Mutagenetix > Incidental Mutation

Incidental Mutation 'R1253:Mtus2'

151839

Institutional Source

Beutler Lab

Gene Symbol

Mtus2

Ensembl Gene

ENSMUSG00000029651

Gene Name

microtubule associated tumor suppressor candidate 2

Synonyms

C130038G02Rik, A730013O20Rik, 5730592G18Rik

MMRRC Submission

039320-MU

Accession Numbers

Essential gene?

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

Stock #

R1253 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147894130-148252875 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 148240380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 76 (Q76*)

Ref Sequence

ENSEMBL: ENSMUSP00000123055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071878] [ENSMUST00000085554] [ENSMUST00000085558] [ENSMUST00000110514] [ENSMUST00000110515] [ENSMUST00000146425] [ENSMUST00000152105]

AlphaFold

Q3UHD3

Predicted Effect

unknown
Transcript: ENSMUST00000071878
AA Change: A177V

SMART Domains

Protein: ENSMUSP00000071775
Gene: ENSMUSG00000029651
AA Change: A177V

Domain	Start	End	E-Value	Type
coiled coil region	19	75	N/A	INTRINSIC
low complexity region	161	181	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000085554
AA Change: Q39*

SMART Domains

Protein: ENSMUSP00000082690
Gene: ENSMUSG00000029651
AA Change: Q39*

Domain	Start	End	E-Value	Type
coiled coil region	15	118	N/A	INTRINSIC
low complexity region	131	148	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000085558
AA Change: Q1240*

SMART Domains

Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: Q1240*

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 null
Transcript: ENSMUST00000110514
AA Change: Q202*

SMART Domains

Protein: ENSMUSP00000106143
Gene: ENSMUSG00000029651
AA Change: Q202*

Domain	Start	End	E-Value	Type
coiled coil region	19	75	N/A	INTRINSIC
coiled coil region	144	281	N/A	INTRINSIC
low complexity region	294	311	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110515
AA Change: Q235*

SMART Domains

Protein: ENSMUSP00000106144
Gene: ENSMUSG00000029651
AA Change: Q235*

Domain	Start	End	E-Value	Type
coiled coil region	19	75	N/A	INTRINSIC
coiled coil region	144	314	N/A	INTRINSIC
low complexity region	327	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146425

Predicted Effect

probably null
Transcript: ENSMUST00000152105
AA Change: Q76*

SMART Domains

Protein: ENSMUSP00000123055
Gene: ENSMUSG00000029651
AA Change: Q76*

Domain	Start	End	E-Value	Type
low complexity region	40	51	N/A	INTRINSIC
coiled coil region	52	155	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	G	A	6: 83,499,869 (GRCm39)	T127I	probably damaging	Het
Aph1b	T	A	9: 66,697,931 (GRCm39)	K102*	probably null	Het
Caskin1	A	G	17: 24,724,047 (GRCm39)	K945R	probably damaging	Het
Ccdc137	C	A	11: 120,349,005 (GRCm39)	A12E	probably benign	Het
Cdhr1	A	G	14: 36,801,582 (GRCm39)	M787T	probably benign	Het
Cic	T	A	7: 24,990,373 (GRCm39)	V1958E	probably damaging	Het
Col6a6	T	A	9: 105,651,502 (GRCm39)	I1170F	probably null	Het
Cyp2c54	T	A	19: 40,034,629 (GRCm39)	Y347F	probably damaging	Het
Kntc1	AGTGT	AGT	5: 123,948,925 (GRCm39)		probably null	Het
Large1	T	C	8: 73,775,050 (GRCm39)	Y220C	probably damaging	Het
Macf1	A	T	4: 123,351,760 (GRCm39)	D1592E	probably damaging	Het
Olfm3	A	T	3: 114,916,418 (GRCm39)	D450V	probably damaging	Het
Or1l4b	T	A	2: 37,036,884 (GRCm39)	V220D	possibly damaging	Het
Or4k6	A	G	14: 50,475,581 (GRCm39)	C254R	probably damaging	Het
Or5ae1	T	A	7: 84,565,917 (GRCm39)	I310K	probably benign	Het
Ormdl1	G	A	1: 53,344,681 (GRCm39)	R81K	possibly damaging	Het
Pcdhb12	G	A	18: 37,568,874 (GRCm39)	V7I	possibly damaging	Het
Ptprt	A	G	2: 162,120,146 (GRCm39)	I107T	probably damaging	Het
Rbm27	A	C	18: 42,434,839 (GRCm39)	D301A	probably damaging	Het
Rexo2	A	T	9: 48,380,232 (GRCm39)	I200N	probably damaging	Het
Rtn4ip1	A	T	10: 43,786,867 (GRCm39)	I192L	probably benign	Het
Serpinb9e	T	C	13: 33,439,102 (GRCm39)	F176S	possibly damaging	Het
Sorcs3	C	A	19: 48,195,175 (GRCm39)	A186E	possibly damaging	Het
Spata31	A	G	13: 65,069,838 (GRCm39)	Y662C	probably benign	Het
Sphkap	G	A	1: 83,256,619 (GRCm39)	P377S	possibly damaging	Het
Srrt	T	C	5: 137,298,598 (GRCm39)	K222R	probably benign	Het
Tas2r129	T	C	6: 132,928,999 (GRCm39)	I312T	probably benign	Het
Thbs4	G	T	13: 92,913,413 (GRCm39)	P169Q	probably benign	Het
Tmtc3	T	C	10: 100,287,252 (GRCm39)	M515V	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r92	T	A	17: 18,387,028 (GRCm39)	N122K	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
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
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'- ACATTGCGGAAGCACGGCAATC -3'
(R):5'- TCGTCTTAGTGGTGGAAGGACACAG -3'

Sequencing Primer
(F):5'- ACGGCAATCACACTGGG -3'
(R):5'- GGACTCCTTTCAGAAGTCCTG -3'

Posted On

2014-01-29