Mutagenetix > Incidental Mutation

Incidental Mutation 'R0310:Mtus2'

25127

Institutional Source

Beutler Lab

Gene Symbol

Mtus2

Ensembl Gene

ENSMUSG00000029651

Gene Name

microtubule associated tumor suppressor candidate 2

Synonyms

C130038G02Rik, A730013O20Rik, 5730592G18Rik

MMRRC Submission

038520-MU

Accession Numbers

Essential gene?

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

Stock #

R0310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147894130-148252875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148043829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 806 (S806P)

Ref Sequence

ENSEMBL: ENSMUSP00000082694 (fasta)

Gene Model

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

AlphaFold

Q3UHD3

Predicted Effect

probably benign
Transcript: ENSMUST00000085558
AA Change: S806P

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: S806P

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: ENSMUST00000128423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149336

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 93.3%
20x: 82.5%

Validation Efficiency

99% (113/114)

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,336,971 (GRCm39)	T92P	probably damaging	Het
Abca13	T	C	11: 9,243,810 (GRCm39)	V1891A	probably benign	Het
Abcc1	T	A	16: 14,228,791 (GRCm39)	I346N	probably damaging	Het
Afdn	G	T	17: 14,105,770 (GRCm39)		probably null	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,264,678 (GRCm39)	D507G	probably damaging	Het
Akap8	A	T	17: 32,535,234 (GRCm39)	M260K	possibly damaging	Het
Akr1b8	T	C	6: 34,342,194 (GRCm39)	V265A	probably benign	Het
Alpk3	C	G	7: 80,728,358 (GRCm39)	P496R	possibly damaging	Het
Ankrd13b	A	G	11: 77,363,571 (GRCm39)	V249A	possibly damaging	Het
Arid4a	T	C	12: 71,122,604 (GRCm39)	V995A	probably benign	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
Atad2	G	A	15: 57,977,653 (GRCm39)	A499V	probably damaging	Het
Barhl2	G	T	5: 106,605,253 (GRCm39)	A152E	possibly damaging	Het
Bbs12	T	A	3: 37,375,194 (GRCm39)	D547E	probably damaging	Het
Btaf1	A	G	19: 36,981,934 (GRCm39)	M1655V	probably damaging	Het
Ccdc50	T	A	16: 27,225,408 (GRCm39)	H40Q	probably damaging	Het
Ccr9	A	T	9: 123,603,617 (GRCm39)		probably benign	Het
Cdh15	A	G	8: 123,592,175 (GRCm39)	D654G	probably damaging	Het
Cebpz	T	C	17: 79,233,553 (GRCm39)	D758G	probably damaging	Het
Cgn	C	T	3: 94,672,960 (GRCm39)	R906K	possibly damaging	Het
Chil3	T	A	3: 106,067,839 (GRCm39)	M109L	possibly damaging	Het
Cntnap4	A	T	8: 113,569,148 (GRCm39)		probably null	Het
Cyp4f18	C	T	8: 72,754,856 (GRCm39)		probably benign	Het
Daam2	A	G	17: 49,770,952 (GRCm39)		probably null	Het
Ddost	T	A	4: 138,037,922 (GRCm39)	H220Q	probably benign	Het
Dennd2a	C	T	6: 39,441,135 (GRCm39)		probably benign	Het
Depdc1b	G	A	13: 108,510,375 (GRCm39)	V296I	possibly damaging	Het
Dnaaf4	A	T	9: 72,879,618 (GRCm39)	D386V	probably damaging	Het
Dnah5	A	T	15: 28,299,256 (GRCm39)	R1539S	probably benign	Het
Dusp22	T	C	13: 30,889,641 (GRCm39)	I74T	probably damaging	Het
Epc1	A	G	18: 6,440,202 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,961,301 (GRCm39)	I845V	probably benign	Het
Fanci	C	T	7: 79,057,165 (GRCm39)		probably benign	Het
Fbn1	T	A	2: 125,205,564 (GRCm39)	E1104V	probably damaging	Het
Fbxo8	T	A	8: 57,043,132 (GRCm39)	F205L	probably damaging	Het
Fcgbpl1	G	T	7: 27,841,699 (GRCm39)	V545L	probably benign	Het
Fetub	T	C	16: 22,748,506 (GRCm39)		probably benign	Het
Frs3	T	C	17: 48,014,747 (GRCm39)	V480A	probably benign	Het
Gne	C	A	4: 44,060,157 (GRCm39)	E79*	probably null	Het
Hrc	T	A	7: 44,985,921 (GRCm39)	H357Q	probably benign	Het
Idh1	T	C	1: 65,201,079 (GRCm39)	M291V	probably damaging	Het
Il22b	T	A	10: 118,129,090 (GRCm39)	H133L	probably benign	Het
Ino80b	T	C	6: 83,101,072 (GRCm39)	E165G	probably damaging	Het
Inppl1	A	T	7: 101,477,706 (GRCm39)		probably benign	Het
Ints15	G	T	5: 143,293,643 (GRCm39)	T278K	probably benign	Het
Ip6k2	T	C	9: 108,676,432 (GRCm39)		probably benign	Het
