Mutagenetix > Incidental Mutation

Incidental Mutation 'R4667:Mtus2'

352022

Institutional Source

Beutler Lab

Gene Symbol

Mtus2

Ensembl Gene

ENSMUSG00000029651

Gene Name

microtubule associated tumor suppressor candidate 2

Synonyms

MMRRC Submission

042012-MU

Accession Numbers

Essential gene?

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

Stock #

R4667 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147957320-148316065 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148298260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1156 (S1156P)

Ref Sequence

ENSEMBL: ENSMUSP00000082694 (fasta)

Gene Model

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

AlphaFold

Q3UHD3

Predicted Effect

probably benign
Transcript: ENSMUST00000071878

SMART Domains

Protein: ENSMUSP00000071775
Gene: ENSMUSG00000029651

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 benign
Transcript: ENSMUST00000085554

SMART Domains

Protein: ENSMUSP00000082690
Gene: ENSMUSG00000029651

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085558
AA Change: S1156P

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: S1156P

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: ENSMUST00000110514
AA Change: S151P

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106143
Gene: ENSMUSG00000029651
AA Change: S151P

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 benign
Transcript: ENSMUST00000110515
AA Change: S151P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106144
Gene: ENSMUSG00000029651
AA Change: S151P

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 benign
Transcript: ENSMUST00000152105

