Mutagenetix > Incidental Mutation

Incidental Mutation 'R5159:Msln'

396906

Institutional Source

Beutler Lab

Gene Symbol

Msln

Ensembl Gene

ENSMUSG00000063011

Gene Name

mesothelin

Synonyms

megakaryocyte potentiating factor, MPF

MMRRC Submission

042741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5159 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25967587-25973352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25970563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 231 (S231G)

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 benign
Transcript: ENSMUST00000075884
AA Change: S231G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000075279
Gene: ENSMUSG00000063011
AA Change: S231G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102319

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (63/63)

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
9930111J21Rik1	T	C	11: 48,839,352 (GRCm39)	T412A	probably benign	Het
Aldh5a1	T	A	13: 25,097,776 (GRCm39)	M420L	possibly damaging	Het
Armc2	A	G	10: 41,884,711 (GRCm39)	S77P	probably damaging	Het
Avil	A	G	10: 126,856,317 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,100,530 (GRCm39)	H323R	probably damaging	Het
Bmp5	T	A	9: 75,801,035 (GRCm39)	F388L	probably damaging	Het
Brca2	T	G	5: 150,465,573 (GRCm39)	V1779G	possibly damaging	Het
Cblb	T	A	16: 51,932,483 (GRCm39)	S147T	probably damaging	Het
Cblc	T	C	7: 19,519,233 (GRCm39)	E409G	probably benign	Het
Cdc34b	C	T	11: 94,632,886 (GRCm39)	R29W	probably damaging	Het
Clic6	T	A	16: 92,324,954 (GRCm39)	Y371N	probably benign	Het
Col5a2	A	G	1: 45,425,991 (GRCm39)		probably null	Het
Coro1a	A	T	7: 126,302,221 (GRCm39)	V42D	probably damaging	Het
Cpa3	C	T	3: 20,281,387 (GRCm39)	C173Y	probably damaging	Het
Crb1	A	C	1: 139,170,756 (GRCm39)	V817G	probably damaging	Het
Cyp2c39	A	G	19: 39,549,378 (GRCm39)	T299A	possibly damaging	Het
Dock5	G	A	14: 68,029,738 (GRCm39)	R1019C	probably benign	Het
Exoc8	T	C	8: 125,622,952 (GRCm39)	T472A	probably benign	Het
Fancc	A	G	13: 63,469,679 (GRCm39)		probably null	Het
Fcgbpl1	T	A	7: 27,852,733 (GRCm39)	M1340K	probably benign	Het
Inpp5d	T	C	1: 87,604,064 (GRCm39)	L244P	probably damaging	Het
Ireb2	A	G	9: 54,799,831 (GRCm39)	N424S	probably benign	Het
Krt35	T	C	11: 99,984,875 (GRCm39)	D261G	probably damaging	Het
Lipc	T	A	9: 70,720,192 (GRCm39)	I272L	probably benign	Het
Lpcat3	A	G	6: 124,676,357 (GRCm39)		probably benign	Het
Lzts1	T	C	8: 69,591,236 (GRCm39)	D304G	probably benign	Het
Mdn1	A	G	4: 32,774,008 (GRCm39)	I5540V	possibly damaging	Het
Mup8	G	A	4: 60,221,062 (GRCm39)	T101M	probably benign	Het
Myh8	T	C	11: 67,179,179 (GRCm39)	I524T	probably damaging	Het
Pappa2	A	G	1: 158,589,189 (GRCm39)	C1679R	probably damaging	Het
Pcdhb1	T	C	18: 37,399,416 (GRCm39)	S456P	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,719 (GRCm39)	N389S	probably benign	Het
Pitrm1	C	A	13: 6,617,507 (GRCm39)	S620R	probably benign	Het
Plod3	T	A	5: 137,023,932 (GRCm39)		probably benign	Het
Por	A	T	5: 135,759,771 (GRCm39)	Q194L	probably benign	Het
Prkag3	A	T	1: 74,780,646 (GRCm39)	Y396N	probably damaging	Het
R3hcc1	T	C	14: 69,935,053 (GRCm39)		probably null	Het
Rcan3	C	T	4: 135,152,592 (GRCm39)	S43N	probably damaging	Het
Rhot1	A	G	11: 80,111,098 (GRCm39)	T31A	probably damaging	Het
Rnps1	T	G	17: 24,637,486 (GRCm39)	S43A	unknown	Het
Rp1	T	C	1: 4,416,426 (GRCm39)	D1562G	possibly damaging	Het
Rps19-ps13	A	G	18: 40,859,428 (GRCm39)		noncoding transcript	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Smc2	G	A	4: 52,460,181 (GRCm39)	R519Q	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Sptbn2	A	G	19: 4,787,885 (GRCm39)	T955A	probably benign	Het
Stfa3	T	C	16: 36,272,581 (GRCm39)	K40E	probably damaging	Het
Tmem87b	A	G	2: 128,666,378 (GRCm39)	E75G	probably benign	Het
Tmprss15	T	C	16: 78,800,298 (GRCm39)	Q595R	probably benign	Het
Trak1	A	T	9: 121,289,478 (GRCm39)	I597F	probably damaging	Het
Trat1	T	C	16: 48,555,300 (GRCm39)	D144G	probably damaging	Het
Trim25	T	C	11: 88,890,358 (GRCm39)	V15A	probably benign	Het
Tulp1	A	C	17: 28,578,034 (GRCm39)		probably null	Het
Txndc15	T	A	13: 55,865,734 (GRCm39)	M66K	probably benign	Het
Vmn1r206	T	A	13: 22,804,775 (GRCm39)	N144I	probably damaging	Het
Wwc2	T	C	8: 48,353,796 (GRCm39)	T113A	probably benign	Het
Xpo5	A	C	17: 46,528,535 (GRCm39)	E313D	probably damaging	Het
Zfp790	C	T	7: 29,529,192 (GRCm39)	H626Y	probably benign	Het

