Mutagenetix > Incidental Mutation

Incidental Mutation 'R4552:Mtss2'

334016

Institutional Source

Beutler Lab

Gene Symbol

Mtss2

Ensembl Gene

ENSMUSG00000033763

Gene Name

MTSS I-BAR domain containing 2

Synonyms

Mtss1l, ABBA

MMRRC Submission

041783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111448108-111468032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111465137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 464 (T464A)

Ref Sequence

ENSEMBL: ENSMUSP00000115220 (fasta)

Gene Model

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

AlphaFold

Q6P9S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000052457
AA Change: T526A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763
AA Change: T526A

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

noncoding transcript
Transcript: ENSMUST00000133848

Predicted Effect

probably benign
Transcript: ENSMUST00000141302

SMART Domains

Protein: ENSMUSP00000116518
Gene: ENSMUSG00000033763

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

probably damaging
Transcript: ENSMUST00000144041
AA Change: T464A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763
AA Change: T464A

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

probably benign
Transcript: ENSMUST00000149273

SMART Domains

Protein: ENSMUSP00000119495
Gene: ENSMUSG00000033763

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154803

Meta Mutation Damage Score

0.1610

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Arhgap33	A	T	7: 30,218,533 (GRCm39)		probably benign	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
C4bp	A	G	1: 130,564,464 (GRCm39)	Y407H	possibly damaging	Het
Camta1	T	C	4: 151,876,959 (GRCm39)	R79G	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cep128	T	C	12: 91,260,936 (GRCm39)	E309G	probably damaging	Het
Chit1	A	G	1: 134,071,789 (GRCm39)	T100A	probably benign	Het
Dalrd3	A	G	9: 108,449,429 (GRCm39)	D454G	possibly damaging	Het
Ddx19a	G	A	8: 111,705,198 (GRCm39)	Q308*	probably null	Het
Dmxl2	T	C	9: 54,359,047 (GRCm39)	N395S	probably damaging	Het
Dnah17	T	C	11: 117,943,769 (GRCm39)	D3125G	possibly damaging	Het
Dnah5	T	C	15: 28,397,300 (GRCm39)	V3331A	probably benign	Het
Dnah9	T	C	11: 65,732,192 (GRCm39)	E4238G	probably damaging	Het
Dner	T	C	1: 84,361,578 (GRCm39)	Y677C	probably damaging	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Hid1	G	A	11: 115,249,505 (GRCm39)	T240M	possibly damaging	Het
Igbp1b	T	A	6: 138,635,112 (GRCm39)	M111L	probably benign	Het
Kif26b	T	A	1: 178,711,600 (GRCm39)	I740N	probably damaging	Het
Klk4	C	A	7: 43,533,443 (GRCm39)	H101N	probably benign	Het
Mrgpra2b	C	A	7: 47,113,754 (GRCm39)	S300I	probably benign	Het
Nbas	T	C	12: 13,385,938 (GRCm39)		probably null	Het
Nif3l1	C	T	1: 58,488,483 (GRCm39)		probably benign	Het
Noct	T	A	3: 51,157,589 (GRCm39)	I309N	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odf2l	A	T	3: 144,856,844 (GRCm39)	T600S	probably benign	Het
Odf4	C	T	11: 68,812,866 (GRCm39)	S264N	probably benign	Het
Or13a17	A	T	7: 140,271,655 (GRCm39)	Y279F	probably damaging	Het
Or1m1	A	G	9: 18,666,430 (GRCm39)	V167A	possibly damaging	Het
Or2y1e	A	T	11: 49,218,777 (GRCm39)	M180L	probably benign	Het
Or6c217	T	C	10: 129,737,992 (GRCm39)	M196V	probably benign	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Parpbp	T	A	10: 87,929,564 (GRCm39)	Q428L	possibly damaging	Het
Pclo	T	C	5: 14,719,285 (GRCm39)	S1141P	unknown	Het
Plcb1	T	C	2: 135,177,413 (GRCm39)	S582P	probably benign	Het
Ppargc1a	C	T	5: 51,620,557 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,346 (GRCm39)	I416L	probably benign	Het
Rhpn1	G	A	15: 75,585,968 (GRCm39)	R627H	probably benign	Het
Ric8a	G	A	7: 140,441,250 (GRCm39)	G182S	probably damaging	Het
Rims1	T	C	1: 22,443,718 (GRCm39)	D895G	probably damaging	Het
Rrp1b	G	A	17: 32,274,984 (GRCm39)		probably benign	Het
Rtf1	T	A	2: 119,561,210 (GRCm39)	D636E	probably benign	Het
Scn3a	T	C	2: 65,354,523 (GRCm39)	D333G	probably benign	Het
Sema6a	A	G	18: 47,424,990 (GRCm39)	L207P	probably damaging	Het
Shcbp1	A	T	8: 4,799,779 (GRCm39)	Y160*	probably null	Het
Slc27a1	A	T	8: 72,032,710 (GRCm39)		probably null	Het
Ston2	C	T	12: 91,608,646 (GRCm39)	R818Q	probably damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tjap1	A	T	17: 46,570,953 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,517 (GRCm39)	F177Y	probably damaging	Het
Vmn1r57	A	G	7: 5,223,667 (GRCm39)	D64G	possibly damaging	Het
Vmn2r73	T	A	7: 85,525,055 (GRCm39)	D31V	probably benign	Het
Vmn2r-ps41	A	T	7: 9,180,063 (GRCm39)		noncoding transcript	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
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
R7580:Mtss2	UTSW	8	111,464,268 (GRCm39)	missense	possibly damaging	0.95
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'- GCTCAGACTACGACTGCTAC -3'
(R):5'- TGAGGCCACTTCGTCTGTGTAG -3'

Sequencing Primer
(F):5'- GACTACGACTGCTACTCTGTGAATG -3'
(R):5'- TCTGTGTAGAAGACGCACTC -3'

Posted On

2015-08-18