Mutagenetix > Incidental Mutation

Incidental Mutation 'R0685:Mtss2'

61128

Institutional Source

Beutler Lab

Gene Symbol

Mtss2

Ensembl Gene

ENSMUSG00000033763

Gene Name

MTSS I-BAR domain containing 2

Synonyms

Mtss1l, ABBA

MMRRC Submission

038870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0685 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

110721476-110741400 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 110727397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6P9S0

Predicted Effect

probably null
Transcript: ENSMUST00000052457

SMART Domains

Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763

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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000141527

Predicted Effect

probably null
Transcript: ENSMUST00000144041

SMART Domains

Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763

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 null
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 null
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

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,593,438 (GRCm38)	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,532,953 (GRCm38)	T82A	possibly damaging	Het
Adgre4	A	C	17: 55,792,035 (GRCm38)	E180D	probably benign	Het
Ankrd28	G	A	14: 31,743,450 (GRCm38)		probably benign	Het
Aoc3	A	G	11: 101,336,447 (GRCm38)	D382G	possibly damaging	Het
Apob	C	A	12: 8,010,742 (GRCm38)	R3075S	probably benign	Het
Aqr	A	G	2: 114,140,977 (GRCm38)	F459S	probably damaging	Het
Bcr	T	C	10: 75,131,643 (GRCm38)	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,603,919 (GRCm38)	R163K	probably benign	Het
Bod1	A	T	11: 31,669,267 (GRCm38)	N101K	possibly damaging	Het
Bysl	A	T	17: 47,602,471 (GRCm38)	S296T	probably benign	Het
Chl1	G	A	6: 103,708,542 (GRCm38)		probably null	Het
Clstn1	G	A	4: 149,646,855 (GRCm38)	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,998,546 (GRCm38)	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,657,192 (GRCm38)	V3633A	probably damaging	Het
Dynlt5	T	C	4: 103,002,538 (GRCm38)	Y96H	probably damaging	Het
Elp4	C	A	2: 105,792,277 (GRCm38)	C241F	possibly damaging	Het
Fat4	T	A	3: 39,001,178 (GRCm38)	F4182Y	probably benign	Het
Gabbr2	G	A	4: 46,787,521 (GRCm38)	H381Y	possibly damaging	Het
Gm10577	G	T	4: 101,020,318 (GRCm38)		probably benign	Het
Gm9955	G	T	18: 24,709,257 (GRCm38)		probably benign	Het
Gstm5	T	A	3: 107,897,319 (GRCm38)	I73N	probably damaging	Het
Gypa	T	A	8: 80,496,702 (GRCm38)		probably benign	Het
Hectd2	T	A	19: 36,569,431 (GRCm38)	V64D	probably damaging	Het
Igkv10-95	T	A	6: 68,680,559 (GRCm38)	Y20N	probably benign	Het
Il15	T	C	8: 82,337,559 (GRCm38)		probably benign	Het
Iqca1	C	A	1: 90,142,731 (GRCm38)	G133V	probably null	Het
Kiz	C	A	2: 146,856,058 (GRCm38)		probably benign	Het
Lcmt2	C	A	2: 121,139,240 (GRCm38)	S234I	probably benign	Het
Lilra5	A	G	7: 4,241,957 (GRCm38)		probably benign	Het
Lin37	T	C	7: 30,555,874 (GRCm38)	E187G	probably damaging	Het
Lrrc37	T	C	11: 103,616,888 (GRCm38)		probably benign	Het
Mcmdc2	T	A	1: 9,911,814 (GRCm38)		probably null	Het
Mctp1	T	C	13: 76,825,799 (GRCm38)		probably null	Het
Mdp1	C	A	14: 55,659,269 (GRCm38)	G112*	probably null	Het
Mmp15	T	C	8: 95,372,134 (GRCm38)	Y530H	possibly damaging	Het
Muc5ac	T	C	7: 141,807,709 (GRCm38)	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,906,772 (GRCm38)	C66S	possibly damaging	Het
Ninl	G	T	2: 150,939,855 (GRCm38)	Q1237K	possibly damaging	Het
Or5p70	A	T	7: 108,395,263 (GRCm38)	T48S	possibly damaging	Het
Or9m1b	T	C	2: 88,006,418 (GRCm38)	E111G	probably damaging	Het
Orc6	T	G	8: 85,301,154 (GRCm38)	S37R	possibly damaging	Het
Papss1	A	C	3: 131,583,093 (GRCm38)	N119H	possibly damaging	Het
Phf13	A	T	4: 151,991,612 (GRCm38)	F278I	probably damaging	Het
Pole2	C	A	12: 69,211,413 (GRCm38)	A239S	probably damaging	Het
Ppt2	T	C	17: 34,626,572 (GRCm38)	D75G	probably damaging	Het
Psd2	A	G	18: 36,002,991 (GRCm38)	D443G	possibly damaging	Het
Psen1	C	A	12: 83,714,820 (GRCm38)	S132*	probably null	Het
Psme4	A	G	11: 30,878,415 (GRCm38)	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,915,482 (GRCm38)		probably benign	Het
Reep3	A	G	10: 67,021,739 (GRCm38)		probably benign	Het
Rexo4	A	T	2: 26,958,574 (GRCm38)		probably benign	Het
Rnf6	A	C	5: 146,211,658 (GRCm38)	S183R	probably damaging	Het
Scai	A	T	2: 39,103,737 (GRCm38)	M297K	probably damaging	Het
Scn9a	A	T	2: 66,483,499 (GRCm38)	S1947R	probably benign	Het
Sema6c	T	C	3: 95,172,710 (GRCm38)	C772R	possibly damaging	Het
Skint7	T	C	4: 111,980,345 (GRCm38)	S107P	possibly damaging	Het
Slc24a3	A	G	2: 145,606,795 (GRCm38)	N420D	probably benign	Het
Smc1b	T	C	15: 85,070,820 (GRCm38)	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,866,648 (GRCm38)	P82L	probably damaging	Het
Sp3	A	C	2: 72,970,998 (GRCm38)	F268V	probably damaging	Het
Srms	T	C	2: 181,212,633 (GRCm38)	D47G	probably benign	Het
Ss18	A	C	18: 14,651,181 (GRCm38)	M150R	probably damaging	Het
Taf5	G	A	19: 47,074,854 (GRCm38)	R281Q	probably benign	Het
Tars1	T	C	15: 11,385,173 (GRCm38)	K644R	probably benign	Het
Tinag	C	A	9: 76,952,003 (GRCm38)	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,411,240 (GRCm38)	S244G	probably benign	Het
Tpr	T	C	1: 150,433,725 (GRCm38)	V1670A	possibly damaging	Het
Trpv3	A	G	11: 73,296,814 (GRCm38)		probably benign	Het
Uhrf1	G	T	17: 56,310,742 (GRCm38)	V155L	probably damaging	Het
Ush2a	G	A	1: 188,400,278 (GRCm38)	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,359,275 (GRCm38)	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,928,010 (GRCm38)	D368G	probably benign	Het
Vps13a	A	G	19: 16,780,741 (GRCm38)	V10A	probably damaging	Het
Wbp11	A	G	6: 136,814,638 (GRCm38)		probably benign	Het
Zcwpw1	A	G	5: 137,799,592 (GRCm38)	D145G	probably benign	Het
Zfp607a	G	A	7: 27,878,476 (GRCm38)	V324I	probably damaging	Het
Zfp618	A	G	4: 63,133,774 (GRCm38)	I931V	probably benign	Het
Zfp821	T	C	8: 109,724,542 (GRCm38)	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,613,717 (GRCm38)	H232L	probably damaging	Het

