Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Msl2'

545702

Institutional Source

Beutler Lab

Gene Symbol

Msl2

Ensembl Gene

ENSMUSG00000066415

Gene Name

MSL complex subunit 2

Synonyms

Msl2l1, E130103E02Rik, Rnf184

MMRRC Submission

045123-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100956154-100981999 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100957335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 2 (N2D)

Ref Sequence

ENSEMBL: ENSMUSP00000082270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085177] [ENSMUST00000189616]

AlphaFold

Q69ZF8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085177
AA Change: N2D

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000082270
Gene: ENSMUSG00000066415
AA Change: N2D

Domain	Start	End	E-Value	Type
Pfam:zf-RING_10	42	111	2.8e-36	PFAM
low complexity region	265	281	N/A	INTRINSIC
low complexity region	340	351	N/A	INTRINSIC
low complexity region	406	424	N/A	INTRINSIC
CXC	457	504	1.6e-9	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000189616
AA Change: N2D

SMART Domains

Protein: ENSMUSP00000139396
Gene: ENSMUSG00000066415
AA Change: N2D

Domain	Start	End	E-Value	Type
PDB:4B86\|L	1	47	2e-28	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,974,326 (GRCm39)	S203T	probably damaging	Het
Adat1	A	T	8: 112,716,494 (GRCm39)	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,014,780 (GRCm39)	V56L	probably benign	Het
Ascc3	T	A	10: 50,592,725 (GRCm39)	L1134I	possibly damaging	Het
C3	T	G	17: 57,524,286 (GRCm39)	D948A	probably damaging	Het
Ccdc121rt3	A	C	5: 112,503,395 (GRCm39)	M103R	probably benign	Het
Ccdc40	A	G	11: 119,122,612 (GRCm39)	E138G	possibly damaging	Het
Cd80	A	G	16: 38,306,866 (GRCm39)		probably null	Het
Cdca7	T	A	2: 72,309,873 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,079,030 (GRCm39)	S447G	probably benign	Het
Cmya5	C	T	13: 93,205,786 (GRCm39)		probably null	Het
Cnnm2	A	T	19: 46,750,989 (GRCm39)	I260F	probably damaging	Het
Cnnm2	T	A	19: 46,847,379 (GRCm39)		probably null	Het
Col1a2	T	C	6: 4,534,639 (GRCm39)	L881P	unknown	Het
Crebbp	A	T	16: 3,935,187 (GRCm39)	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,321,637 (GRCm39)	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,370,005 (GRCm39)	P4477S	probably benign	Het
Donson	A	G	16: 91,478,218 (GRCm39)	Y428H	probably damaging	Het
Dsp	G	T	13: 38,375,716 (GRCm39)	W1167L	probably benign	Het
Elmo2	C	T	2: 165,136,961 (GRCm39)	V592M	probably damaging	Het
Enpp3	T	A	10: 24,702,093 (GRCm39)	E60D	probably damaging	Het
Erfl	A	T	7: 24,631,089 (GRCm39)		probably null	Het
Fam83b	TAAGA	T	9: 76,409,394 (GRCm39)		probably null	Het
Fbxo38	A	G	18: 62,669,295 (GRCm39)	C52R	probably damaging	Het
Gm10912	T	C	2: 103,897,055 (GRCm39)	W65R	probably damaging	Het
Gm43518	A	T	5: 124,074,490 (GRCm39)	M44L	probably benign	Het
Gnb1	T	A	4: 155,637,913 (GRCm39)	D212E	probably damaging	Het
Gnl1	A	G	17: 36,299,620 (GRCm39)	N597S	probably damaging	Het
Gprin1	T	G	13: 54,886,855 (GRCm39)	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,586,834 (GRCm39)	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,496,193 (GRCm39)	S29P	probably damaging	Het
Ints6	A	G	14: 62,951,786 (GRCm39)	V232A	probably damaging	Het
Jup	A	G	11: 100,270,379 (GRCm39)	L376P	probably damaging	Het
Kdr	A	T	5: 76,132,920 (GRCm39)	Y119*	probably null	Het
Kif1a	T	G	1: 92,993,820 (GRCm39)	T377P	probably benign	Het
Lama5	C	A	2: 179,822,524 (GRCm39)	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,313,552 (GRCm39)	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,356,763 (GRCm39)	Q255*	probably null	Het
Msh3	A	C	13: 92,372,096 (GRCm39)	D891E	probably damaging	Het
Myo19	T	C	11: 84,791,373 (GRCm39)	L476P	probably damaging	Het
Nbeal2	G	A	9: 110,467,686 (GRCm39)	R501W	probably damaging	Het
Nfasc	C	A	1: 132,548,787 (GRCm39)	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,987,319 (GRCm39)	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,401,825 (GRCm39)	D34E	probably damaging	Het
Nup205	T	A	6: 35,220,871 (GRCm39)	V1891D	probably benign	Het
Or51g2	T	A	7: 102,623,175 (GRCm39)	N8I	possibly damaging	Het
Or5g29	T	A	2: 85,420,942 (GRCm39)	D19E	probably benign	Het
Or5k1b	T	C	16: 58,581,482 (GRCm39)	N19S	probably benign	Het
Or8g22	G	T	9: 38,958,379 (GRCm39)	C156*	probably null	Het
Oscp1	G	A	4: 125,976,783 (GRCm39)		probably null	Het
Pcdhgb7	A	G	18: 37,886,086 (GRCm39)	T419A	probably damaging	Het
Pdzph1	T	C	17: 59,281,121 (GRCm39)	D387G	probably benign	Het
Phc1	A	G	6: 122,311,990 (GRCm39)	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,599,061 (GRCm39)	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,398,752 (GRCm39)	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,206,738 (GRCm39)	L250Q	probably damaging	Het
Ror1	T	A	4: 100,265,108 (GRCm39)	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,799,722 (GRCm39)		probably null	Het
Rundc3b	T	C	5: 8,562,348 (GRCm39)	K340R	probably null	Het
Scn1a	T	A	2: 66,148,243 (GRCm39)	T1101S	probably damaging	Het
Sdk1	C	G	5: 142,080,412 (GRCm39)		probably null	Het
Skic2	A	G	17: 35,064,183 (GRCm39)	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,041,979 (GRCm39)	M114K	probably damaging	Het
Sorl1	A	C	9: 41,881,047 (GRCm39)	I2158S	probably benign	Het
Strip1	A	T	3: 107,534,111 (GRCm39)	F174L	probably benign	Het
Sucnr1	A	T	3: 59,993,699 (GRCm39)	I76L	probably benign	Het
Syt17	C	T	7: 118,007,242 (GRCm39)	V412I	probably benign	Het
Tie1	T	A	4: 118,346,850 (GRCm39)	H18L	probably benign	Het
Tpp1	T	G	7: 105,398,129 (GRCm39)	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,148,852 (GRCm39)	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,499,742 (GRCm39)	N260S	probably benign	Het
Vps41	C	A	13: 19,026,438 (GRCm39)	T512K	possibly damaging	Het
Vps52	A	T	17: 34,178,293 (GRCm39)	M147L	probably benign	Het
Ywhaq	A	G	12: 21,441,752 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,184,387 (GRCm39)	N139S	probably benign	Het

