Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Mysm1'

574011

Institutional Source

Beutler Lab

Gene Symbol

Mysm1

Ensembl Gene

ENSMUSG00000062627

Gene Name

myb-like, SWIRM and MPN domains 1

Synonyms

C130067A03Rik, C530050H10Rik

MMRRC Submission

045481-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94942040-94979100 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94961727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 447 (I447L)

Ref Sequence

ENSEMBL: ENSMUSP00000075269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075872]

AlphaFold

Q69Z66

Predicted Effect

probably benign
Transcript: ENSMUST00000075872
AA Change: I447L

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075269
Gene: ENSMUSG00000062627
AA Change: I447L

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
SANT	114	162	3.24e-13	SMART
low complexity region	214	229	N/A	INTRINSIC
Pfam:SWIRM	365	452	3.1e-22	PFAM
JAB_MPN	569	691	1.63e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

MGI Phenotype

PHENOTYPE: Homozygotes exhibit pigmentation, epidermis, hair follicle and hair cycle abnormalities. Abnormalities in behavior, the hematopoietic and immune systems, body size, metabolism, and skeletal and eye phenotypes are also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679 (GRCm38)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593 (GRCm38)	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466 (GRCm38)		probably null	Het
Arfgef1	T	A	1: 10,180,897 (GRCm38)	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060 (GRCm38)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882 (GRCm38)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
Cby2	A	G	14: 75,592,637 (GRCm38)	S39P	probably benign	Het
Cdc25b	A	G	2: 131,194,654 (GRCm38)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667 (GRCm38)	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378 (GRCm38)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829 (GRCm38)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629 (GRCm38)	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483 (GRCm38)	H639N	probably damaging	Het
Dnah11	T	C	12: 118,125,785 (GRCm38)	E1182G	probably damaging	Het
Dnah11	T	G	12: 118,027,477 (GRCm38)	T2385P	probably benign	Het
Dok7	T	C	5: 35,066,471 (GRCm38)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393 (GRCm38)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254 (GRCm38)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Hnmt	T	A	2: 24,003,880 (GRCm38)	T201S	probably benign	Het
Jup	G	T	11: 100,378,351 (GRCm38)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059 (GRCm38)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644 (GRCm38)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000 (GRCm38)	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948 (GRCm38)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673 (GRCm38)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090 (GRCm38)	D239N		Het
Mgam	T	A	6: 40,666,854 (GRCm38)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142 (GRCm38)	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823 (GRCm38)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291 (GRCm38)	S467G	unknown	Het
Nav3	T	C	10: 109,852,934 (GRCm38)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173 (GRCm38)	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676 (GRCm38)	I1032N	probably damaging	Het
Oog2	A	G	4: 144,195,281 (GRCm38)	K254E	probably benign	Het
Or10ac1	A	G	6: 42,538,728 (GRCm38)	F98S	possibly damaging	Het
Or52z12	A	T	7: 103,584,381 (GRCm38)	I120L	possibly damaging	Het
Or5b98	A	G	19: 12,954,447 (GRCm38)	N286S	probably damaging	Het
Or5d41	A	T	2: 88,225,022 (GRCm38)	Y3*	probably null	Het
Or5g25	T	A	2: 85,647,424 (GRCm38)	D299V	possibly damaging	Het
Or5g27	A	G	2: 85,579,296 (GRCm38)	D19G	probably benign	Het
Or6b1	T	G	6: 42,838,746 (GRCm38)	Y288*	probably null	Het
Or6c6	A	T	10: 129,350,557 (GRCm38)		probably benign	Het
Or8h10	G	A	2: 86,978,157 (GRCm38)	T213I	probably benign	Het
Osbpl11	T	A	16: 33,236,279 (GRCm38)	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510 (GRCm38)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863 (GRCm38)	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867 (GRCm38)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376 (GRCm38)	F272S	probably damaging	Het
Pramel32	C	A	4: 88,627,965 (GRCm38)	R380L	probably benign	Het
Ptgdr	A	T	14: 44,858,232 (GRCm38)		probably null	Het
Ptprf	C	T	4: 118,226,523 (GRCm38)	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148 (GRCm38)	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655 (GRCm38)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884 (GRCm38)	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367 (GRCm38)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286 (GRCm38)		probably null	Het
Scn5a	A	T	9: 119,486,530 (GRCm38)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268 (GRCm38)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068 (GRCm38)	C538S	probably benign	Het
Stard6	T	C	18: 70,498,647 (GRCm38)		probably null	Het
Strip2	T	A	6: 29,927,613 (GRCm38)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085 (GRCm38)	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690 (GRCm38)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097 (GRCm38)	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657 (GRCm38)		probably benign	Het
Vmn1r42	T	C	6: 89,845,513 (GRCm38)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503 (GRCm38)		probably null	Het
Wdfy4	A	C	14: 33,068,906 (GRCm38)	V2188G		Het
Zfp623	T	C	15: 75,947,398 (GRCm38)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155 (GRCm38)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104 (GRCm38)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053 (GRCm38)	V536L	probably damaging	Het

