Mutagenetix > Incidental Mutation

Incidental Mutation 'R7580:Mtss2'

586692

Institutional Source

Beutler Lab

Gene Symbol

Mtss2

Ensembl Gene

ENSMUSG00000033763

Gene Name

MTSS I-BAR domain containing 2

Synonyms

Mtss1l, ABBA

MMRRC Submission

045664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7580 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111448108-111468032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111464268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 361 (R361H)

Ref Sequence

ENSEMBL: ENSMUSP00000050211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052457] [ENSMUST00000076846] [ENSMUST00000144041] [ENSMUST00000150680]

AlphaFold

Q6P9S0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052457
AA Change: R361H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763
AA Change: R361H

Domain	Start	End	E-Value	Type
Pfam:IMD	15	236	8.1e-108	PFAM
low complexity region	252	274	N/A	INTRINSIC
low complexity region	284	295	N/A	INTRINSIC
low complexity region	312	330	N/A	INTRINSIC
low complexity region	368	386	N/A	INTRINSIC
low complexity region	429	442	N/A	INTRINSIC
low complexity region	546	562	N/A	INTRINSIC
low complexity region	668	690	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076846

SMART Domains

Protein: ENSMUSP00000076120
Gene: ENSMUSG00000031750

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:IL34	28	184	2e-79	PFAM
low complexity region	219	235	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116518
Gene: ENSMUSG00000033763
AA Change: R278H

Domain	Start	End	E-Value	Type
Pfam:IMD	1	122	1e-56	PFAM
low complexity region	138	179	N/A	INTRINSIC
low complexity region	202	213	N/A	INTRINSIC
low complexity region	230	248	N/A	INTRINSIC
low complexity region	286	304	N/A	INTRINSIC
low complexity region	347	360	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144041
AA Change: R299H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763
AA Change: R299H

Domain	Start	End	E-Value	Type
Pfam:IMD	1	174	3.6e-72	PFAM
low complexity region	190	212	N/A	INTRINSIC
low complexity region	222	233	N/A	INTRINSIC
low complexity region	250	268	N/A	INTRINSIC
low complexity region	306	324	N/A	INTRINSIC
low complexity region	367	380	N/A	INTRINSIC
low complexity region	484	500	N/A	INTRINSIC
low complexity region	606	628	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119495
Gene: ENSMUSG00000033763
AA Change: R283H

Domain	Start	End	E-Value	Type
Pfam:IMD	1	126	2.5e-59	PFAM
low complexity region	142	183	N/A	INTRINSIC
low complexity region	206	217	N/A	INTRINSIC
low complexity region	239	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150680

SMART Domains

Protein: ENSMUSP00000114398
Gene: ENSMUSG00000031750

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:IL34	23	155	4.6e-64	PFAM
low complexity region	197	208	N/A	INTRINSIC

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,993,040 (GRCm39)	Y213F	probably damaging	Het
Adamdec1	A	G	14: 68,802,980 (GRCm39)	S462P	probably benign	Het
Adamtsl1	T	A	4: 85,972,301 (GRCm39)	C3S	possibly damaging	Het
Bag1	C	T	4: 40,947,836 (GRCm39)	E123K	probably benign	Het
Brip1	A	G	11: 86,048,427 (GRCm39)	L305P	probably damaging	Het
Cage1	T	A	13: 38,206,700 (GRCm39)	I382F	possibly damaging	Het
Cfap52	T	A	11: 67,837,146 (GRCm39)	K205I	probably damaging	Het
Cmtr2	T	A	8: 110,948,309 (GRCm39)	N206K	probably damaging	Het
Defb34	G	A	8: 19,176,426 (GRCm39)	C39Y	possibly damaging	Het
Dennd3	T	C	15: 73,428,296 (GRCm39)	S881P	possibly damaging	Het
Dglucy	C	T	12: 100,816,423 (GRCm39)	A325V	probably benign	Het
Dnah8	A	G	17: 30,994,077 (GRCm39)	E3398G	probably damaging	Het
Dsc2	A	T	18: 20,183,130 (GRCm39)	I96K	probably damaging	Het
Endov	C	T	11: 119,390,692 (GRCm39)		probably benign	Het
Fer1l6	A	T	15: 58,430,245 (GRCm39)	Q224L	probably benign	Het
Fmo2	T	C	1: 162,704,613 (GRCm39)	N431S	possibly damaging	Het
Gata3	A	C	2: 9,867,943 (GRCm39)	V337G	probably damaging	Het
Gtse1	G	A	15: 85,746,432 (GRCm39)	V83M	probably damaging	Het
Hgd	C	A	16: 37,439,241 (GRCm39)	P224H	possibly damaging	Het
Kcnh6	T	C	11: 105,908,374 (GRCm39)	V330A	probably damaging	Het
Kiz	C	G	2: 146,798,169 (GRCm39)	I631M	probably damaging	Het
Klhl18	T	C	9: 110,265,118 (GRCm39)	D366G	probably benign	Het
Lrmda	C	T	14: 22,069,925 (GRCm39)		probably benign	Het
Mc1r	G	T	8: 124,134,906 (GRCm39)	A220S	probably damaging	Het
Megf6	T	A	4: 154,355,201 (GRCm39)	C1505*	probably null	Het
Mmp20	C	T	9: 7,654,144 (GRCm39)	R355*	probably null	Het
Mmp28	T	A	11: 83,335,658 (GRCm39)	Q280L	probably damaging	Het
Mppe1	C	T	18: 67,370,488 (GRCm39)	A70T	probably damaging	Het
Mtif3	T	G	5: 146,895,757 (GRCm39)	D110A	possibly damaging	Het
Mvp	T	C	7: 126,591,483 (GRCm39)	D542G	probably damaging	Het
Nlrp5	T	C	7: 23,133,174 (GRCm39)	C940R	probably damaging	Het
Nmur2	C	T	11: 55,917,808 (GRCm39)	V394I	probably benign	Het
Nwd2	A	G	5: 63,965,624 (GRCm39)	H1736R	probably benign	Het
Or2n1c	T	C	17: 38,519,934 (GRCm39)	I266T	probably benign	Het
Pira13	A	T	7: 3,827,611 (GRCm39)	F182Y	unknown	Het
Purg	A	G	8: 33,906,661 (GRCm39)	Y317C	possibly damaging	Het
Ralgapa1	T	A	12: 55,765,013 (GRCm39)	M880L	probably benign	Het
Rap1gap	T	C	4: 137,447,293 (GRCm39)	F413L	possibly damaging	Het
Sart3	A	T	5: 113,892,440 (GRCm39)		probably null	Het
Scaf4	G	A	16: 90,026,740 (GRCm39)	Q1026*	probably null	Het
Slc26a1	A	G	5: 108,819,735 (GRCm39)	L504P	probably damaging	Het
Slc35d1	C	A	4: 103,065,330 (GRCm39)	V184L		Het
Slc5a11	C	T	7: 122,864,421 (GRCm39)	A339V	probably damaging	Het
Stab2	A	T	10: 86,705,028 (GRCm39)	M1780K	probably benign	Het
Tas1r2	G	A	4: 139,387,056 (GRCm39)	D172N	probably benign	Het
Tasor	A	G	14: 27,188,243 (GRCm39)	I896M	probably benign	Het
Tasor2	G	A	13: 3,624,752 (GRCm39)	P1733S	probably damaging	Het
Thoc1	A	T	18: 9,986,343 (GRCm39)	K358N	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Ttll8	A	C	15: 88,818,132 (GRCm39)	L181R	probably damaging	Het
Ubl4b	G	A	3: 107,461,784 (GRCm39)	Q159*	probably null	Het
Xrn1	A	G	9: 95,893,732 (GRCm39)	H967R	not run	Het
Zeb2	T	C	2: 44,884,544 (GRCm39)	D1049G	probably damaging	Het

