Mutagenetix > Incidental Mutation

Incidental Mutation 'R8117:Mysm1'

631258

Institutional Source

Beutler Lab

Gene Symbol

Mysm1

Ensembl Gene

ENSMUSG00000062627

Gene Name

myb-like, SWIRM and MPN domains 1

Synonyms

C130067A03Rik, C530050H10Rik

MMRRC Submission

067546-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R8117 (G1)

Quality Score

185.009

Status

Validated

Chromosome

Chromosomal Location

94830277-94867337 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 94848627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 469 (R469*)

Ref Sequence

ENSEMBL: ENSMUSP00000075269 (fasta)

Gene Model

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

AlphaFold

Q69Z66

Predicted Effect

probably null
Transcript: ENSMUST00000075872
AA Change: R469*

SMART Domains

Protein: ENSMUSP00000075269
Gene: ENSMUSG00000062627
AA Change: R469*

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: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.4%

Validation Efficiency

99% (73/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,058,078 (GRCm39)	T14A		Het
2610008E11Rik	T	C	10: 78,930,289 (GRCm39)	N42D	probably benign	Het
Ajm1	A	G	2: 25,469,246 (GRCm39)	F222L	probably benign	Het
Ankrd54	T	A	15: 78,939,641 (GRCm39)	M183L		Het
Apob	G	A	12: 8,056,435 (GRCm39)	G1639D	probably damaging	Het
B3gat2	A	G	1: 23,884,061 (GRCm39)	T283A	probably benign	Het
Bmpr2	T	G	1: 59,886,252 (GRCm39)	S296R	probably damaging	Het
Cand1	G	A	10: 119,042,721 (GRCm39)	T1123I	probably damaging	Het
Cc2d2a	T	C	5: 43,869,781 (GRCm39)	F943S	probably damaging	Het
Ccdc40	T	C	11: 119,144,211 (GRCm39)	I912T	probably benign	Het
Cdkn2d	G	A	9: 21,200,447 (GRCm39)	S108L	probably benign	Het
Cep295	G	A	9: 15,245,660 (GRCm39)	T932I	probably damaging	Het
Cntn5	A	G	9: 9,673,955 (GRCm39)	S716P	probably benign	Het
Col18a1	T	C	10: 76,895,808 (GRCm39)	E903G	probably benign	Het
Ctrc	T	A	4: 141,565,972 (GRCm39)	I229F	probably damaging	Het
Cyb561d2	C	T	9: 107,418,771 (GRCm39)	A18T	probably benign	Het
Dnajb4	T	A	3: 151,899,089 (GRCm39)	K46*	probably null	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dsg1c	C	T	18: 20,410,016 (GRCm39)	H495Y	probably benign	Het
Eif2b3	A	G	4: 116,879,414 (GRCm39)	D18G	probably damaging	Het
Enam	A	T	5: 88,651,385 (GRCm39)	I965L	probably benign	Het
Fhod3	T	A	18: 25,248,910 (GRCm39)	I1363K	probably damaging	Het
Fras1	A	G	5: 96,855,245 (GRCm39)	Y1918C	probably damaging	Het
Fsip2	T	A	2: 82,823,296 (GRCm39)	I6343N	possibly damaging	Het
Gpr45	G	C	1: 43,072,475 (GRCm39)	V373L	probably damaging	Het
Hdac2	G	T	10: 36,873,966 (GRCm39)	Q365H	probably damaging	Het
Hspa12b	A	G	2: 130,980,389 (GRCm39)	T103A	possibly damaging	Het
Ifrd1	A	T	12: 40,262,350 (GRCm39)	S287T	probably benign	Het
Igkv6-15	G	A	6: 70,383,622 (GRCm39)	P60S	possibly damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kctd19	T	A	8: 106,122,069 (GRCm39)	D109V	unknown	Het
Matn4	G	A	2: 164,234,851 (GRCm39)	S540L	probably damaging	Het
Matn4	T	C	2: 164,241,682 (GRCm39)	K248E	probably benign	Het
Muc16	G	A	9: 18,420,206 (GRCm39)	Q97*	probably null	Het
Mup18	A	G	4: 61,592,238 (GRCm39)	C9R	unknown	Het
Myh1	A	G	11: 67,113,031 (GRCm39)	K1845R	probably damaging	Het
Naip1	T	C	13: 100,563,509 (GRCm39)	D552G	possibly damaging	Het
Nrcam	A	G	12: 44,618,371 (GRCm39)	D787G	probably benign	Het
Nrcam	G	A	12: 44,645,365 (GRCm39)	V1256I	probably damaging	Het
Obscn	G	T	11: 58,932,980 (GRCm39)	H4799N	possibly damaging	Het
Or1f12	T	C	13: 21,722,122 (GRCm39)	K3E	probably benign	Het
Or4p4	A	G	2: 88,482,729 (GRCm39)	K78E	probably damaging	Het
Or52e18	T	C	7: 104,609,356 (GRCm39)	I194M	probably damaging	Het
Or7g22	A	G	9: 19,048,353 (GRCm39)	I21M	probably benign	Het
Pcdhgb5	T	C	18: 37,866,302 (GRCm39)	F699S	probably damaging	Het
Phtf2	T	C	5: 21,007,038 (GRCm39)	E175G	probably benign	Het
Pira1	G	A	7: 3,740,075 (GRCm39)	T340I	probably damaging	Het
Ppp2r5c	A	G	12: 110,517,519 (GRCm39)	H218R	possibly damaging	Het
Ptgs2	A	G	1: 149,979,785 (GRCm39)	R297G	probably damaging	Het
Rapgef3	A	T	15: 97,648,747 (GRCm39)	D619E	probably benign	Het
Ric1	G	A	19: 29,552,191 (GRCm39)	V321I	probably benign	Het
Ripor1	T	C	8: 106,344,105 (GRCm39)	V413A	probably damaging	Het
Rsf1	G	T	7: 97,288,464 (GRCm39)		probably null	Het
Sccpdh	A	G	1: 179,504,017 (GRCm39)	D122G	probably damaging	Het
Sec16a	A	T	2: 26,331,441 (GRCm39)	H191Q	probably benign	Het
Slco1a5	G	T	6: 142,208,418 (GRCm39)	N124K	probably damaging	Het
Snrnp200	A	G	2: 127,071,051 (GRCm39)	T1111A	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Tanc2	T	A	11: 105,725,988 (GRCm39)	V384E	probably damaging	Het
Tbrg1	A	G	9: 37,568,296 (GRCm39)	F49L	possibly damaging	Het
Tecta	A	G	9: 42,288,927 (GRCm39)	F546S	probably damaging	Het
Tmem132c	A	G	5: 127,437,176 (GRCm39)	R222G	probably benign	Het
Trub2	C	T	2: 29,668,739 (GRCm39)		probably null	Het
Tti1	G	T	2: 157,849,418 (GRCm39)	P607Q	probably damaging	Het
Vmn1r62	T	A	7: 5,678,726 (GRCm39)	F136I	possibly damaging	Het
Vmn2r111	T	A	17: 22,790,469 (GRCm39)	H179L	probably benign	Het
Wdfy4	A	T	14: 32,699,063 (GRCm39)	C2703*	probably null	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wipf3	A	G	6: 54,460,816 (GRCm39)	K88R	probably benign	Het
Zfp641	C	T	15: 98,186,856 (GRCm39)	G256R	probably damaging	Het
Zfp993	T	A	4: 146,741,972 (GRCm39)	C99S	probably benign	Het