Other mutations in Mysm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Mysm1	APN	4	94,972,909 (GRCm38)	splice site	probably benign
IGL00657:Mysm1	APN	4	94,960,365 (GRCm38)	missense	probably benign	0.17
IGL00908:Mysm1	APN	4	94,958,935 (GRCm38)	missense	probably damaging	1.00
IGL01095:Mysm1	APN	4	94,967,869 (GRCm38)	critical splice donor site	probably null
IGL02454:Mysm1	APN	4	94,970,504 (GRCm38)	splice site	probably benign
IGL02544:Mysm1	APN	4	94,952,306 (GRCm38)	missense	probably damaging	1.00
IGL02815:Mysm1	APN	4	94,957,048 (GRCm38)	critical splice donor site	probably null
IGL02966:Mysm1	APN	4	94,975,286 (GRCm38)	missense	probably benign	0.31
IGL03273:Mysm1	APN	4	94,965,718 (GRCm38)	missense	probably damaging	1.00
R1746:Mysm1	UTSW	4	94,948,411 (GRCm38)	nonsense	probably null
R1826:Mysm1	UTSW	4	94,970,686 (GRCm38)	missense	probably benign	0.01
R1980:Mysm1	UTSW	4	94,952,213 (GRCm38)	missense	probably benign	0.27
R3424:Mysm1	UTSW	4	94,965,321 (GRCm38)	missense	probably benign	0.05
R3700:Mysm1	UTSW	4	94,970,652 (GRCm38)	missense	probably benign	0.04
R4243:Mysm1	UTSW	4	94,969,011 (GRCm38)	missense	probably benign	0.15
R4798:Mysm1	UTSW	4	94,965,673 (GRCm38)	missense	probably benign	0.00
R4884:Mysm1	UTSW	4	94,958,948 (GRCm38)	missense	probably damaging	0.98
R4983:Mysm1	UTSW	4	94,972,970 (GRCm38)	missense	probably benign	0.01
R5024:Mysm1	UTSW	4	94,951,016 (GRCm38)	missense	possibly damaging	0.47
R5213:Mysm1	UTSW	4	94,948,377 (GRCm38)	missense	probably damaging	0.96
R5758:Mysm1	UTSW	4	94,952,361 (GRCm38)	missense	probably damaging	0.98
R6129:Mysm1	UTSW	4	94,967,955 (GRCm38)	missense	probably damaging	1.00
R7535:Mysm1	UTSW	4	94,952,215 (GRCm38)	missense	probably benign	0.01
R7793:Mysm1	UTSW	4	94,965,132 (GRCm38)	missense	probably damaging	0.99
R7861:Mysm1	UTSW	4	94,946,967 (GRCm38)	makesense	probably null
R7923:Mysm1	UTSW	4	94,961,765 (GRCm38)	missense	probably damaging	1.00
R8117:Mysm1	UTSW	4	94,960,390 (GRCm38)	nonsense	probably null
R8352:Mysm1	UTSW	4	94,975,273 (GRCm38)	missense	probably damaging	0.97
R8389:Mysm1	UTSW	4	94,965,612 (GRCm38)	missense	probably benign	0.00
R8452:Mysm1	UTSW	4	94,975,273 (GRCm38)	missense	probably damaging	0.97
R8738:Mysm1	UTSW	4	94,967,959 (GRCm38)	missense	probably damaging	1.00
R9036:Mysm1	UTSW	4	94,947,057 (GRCm38)	missense	probably benign	0.23
R9497:Mysm1	UTSW	4	94,960,398 (GRCm38)	missense	probably benign	0.06
X0021:Mysm1	UTSW	4	94,975,225 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCGTCTCAACTCGTATTTGTAAAG -3'
(R):5'- GGGCTTAGTTTTGGGGAAAGAATAC -3'

Sequencing Primer
(F):5'- AACTCGTATTTGTAAAGTAAACATGC -3'
(R):5'- TTGGGGAAAGAATACTTGTAACAC -3'

Posted On

2019-09-13