Mutagenetix > Incidental Mutation

Incidental Mutation 'R6409:Mtus2'

514773

Institutional Source

Beutler Lab

Gene Symbol

Mtus2

Ensembl Gene

ENSMUSG00000029651

Gene Name

microtubule associated tumor suppressor candidate 2

Synonyms

C130038G02Rik, A730013O20Rik, 5730592G18Rik

MMRRC Submission

044554-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R6409 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

147894130-148252875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148014425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 406 (V406A)

Ref Sequence

ENSEMBL: ENSMUSP00000082694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085558] [ENSMUST00000129092]

AlphaFold

Q3UHD3

Predicted Effect

probably benign
Transcript: ENSMUST00000085558
AA Change: V406A

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

SMART Domains

Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: V406A

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

probably benign
Transcript: ENSMUST00000129092

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	T	11: 119,902,558 (GRCm39)	Q556K	probably benign	Het
Adgrf3	A	G	5: 30,402,312 (GRCm39)	V572A	probably damaging	Het
Ahnak	G	A	19: 8,986,938 (GRCm39)	V2741M	probably benign	Het
Ascc3	T	C	10: 50,721,676 (GRCm39)	V2043A	probably benign	Het
B3glct	C	T	5: 149,658,916 (GRCm39)	R239C	probably benign	Het
Cacna2d4	T	A	6: 119,259,189 (GRCm39)	V626E	probably damaging	Het
Cdcp3	G	A	7: 130,863,800 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,803,354 (GRCm39)	N1563D	probably benign	Het
Duox2	G	C	2: 122,115,148 (GRCm39)	H1110D	probably damaging	Het
Inppl1	A	T	7: 101,478,168 (GRCm39)	F648I	probably damaging	Het
Mefv	C	A	16: 3,528,657 (GRCm39)		probably null	Het
Ms4a4b	T	C	19: 11,438,724 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,835,798 (GRCm39)	R554G	probably null	Het
Or1x2	A	G	11: 50,918,015 (GRCm39)	Y62C	probably damaging	Het
Or4d10	C	T	19: 12,052,111 (GRCm39)		probably benign	Het
Or8h8	A	T	2: 86,753,515 (GRCm39)	Y120*	probably null	Het
Pde10a	A	G	17: 9,168,270 (GRCm39)	D246G	probably damaging	Het
Pmm1	T	C	15: 81,845,008 (GRCm39)	T9A	probably benign	Het
Pramel19	C	T	4: 101,797,874 (GRCm39)	Q91*	probably null	Het
Psg18	T	C	7: 18,087,446 (GRCm39)	M71V	probably benign	Het
Rapgef4	A	G	2: 72,008,581 (GRCm39)	H253R	probably benign	Het
Rfc4	T	C	16: 22,932,823 (GRCm39)	*371W	probably null	Het
Rgs18	T	A	1: 144,650,931 (GRCm39)	K17*	probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sertm1	T	C	3: 54,806,788 (GRCm39)	Y79C	probably benign	Het
Sfrp1	T	C	8: 23,907,394 (GRCm39)	I198T	possibly damaging	Het
Slc15a2	T	A	16: 36,582,232 (GRCm39)	I254F	probably benign	Het
Slc29a4	A	G	5: 142,697,826 (GRCm39)	D93G	probably damaging	Het
Smo	T	C	6: 29,736,113 (GRCm39)	L35S	unknown	Het
Tbc1d8	A	G	1: 39,411,669 (GRCm39)	S1056P	probably benign	Het
Ttll9	A	G	2: 152,841,261 (GRCm39)	D286G	probably damaging	Het
Vmn2r14	A	G	5: 109,364,096 (GRCm39)	Y607H	probably benign	Het
Vps8	T	A	16: 21,297,189 (GRCm39)	C564S	probably benign	Het
Zc3h12d	A	G	10: 7,743,082 (GRCm39)	H284R	probably benign	Het
Zfp106	A	T	2: 120,362,585 (GRCm39)	S79T	probably damaging	Het

