Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:Mtss1'

161412

Institutional Source

Beutler Lab

Gene Symbol

Mtss1

Ensembl Gene

ENSMUSG00000022353

Gene Name

metastasis suppressor 1

Synonyms

D130001D01Rik, 2310003N14Rik, MIM

MMRRC Submission

039484-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R1428 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

58941234-59082005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58947390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 393 (D393G)

Ref Sequence

ENSEMBL: ENSMUSP00000079239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080371]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080371
AA Change: D393G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000079239
Gene: ENSMUSG00000022353
AA Change: D393G

Domain	Start	End	E-Value	Type
Pfam:IMD	16	241	2.1e-107	PFAM
low complexity region	257	309	N/A	INTRINSIC
low complexity region	443	459	N/A	INTRINSIC
low complexity region	612	628	N/A	INTRINSIC
WH2	731	748	1.36e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226976

Predicted Effect

probably benign
Transcript: ENSMUST00000227045

Predicted Effect

unknown
Transcript: ENSMUST00000227196
AA Change: D176G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227290

Predicted Effect

probably benign
Transcript: ENSMUST00000228067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228365

Meta Mutation Damage Score

0.0986

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit polycystic kidney in 50% of mice by 5 months of age. Mouse embryonic fibroblasts from mice homozygous for a different gene trap allele exhibit altered cell morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411	I249M	possibly damaging	Het
2410089E03Rik	T	A	15: 8,219,369	Y1801N	possibly damaging	Het
Abl1	G	T	2: 31,801,810	A1114S	probably damaging	Het
Acbd5	T	C	2: 23,099,721	V452A	probably damaging	Het
Armc12	A	G	17: 28,537,936	D225G	probably damaging	Het
Atad3a	T	A	4: 155,755,682	Q121H	probably damaging	Het
Bptf	T	A	11: 107,073,047	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,612,230	I361N	probably damaging	Het
Canx	A	G	11: 50,308,394		probably benign	Het
Ccdc127	C	T	13: 74,356,915	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,335,036	K152E	probably benign	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,339,284		probably null	Het
Crybg1	T	C	10: 43,975,078	N1599S	probably benign	Het
Cyc1	T	C	15: 76,344,348	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,294,880	K484E	probably benign	Het
Ddx60	T	C	8: 61,958,159		probably benign	Het
Epg5	T	C	18: 77,962,427	S711P	probably damaging	Het
Espl1	A	T	15: 102,305,685	Q649L	probably benign	Het
Eya1	G	A	1: 14,304,414		probably benign	Het
Fam214a	A	T	9: 75,006,321	T79S	probably benign	Het
Fam71e2	T	A	7: 4,757,688	H675L	possibly damaging	Het
Fat2	T	A	11: 55,296,087	Y1311F	probably damaging	Het
Gins4	T	C	8: 23,227,128	Y208C	probably damaging	Het
Gsk3b	T	C	16: 38,090,575	V17A	probably benign	Het
Gykl1	A	T	18: 52,694,761	K347I	probably benign	Het
Helz	T	A	11: 107,592,840		probably benign	Het
Hivep3	C	T	4: 120,096,575	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,442,834		probably benign	Het
Kif13a	A	G	13: 46,791,511		probably benign	Het
Kpna3	C	T	14: 61,383,220		probably benign	Het
Mmp15	C	G	8: 95,369,562	P327R	probably benign	Het
Mrc1	A	T	2: 14,315,263	T1003S	probably benign	Het
Olfm4	T	A	14: 80,021,403	Y331N	probably damaging	Het
Olfr1255	G	C	2: 89,816,381	L12F	probably damaging	Het
Olfr517	T	A	7: 108,868,960	N65Y	probably damaging	Het
P2rx3	G	C	2: 85,024,950	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,705,963	T217I	probably damaging	Het
Phlpp1	A	G	1: 106,380,425		probably null	Het
Pknox1	T	C	17: 31,592,092		probably benign	Het
Plb1	A	G	5: 32,264,912	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 185,247,904	A340T	probably damaging	Het
Rnf103	T	A	6: 71,508,999	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,798,726	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,707		probably benign	Het
Sstr4	A	G	2: 148,396,359	S297G	probably benign	Het
Timm8a1	C	T	X: 134,538,123	E93K	probably benign	Het
Uck1	A	C	2: 32,258,355	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,498,305		probably benign	Het