Other mutations in Mtss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02124:Mtss2	APN	8	110,737,624 (GRCm38)	missense	probably damaging	1.00
R0620:Mtss2	UTSW	8	110,737,948 (GRCm38)	missense	probably damaging	0.98
R2082:Mtss2	UTSW	8	110,726,257 (GRCm38)	critical splice donor site	probably null
R2149:Mtss2	UTSW	8	110,726,383 (GRCm38)	missense	possibly damaging	0.58
R2266:Mtss2	UTSW	8	110,728,730 (GRCm38)	missense	possibly damaging	0.80
R2267:Mtss2	UTSW	8	110,728,730 (GRCm38)	missense	possibly damaging	0.80
R2269:Mtss2	UTSW	8	110,728,730 (GRCm38)	missense	possibly damaging	0.80
R2378:Mtss2	UTSW	8	110,738,349 (GRCm38)	missense	probably damaging	1.00
R3756:Mtss2	UTSW	8	110,730,060 (GRCm38)	missense	probably damaging	1.00
R4005:Mtss2	UTSW	8	110,739,041 (GRCm38)	frame shift	probably null
R4552:Mtss2	UTSW	8	110,738,505 (GRCm38)	missense	probably damaging	1.00
R4553:Mtss2	UTSW	8	110,738,505 (GRCm38)	missense	probably damaging	1.00
R4849:Mtss2	UTSW	8	110,726,243 (GRCm38)	missense	possibly damaging	0.92
R5212:Mtss2	UTSW	8	110,729,218 (GRCm38)	missense	probably damaging	1.00
R6294:Mtss2	UTSW	8	110,727,328 (GRCm38)	missense	possibly damaging	0.89
R6336:Mtss2	UTSW	8	110,732,164 (GRCm38)	missense	probably damaging	1.00
R7090:Mtss2	UTSW	8	110,730,024 (GRCm38)	missense	probably damaging	1.00
R7580:Mtss2	UTSW	8	110,737,636 (GRCm38)	missense	possibly damaging	0.95
R7581:Mtss2	UTSW	8	110,726,213 (GRCm38)	missense	possibly damaging	0.92
R7810:Mtss2	UTSW	8	110,726,201 (GRCm38)	missense	probably damaging	0.99
R8497:Mtss2	UTSW	8	110,738,590 (GRCm38)	missense	possibly damaging	0.95
R9033:Mtss2	UTSW	8	110,739,019 (GRCm38)	missense	probably damaging	1.00
R9596:Mtss2	UTSW	8	110,732,057 (GRCm38)	missense
R9640:Mtss2	UTSW	8	110,737,943 (GRCm38)	missense	probably benign	0.00
R9796:Mtss2	UTSW	8	110,730,121 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTCACCAAGTGAGTGGGCACAG -3'
(R):5'- ACCAAGTAGCTCTACAGGACGGATG -3'

Sequencing Primer
(F):5'- TGGGCACAGCAGACTACAG -3'
(R):5'- TGGCTGGGGCTACAGAATG -3'

Posted On

2013-07-30