5	T	C	8: 24,806,438 (GRCm38)	N331S	probably benign	Het
Ager	A	G	17: 34,600,736 (GRCm38)	E372G	probably damaging	Het
Angpt1	T	A	15: 42,523,595 (GRCm38)	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,242,880 (GRCm38)	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,245,976 (GRCm38)	I90F	probably damaging	Het
Arhgap5	A	T	12: 52,519,639 (GRCm38)	Q1131L	probably benign	Het
Bach1	G	A	16: 87,719,291 (GRCm38)	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,969,365 (GRCm38)	M1K	probably null	Het
Ccdc18	G	A	5: 108,173,862 (GRCm38)		probably null	Het
Ccdc42	T	C	11: 68,594,616 (GRCm38)	F267S	probably damaging	Het
Cdh23	T	A	10: 60,337,306 (GRCm38)	Y1700F	probably damaging	Het
Cenpe	A	T	3: 135,235,201 (GRCm38)	S704C	probably damaging	Het
Cenpe	G	A	3: 135,235,202 (GRCm38)	S704N	probably benign	Het
Cfap54	A	T	10: 92,875,019 (GRCm38)	S2727T	unknown	Het
Clu	T	A	14: 65,971,832 (GRCm38)	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,320,034 (GRCm38)	I98V	probably benign	Het
Copa	G	T	1: 172,091,000 (GRCm38)	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,534,683 (GRCm38)		probably null	Het
Etnk1	T	A	6: 143,203,154 (GRCm38)		probably null	Het
Fnip1	A	T	11: 54,502,935 (GRCm38)	K732N	probably damaging	Het
G6pd2	A	G	5: 61,808,891 (GRCm38)	E3G	probably benign	Het
Gal3st2	A	G	1: 93,873,759 (GRCm38)	T95A	probably benign	Het
Gapvd1	A	G	2: 34,700,817 (GRCm38)	S948P	probably damaging	Het
Ggps1	A	T	13: 14,054,165 (GRCm38)	Y8*	probably null	Het
Gria2	T	C	3: 80,706,972 (GRCm38)	E587G	probably damaging	Het
Hpse	T	C	5: 100,692,279 (GRCm38)	E324G	probably benign	Het
Il16	G	A	7: 83,646,388 (GRCm38)	T493I	probably benign	Het
Ints1	T	C	5: 139,768,462 (GRCm38)	T652A	possibly damaging	Het
Ism1	A	G	2: 139,757,279 (GRCm38)	I391V	probably damaging	Het
Katnb1	A	G	8: 95,098,384 (GRCm38)	D598G	probably damaging	Het
Kif5c	A	G	2: 49,757,429 (GRCm38)	S880G	probably benign	Het
Klra8	T	C	6: 130,125,184 (GRCm38)	N96S	probably benign	Het
Krt79	T	A	15: 101,931,441 (GRCm38)	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,259,112 (GRCm38)	R92Q	probably benign	Het
Lce1d	C	A	3: 92,686,046 (GRCm38)	C20F	unknown	Het
Limk1	T	C	5: 134,672,699 (GRCm38)	T117A	probably benign	Het
Medag	A	T	5: 149,427,243 (GRCm38)	K61M	probably benign	Het
Mkrn3	T	C	7: 62,419,618 (GRCm38)	M142V	probably benign	Het
Morc1	G	T	16: 48,627,070 (GRCm38)	R903L	possibly damaging	Het
Myh6	T	C	14: 54,952,292 (GRCm38)	E1099G	probably damaging	Het
Nphp3	T	G	9: 104,016,116 (GRCm38)	C434G	probably null	Het
Npr3	C	T	15: 11,905,248 (GRCm38)	C131Y	probably damaging	Het
Oacyl	C	A	18: 65,722,538 (GRCm38)	Y112*	probably null	Het
Oprl1	A	G	2: 181,718,381 (GRCm38)	T77A	probably damaging	Het
Osgep	A	G	14: 50,924,708 (GRCm38)	V24A	probably damaging	Het
Otx2	T	A	14: 48,658,797 (GRCm38)	K260M	probably damaging	Het
Pdcd11	T	C	19: 47,113,142 (GRCm38)	L922P	probably benign	Het
Phldb1	A	G	9: 44,694,408 (GRCm38)	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,359,935 (GRCm38)		probably null	Het
Psmd3	G	A	11: 98,682,766 (GRCm38)	D13N	probably benign	Het
Ptprc	G	A	1: 138,064,553 (GRCm38)	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,062,984 (GRCm38)	H291L	probably damaging	Het
Rasa4	T	A	5: 136,101,363 (GRCm38)	D324E	probably damaging	Het
Rilpl1	T	A	5: 124,503,692 (GRCm38)		silent	Het
Rin2	A	C	2: 145,883,475 (GRCm38)	D794A	probably damaging	Het
Ripk1	A	G	13: 34,030,062 (GRCm38)	I522M	probably damaging	Het
Rnf31	T	C	14: 55,592,551 (GRCm38)	Y143H	probably benign	Het
Rp1	T	G	1: 4,042,068 (GRCm38)	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,619,537 (GRCm38)	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,460,334 (GRCm38)	V455A	probably damaging	Het
Runx2	G	A	17: 44,814,192 (GRCm38)	P80L	probably damaging	Het
Scn5a	T	G	9: 119,485,930 (GRCm38)	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,436,002 (GRCm38)	S240*	probably null	Het
Slc22a8	C	T	19: 8,605,417 (GRCm38)	T154I	probably benign	Het
Slc25a16	T	A	10: 62,937,454 (GRCm38)	V156E	possibly damaging	Het
Slc28a3	A	T	13: 58,610,804 (GRCm38)	S2T	probably benign	Het
Srd5a3	G	A	5: 76,149,866 (GRCm38)	V48I	probably benign	Het
Srebf1	A	C	11: 60,200,526 (GRCm38)	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,697,191 (GRCm38)	K1310E	probably benign	Het
Swt1	A	G	1: 151,370,630 (GRCm38)	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,840,699 (GRCm38)	T434S	possibly damaging	Het
Tcf20	G	A	15: 82,854,682 (GRCm38)	T856I	probably benign	Het
Tcf7l2	T	C	19: 55,894,733 (GRCm38)		probably null	Het
Tmem246	A	T	4: 49,586,325 (GRCm38)	M281K	probably benign	Het
Trim45	A	G	3: 100,931,879 (GRCm38)		probably benign	Het
Tsen2	T	A	6: 115,547,972 (GRCm38)	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,958,073 (GRCm38)	C715*	probably null	Het
Vmn2r102	G	A	17: 19,694,194 (GRCm38)	V674I	probably damaging	Het
Zfp87	A	G	13: 67,517,054 (GRCm38)	S430P	probably damaging	Het