SMART Domains

Protein: ENSMUSP00000123055
Gene: ENSMUSG00000029651

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,990,627 (GRCm38)	L147P	probably damaging	Het
Adgra3	T	A	5: 49,978,956 (GRCm38)	Y729F	possibly damaging	Het
Ago2	A	G	15: 73,146,416 (GRCm38)	Y58H	probably damaging	Het
Akap13	A	G	7: 75,729,094 (GRCm38)	T2128A	probably damaging	Het
Akap2	A	T	4: 57,855,655 (GRCm38)	D328V	possibly damaging	Het
Ankhd1	C	A	18: 36,648,021 (GRCm38)	P2042Q	possibly damaging	Het
Arhgef15	T	C	11: 68,954,561 (GRCm38)	K155R	probably benign	Het
Atp10b	T	C	11: 43,247,518 (GRCm38)	F1209L	probably damaging	Het
B130006D01Rik	A	T	11: 95,726,509 (GRCm38)		probably benign	Het
Bmpr2	T	C	1: 59,867,716 (GRCm38)	L656S	probably damaging	Het
Bnip5	G	T	17: 28,908,313 (GRCm38)	Q241K	possibly damaging	Het
Btbd17	A	G	11: 114,793,857 (GRCm38)	F119L	possibly damaging	Het
Ccdc191	G	T	16: 43,931,283 (GRCm38)	K267N	probably damaging	Het
Cd200l1	A	G	16: 45,444,163 (GRCm38)	S11P	probably benign	Het
Ceacam20	T	C	7: 19,986,027 (GRCm38)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528 (GRCm38)	I47V	probably benign	Het
Cemip2	C	T	19: 21,844,781 (GRCm38)	A1180V	probably benign	Het
Cemip2	G	A	19: 21,797,351 (GRCm38)	R119H	probably benign	Het
Chd9	T	C	8: 91,033,800 (GRCm38)	S2058P	possibly damaging	Het
Clcn6	T	C	4: 148,024,167 (GRCm38)	E135G	possibly damaging	Het
Cntn1	T	A	15: 92,295,079 (GRCm38)	N687K	probably damaging	Het
Col1a2	A	T	6: 4,512,412 (GRCm38)	M99L	unknown	Het
Cpeb2	T	C	5: 43,233,892 (GRCm38)		probably benign	Het
Csn1s2b	A	G	5: 87,822,311 (GRCm38)	T134A	possibly damaging	Het
Cst13	A	T	2: 148,823,081 (GRCm38)		probably benign	Het
Cyp2c66	T	A	19: 39,176,656 (GRCm38)	D360E	probably damaging	Het
Dhx8	A	G	11: 101,738,161 (GRCm38)	S179G	unknown	Het
Dip2b	A	G	15: 100,151,360 (GRCm38)	I212V	probably benign	Het
Dnah9	G	A	11: 66,155,531 (GRCm38)	H64Y	probably benign	Het
Dnal1	T	C	12: 84,136,700 (GRCm38)		probably benign	Het
Dse	T	G	10: 34,153,012 (GRCm38)	Y694S	probably damaging	Het
Dync2h1	T	C	9: 7,051,411 (GRCm38)	I3175V	probably benign	Het
Elf5	A	G	2: 103,449,060 (GRCm38)	N209D	probably damaging	Het
Elovl1	A	G	4: 118,430,787 (GRCm38)	Y40C	probably damaging	Het
Erp27	T	C	6: 136,908,152 (GRCm38)	E216G	possibly damaging	Het
F5	G	A	1: 164,174,186 (GRCm38)	V153I	probably benign	Het
Fam186a	G	A	15: 99,944,532 (GRCm38)	T1277I	possibly damaging	Het
Fam90a1a	A	T	8: 21,963,346 (GRCm38)	H239L	possibly damaging	Het
Fchsd2	G	T	7: 101,250,449 (GRCm38)	R334L	probably damaging	Het
Fermt3	T	C	19: 7,002,920 (GRCm38)	Y369C	probably damaging	Het
Fhod3	C	T	18: 25,066,338 (GRCm38)	P689S	probably benign	Het
Fnbp1l	G	T	3: 122,556,567 (GRCm38)	Q332K	probably benign	Het
Frem3	T	C	8: 80,663,420 (GRCm38)	S1767P	probably damaging	Het
Ggt5	T	C	10: 75,603,031 (GRCm38)	L121P	probably damaging	Het
Gphn	T	C	12: 78,454,817 (GRCm38)	S119P	probably damaging	Het
Herc2	A	G	7: 56,131,253 (GRCm38)	D1222G	probably damaging	Het
Hmx3	T	C	7: 131,544,382 (GRCm38)	I273T	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,181 (GRCm38)		probably benign	Het
Hspg2	C	T	4: 137,539,645 (GRCm38)	T1987I	possibly damaging	Het
Ighv1-22	T	A	12: 114,746,451 (GRCm38)	Q58L	probably damaging	Het
Ighv14-3	T	A	12: 114,060,255 (GRCm38)	I7F	probably benign	Het
Kcns3	C	A	12: 11,091,783 (GRCm38)	R305L	probably damaging	Het
Kcnu1	C	T	8: 25,910,921 (GRCm38)	A699V	possibly damaging	Het
