Mutagenetix > Incidental Mutation

Incidental Mutation 'R3158:Mtus2'

263580

Institutional Source

Beutler Lab

Gene Symbol

Mtus2

Ensembl Gene

ENSMUSG00000029651

Gene Name

microtubule associated tumor suppressor candidate 2

Synonyms

C130038G02Rik, A730013O20Rik, 5730592G18Rik

MMRRC Submission

040609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R3158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147894130-148252875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148168637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 950 (H950R)

Ref Sequence

ENSEMBL: ENSMUSP00000082694 (fasta)

Gene Model

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

AlphaFold

Q3UHD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000085558
AA Change: H950R

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

SMART Domains

Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: H950R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201594

Meta Mutation Damage Score

0.1986

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc2	A	T	11: 101,220,102 (GRCm39)	N696I	probably damaging	Het
Ccr4	G	T	9: 114,321,350 (GRCm39)	N238K	probably benign	Het
Cd300e	A	C	11: 114,952,849 (GRCm39)	M1R	probably null	Het
Cep95	A	G	11: 106,700,013 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,834,918 (GRCm39)	I1096V	probably benign	Het
Clca4b	C	A	3: 144,617,878 (GRCm39)	V742L	probably benign	Het
Diaph3	A	T	14: 86,893,892 (GRCm39)	I39N	possibly damaging	Het
Dll3	A	T	7: 27,993,520 (GRCm39)	D566E	possibly damaging	Het
Dmpk	A	G	7: 18,826,944 (GRCm39)	T579A	probably benign	Het
E330034G19Rik	A	T	14: 24,346,965 (GRCm39)	Y84F	possibly damaging	Het
Eya1	G	A	1: 14,374,691 (GRCm39)		probably benign	Het
Fat4	A	G	3: 38,944,940 (GRCm39)	T1278A	possibly damaging	Het
Galnt12	A	G	4: 47,104,264 (GRCm39)	D174G	probably damaging	Het
Gm20939	T	A	17: 95,184,721 (GRCm39)	H456Q	probably damaging	Het
Gm7853	A	G	14: 35,811,358 (GRCm39)		noncoding transcript	Het
Hsd3b5	G	A	3: 98,529,375 (GRCm39)	A85V	probably benign	Het
Itga11	A	G	9: 62,676,560 (GRCm39)	K916R	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Krt6a	T	C	15: 101,599,801 (GRCm39)	Y437C	probably damaging	Het
Lrp5	A	G	19: 3,665,849 (GRCm39)	S707P	probably damaging	Het
Med14	G	A	X: 12,550,330 (GRCm39)		probably benign	Het
Mmp11	C	T	10: 75,762,948 (GRCm39)		probably benign	Het
Myo1g	G	T	11: 6,464,527 (GRCm39)	T511K	possibly damaging	Het
Myo7a	A	G	7: 97,701,499 (GRCm39)	F2154S	probably damaging	Het
Or11h4	A	G	14: 50,974,271 (GRCm39)	V116A	probably benign	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or8h8	C	T	2: 86,752,950 (GRCm39)	E309K	probably benign	Het
Prss52	G	T	14: 64,350,992 (GRCm39)	W259L	probably damaging	Het
Sbk2	G	A	7: 4,960,526 (GRCm39)	R215*	probably null	Het
Sectm1a	A	G	11: 120,959,603 (GRCm39)	I175T	probably benign	Het
Smu1	T	A	4: 40,754,529 (GRCm39)	R123S	possibly damaging	Het
Stk3	A	G	15: 35,008,387 (GRCm39)	S178P	possibly damaging	Het
Tle6	T	C	10: 81,431,038 (GRCm39)		probably null	Het
Vmn2r37	C	T	7: 9,220,713 (GRCm39)	M383I	probably benign	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
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
R6409:Mtus2	UTSW	5	148,014,425 (GRCm39)	missense	probably benign
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

PCR Primer
(F):5'- CTTTTCCACAGCAGTTTGGG -3'
(R):5'- CATGAGGCAATTCTCCTCGTC -3'

Sequencing Primer
(F):5'- CACAGCAGTTTGGGTTACAGCTC -3'
(R):5'- CAGAACTCTGGGATGCGG -3'

Posted On

2015-02-05