Mutagenetix > Incidental Mutations

Incidental Mutation 'R2318:Mtus2'

245552

Institutional Source

Beutler Lab

Gene Symbol

Mtus2

Ensembl Gene

ENSMUSG00000029651

Gene Name

microtubule associated tumor suppressor candidate 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R2318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147957320-148316065 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 148107082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 827 (R827*)

Ref Sequence

ENSEMBL: ENSMUSP00000082694 (fasta)

Gene Model

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

AlphaFold

Q3UHD3

Predicted Effect

probably null
Transcript: ENSMUST00000085558
AA Change: R827*

SMART Domains

Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: R827*

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: ENSMUST00000128423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149336

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,588,701	Y66H	probably damaging	Het
Arhgef10	G	A	8: 14,928,855	A41T	probably damaging	Het
Car15	T	C	16: 17,836,599	M158V	probably benign	Het
Cinp	C	A	12: 110,874,009	W113L	probably damaging	Het
Col4a3	T	A	1: 82,648,569		probably null	Het
Csnk2b	T	C	17: 35,118,061	Y101C	possibly damaging	Het
Ddb1	C	T	19: 10,626,628	R900C	probably damaging	Het
Eif4g2	A	G	7: 111,073,858	F876L	possibly damaging	Het
F11	A	G	8: 45,248,638	S353P	probably damaging	Het
Gm5868	T	C	5: 72,586,295	T27A	probably benign	Het
Hist1h4d	A	G	13: 23,581,756	Y52C	probably damaging	Het
Mast1	T	C	8: 84,921,125	D540G	probably damaging	Het
Mis18bp1	C	T	12: 65,140,843	V829M	possibly damaging	Het
Nlrp9a	G	A	7: 26,573,852	V860M	probably damaging	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Prr14l	T	C	5: 32,830,078	E691G	probably benign	Het
Rad1	A	G	15: 10,490,409	N154S	probably benign	Het
Smc2	T	C	4: 52,446,030	S133P	probably damaging	Het
Sstr1	T	A	12: 58,212,776	S62T	possibly damaging	Het
Thsd7a	T	C	6: 12,405,147	Y766C	probably damaging	Het
Timm44	A	G	8: 4,268,307	V129A	probably benign	Het
Tinag	T	C	9: 77,045,411	Y97C	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ubap2	A	G	4: 41,251,542	V30A	probably damaging	Het

Other mutations in Mtus2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Mtus2	APN	5	148077009	splice site	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
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
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
R7967:Mtus2	UTSW	5	148077846	missense	probably benign	0.32
R7987:Mtus2	UTSW	5	148232026	splice site	probably null
R8112:Mtus2	UTSW	5	148076903	nonsense	probably null
R8273:Mtus2	UTSW	5	148107005	missense	probably damaging	1.00
R8527:Mtus2	UTSW	5	148303598	missense	probably damaging	1.00
R8542:Mtus2	UTSW	5	148303598	missense	probably damaging	1.00
R8783:Mtus2	UTSW	5	148083051	missense	probably damaging	1.00
R8805:Mtus2	UTSW	5	148078493	missense	possibly damaging	0.58
R9204:Mtus2	UTSW	5	148301483	missense	probably damaging	1.00
R9210:Mtus2	UTSW	5	148077314	missense	probably benign	0.00
R9261:Mtus2	UTSW	5	148306643	nonsense	probably null
R9419:Mtus2	UTSW	5	148306641	missense	probably damaging	1.00
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
Z1176:Mtus2	UTSW	5	148076742	missense	probably benign	0.31
Z1176:Mtus2	UTSW	5	148077258	missense	probably benign	0.05
Z1177:Mtus2	UTSW	5	148204077	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGAGATTAGTTTATTCATGCCGG -3'
(R):5'- GGAAACAGTACACAGGGTCC -3'

Sequencing Primer
(F):5'- AGTTTATTCATGCCGGGACAC -3'
(R):5'- GTACACAGGGTCCCTAAGTATC -3'

Posted On

2014-10-30