Kif22	A	C	7: 127,033,328 (GRCm38)	L270W	probably damaging	Het
Lrp2	G	T	2: 69,489,298 (GRCm38)	H1960Q	probably benign	Het
Marchf7	C	T	2: 60,241,050 (GRCm38)	Q94*	probably null	Het
Mcoln3	A	T	3: 146,131,204 (GRCm38)	I264F	probably benign	Het
Mdn1	A	C	4: 32,679,572 (GRCm38)	T706P	probably damaging	Het
Mfsd2b	A	G	12: 4,867,636 (GRCm38)	C137R	probably benign	Het
Mmp25	A	G	17: 23,644,607 (GRCm38)	V83A	probably benign	Het
Mocos	T	C	18: 24,666,434 (GRCm38)	Y242H	probably benign	Het
Msh6	T	C	17: 87,984,806 (GRCm38)	S330P	possibly damaging	Het
Muc5b	G	A	7: 141,842,379 (GRCm38)	R124H	unknown	Het
Mybbp1a	G	A	11: 72,447,971 (GRCm38)	E775K	possibly damaging	Het
Myo10	A	G	15: 25,793,153 (GRCm38)	E1272G	possibly damaging	Het
Nars1	A	G	18: 64,505,231 (GRCm38)	S254P	possibly damaging	Het
Ncapd2	A	G	6: 125,184,518 (GRCm38)	I211T	possibly damaging	Het
Ncoa7	A	T	10: 30,690,790 (GRCm38)	W582R	probably damaging	Het
Npr3	T	A	15: 11,905,467 (GRCm38)	D58V	possibly damaging	Het
Nr3c1	G	T	18: 39,428,727 (GRCm38)	T430K	probably benign	Het
Odf2l	A	G	3: 145,128,040 (GRCm38)	T111A	probably benign	Het
Ogdh	G	T	11: 6,340,600 (GRCm38)	C406F	probably benign	Het
Olfml2a	T	G	2: 38,949,010 (GRCm38)	S190A	probably damaging	Het
Optn	T	C	2: 5,033,139 (GRCm38)	K415E	probably benign	Het
Or10n1	T	C	9: 39,613,738 (GRCm38)	M57T	probably damaging	Het
Or52a20	A	G	7: 103,716,638 (GRCm38)	T15A	probably benign	Het
Or8b12i	T	C	9: 20,171,098 (GRCm38)	I158V	probably benign	Het
Or8g52	G	T	9: 39,719,709 (GRCm38)	V161F	probably benign	Het
Perm1	C	A	4: 156,220,206 (GRCm38)	S803*	probably null	Het
Pex14	T	C	4: 148,984,085 (GRCm38)	T84A	probably benign	Het
Pih1d2	T	A	9: 50,620,952 (GRCm38)	Y103*	probably null	Het
Pikfyve	T	A	1: 65,250,273 (GRCm38)	C1235S	probably damaging	Het
Polr1a	A	G	6: 71,917,821 (GRCm38)	N171S	probably benign	Het
Prrx1	A	G	1: 163,254,047 (GRCm38)	S201P	probably benign	Het
Psme2b	A	T	11: 48,945,666 (GRCm38)	N151K	probably benign	Het
Serpinb5	A	T	1: 106,872,295 (GRCm38)	T72S	probably benign	Het
Sgsm1	A	G	5: 113,260,047 (GRCm38)		probably null	Het
Sipa1l2	T	C	8: 125,453,470 (GRCm38)	R1063G	possibly damaging	Het
Slc19a3	T	C	1: 83,022,799 (GRCm38)	T166A	probably benign	Het
Slc5a4b	T	C	10: 76,075,045 (GRCm38)	Y319C	possibly damaging	Het
Stard3nl	T	A	13: 19,376,519 (GRCm38)	N29Y	probably damaging	Het
Sult6b2	G	T	6: 142,801,695 (GRCm38)	C109*	probably null	Het
Tcf25	A	G	8: 123,397,025 (GRCm38)	E467G	possibly damaging	Het
Tmem177	A	T	1: 119,910,220 (GRCm38)	V243D	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tspan11	T	A	6: 127,943,715 (GRCm38)	C208*	probably null	Het
Ttc1	A	G	11: 43,745,317 (GRCm38)	V33A	probably benign	Het
Tut4	G	A	4: 108,495,159 (GRCm38)	E357K	probably damaging	Het
Uck1	T	A	2: 32,256,034 (GRCm38)	H283L	probably damaging	Het
Utrn	A	C	10: 12,698,053 (GRCm38)	V1091G	probably benign	Het
Vmn1r11	A	T	6: 57,137,498 (GRCm38)	H49L	probably damaging	Het
Vmn1r160	G	T	7: 22,872,053 (GRCm38)	S277I	probably benign	Het
Vmn1r18	A	T	6: 57,390,084 (GRCm38)	S162T	probably benign	Het
Vps37b	A	G	5: 124,010,732 (GRCm38)	L80P	probably damaging	Het
Wfdc3	T	C	2: 164,743,086 (GRCm38)	M1V	probably null	Het
Wrn	A	T	8: 33,324,338 (GRCm38)	N116K	probably benign	Het
Wscd2	G	T	5: 113,577,272 (GRCm38)	G391V	probably damaging	Het
Zfp286	A	G	11: 62,780,602 (GRCm38)	V215A	probably benign	Het
Zfp568	A	G	7: 30,023,277 (GRCm38)	H549R	probably damaging	Het