Itga11	A	T	9: 62,667,628 (GRCm39)	I654F	probably damaging	Het
Jag2	G	T	12: 112,876,997 (GRCm39)		probably benign	Het
Katna1	G	T	10: 7,619,513 (GRCm39)		probably benign	Het
Kcnh4	G	T	11: 100,636,995 (GRCm39)	S707Y	probably benign	Het
Kcnn2	T	G	18: 45,693,585 (GRCm39)	L387R	probably damaging	Het
Khnyn	A	G	14: 56,125,425 (GRCm39)	T503A	probably damaging	Het
Lama5	G	T	2: 179,823,359 (GRCm39)		probably benign	Het
Lmbr1l	A	T	15: 98,806,654 (GRCm39)		probably benign	Het
Mast4	A	T	13: 102,890,669 (GRCm39)	S870T	possibly damaging	Het
Med1	A	G	11: 98,058,400 (GRCm39)	Y266H	probably benign	Het
Med13	A	T	11: 86,236,829 (GRCm39)	N109K	probably benign	Het
Mgam	T	C	6: 40,737,969 (GRCm39)		probably benign	Het
Mmp8	A	G	9: 7,561,455 (GRCm39)	Q153R	probably benign	Het
Mpeg1	C	A	19: 12,439,055 (GRCm39)	T171N	probably benign	Het
Naip2	T	A	13: 100,285,350 (GRCm39)	E1226V	probably damaging	Het
Naip6	A	G	13: 100,444,721 (GRCm39)	F246L	possibly damaging	Het
Nav3	T	C	10: 109,602,989 (GRCm39)	I1187V	possibly damaging	Het
Nbeal1	T	C	1: 60,344,529 (GRCm39)		probably benign	Het
Nbeal2	C	A	9: 110,467,231 (GRCm39)	V653L	probably damaging	Het
Ndufa9	G	T	6: 126,804,495 (GRCm39)		probably benign	Het
Nlrp5	G	T	7: 23,129,582 (GRCm39)	C883F	probably damaging	Het
Nr0b2	C	A	4: 133,283,303 (GRCm39)		probably null	Het
Or1m1	T	A	9: 18,666,629 (GRCm39)	M101L	possibly damaging	Het
Or6c209	T	A	10: 129,483,600 (GRCm39)	V201E	probably damaging	Het
Or6c69c	G	A	10: 129,910,692 (GRCm39)	V138I	probably benign	Het
Or8b101	T	A	9: 38,020,782 (GRCm39)	S267T	possibly damaging	Het
Pkhd1	A	T	1: 20,620,046 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,386,134 (GRCm39)		probably benign	Het
Ppm1l	A	G	3: 69,456,794 (GRCm39)	K237R	probably benign	Het
Ppp1r18	T	C	17: 36,184,603 (GRCm39)		probably benign	Het
Ptpn3	A	T	4: 57,204,958 (GRCm39)	D734E	probably benign	Het
Pxdn	T	C	12: 30,065,528 (GRCm39)	C1283R	probably damaging	Het
Rbm12	A	G	2: 155,937,644 (GRCm39)		probably benign	Het
Rttn	A	T	18: 89,027,584 (GRCm39)		probably benign	Het
Sgsm1	G	T	5: 113,411,571 (GRCm39)	H431Q	probably benign	Het
Siah3	A	G	14: 75,763,367 (GRCm39)	N206S	possibly damaging	Het
Slc22a15	G	T	3: 101,767,827 (GRCm39)	D521E	probably benign	Het
Sprr2k	A	T	3: 92,340,770 (GRCm39)		probably benign	Het
Stab2	G	A	10: 86,803,477 (GRCm39)		probably benign	Het
Sval3	T	A	6: 41,945,120 (GRCm39)	L16Q	probably damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Tk1	T	C	11: 117,707,921 (GRCm39)		probably benign	Het
Tlk2	C	A	11: 105,145,799 (GRCm39)	A335E	probably benign	Het
Tmtc1	T	C	6: 148,151,079 (GRCm39)	K659E	probably benign	Het
Tnk2	C	T	16: 32,499,408 (GRCm39)	P907L	probably benign	Het
Trim14	C	A	4: 46,522,043 (GRCm39)	K211N	probably damaging	Het
Trim15	A	C	17: 37,177,878 (GRCm39)	L39R	probably damaging	Het
Tspan15	T	A	10: 62,023,872 (GRCm39)	T269S	probably benign	Het
Ttc7	T	A	17: 87,669,292 (GRCm39)	D646E	probably benign	Het
Ttll6	A	T	11: 96,038,382 (GRCm39)	Q410L	probably benign	Het
Unc79	A	G	12: 103,027,666 (GRCm39)	Q419R	probably damaging	Het
Vcam1	A	T	3: 115,908,065 (GRCm39)	Y666N	possibly damaging	Het
Vmn1r10	A	T	6: 57,090,486 (GRCm39)	Y26F	probably damaging	Het
Vmn1r80	A	G	7: 11,927,775 (GRCm39)	N295S	probably benign	Het
Vmn2r114	A	T	17: 23,509,917 (GRCm39)	H854Q	probably benign	Het
Vmn2r2	A	T	3: 64,042,039 (GRCm39)	D225E	probably damaging	Het
Vmn2r4	A	T	3: 64,296,855 (GRCm39)	Y643*	probably null	Het
Vmn2r52	T	A	7: 9,893,393 (GRCm39)	Y582F	probably damaging	Het
Vmn2r60	G	T	7: 41,844,564 (GRCm39)	L642F	possibly damaging	Het
Zbtb20	T	C	16: 43,430,109 (GRCm39)	S207P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het
Zkscan7	G	T	9: 122,717,958 (GRCm39)	E118*	probably null	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
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
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'- GGTTTCCACTGCACAGATGTGTCC -3'
(R):5'- GGCACAGGCATCTCCTCTAACTTC -3'

Sequencing Primer
(F):5'- GCACAGATGTGTCCCACATTATG -3'
(R):5'- GGCATCTCCTCTAACTTCCTCAG -3'

Posted On

2013-04-16