Other mutations in Msln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Msln	APN	17	25,969,004 (GRCm39)	critical splice donor site	probably null
IGL02986:Msln	APN	17	25,971,907 (GRCm39)	splice site	probably benign
R0349:Msln	UTSW	17	25,969,250 (GRCm39)	missense	possibly damaging	0.69
R0562:Msln	UTSW	17	25,971,980 (GRCm39)	missense	probably benign	0.16
R0845:Msln	UTSW	17	25,969,770 (GRCm39)	missense	probably damaging	1.00
R1256:Msln	UTSW	17	25,973,157 (GRCm39)	missense	probably damaging	1.00
R1305:Msln	UTSW	17	25,972,001 (GRCm39)	missense	probably benign	0.00
R1651:Msln	UTSW	17	25,972,382 (GRCm39)	missense	probably benign	0.00
R1930:Msln	UTSW	17	25,970,896 (GRCm39)	missense	probably damaging	0.99
R1996:Msln	UTSW	17	25,973,193 (GRCm39)	start codon destroyed	possibly damaging	0.94
R4532:Msln	UTSW	17	25,969,698 (GRCm39)	missense	probably damaging	0.98
R5004:Msln	UTSW	17	25,973,193 (GRCm39)	start codon destroyed	possibly damaging	0.94
R5157:Msln	UTSW	17	25,971,957 (GRCm39)	missense	probably benign	0.01
R5510:Msln	UTSW	17	25,968,847 (GRCm39)	missense	probably benign	0.15
R6385:Msln	UTSW	17	25,970,115 (GRCm39)	missense	probably benign	0.19
R6650:Msln	UTSW	17	25,969,144 (GRCm39)	missense	probably benign	0.00
R6682:Msln	UTSW	17	25,971,993 (GRCm39)	missense	probably damaging	0.99
R7091:Msln	UTSW	17	25,969,054 (GRCm39)	missense	probably damaging	1.00
R7472:Msln	UTSW	17	25,969,708 (GRCm39)	missense	possibly damaging	0.95
R8085:Msln	UTSW	17	25,971,942 (GRCm39)	nonsense	probably null
R8289:Msln	UTSW	17	25,967,880 (GRCm39)	missense	possibly damaging	0.50
R9137:Msln	UTSW	17	25,969,084 (GRCm39)	missense	probably benign	0.24
R9217:Msln	UTSW	17	25,970,125 (GRCm39)	missense	probably benign	0.02
R9309:Msln	UTSW	17	25,970,148 (GRCm39)	missense	possibly damaging	0.68
R9311:Msln	UTSW	17	25,971,990 (GRCm39)	missense	probably benign	0.09
R9441:Msln	UTSW	17	25,969,731 (GRCm39)	missense	probably benign	0.02
R9652:Msln	UTSW	17	25,968,042 (GRCm39)	missense	probably damaging	1.00
R9723:Msln	UTSW	17	25,969,008 (GRCm39)	missense	possibly damaging	0.55
R9798:Msln	UTSW	17	25,972,771 (GRCm39)	missense	probably benign	0.01
X0002:Msln	UTSW	17	25,971,284 (GRCm39)	splice site	probably null
Z1176:Msln	UTSW	17	25,972,768 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- TCAGAGACCAAGAATGTGACCC -3'
(R):5'- ACAGGGCGTGTATGGATTTC -3'

Sequencing Primer
(F):5'- ATGTGACCCCAGGTAGACATCG -3'
(R):5'- ATGGATTTCAAGTGAGTGAGGC -3'

Posted On

2016-06-21