Other mutations in Mysm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Mysm1	APN	4	94,861,146 (GRCm39)	splice site	probably benign
IGL00657:Mysm1	APN	4	94,848,602 (GRCm39)	missense	probably benign	0.17
IGL00908:Mysm1	APN	4	94,847,172 (GRCm39)	missense	probably damaging	1.00
IGL01095:Mysm1	APN	4	94,856,106 (GRCm39)	critical splice donor site	probably null
IGL02454:Mysm1	APN	4	94,858,741 (GRCm39)	splice site	probably benign
IGL02544:Mysm1	APN	4	94,840,543 (GRCm39)	missense	probably damaging	1.00
IGL02815:Mysm1	APN	4	94,845,285 (GRCm39)	critical splice donor site	probably null
IGL02966:Mysm1	APN	4	94,863,523 (GRCm39)	missense	probably benign	0.31
IGL03273:Mysm1	APN	4	94,853,955 (GRCm39)	missense	probably damaging	1.00
R1746:Mysm1	UTSW	4	94,836,648 (GRCm39)	nonsense	probably null
R1826:Mysm1	UTSW	4	94,858,923 (GRCm39)	missense	probably benign	0.01
R1980:Mysm1	UTSW	4	94,840,450 (GRCm39)	missense	probably benign	0.27
R3424:Mysm1	UTSW	4	94,853,558 (GRCm39)	missense	probably benign	0.05
R3700:Mysm1	UTSW	4	94,858,889 (GRCm39)	missense	probably benign	0.04
R4243:Mysm1	UTSW	4	94,857,248 (GRCm39)	missense	probably benign	0.15
R4798:Mysm1	UTSW	4	94,853,910 (GRCm39)	missense	probably benign	0.00
R4884:Mysm1	UTSW	4	94,847,185 (GRCm39)	missense	probably damaging	0.98
R4983:Mysm1	UTSW	4	94,861,207 (GRCm39)	missense	probably benign	0.01
R5024:Mysm1	UTSW	4	94,839,253 (GRCm39)	missense	possibly damaging	0.47
R5213:Mysm1	UTSW	4	94,836,614 (GRCm39)	missense	probably damaging	0.96
R5758:Mysm1	UTSW	4	94,840,598 (GRCm39)	missense	probably damaging	0.98
R6129:Mysm1	UTSW	4	94,856,192 (GRCm39)	missense	probably damaging	1.00
R7399:Mysm1	UTSW	4	94,849,964 (GRCm39)	missense	probably benign	0.29
R7535:Mysm1	UTSW	4	94,840,452 (GRCm39)	missense	probably benign	0.01
R7793:Mysm1	UTSW	4	94,853,369 (GRCm39)	missense	probably damaging	0.99
R7861:Mysm1	UTSW	4	94,835,204 (GRCm39)	makesense	probably null
R7923:Mysm1	UTSW	4	94,850,002 (GRCm39)	missense	probably damaging	1.00
R8352:Mysm1	UTSW	4	94,863,510 (GRCm39)	missense	probably damaging	0.97
R8389:Mysm1	UTSW	4	94,853,849 (GRCm39)	missense	probably benign	0.00
R8452:Mysm1	UTSW	4	94,863,510 (GRCm39)	missense	probably damaging	0.97
R8738:Mysm1	UTSW	4	94,856,196 (GRCm39)	missense	probably damaging	1.00
R9036:Mysm1	UTSW	4	94,835,294 (GRCm39)	missense	probably benign	0.23
R9497:Mysm1	UTSW	4	94,848,635 (GRCm39)	missense	probably benign	0.06
X0021:Mysm1	UTSW	4	94,863,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGTGAATTTGAAGGGTTTCC -3'
(R):5'- TTTCATTGAGCATAACAGCGC -3'

Sequencing Primer
(F):5'- TGGTCTCTGTTTCATAATTAAATGGC -3'
(R):5'- GCGCTATTTAAAAACTAAGTGGCAC -3'

Posted On

2020-06-30