Mutagenetix > Incidental Mutations

Incidental Mutation 'R0101:Mtus2'

17904

Institutional Source

Beutler Lab

Gene Symbol

Mtus2

Ensembl Gene

ENSMUSG00000029651

Gene Name

microtubule associated tumor suppressor candidate 2

Synonyms

MMRRC Submission

038387-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R0101 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

147957320-148316065 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148083035 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 747 (S747P)

Ref Sequence

ENSEMBL: ENSMUSP00000082694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085558]

Predicted Effect

probably damaging
Transcript: ENSMUST00000085558
AA Change: S747P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: S747P

Domain	Start	End	E-Value	Type
internal_repeat_1	57	290	2.46e-5	PROSPERO
internal_repeat_1	312	525	2.46e-5	PROSPERO
low complexity region	530	541	N/A	INTRINSIC
low complexity region	802	818	N/A	INTRINSIC
low complexity region	841	852	N/A	INTRINSIC
low complexity region	893	904	N/A	INTRINSIC
coiled coil region	1029	1080	N/A	INTRINSIC
SCOP:d1fxkc_	1167	1294	3e-4	SMART
low complexity region	1332	1349	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149336

Meta Mutation Damage Score

0.1993

Coding Region Coverage

1x: 77.3%
3x: 57.2%
10x: 11.5%
20x: 6.0%

Validation Efficiency

91% (20/22)

Allele List at MGI

Other mutations in this stock

Total: 5 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Lhcgr	A	G	17: 88,765,170	S150P	probably damaging	Het
Rpn1	A	G	6: 88,093,787	D213G	possibly damaging	Het
Spef2	T	C	15: 9,713,108	T393A	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tctn2	T	C	5: 124,615,294		noncoding transcript	Het

Other mutations in Mtus2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Mtus2	APN	5	148077009	unclassified	probably null
IGL01911:Mtus2	APN	5	148078220	missense	probably benign	0.00
IGL01973:Mtus2	APN	5	148303476	splice site	probably benign
IGL02452:Mtus2	APN	5	148077663	missense	probably benign	0.01
IGL02476:Mtus2	APN	5	148077938	missense	probably benign	0.01
IGL02716:Mtus2	APN	5	148236310	missense	probably benign	0.05
IGL03194:Mtus2	APN	5	148107103	missense	probably damaging	1.00
rumblado	UTSW	5	148306708	nonsense	probably null
IGL02991:Mtus2	UTSW	5	148313500	missense	probably damaging	1.00
PIT4431001:Mtus2	UTSW	5	148076705	missense	probably benign	0.01
R0101:Mtus2	UTSW	5	148083035	missense	probably damaging	1.00
R0310:Mtus2	UTSW	5	148107019	missense	probably benign	0.17
R0729:Mtus2	UTSW	5	148077287	missense	probably benign	0.08
R0968:Mtus2	UTSW	5	148078184	missense	probably benign	0.09
R1231:Mtus2	UTSW	5	148077388	missense	probably benign	0.01
R1253:Mtus2	UTSW	5	148303570	nonsense	probably null
R1556:Mtus2	UTSW	5	148077388	missense	probably benign	0.01
R1561:Mtus2	UTSW	5	148076552	missense	probably benign	0.07
R1574:Mtus2	UTSW	5	148076552	missense	probably benign	0.07
R1750:Mtus2	UTSW	5	148277633	missense	probably damaging	0.97
R2318:Mtus2	UTSW	5	148107082	nonsense	probably null
R2327:Mtus2	UTSW	5	148077915	missense	probably benign	0.00
R3153:Mtus2	UTSW	5	148083060	missense	probably damaging	1.00
R3154:Mtus2	UTSW	5	148303273	intron	probably benign
R3158:Mtus2	UTSW	5	148231827	missense	probably damaging	1.00
R3548:Mtus2	UTSW	5	148295506	missense	probably damaging	1.00
R3861:Mtus2	UTSW	5	148313413	missense	probably damaging	1.00
R4395:Mtus2	UTSW	5	148076622	missense	probably benign	0.17
R4396:Mtus2	UTSW	5	148203938	missense	possibly damaging	0.81
R4667:Mtus2	UTSW	5	148298260	missense	possibly damaging	0.64
R4887:Mtus2	UTSW	5	148077103	nonsense	probably null
R4931:Mtus2	UTSW	5	148077416	missense	probably benign	0.09
R5097:Mtus2	UTSW	5	148295582	missense	probably damaging	0.99
R5318:Mtus2	UTSW	5	148076572	missense	probably benign	0.05
R5372:Mtus2	UTSW	5	148313412	missense	probably damaging	1.00
R5388:Mtus2	UTSW	5	148306708	nonsense	probably null
R5622:Mtus2	UTSW	5	148078434	missense	probably benign	0.09
R6009:Mtus2	UTSW	5	148306652	missense	probably damaging	1.00
R6379:Mtus2	UTSW	5	148077198	missense	probably benign	0.00
R6409:Mtus2	UTSW	5	148077615	missense	probably benign
R6527:Mtus2	UTSW	5	148277598	critical splice acceptor site	probably null
R6853:Mtus2	UTSW	5	148107011	missense	probably damaging	1.00
R7001:Mtus2	UTSW	5	148277628	missense	probably damaging	1.00
R7187:Mtus2	UTSW	5	148076705	missense	probably benign	0.01
R7276:Mtus2	UTSW	5	148076558	missense	probably benign
R7594:Mtus2	UTSW	5	148077406	missense	probably benign	0.44
R7790:Mtus2	UTSW	5	148078188	missense	probably benign	0.09
X0017:Mtus2	UTSW	5	148277600	missense	possibly damaging	0.83
X0028:Mtus2	UTSW	5	148077318	missense	probably benign	0.03
Z1088:Mtus2	UTSW	5	148303263	intron	probably benign

Posted On

2013-03-25