Mutagenetix > Incidental Mutation

Incidental Mutation 'R7541:Metrnl'

583905

Institutional Source

Beutler Lab

Gene Symbol

Metrnl

Ensembl Gene

ENSMUSG00000039208

Gene Name

meteorin, glial cell differentiation regulator-like

Synonyms

MMRRC Submission

045613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121701544-121716306 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121715970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 284 (C284S)

Ref Sequence

ENSEMBL: ENSMUSP00000038126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036742] [ENSMUST00000106089] [ENSMUST00000125580]

AlphaFold

Q8VE43

Predicted Effect

probably damaging
Transcript: ENSMUST00000036742
AA Change: C284S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038126
Gene: ENSMUSG00000039208
AA Change: C284S

Domain	Start	End	E-Value	Type
signal peptide	1	45	N/A	INTRINSIC
Blast:PAC	124	164	2e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000106089
AA Change: C202S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101695
Gene: ENSMUSG00000039208
AA Change: C202S

Domain	Start	End	E-Value	Type
Blast:PAC	42	82	9e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000125580

SMART Domains

Protein: ENSMUSP00000122949
Gene: ENSMUSG00000039208

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
Blast:PAC	105	145	3e-12	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	G	A	19: 5,503,411 (GRCm38)	P114L	probably benign	Het
4930539E08Rik	G	A	17: 28,905,324 (GRCm38)	R335W	probably damaging	Het
9530053A07Rik	T	A	7: 28,144,256 (GRCm38)	C856*	probably null	Het
Acss2	G	A	2: 155,574,690 (GRCm38)		probably null	Het
Adamts10	G	A	17: 33,531,616 (GRCm38)	R210H	probably benign	Het
Als2	T	C	1: 59,167,616 (GRCm38)		probably null	Het
Aplp2	A	T	9: 31,152,356 (GRCm38)	M652K	possibly damaging	Het
Atrn	A	G	2: 130,961,571 (GRCm38)	I560M	possibly damaging	Het
Bicc1	T	C	10: 70,946,604 (GRCm38)	D602G	possibly damaging	Het
Cdh4	A	G	2: 179,444,810 (GRCm38)		probably null	Het
Clasp1	T	A	1: 118,542,997 (GRCm38)		probably null	Het
Col6a6	A	G	9: 105,767,324 (GRCm38)	I1255T	probably damaging	Het
Comp	G	T	8: 70,381,350 (GRCm38)	V672L	probably damaging	Het
Dbnl	T	G	11: 5,795,486 (GRCm38)	D122E	probably damaging	Het
Dgkz	G	A	2: 91,942,675 (GRCm38)	R346C	probably damaging	Het
Dnhd1	C	T	7: 105,678,309 (GRCm38)	R54C	probably damaging	Het
Elmo3	T	C	8: 105,306,714 (GRCm38)	I121T	probably damaging	Het
Fam184b	A	G	5: 45,542,232 (GRCm38)	L614P	probably damaging	Het
Fbxo18	T	C	2: 11,749,537 (GRCm38)	R797G	probably benign	Het
Gata6	A	G	18: 11,059,108 (GRCm38)	T392A	probably damaging	Het
Gm17783	T	A	16: 45,528,492 (GRCm38)	T106S	possibly damaging	Het
Gm21731	A	T	13: 120,240,979 (GRCm38)	M104L	probably benign	Het
Gm29609	A	G	5: 31,154,232 (GRCm38)	F855S	probably benign	Het
Gm3424	T	C	14: 5,829,330 (GRCm38)	N88D	possibly damaging	Het
Gnas	T	A	2: 174,298,099 (GRCm38)	S80T	unknown	Het
Hsd17b14	C	A	7: 45,566,146 (GRCm38)	P190Q	probably damaging	Het
Iqch	C	T	9: 63,445,521 (GRCm38)	V955I	possibly damaging	Het
Kcnt2	T	C	1: 140,376,384 (GRCm38)	V164A	probably benign	Het
Krt87	A	G	15: 101,438,634 (GRCm38)	L46P	probably damaging	Het
Lef1	A	G	3: 131,191,099 (GRCm38)	M237V	probably benign	Het
Lmbr1l	A	T	15: 98,909,386 (GRCm38)		probably null	Het
Lrrc49	T	C	9: 60,610,403 (GRCm38)	I408V	probably damaging	Het
Luc7l3	T	C	11: 94,295,965 (GRCm38)	S365G	unknown	Het
March2	A	T	17: 33,703,058 (GRCm38)	C109*	probably null	Het
Mmachc	G	A	4: 116,705,885 (GRCm38)	T91I	probably benign	Het
Mrps7	T	G	11: 115,606,870 (GRCm38)	M187R	probably damaging	Het
Ncapd3	A	G	9: 27,067,040 (GRCm38)	E845G	probably damaging	Het
Olfr1393	T	A	11: 49,280,333 (GRCm38)	F62I	probably damaging	Het
Olfr272	A	T	4: 52,911,376 (GRCm38)	D139E	probably benign	Het
Ooep	T	A	9: 78,378,065 (GRCm38)	T90S	possibly damaging	Het
Pcdhb18	A	T	18: 37,491,609 (GRCm38)	D664V	probably damaging	Het
Pigz	T	C	16: 31,945,131 (GRCm38)	S336P	probably benign	Het
Pou2f2	A	T	7: 25,116,128 (GRCm38)	D71E	probably benign	Het
Reep6	G	T	10: 80,335,199 (GRCm38)	R303L	possibly damaging	Het
Rmdn2	A	T	17: 79,627,868 (GRCm38)	S137C		Het
Rnf220	A	T	4: 117,489,930 (GRCm38)	L95H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,911 (GRCm38)		probably benign	Het
Stxbp1	A	T	2: 32,818,505 (GRCm38)	S83T	probably damaging	Het
Trappc11	T	C	8: 47,505,582 (GRCm38)		probably null	Het
Ttn	G	T	2: 76,791,301 (GRCm38)	D15598E	probably damaging	Het
Vav2	T	A	2: 27,275,002 (GRCm38)	R645W	probably damaging	Het
Vmn1r169	T	A	7: 23,577,987 (GRCm38)	V268D	probably benign	Het
Zp2	A	T	7: 120,136,056 (GRCm38)	C365S	probably damaging	Het