Other mutations in Mtss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Mtss1	APN	15	58951468	critical splice donor site	probably null
IGL00693:Mtss1	APN	15	58944124	missense	probably damaging	1.00
IGL00817:Mtss1	APN	15	58943632	splice site	probably null
IGL00923:Mtss1	APN	15	58943499	missense	possibly damaging	0.80
IGL01704:Mtss1	APN	15	59055083	missense	possibly damaging	0.91
IGL02257:Mtss1	APN	15	58956545	missense	probably damaging	1.00
IGL02632:Mtss1	APN	15	58944015	missense	probably damaging	0.99
IGL02829:Mtss1	APN	15	59058428	splice site	probably benign
IGL02838:Mtss1	APN	15	59081515	missense	probably benign	0.06
IGL02968:Mtss1	APN	15	58956515	missense	possibly damaging	0.77
IGL03012:Mtss1	APN	15	59058400	missense	probably damaging	0.97
IGL03022:Mtss1	APN	15	58953590	missense	probably damaging	1.00
R0193:Mtss1	UTSW	15	58944017	missense	probably damaging	0.99
R0498:Mtss1	UTSW	15	58945437	missense	probably damaging	1.00
R0510:Mtss1	UTSW	15	58956538	missense	probably benign	0.07
R0655:Mtss1	UTSW	15	59081502	missense	probably damaging	0.99
R1183:Mtss1	UTSW	15	58971048	missense	probably damaging	0.97
R1503:Mtss1	UTSW	15	58951672	missense	probably damaging	1.00
R1597:Mtss1	UTSW	15	58943711	missense	probably damaging	1.00
R1795:Mtss1	UTSW	15	59058400	missense	possibly damaging	0.92
R3689:Mtss1	UTSW	15	58953536	missense	probably damaging	1.00
R4724:Mtss1	UTSW	15	59081518	missense	probably damaging	0.98
R4811:Mtss1	UTSW	15	58944073	missense	probably damaging	1.00
R4968:Mtss1	UTSW	15	58943918	missense	probably damaging	1.00
R5082:Mtss1	UTSW	15	58971019	missense	probably damaging	1.00
R5783:Mtss1	UTSW	15	58943524	missense	probably benign	0.05
R6253:Mtss1	UTSW	15	58943719	missense	probably benign	0.02
R6767:Mtss1	UTSW	15	58953581	missense	probably benign	0.00
R6890:Mtss1	UTSW	15	58951659	missense	probably damaging	1.00
R7001:Mtss1	UTSW	15	58948334	intron	probably benign
R7502:Mtss1	UTSW	15	58948361	missense	probably damaging	0.96
R7722:Mtss1	UTSW	15	59055086	missense	probably damaging	1.00
R7867:Mtss1	UTSW	15	58971009	missense	possibly damaging	0.82
R7888:Mtss1	UTSW	15	58972524	missense	probably damaging	1.00
R8954:Mtss1	UTSW	15	58955137	missense	probably damaging	1.00
R9493:Mtss1	UTSW	15	59055020	missense	probably damaging	1.00
Z1177:Mtss1	UTSW	15	58945420	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCCTAGCAGTCCCTGATTTCC -3'
(R):5'- GGTGTCAGTGCCATCTTGGATCTC -3'

Sequencing Primer
(F):5'- gagggagggaggaaaggag -3'
(R):5'- AGTGCCATCTTGGATCTCTACAC -3'

Posted On

2014-03-14