Other mutations in Mtss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02124:Mtss2	APN	8	111,464,256 (GRCm39)	missense	probably damaging	1.00
R0620:Mtss2	UTSW	8	111,464,580 (GRCm39)	missense	probably damaging	0.98
R0685:Mtss2	UTSW	8	111,454,029 (GRCm39)	critical splice donor site	probably null
R2082:Mtss2	UTSW	8	111,452,889 (GRCm39)	critical splice donor site	probably null
R2149:Mtss2	UTSW	8	111,453,015 (GRCm39)	missense	possibly damaging	0.58
R2266:Mtss2	UTSW	8	111,455,362 (GRCm39)	missense	possibly damaging	0.80
R2267:Mtss2	UTSW	8	111,455,362 (GRCm39)	missense	possibly damaging	0.80
R2269:Mtss2	UTSW	8	111,455,362 (GRCm39)	missense	possibly damaging	0.80
R2378:Mtss2	UTSW	8	111,464,981 (GRCm39)	missense	probably damaging	1.00
R3756:Mtss2	UTSW	8	111,456,692 (GRCm39)	missense	probably damaging	1.00
R4005:Mtss2	UTSW	8	111,465,673 (GRCm39)	frame shift	probably null
R4552:Mtss2	UTSW	8	111,465,137 (GRCm39)	missense	probably damaging	1.00
R4553:Mtss2	UTSW	8	111,465,137 (GRCm39)	missense	probably damaging	1.00
R4849:Mtss2	UTSW	8	111,452,875 (GRCm39)	missense	possibly damaging	0.92
R5212:Mtss2	UTSW	8	111,455,850 (GRCm39)	missense	probably damaging	1.00
R6294:Mtss2	UTSW	8	111,453,960 (GRCm39)	missense	possibly damaging	0.89
R6336:Mtss2	UTSW	8	111,458,796 (GRCm39)	missense	probably damaging	1.00
R7090:Mtss2	UTSW	8	111,456,656 (GRCm39)	missense	probably damaging	1.00
R7581:Mtss2	UTSW	8	111,452,845 (GRCm39)	missense	possibly damaging	0.92
R7810:Mtss2	UTSW	8	111,452,833 (GRCm39)	missense	probably damaging	0.99
R8497:Mtss2	UTSW	8	111,465,222 (GRCm39)	missense	possibly damaging	0.95
R9033:Mtss2	UTSW	8	111,465,651 (GRCm39)	missense	probably damaging	1.00
R9596:Mtss2	UTSW	8	111,458,689 (GRCm39)	missense
R9640:Mtss2	UTSW	8	111,464,575 (GRCm39)	missense	probably benign	0.00
R9796:Mtss2	UTSW	8	111,456,753 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTGTACCTTTCTTGGAACAC -3'
(R):5'- CATTGACCCTGGAGTGAAGAC -3'

Sequencing Primer
(F):5'- AACTGCTTGGATGGAGCTATCAC -3'
(R):5'- CGGGGGTGGGGAATAGCC -3'

Posted On

2019-10-24