Other mutations in Mtus2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Mtus2	APN	5	148,077,009 (GRCm38)	splice site	probably null
IGL01911:Mtus2	APN	5	148,078,220 (GRCm38)	missense	probably benign	0.00
IGL01973:Mtus2	APN	5	148,303,476 (GRCm38)	splice site	probably benign
IGL02452:Mtus2	APN	5	148,077,663 (GRCm38)	missense	probably benign	0.01
IGL02476:Mtus2	APN	5	148,077,938 (GRCm38)	missense	probably benign	0.01
IGL02716:Mtus2	APN	5	148,236,310 (GRCm38)	missense	probably benign	0.05
IGL03194:Mtus2	APN	5	148,107,103 (GRCm38)	missense	probably damaging	1.00
rumblado	UTSW	5	148,306,708 (GRCm38)	nonsense	probably null
IGL02991:Mtus2	UTSW	5	148,313,500 (GRCm38)	missense	probably damaging	1.00
PIT4431001:Mtus2	UTSW	5	148,076,705 (GRCm38)	missense	probably benign	0.01
R0101:Mtus2	UTSW	5	148,083,035 (GRCm38)	missense	probably damaging	1.00
R0101:Mtus2	UTSW	5	148,083,035 (GRCm38)	missense	probably damaging	1.00
R0310:Mtus2	UTSW	5	148,107,019 (GRCm38)	missense	probably benign	0.17
R0729:Mtus2	UTSW	5	148,077,287 (GRCm38)	missense	probably benign	0.08
R0968:Mtus2	UTSW	5	148,078,184 (GRCm38)	missense	probably benign	0.09
R1231:Mtus2	UTSW	5	148,077,388 (GRCm38)	missense	probably benign	0.01
R1253:Mtus2	UTSW	5	148,303,570 (GRCm38)	nonsense	probably null
R1556:Mtus2	UTSW	5	148,077,388 (GRCm38)	missense	probably benign	0.01
R1561:Mtus2	UTSW	5	148,076,552 (GRCm38)	missense	probably benign	0.07
R1574:Mtus2	UTSW	5	148,076,552 (GRCm38)	missense	probably benign	0.07
R1750:Mtus2	UTSW	5	148,277,633 (GRCm38)	missense	probably damaging	0.97
R2318:Mtus2	UTSW	5	148,107,082 (GRCm38)	nonsense	probably null
R2327:Mtus2	UTSW	5	148,077,915 (GRCm38)	missense	probably benign	0.00
R3153:Mtus2	UTSW	5	148,083,060 (GRCm38)	missense	probably damaging	1.00
R3154:Mtus2	UTSW	5	148,303,273 (GRCm38)	intron	probably benign
R3158:Mtus2	UTSW	5	148,231,827 (GRCm38)	missense	probably damaging	1.00
R3548:Mtus2	UTSW	5	148,295,506 (GRCm38)	missense	probably damaging	1.00
R3861:Mtus2	UTSW	5	148,313,413 (GRCm38)	missense	probably damaging	1.00
R4395:Mtus2	UTSW	5	148,076,622 (GRCm38)	missense	probably benign	0.17
R4396:Mtus2	UTSW	5	148,203,938 (GRCm38)	missense	possibly damaging	0.81
R4887:Mtus2	UTSW	5	148,077,103 (GRCm38)	nonsense	probably null
R4931:Mtus2	UTSW	5	148,077,416 (GRCm38)	missense	probably benign	0.09
R5097:Mtus2	UTSW	5	148,295,582 (GRCm38)	missense	probably damaging	0.99
R5318:Mtus2	UTSW	5	148,076,572 (GRCm38)	missense	probably benign	0.05
R5372:Mtus2	UTSW	5	148,313,412 (GRCm38)	missense	probably damaging	1.00
R5388:Mtus2	UTSW	5	148,306,708 (GRCm38)	nonsense	probably null
