Mutagenetix > Incidental Mutation

Incidental Mutation 'R8497:Mtss2'

658323

Institutional Source

Beutler Lab

Gene Symbol

Mtss2

Ensembl Gene

ENSMUSG00000033763

Gene Name

MTSS I-BAR domain containing 2

Synonyms

Mtss1l, ABBA

MMRRC Submission

067939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111448108-111468032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111465222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 492 (V492A)

Ref Sequence

ENSEMBL: ENSMUSP00000115220 (fasta)

Gene Model

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

AlphaFold

Q6P9S0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052457
AA Change: V554A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763
AA Change: V554A

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

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

possibly damaging
Transcript: ENSMUST00000144041
AA Change: V492A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763
AA Change: V492A

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

Meta Mutation Damage Score

0.2071

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,923,250 (GRCm39)	H509Y	probably benign	Het
Afm	A	T	5: 90,699,202 (GRCm39)		probably null	Het
Apc	G	A	18: 34,446,083 (GRCm39)	C975Y	possibly damaging	Het
Ash1l	G	T	3: 88,914,951 (GRCm39)	M1860I	probably benign	Het
Bdkrb1	C	T	12: 105,570,463 (GRCm39)	Q10*	probably null	Het
Bphl	A	G	13: 34,221,706 (GRCm39)	K21E	possibly damaging	Het
Cadps2	T	C	6: 23,355,918 (GRCm39)	N837D	probably benign	Het
Cat	C	G	2: 103,287,221 (GRCm39)	A470P	probably damaging	Het
Cdc34	G	T	10: 79,520,845 (GRCm39)	D11Y	probably damaging	Het
Cep290	A	G	10: 100,387,320 (GRCm39)	E1936G	probably damaging	Het
Cnot6	A	T	11: 49,566,191 (GRCm39)	N501K	possibly damaging	Het
Cyth3	A	C	5: 143,678,328 (GRCm39)	D44A	probably benign	Het
Dchs1	C	T	7: 105,408,168 (GRCm39)	G1888D	probably damaging	Het
Ffar1	T	G	7: 30,560,334 (GRCm39)	I188L	probably benign	Het
Fhip1b	G	T	7: 105,030,396 (GRCm39)	D820E	probably damaging	Het
Gpr17	A	G	18: 32,080,173 (GRCm39)	Y297H	probably damaging	Het
H2-M10.5	A	C	17: 37,084,729 (GRCm39)	E151A	probably damaging	Het
Hmcn1	C	T	1: 150,455,990 (GRCm39)	R5310K	probably benign	Het
Hmcn2	T	C	2: 31,313,357 (GRCm39)	L3522P	possibly damaging	Het
Hs2st1	T	G	3: 144,140,452 (GRCm39)	T290P	probably damaging	Het
Il5ra	G	A	6: 106,715,066 (GRCm39)	L231F	probably benign	Het
Itgav	T	A	2: 83,615,805 (GRCm39)	C529S	probably damaging	Het
Itprid1	A	T	6: 55,875,179 (GRCm39)	R376S	probably benign	Het
Lrrcc1	A	G	3: 14,605,044 (GRCm39)	D138G	possibly damaging	Het
Mat1a	C	T	14: 40,843,851 (GRCm39)	R357W	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nalcn	A	G	14: 123,752,771 (GRCm39)	V330A	probably damaging	Het
Neu3	A	T	7: 99,472,342 (GRCm39)		probably null	Het
Nfx1	A	G	4: 40,976,968 (GRCm39)	D214G	possibly damaging	Het
Or2a14	T	C	6: 43,130,818 (GRCm39)	L193P	probably damaging	Het
Or2y17	G	A	11: 49,231,721 (GRCm39)	D121N	probably damaging	Het
Or4f14	T	A	2: 111,742,964 (GRCm39)	I104F	possibly damaging	Het
Or5b104	T	C	19: 13,072,707 (GRCm39)	T102A	probably benign	Het
Pcdhb14	A	T	18: 37,582,349 (GRCm39)	H485L	probably benign	Het
Pdss2	A	C	10: 43,289,521 (GRCm39)	K342T	possibly damaging	Het
Ppargc1a	A	G	5: 51,647,570 (GRCm39)	S254P	probably damaging	Het
Prelid1	A	G	13: 55,470,833 (GRCm39)	D87G	probably damaging	Het
Prkg1	C	A	19: 31,279,709 (GRCm39)	C190F	probably damaging	Het
Psmb5	A	G	14: 54,851,837 (GRCm39)	S116P	possibly damaging	Het
Rassf6	A	G	5: 90,779,391 (GRCm39)	V14A	possibly damaging	Het
Ripk1	T	C	13: 34,211,934 (GRCm39)	S415P	probably damaging	Het
Rnft1	A	T	11: 86,386,132 (GRCm39)	K344*	probably null	Het
Sacs	G	A	14: 61,429,702 (GRCm39)	R587Q	probably benign	Het
Skp2	A	T	15: 9,127,971 (GRCm39)		probably null	Het
Spata31d1a	T	C	13: 59,848,988 (GRCm39)	K1047E	possibly damaging	Het
Spopfm2	T	A	3: 94,083,119 (GRCm39)	I231F	possibly damaging	Het
Szt2	G	A	4: 118,245,518 (GRCm39)	T1098I	possibly damaging	Het
Tcf20	A	G	15: 82,740,152 (GRCm39)	M433T	probably benign	Het
Tsen54	T	C	11: 115,713,410 (GRCm39)	F438L	probably damaging	Het
Utp23	C	T	15: 51,745,614 (GRCm39)	T144I	probably damaging	Het
Vmn2r105	T	C	17: 20,455,134 (GRCm39)	M1V	probably null	Het
Wdfy4	C	T	14: 32,688,356 (GRCm39)	V2926M	probably damaging	Het
Zfp407	T	C	18: 84,578,021 (GRCm39)	K1031E	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
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
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'- TCTGTGAATGGGGATGCAGAC -3'
(R):5'- AAGCTTCTCTACTAGGCTGTGC -3'

Sequencing Primer
(F):5'- ATGCAGACAGTGAAGGCCCC -3'
(R):5'- TAGCTAGCTACCTCTGGGGACTG -3'

Posted On

2021-01-18