Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Mier2'

357934

Institutional Source

Beutler Lab

Gene Symbol

Mier2

Ensembl Gene

ENSMUSG00000042570

Gene Name

MIER family member 2

Synonyms

2700087H15Rik

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.432) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79376079-79391033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79385031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 119 (M119K)

Ref Sequence

ENSEMBL: ENSMUSP00000127387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062855] [ENSMUST00000164895] [ENSMUST00000165028] [ENSMUST00000165778] [ENSMUST00000165866] [ENSMUST00000167183] [ENSMUST00000167689] [ENSMUST00000170018]

AlphaFold

Q3U3N0

Predicted Effect

probably damaging
Transcript: ENSMUST00000062855
AA Change: M119K

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

SMART Domains

Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: M119K

Domain	Start	End	E-Value	Type
ELM2	194	246	1.46e-9	SMART
SANT	295	344	6.01e-8	SMART
low complexity region	441	458	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164895
AA Change: M83K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000165028
AA Change: M119K

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

SMART Domains

Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: M119K

Domain	Start	End	E-Value	Type
ELM2	196	248	1.46e-9	SMART
SANT	297	346	6.01e-8	SMART
low complexity region	443	460	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165778
AA Change: M83K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000165866
AA Change: M190K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127332
Gene: ENSMUSG00000042570
AA Change: M190K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	42	64	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167183

Predicted Effect

probably benign
Transcript: ENSMUST00000167689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170950

