Mutagenetix > Incidental Mutation

Incidental Mutation 'R0562:Msln'

45982

Institutional Source

Beutler Lab

Gene Symbol

Msln

Ensembl Gene

ENSMUSG00000063011

Gene Name

mesothelin

Synonyms

megakaryocyte potentiating factor, MPF

MMRRC Submission

038753-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0562 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

25967587-25973352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25971980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 79 (M79K)

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: M79K

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075279
Gene: ENSMUSG00000063011
AA Change: M79K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	C	T	7: 131,027,518 (GRCm39)	Q63*	probably null	Het
Adam26b	A	T	8: 43,973,408 (GRCm39)	N531K	probably benign	Het
Agt	A	G	8: 125,286,014 (GRCm39)	I356T	probably benign	Het
Ankmy1	A	T	1: 92,827,413 (GRCm39)		probably benign	Het
Anxa3	C	T	5: 96,960,743 (GRCm39)	S49L	possibly damaging	Het
Arap3	C	A	18: 38,108,593 (GRCm39)	R1279L	probably damaging	Het
Azin1	A	G	15: 38,493,825 (GRCm39)	I266T	probably benign	Het
Btnl7-ps	T	C	17: 34,752,498 (GRCm39)		noncoding transcript	Het
Car5a	T	A	8: 122,671,469 (GRCm39)	T22S	probably benign	Het
Card6	A	G	15: 5,134,648 (GRCm39)	I185T	probably damaging	Het
Ccdc81	T	C	7: 89,552,437 (GRCm39)	D11G	probably benign	Het
Cep170b	T	C	12: 112,705,623 (GRCm39)	V1127A	probably benign	Het
Ces1h	T	C	8: 94,083,771 (GRCm39)	I390M	unknown	Het
Col9a1	T	A	1: 24,218,360 (GRCm39)		probably null	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Cyb561a3	T	C	19: 10,564,074 (GRCm39)	V138A	probably benign	Het
Dcaf1	T	C	9: 106,721,321 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,963,726 (GRCm39)	Y2516H	probably damaging	Het
Dsc2	T	A	18: 20,174,594 (GRCm39)	N521Y	probably damaging	Het
Dst	G	A	1: 34,267,062 (GRCm39)	E4835K	probably damaging	Het
Duox2	T	C	2: 122,120,080 (GRCm39)	E810G	probably damaging	Het
Dusp15	T	C	2: 152,793,268 (GRCm39)	N3S	possibly damaging	Het
Eif1ad9	A	G	12: 88,296,436 (GRCm39)	D138G	unknown	Het
Epha4	T	C	1: 77,365,124 (GRCm39)	K625R	probably benign	Het
Fcgbpl1	G	A	7: 27,862,115 (GRCm39)	V2394I	probably benign	Het
Gata5	C	T	2: 179,969,552 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,252,227 (GRCm39)	N159S	probably damaging	Het
Hivep3	T	A	4: 119,953,751 (GRCm39)	M689K	probably benign	Het
Ift56	T	A	6: 38,378,064 (GRCm39)	V292E	probably damaging	Het
Ilvbl	G	T	10: 78,419,321 (GRCm39)	G499C	probably damaging	Het
Inpp4b	T	C	8: 82,494,780 (GRCm39)	I65T	possibly damaging	Het
Jarid2	T	C	13: 45,055,835 (GRCm39)	V208A	probably damaging	Het
Kcnh4	T	C	11: 100,641,070 (GRCm39)	M460V	possibly damaging	Het
Klhl22	A	G	16: 17,610,488 (GRCm39)	N580D	probably benign	Het
Klk15	T	A	7: 43,588,269 (GRCm39)	C192*	probably null	Het