Other mutations in Metrnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0071:Metrnl	UTSW	11	121,716,000 (GRCm38)	missense	probably benign	0.00
R4714:Metrnl	UTSW	11	121,716,013 (GRCm38)	missense	probably damaging	1.00
R4783:Metrnl	UTSW	11	121,707,924 (GRCm38)	missense	probably benign	0.44
R4785:Metrnl	UTSW	11	121,707,924 (GRCm38)	missense	probably benign	0.44
R5778:Metrnl	UTSW	11	121,714,738 (GRCm38)	missense	possibly damaging	0.93
R5816:Metrnl	UTSW	11	121,708,112 (GRCm38)	missense	probably benign	0.31
R6542:Metrnl	UTSW	11	121,702,878 (GRCm38)	splice site	probably null
R7179:Metrnl	UTSW	11	121,715,908 (GRCm38)	missense	probably damaging	0.99
R8725:Metrnl	UTSW	11	121,716,016 (GRCm38)	missense	possibly damaging	0.62
R8727:Metrnl	UTSW	11	121,716,016 (GRCm38)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TCATCTACCTGCGGGTGAAC -3'
(R):5'- GCATGTACCTTCCCAGTTCTAG -3'

Sequencing Primer
(F):5'- TGAACAGGCTTCACAGGC -3'
(R):5'- TCCCAGTTCTAGCACCAGG -3'

Posted On

2019-10-17