Other mutations in Mtus2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Mtus2	APN	5	148,013,819 (GRCm39)	splice site	probably null
IGL01911:Mtus2	APN	5	148,015,030 (GRCm39)	missense	probably benign	0.00
IGL01973:Mtus2	APN	5	148,240,286 (GRCm39)	splice site	probably benign
IGL02452:Mtus2	APN	5	148,014,473 (GRCm39)	missense	probably benign	0.01
IGL02476:Mtus2	APN	5	148,014,748 (GRCm39)	missense	probably benign	0.01
IGL02716:Mtus2	APN	5	148,173,120 (GRCm39)	missense	probably benign	0.05
IGL03194:Mtus2	APN	5	148,043,913 (GRCm39)	missense	probably damaging	1.00
rumblado	UTSW	5	148,243,518 (GRCm39)	nonsense	probably null
IGL02991:Mtus2	UTSW	5	148,250,310 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Mtus2	UTSW	5	148,013,515 (GRCm39)	missense	probably benign	0.01
R0101:Mtus2	UTSW	5	148,019,845 (GRCm39)	missense	probably damaging	1.00
R0101:Mtus2	UTSW	5	148,019,845 (GRCm39)	missense	probably damaging	1.00
R0310:Mtus2	UTSW	5	148,043,829 (GRCm39)	missense	probably benign	0.17
R0729:Mtus2	UTSW	5	148,014,097 (GRCm39)	missense	probably benign	0.08
R0968:Mtus2	UTSW	5	148,014,994 (GRCm39)	missense	probably benign	0.09
R1231:Mtus2	UTSW	5	148,014,198 (GRCm39)	missense	probably benign	0.01
R1253:Mtus2	UTSW	5	148,240,380 (GRCm39)	nonsense	probably null
R1556:Mtus2	UTSW	5	148,014,198 (GRCm39)	missense	probably benign	0.01
R1561:Mtus2	UTSW	5	148,013,362 (GRCm39)	missense	probably benign	0.07
R1574:Mtus2	UTSW	5	148,013,362 (GRCm39)	missense	probably benign	0.07
R1750:Mtus2	UTSW	5	148,214,443 (GRCm39)	missense	probably damaging	0.97
R2318:Mtus2	UTSW	5	148,043,892 (GRCm39)	nonsense	probably null
R2327:Mtus2	UTSW	5	148,014,725 (GRCm39)	missense	probably benign	0.00
R3153:Mtus2	UTSW	5	148,019,870 (GRCm39)	missense	probably damaging	1.00
R3154:Mtus2	UTSW	5	148,240,083 (GRCm39)	intron	probably benign
R3158:Mtus2	UTSW	5	148,168,637 (GRCm39)	missense	probably damaging	1.00
R3548:Mtus2	UTSW	5	148,232,316 (GRCm39)	missense	probably damaging	1.00
R3861:Mtus2	UTSW	5	148,250,223 (GRCm39)	missense	probably damaging	1.00
R4395:Mtus2	UTSW	5	148,013,432 (GRCm39)	missense	probably benign	0.17
R4396:Mtus2	UTSW	5	148,140,748 (GRCm39)	missense	possibly damaging	0.81
R4667:Mtus2	UTSW	5	148,235,070 (GRCm39)	missense	possibly damaging	0.64
R4887:Mtus2	UTSW	5	148,013,913 (GRCm39)	nonsense	probably null
R4931:Mtus2	UTSW	5	148,014,226 (GRCm39)	missense	probably benign	0.09
R5097:Mtus2	UTSW	5	148,232,392 (GRCm39)	missense	probably damaging	0.99
R5318:Mtus2	UTSW	5	148,013,382 (GRCm39)	missense	probably benign	0.05
R5372:Mtus2	UTSW	5	148,250,222 (GRCm39)	missense	probably damaging	1.00
R5388:Mtus2	UTSW	5	148,243,518 (GRCm39)	nonsense	probably null
R5622:Mtus2	UTSW	5	148,015,244 (GRCm39)	missense	probably benign	0.09
R6009:Mtus2	UTSW	5	148,243,462 (GRCm39)	missense	probably damaging	1.00
R6379:Mtus2	UTSW	5	148,014,008 (GRCm39)	missense	probably benign	0.00
R6527:Mtus2	UTSW	5	148,214,408 (GRCm39)	critical splice acceptor site	probably null
R6853:Mtus2	UTSW	5	148,043,821 (GRCm39)	missense	probably damaging	1.00
R7001:Mtus2	UTSW	5	148,214,438 (GRCm39)	missense	probably damaging	1.00
R7187:Mtus2	UTSW	5	148,013,515 (GRCm39)	missense	probably benign	0.01
R7276:Mtus2	UTSW	5	148,013,368 (GRCm39)	missense	probably benign
R7594:Mtus2	UTSW	5	148,014,216 (GRCm39)	missense	probably benign	0.44
R7790:Mtus2	UTSW	5	148,014,998 (GRCm39)	missense	probably benign	0.09
R7967:Mtus2	UTSW	5	148,014,656 (GRCm39)	missense	probably benign	0.32
R7987:Mtus2	UTSW	5	148,168,836 (GRCm39)	splice site	probably null
R8112:Mtus2	UTSW	5	148,013,713 (GRCm39)	nonsense	probably null
R8273:Mtus2	UTSW	5	148,043,815 (GRCm39)	missense	probably damaging	1.00
R8527:Mtus2	UTSW	5	148,240,408 (GRCm39)	missense	probably damaging	1.00
R8542:Mtus2	UTSW	5	148,240,408 (GRCm39)	missense	probably damaging	1.00
R8783:Mtus2	UTSW	5	148,019,861 (GRCm39)	missense	probably damaging	1.00
R8805:Mtus2	UTSW	5	148,015,303 (GRCm39)	missense	possibly damaging	0.58
R9204:Mtus2	UTSW	5	148,238,293 (GRCm39)	missense	probably damaging	1.00
R9210:Mtus2	UTSW	5	148,014,124 (GRCm39)	missense	probably benign	0.00
R9261:Mtus2	UTSW	5	148,243,453 (GRCm39)	nonsense	probably null
R9419:Mtus2	UTSW	5	148,243,451 (GRCm39)	missense	probably damaging	1.00
R9477:Mtus2	UTSW	5	148,014,740 (GRCm39)	missense	probably benign
R9483:Mtus2	UTSW	5	148,232,300 (GRCm39)	missense	possibly damaging	0.80
R9563:Mtus2	UTSW	5	148,250,217 (GRCm39)	missense
R9643:Mtus2	UTSW	5	148,014,025 (GRCm39)	missense	probably benign	0.04
R9716:Mtus2	UTSW	5	148,013,464 (GRCm39)	missense	possibly damaging	0.82
R9745:Mtus2	UTSW	5	148,013,311 (GRCm39)	missense	possibly damaging	0.81
X0017:Mtus2	UTSW	5	148,214,410 (GRCm39)	missense	possibly damaging	0.83
X0028:Mtus2	UTSW	5	148,014,128 (GRCm39)	missense	probably benign	0.03
Z1088:Mtus2	UTSW	5	148,240,073 (GRCm39)	intron	probably benign
Z1176:Mtus2	UTSW	5	148,014,068 (GRCm39)	missense	probably benign	0.05
Z1176:Mtus2	UTSW	5	148,013,552 (GRCm39)	missense	probably benign	0.31
Z1177:Mtus2	UTSW	5	148,140,887 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2018-05-04