Klk1b9	A	G	7: 43,445,090 (GRCm39)	E194G	probably damaging	Het
Lama1	G	T	17: 68,122,954 (GRCm39)	G2779V	probably damaging	Het
Lmln	C	T	16: 32,937,455 (GRCm39)	R607*	probably null	Het
Maea	T	C	5: 33,529,645 (GRCm39)	V377A	probably benign	Het
Matk	A	T	10: 81,095,525 (GRCm39)	Y115F	probably benign	Het
Mettl18	A	G	1: 163,824,062 (GRCm39)	K128E	probably benign	Het
Mrps22	T	C	9: 98,474,746 (GRCm39)	H246R	probably benign	Het
Myf6	G	A	10: 107,330,420 (GRCm39)	P49L	probably benign	Het
Nat1	C	T	8: 67,943,963 (GRCm39)	T113I	possibly damaging	Het
Ncor2	C	T	5: 125,162,093 (GRCm39)	V394M	unknown	Het
Oas1c	T	C	5: 120,943,669 (GRCm39)		probably benign	Het
Or8k21	T	A	2: 86,144,869 (GRCm39)	T254S	probably benign	Het
Otp	A	T	13: 95,013,917 (GRCm39)	T112S	probably damaging	Het
Pcdh7	A	G	5: 57,877,405 (GRCm39)	N320S	probably damaging	Het
Pdzd2	G	T	15: 12,592,364 (GRCm39)	F93L	probably damaging	Het
Phf20l1	A	G	15: 66,481,453 (GRCm39)	E283G	probably damaging	Het
Polr1e	T	C	4: 45,029,421 (GRCm39)	F342S	probably damaging	Het
Pp2d1	T	A	17: 53,846,196 (GRCm39)		probably benign	Het
Ptpn13	T	A	5: 103,664,291 (GRCm39)		probably null	Het
Reg3g	A	T	6: 78,444,471 (GRCm39)	H107Q	possibly damaging	Het
Rgl1	T	C	1: 152,415,696 (GRCm39)	K408E	probably damaging	Het
Samd4	T	C	14: 47,314,966 (GRCm39)	C309R	probably damaging	Het
Sestd1	C	A	2: 77,061,066 (GRCm39)	W104L	probably benign	Het
Sfmbt1	T	A	14: 30,533,330 (GRCm39)		probably null	Het
Slc22a21	T	A	11: 53,870,446 (GRCm39)	K80*	probably null	Het
Snx20	T	A	8: 89,356,630 (GRCm39)	Q62L	probably benign	Het
Spef1l	T	C	7: 139,557,026 (GRCm39)	M120V	probably benign	Het
Stk40	C	A	4: 126,032,594 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,885,584 (GRCm39)		probably benign	Het
Tcf23	C	T	5: 31,127,654 (GRCm39)	P152L	probably damaging	Het
Tex29	T	C	8: 11,894,138 (GRCm39)		probably benign	Het
Tjp3	A	G	10: 81,116,389 (GRCm39)	V235A	probably damaging	Het
Tns3	A	T	11: 8,443,262 (GRCm39)	I367N	possibly damaging	Het
Ttn	T	A	2: 76,543,255 (GRCm39)	M33244L	probably benign	Het
Ush2a	A	T	1: 188,089,044 (GRCm39)	N333I	probably damaging	Het
Usp34	T	C	11: 23,382,406 (GRCm39)		probably benign	Het
Vmn1r204	A	C	13: 22,740,848 (GRCm39)	S160R	probably benign	Het
Vmn2r75	C	T	7: 85,797,449 (GRCm39)	W788*	probably null	Het
Vwa5b1	T	C	4: 138,363,022 (GRCm39)		probably benign	Het
Zbtb7a	A	G	10: 80,984,163 (GRCm39)	E535G	probably benign	Het
Zfp1004	T	A	2: 150,034,494 (GRCm39)	C303S	probably damaging	Het
Zranb3	T	C	1: 127,964,295 (GRCm39)	D144G	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
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
R5159:Msln	UTSW	17	25,970,563 (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'- AAGCTAGTCACACTGGCCTTCCTC -3'
(R):5'- AGTACCTTGTCCCTCAGGTTGTCAC -3'

Sequencing Primer
(F):5'- CACCTAGTATTCAGTTAGGCAGC -3'
(R):5'- TGTCACTTGTCCCAAAGAGG -3'

Posted On

2013-06-11