Other mutations in Msl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Msl2	APN	9	100,978,269 (GRCm39)	missense	probably benign	0.13
IGL02496:Msl2	APN	9	100,977,854 (GRCm39)	missense	possibly damaging	0.93
IGL02798:Msl2	APN	9	100,957,430 (GRCm39)	missense	probably benign	0.06
IGL03235:Msl2	APN	9	100,977,967 (GRCm39)	missense	probably benign	0.03
anguished	UTSW	9	100,979,174 (GRCm39)	missense	possibly damaging	0.66
Appalled	UTSW	9	100,978,042 (GRCm39)	missense	probably benign
Crestfallen	UTSW	9	100,978,290 (GRCm39)	nonsense	probably null
R0497:Msl2	UTSW	9	100,978,493 (GRCm39)	missense	probably benign	0.00
R1288:Msl2	UTSW	9	100,979,308 (GRCm39)	missense	probably benign	0.01
R2015:Msl2	UTSW	9	100,957,304 (GRCm39)	start gained	probably benign
R2038:Msl2	UTSW	9	100,979,183 (GRCm39)	missense	probably damaging	1.00
R2238:Msl2	UTSW	9	100,978,569 (GRCm39)	missense	probably benign	0.41
R4393:Msl2	UTSW	9	100,978,676 (GRCm39)	missense	probably damaging	1.00
R4827:Msl2	UTSW	9	100,979,350 (GRCm39)	missense	probably benign	0.00
R5290:Msl2	UTSW	9	100,978,606 (GRCm39)	splice site	probably null
R5567:Msl2	UTSW	9	100,978,936 (GRCm39)	missense	possibly damaging	0.67
R5934:Msl2	UTSW	9	100,979,017 (GRCm39)	missense	probably damaging	1.00
R5940:Msl2	UTSW	9	100,978,290 (GRCm39)	nonsense	probably null
R6339:Msl2	UTSW	9	100,978,949 (GRCm39)	missense	probably benign
R6736:Msl2	UTSW	9	100,978,201 (GRCm39)	missense	probably damaging	0.99
R6950:Msl2	UTSW	9	100,979,174 (GRCm39)	missense	possibly damaging	0.66
R6971:Msl2	UTSW	9	100,978,042 (GRCm39)	missense	probably benign
R7408:Msl2	UTSW	9	100,979,316 (GRCm39)	missense	probably benign	0.08
R7955:Msl2	UTSW	9	100,979,354 (GRCm39)	missense	possibly damaging	0.69
R8069:Msl2	UTSW	9	100,978,159 (GRCm39)	missense	probably benign
R8281:Msl2	UTSW	9	100,978,894 (GRCm39)	missense	probably benign	0.10
R8437:Msl2	UTSW	9	100,978,167 (GRCm39)	missense	probably benign	0.25
R9162:Msl2	UTSW	9	100,978,928 (GRCm39)	missense	probably benign
R9675:Msl2	UTSW	9	100,978,555 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCAGCTTCACAAACTTGCAC -3'
(R):5'- CTTAAGACGAACTACCGGCC -3'

Sequencing Primer
(F):5'- CACAAACTTGCACGGATTTTGG -3'
(R):5'- GTTCACGTTACTACTGCCAAAGG -3'

Posted On

2019-05-13