Mutagenetix > Incidental Mutation

Incidental Mutation 'R1231:Mtus2'

152288

Institutional Source

Beutler Lab

Gene Symbol

Mtus2

Ensembl Gene

ENSMUSG00000029651

Gene Name

microtubule associated tumor suppressor candidate 2

Synonyms

C130038G02Rik, A730013O20Rik, 5730592G18Rik

MMRRC Submission

039300-MU

Accession Numbers

Essential gene?

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

Stock #

R1231 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147894130-148252875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148014198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 330 (S330R)

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: S330R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: S330R

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: 99.2%
3x: 98.3%
10x: 96.0%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	C	T	10: 50,699,756 (GRCm39)	P1860S	probably damaging	Het
Cabp5	T	C	7: 13,139,350 (GRCm39)	I125T	probably damaging	Het
Ccnd2	A	T	6: 127,107,363 (GRCm39)	S269T	probably benign	Het
Cmss1	C	T	16: 57,136,560 (GRCm39)	R104H	probably benign	Het
Dock9	A	T	14: 121,813,362 (GRCm39)	M1522K	possibly damaging	Het
Fcrl5	A	G	3: 87,349,486 (GRCm39)	H87R	probably benign	Het
Gabrr3	G	A	16: 59,281,763 (GRCm39)	D373N	probably benign	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Itgae	C	T	11: 73,010,205 (GRCm39)	T565I	probably benign	Het
Mocos	G	T	18: 24,812,758 (GRCm39)	A551S	probably benign	Het
Mtmr9	A	T	14: 63,765,640 (GRCm39)	N418K	possibly damaging	Het
Or2t1	A	T	14: 14,328,515 (GRCm38)	M135L	probably benign	Het
Psg16	T	A	7: 16,829,230 (GRCm39)	Y271*	probably null	Het
Psmd2	T	A	16: 20,474,335 (GRCm39)	M297K	possibly damaging	Het
Rnf220	A	T	4: 117,347,081 (GRCm39)	S110R	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
St8sia5	T	C	18: 77,320,502 (GRCm39)	Y49H	probably damaging	Het
Umodl1	A	G	17: 31,178,252 (GRCm39)	Y76C	probably damaging	Het
Urm1	G	T	2: 29,722,711 (GRCm39)	A15S	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
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
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'- TTCAGCGTCGAAGGAAAACCCC -3'
(R):5'- AACAGGAGCTGCTTGTCCGACATC -3'

Sequencing Primer
(F):5'- GAAGGAAAACCCCGGCCTC -3'
(R):5'- GGTGAGTCTAGTACCTGCCTC -3'

Posted On

2014-01-29