Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Msln'

550237

Institutional Source

Beutler Lab

Gene Symbol

Msln

Ensembl Gene

ENSMUSG00000063011

Gene Name

mesothelin

Synonyms

MPF, megakaryocyte potentiating factor

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25748614-25754327 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25750080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 444 (C444S)

Ref Sequence

ENSEMBL: ENSMUSP00000075279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047098] [ENSMUST00000075884]

AlphaFold

Q61468

Predicted Effect

probably benign
Transcript: ENSMUST00000047098

SMART Domains

Protein: ENSMUSP00000049020
Gene: ENSMUSG00000041062

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Mesothelin	29	589	2.8e-70	PFAM
low complexity region	633	653	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075884
AA Change: C444S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075279
Gene: ENSMUSG00000063011
AA Change: C444S

Domain	Start	End	E-Value	Type
Pfam:Mesothelin	1	624	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disruptions in this allele display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362	A523S	possibly damaging	Het
Abhd18	A	C	3: 40,916,738	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,940,806	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Ivl	T	C	3: 92,572,242	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	probably damaging	Het

Other mutations in Msln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Msln	APN	17	25750030	critical splice donor site	probably null
IGL02986:Msln	APN	17	25752933	splice site	probably benign
R0349:Msln	UTSW	17	25750276	missense	possibly damaging	0.69
R0562:Msln	UTSW	17	25753006	missense	probably benign	0.16
R0845:Msln	UTSW	17	25750796	missense	probably damaging	1.00
R1256:Msln	UTSW	17	25754183	missense	probably damaging	1.00
R1305:Msln	UTSW	17	25753027	missense	probably benign	0.00
R1651:Msln	UTSW	17	25753408	missense	probably benign	0.00
R1930:Msln	UTSW	17	25751922	missense	probably damaging	0.99
R1996:Msln	UTSW	17	25754219	start codon destroyed	possibly damaging	0.94
R4532:Msln	UTSW	17	25750724	missense	probably damaging	0.98
R5004:Msln	UTSW	17	25754219	start codon destroyed	possibly damaging	0.94
R5157:Msln	UTSW	17	25752983	missense	probably benign	0.01
R5159:Msln	UTSW	17	25751589	missense	probably benign	0.01
R5510:Msln	UTSW	17	25749873	missense	probably benign	0.15
R6385:Msln	UTSW	17	25751141	missense	probably benign	0.19
R6650:Msln	UTSW	17	25750170	missense	probably benign	0.00
R6682:Msln	UTSW	17	25753019	missense	probably damaging	0.99
R7472:Msln	UTSW	17	25750734	missense	possibly damaging	0.95
R8085:Msln	UTSW	17	25752968	nonsense	probably null
R8289:Msln	UTSW	17	25748906	missense	possibly damaging	0.50
R9137:Msln	UTSW	17	25750110	missense	probably benign	0.24
R9217:Msln	UTSW	17	25751151	missense	probably benign	0.02
R9309:Msln	UTSW	17	25751174	missense	possibly damaging	0.68
R9311:Msln	UTSW	17	25753016	missense	probably benign	0.09
R9441:Msln	UTSW	17	25750757	missense	probably benign	0.02
R9652:Msln	UTSW	17	25749068	missense	probably damaging	1.00
R9723:Msln	UTSW	17	25750034	missense	possibly damaging	0.55
R9798:Msln	UTSW	17	25753797	missense	probably benign	0.01
X0002:Msln	UTSW	17	25752310	splice site	probably null
Z1176:Msln	UTSW	17	25753794	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- TCTGGTAGAGGAGACCCAGATG -3'
(R):5'- TGCTCAAAGTCAGCAAAGGAC -3'

Sequencing Primer
(F):5'- GCCTCTGGCTGCACTTG -3'
(R):5'- GATGAATGCTCAGGTAACATCTAC -3'

Posted On

2019-05-15