Mutagenetix > Incidental Mutation

Incidental Mutation 'R6385:Msln'

515575

Institutional Source

Beutler Lab

Gene Symbol

Msln

Ensembl Gene

ENSMUSG00000063011

Gene Name

mesothelin

Synonyms

megakaryocyte potentiating factor, MPF

MMRRC Submission

044534-MU

Accession Numbers

Essential gene?

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

Stock #

R6385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25967587-25973352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25970115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 280 (D280V)

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: D280V

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075279
Gene: ENSMUSG00000063011
AA Change: D280V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102319

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

98% (55/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,236 (GRCm39)	M910L	probably benign	Het
Abca9	T	A	11: 110,025,080 (GRCm39)	I988F	probably damaging	Het
Adgra2	A	T	8: 27,608,878 (GRCm39)	S92C	probably damaging	Het
Apon	A	G	10: 128,090,223 (GRCm39)		probably benign	Het
Arap3	G	A	18: 38,130,084 (GRCm39)	R26*	probably null	Het
Btnl6	T	G	17: 34,727,343 (GRCm39)	I396L	probably benign	Het
Catsper3	G	T	13: 55,934,239 (GRCm39)	Q53H	probably damaging	Het
Cep164	T	G	9: 45,691,081 (GRCm39)	E372A	probably damaging	Het
Cln3	A	T	7: 126,174,207 (GRCm39)	C339S	probably null	Het
Cntnap2	G	A	6: 46,833,114 (GRCm39)	D776N	probably benign	Het
Cttnbp2nl	A	G	3: 104,912,952 (GRCm39)	F311L	probably benign	Het
Daam2	C	T	17: 49,770,964 (GRCm39)	A918T	probably damaging	Het
Dst	T	C	1: 34,346,549 (GRCm39)	V7353A	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fanca	A	T	8: 124,032,606 (GRCm39)		probably null	Het
Filip1	G	T	9: 79,727,813 (GRCm39)	Q269K	possibly damaging	Het
Fut9	G	A	4: 25,620,328 (GRCm39)	S162L	probably damaging	Het
Gtf2ird1	A	T	5: 134,433,544 (GRCm39)	H294Q	probably benign	Het
Gucy1a1	A	G	3: 82,016,313 (GRCm39)	I225T	probably benign	Het
H2-DMb1	T	A	17: 34,374,576 (GRCm39)	N75K	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hes1	A	G	16: 29,884,424 (GRCm39)	M6V	possibly damaging	Het
Hydin	A	T	8: 111,038,856 (GRCm39)	H198L	possibly damaging	Het
Iars1	T	C	13: 49,855,371 (GRCm39)	L266P	probably damaging	Het
Ifna11	A	G	4: 88,738,386 (GRCm39)	E64G	probably damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Kcnh3	T	C	15: 99,125,822 (GRCm39)	S160P	probably benign	Het
Lama5	T	C	2: 179,838,326 (GRCm39)	T850A	probably damaging	Het
Lgi3	A	G	14: 70,768,610 (GRCm39)	T36A	possibly damaging	Het
Lrp2	T	C	2: 69,326,128 (GRCm39)	S1810G	probably benign	Het
Lypd10	A	T	7: 24,413,535 (GRCm39)	I184F	probably damaging	Het
Myh4	A	T	11: 67,146,663 (GRCm39)	I1513F	probably damaging	Het
Ncf2	A	T	1: 152,706,173 (GRCm39)	M262L	probably benign	Het
Neb	G	T	2: 52,075,311 (GRCm39)	A218D	probably damaging	Het
Notch4	C	A	17: 34,792,788 (GRCm39)	Q640K	probably null	Het
Or4f7	T	C	2: 111,644,964 (GRCm39)	I36V	probably benign	Het
Or52e19b	A	T	7: 103,033,104 (GRCm39)	V35D	possibly damaging	Het
Or6k6	A	T	1: 173,944,862 (GRCm39)	F240Y	probably damaging	Het
Pear1	G	T	3: 87,661,506 (GRCm39)	H562N	probably benign	Het
Poli	C	A	18: 70,663,072 (GRCm39)		probably benign	Het
Ppp3r2	A	G	4: 49,681,767 (GRCm39)	I61T	possibly damaging	Het
Rfc5	T	C	5: 117,523,463 (GRCm39)	T112A	probably benign	Het
Serhl	A	G	15: 82,985,823 (GRCm39)	T5A	probably benign	Het
Shank3	T	C	15: 89,405,578 (GRCm39)		probably null	Het
Slc22a28	A	G	19: 8,078,844 (GRCm39)	S282P	probably damaging	Het
Slc2a12	C	T	10: 22,569,929 (GRCm39)	T540I	possibly damaging	Het
Slurp2	T	C	15: 74,618,524 (GRCm39)	M1V	probably null	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tln2	C	T	9: 67,185,411 (GRCm39)	A700T	probably benign	Het
Ttn	C	T	2: 76,748,192 (GRCm39)	V4286I	probably benign	Het
Ube2u	A	G	4: 100,389,341 (GRCm39)	K214R	possibly damaging	Het
Vmn1r46	A	G	6: 89,953,427 (GRCm39)	H92R	probably damaging	Het
Wdr90	A	G	17: 26,067,504 (GRCm39)	I1486T	probably damaging	Het
Zc3h11a	A	T	1: 133,565,192 (GRCm39)	S236T	possibly damaging	Het
Zfp318	A	G	17: 46,721,932 (GRCm39)	K1312E	probably damaging	Het
Zfp930	A	G	8: 69,681,283 (GRCm39)	Y326C	probably damaging	Het
Zfp972	G	T	2: 177,563,588 (GRCm39)	D8E	probably damaging	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
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
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'- CACCCTGTGAAGTTATGACTGC -3'
(R):5'- CCATCGAAGTGGTCAGTCTC -3'

Sequencing Primer
(F):5'- AGTTATGACTGCCCAAGCTG -3'
(R):5'- TGGTCAGTCTCCACCCTGG -3'

Posted On

2018-05-04