R5622:Mtus2	UTSW	5	148,078,434 (GRCm38)	missense	probably benign	0.09
R6009:Mtus2	UTSW	5	148,306,652 (GRCm38)	missense	probably damaging	1.00
R6379:Mtus2	UTSW	5	148,077,198 (GRCm38)	missense	probably benign	0.00
R6409:Mtus2	UTSW	5	148,077,615 (GRCm38)	missense	probably benign
R6527:Mtus2	UTSW	5	148,277,598 (GRCm38)	critical splice acceptor site	probably null
R6853:Mtus2	UTSW	5	148,107,011 (GRCm38)	missense	probably damaging	1.00
R7001:Mtus2	UTSW	5	148,277,628 (GRCm38)	missense	probably damaging	1.00
R7187:Mtus2	UTSW	5	148,076,705 (GRCm38)	missense	probably benign	0.01
R7276:Mtus2	UTSW	5	148,076,558 (GRCm38)	missense	probably benign
R7594:Mtus2	UTSW	5	148,077,406 (GRCm38)	missense	probably benign	0.44
R7790:Mtus2	UTSW	5	148,078,188 (GRCm38)	missense	probably benign	0.09
R7967:Mtus2	UTSW	5	148,077,846 (GRCm38)	missense	probably benign	0.32
R7987:Mtus2	UTSW	5	148,232,026 (GRCm38)	splice site	probably null
R8112:Mtus2	UTSW	5	148,076,903 (GRCm38)	nonsense	probably null
R8273:Mtus2	UTSW	5	148,107,005 (GRCm38)	missense	probably damaging	1.00
R8527:Mtus2	UTSW	5	148,303,598 (GRCm38)	missense	probably damaging	1.00
R8542:Mtus2	UTSW	5	148,303,598 (GRCm38)	missense	probably damaging	1.00
R8783:Mtus2	UTSW	5	148,083,051 (GRCm38)	missense	probably damaging	1.00
R8805:Mtus2	UTSW	5	148,078,493 (GRCm38)	missense	possibly damaging	0.58
R9204:Mtus2	UTSW	5	148,301,483 (GRCm38)	missense	probably damaging	1.00
R9210:Mtus2	UTSW	5	148,077,314 (GRCm38)	missense	probably benign	0.00
R9261:Mtus2	UTSW	5	148,306,643 (GRCm38)	nonsense	probably null
R9419:Mtus2	UTSW	5	148,306,641 (GRCm38)	missense	probably damaging	1.00
R9477:Mtus2	UTSW	5	148,077,930 (GRCm38)	missense	probably benign
R9483:Mtus2	UTSW	5	148,295,490 (GRCm38)	missense	possibly damaging	0.80
R9563:Mtus2	UTSW	5	148,313,407 (GRCm38)	missense
R9643:Mtus2	UTSW	5	148,077,215 (GRCm38)	missense	probably benign	0.04
R9716:Mtus2	UTSW	5	148,076,654 (GRCm38)	missense	possibly damaging	0.82
R9745:Mtus2	UTSW	5	148,076,501 (GRCm38)	missense	possibly damaging	0.81
X0017:Mtus2	UTSW	5	148,277,600 (GRCm38)	missense	possibly damaging	0.83
X0028:Mtus2	UTSW	5	148,077,318 (GRCm38)	missense	probably benign	0.03
Z1088:Mtus2	UTSW	5	148,303,263 (GRCm38)	intron	probably benign
Z1176:Mtus2	UTSW	5	148,077,258 (GRCm38)	missense	probably benign	0.05
Z1176:Mtus2	UTSW	5	148,076,742 (GRCm38)	missense	probably benign	0.31
Z1177:Mtus2	UTSW	5	148,204,077 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAAGTCCAATCATCACAGTC -3'
(R):5'- TAGTCATGAGGCGCAGTGAC -3'

Sequencing Primer
(F):5'- CAGTCAATTTCACATGAGCAGAG -3'
(R):5'- CTCTGTGAAGAGAGAACCATGTCTTC -3'

Posted On

2015-10-08