Other mutations in Mob3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02210:Mob3c	APN	4	115,833,755 (GRCm38)	missense	probably damaging	1.00
R1718:Mob3c	UTSW	4	115,831,644 (GRCm38)	missense	probably benign	0.00
R1989:Mob3c	UTSW	4	115,831,557 (GRCm38)	missense	probably damaging	1.00
R4678:Mob3c	UTSW	4	115,833,771 (GRCm38)	splice site	probably null
R4883:Mob3c	UTSW	4	115,833,731 (GRCm38)	missense	probably benign	0.11
R5610:Mob3c	UTSW	4	115,833,681 (GRCm38)	missense	probably benign	0.17
R7248:Mob3c	UTSW	4	115,831,684 (GRCm38)	missense	probably benign
R7410:Mob3c	UTSW	4	115,831,587 (GRCm38)	missense	probably damaging	1.00
R8039:Mob3c	UTSW	4	115,831,687 (GRCm38)	missense	probably benign	0.00
R8281:Mob3c	UTSW	4	115,831,438 (GRCm38)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- AAGCTTCACTCAAGTCCGGC -3'
(R):5'- TCATAACCAAGATGCTGCCTC -3'

Sequencing Primer
(F):5'- CCTGGACCTTCGGAGTGTG -3'
(R):5'- AAGATGCTGCCTCAACCGG -3'

Posted On

2019-05-13