Predicted Effect

probably benign
Transcript: ENSMUST00000170018

Meta Mutation Damage Score

0.1476

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,733,280 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	T	3: 59,843,735 (GRCm39)	A143V	probably benign	Het
Accs	T	C	2: 93,671,682 (GRCm39)	E236G	probably damaging	Het
Agrn	C	T	4: 156,257,979 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Akap5	C	A	12: 76,374,581 (GRCm39)	C4*	probably null	Het
Amotl2	A	T	9: 102,597,679 (GRCm39)	H146L	probably damaging	Het
Ank1	A	G	8: 23,594,990 (GRCm39)	N666S	probably damaging	Het
Atp10d	A	T	5: 72,403,509 (GRCm39)	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,161,614 (GRCm39)	M582K	probably benign	Het
Brca2	T	A	5: 150,483,452 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,561,493 (GRCm39)	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdk5rap2	A	G	4: 70,156,662 (GRCm39)	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,367,379 (GRCm39)	M37L	probably benign	Het
Cenpk	A	T	13: 104,386,020 (GRCm39)	H305L	probably benign	Het
Ces5a	C	A	8: 94,262,305 (GRCm39)	A11S	probably benign	Het
Cfap65	T	C	1: 74,967,520 (GRCm39)	E186G	probably damaging	Het
Cfh	T	A	1: 140,016,546 (GRCm39)	I593F	probably damaging	Het
Clstn2	C	T	9: 97,327,726 (GRCm39)	V961I	probably benign	Het
Cog5	T	A	12: 31,919,405 (GRCm39)		probably null	Het
Col4a4	T	C	1: 82,518,895 (GRCm39)	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,652,316 (GRCm39)	D61G	probably damaging	Het
Dnah10	A	G	5: 124,824,809 (GRCm39)	N655S	probably benign	Het
Dnai1	C	G	4: 41,610,269 (GRCm39)	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,407,996 (GRCm39)	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,194,016 (GRCm39)	D960V	probably damaging	Het
Fam167b	C	T	4: 129,472,135 (GRCm39)	G12R	probably damaging	Het
Fam20b	A	T	1: 156,515,066 (GRCm39)	Y266*	probably null	Het
Fer1l6	T	A	15: 58,512,060 (GRCm39)	V1509D	probably benign	Het
Fhad1	A	T	4: 141,655,794 (GRCm39)	I105N	probably damaging	Het
Fmo2	T	C	1: 162,716,374 (GRCm39)	D71G	probably damaging	Het
Folr2	T	C	7: 101,493,006 (GRCm39)	T6A	possibly damaging	Het
Fry	A	C	5: 150,321,719 (GRCm39)	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,320,193 (GRCm39)	I21T	probably damaging	Het
Gfra1	T	C	19: 58,441,676 (GRCm39)	Y85C	probably damaging	Het
Gpld1	A	T	13: 25,163,671 (GRCm39)	Y43F	probably benign	Het
Gpld1	T	A	13: 25,163,675 (GRCm39)	Y44*	probably null	Het
Grid2	A	G	6: 63,885,972 (GRCm39)	T123A	probably benign	Het
Grina	T	C	15: 76,133,442 (GRCm39)	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,002,102 (GRCm39)	A659V	probably benign	Het
H2-T10	T	A	17: 36,429,837 (GRCm39)	K319*	probably null	Het
Hey2	A	T	10: 30,710,300 (GRCm39)	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,587,178 (GRCm39)	T13I	probably benign	Het
Il1rap	C	A	16: 26,541,532 (GRCm39)	A591E	probably benign	Het
Ildr1	T	C	16: 36,542,383 (GRCm39)	L261P	probably benign	Het
Jak1	A	G	4: 101,031,354 (GRCm39)	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,159,285 (GRCm39)	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,361,028 (GRCm39)	T592S	probably benign	Het
Lrrc36	A	G	8: 106,178,776 (GRCm39)	T445A	possibly damaging	Het
Ly9	G	A	1: 171,434,806 (GRCm39)	S29F	probably damaging	Het
Mapk7	A	C	11: 61,381,669 (GRCm39)	C32W	probably damaging	Het
Marchf10	C	T	11: 105,255,302 (GRCm39)		probably benign	Het
Mpv17	A	T	5: 31,303,326 (GRCm39)	C59*	probably null	Het
Mrpl27	G	A	11: 94,544,659 (GRCm39)		probably benign	Het
Myo18b	G	A	5: 113,022,340 (GRCm39)	Q351*	probably null	Het
Myo1a	A	G	10: 127,551,557 (GRCm39)	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,360,650 (GRCm39)	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,691,938 (GRCm39)	A513E	probably benign	Het
Neb	T	C	2: 52,110,221 (GRCm39)	D209G	probably damaging	Het
Nkapl	T	A	13: 21,652,457 (GRCm39)	Q52L	unknown	Het
Nptx2	G	A	5: 144,483,250 (GRCm39)	S126N	probably benign	Het
Or2a7	G	A	6: 43,150,977 (GRCm39)	S19N	probably benign	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or7g17	A	T	9: 18,768,476 (GRCm39)	H185L	probably benign	Het
Or8b52	A	G	9: 38,577,128 (GRCm39)	V4A	probably benign	Het
Pclo	A	T	5: 14,764,362 (GRCm39)	R4278S	unknown	Het
Pcnx1	T	G	12: 81,997,068 (GRCm39)	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,363,970 (GRCm39)	N75K	probably benign	Het
Prpf19	T	G	19: 10,875,154 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,759,533 (GRCm39)	S997P	probably damaging	Het
Rangap1	T	C	15: 81,597,118 (GRCm39)	T226A	probably benign	Het
Rimklb	G	A	6: 122,433,365 (GRCm39)	L262F	probably damaging	Het
Rnf169	A	G	7: 99,574,930 (GRCm39)	M555T	probably benign	Het
Rp1l1	A	T	14: 64,267,519 (GRCm39)	D1035V	probably benign	Het
Rps23rg1	A	T	8: 3,633,922 (GRCm39)	S8C	probably damaging	Het
Scd2	T	A	19: 44,289,791 (GRCm39)	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,024,956 (GRCm39)	M84L	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,419,160 (GRCm39)	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,359,794 (GRCm39)	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,297,492 (GRCm39)		probably benign	Het
Slc4a10	T	A	2: 62,127,332 (GRCm39)	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,022,398 (GRCm39)	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,302,008 (GRCm39)	G197S	probably damaging	Het
Smarca2	A	T	19: 26,631,883 (GRCm39)	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,421,548 (GRCm39)	N594K	probably benign	Het
Spata22	A	T	11: 73,236,582 (GRCm39)	D296V	probably damaging	Het
Sphk2	G	A	7: 45,363,058 (GRCm39)	A11V	possibly damaging	Het
Spp1	A	T	5: 104,583,081 (GRCm39)		probably benign	Het
Strn3	T	A	12: 51,656,999 (GRCm39)	I760L	possibly damaging	Het
Syk	A	T	13: 52,796,022 (GRCm39)	Y539F	probably benign	Het
Tdpoz9-ps1	T	C	3: 93,846,093 (GRCm39)		probably null	Het
Thsd7b	T	A	1: 130,138,001 (GRCm39)	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,504,494 (GRCm39)	E42*	probably null	Het
Tom1l1	T	C	11: 90,575,942 (GRCm39)	E30G	probably damaging	Het
Trav10	G	A	14: 53,743,518 (GRCm39)	A40T	probably benign	Het
Trav14-2	G	A	14: 53,878,237 (GRCm39)		probably benign	Het
Tril	T	A	6: 53,795,449 (GRCm39)	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,059,087 (GRCm39)	R179*	probably null	Het
Tspoap1	A	T	11: 87,662,489 (GRCm39)	D562V	possibly damaging	Het
Usp44	A	T	10: 93,682,768 (GRCm39)	H406L	probably damaging	Het
Vangl1	A	G	3: 102,065,608 (GRCm39)	I509T	probably benign	Het
Vax2	T	G	6: 83,688,379 (GRCm39)	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,150,025 (GRCm39)	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,949,566 (GRCm39)	D427V	probably benign	Het
Vwde	A	G	6: 13,205,851 (GRCm39)	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,940,431 (GRCm39)	A769S	probably damaging	Het
Xpo4	A	C	14: 57,855,638 (GRCm39)	S264A	probably benign	Het
Zfp330	A	T	8: 83,496,015 (GRCm39)	C75*	probably null	Het
Zfp526	T	A	7: 24,925,064 (GRCm39)	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,402,930 (GRCm39)	L462R	probably damaging	Het
Zfp719	T	A	7: 43,240,217 (GRCm39)	F602I	probably damaging	Het

Other mutations in Mier2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Mier2	APN	10	79,377,014 (GRCm39)	makesense	probably null
IGL01761:Mier2	APN	10	79,384,186 (GRCm39)	critical splice donor site	probably null
IGL01845:Mier2	APN	10	79,385,418 (GRCm39)	missense	possibly damaging	0.69
IGL02336:Mier2	APN	10	79,384,184 (GRCm39)	unclassified	probably benign
IGL02882:Mier2	APN	10	79,383,555 (GRCm39)	missense	probably damaging	1.00
IGL02902:Mier2	APN	10	79,385,456 (GRCm39)	missense	probably damaging	1.00
R0325:Mier2	UTSW	10	79,378,430 (GRCm39)	critical splice donor site	probably null
R0972:Mier2	UTSW	10	79,380,455 (GRCm39)	unclassified	probably benign
R1326:Mier2	UTSW	10	79,380,543 (GRCm39)	missense	probably damaging	1.00
R1333:Mier2	UTSW	10	79,380,991 (GRCm39)	missense	probably benign	0.03
R1721:Mier2	UTSW	10	79,384,664 (GRCm39)	missense	probably damaging	1.00
R1867:Mier2	UTSW	10	79,384,664 (GRCm39)	missense	probably damaging	1.00
R1868:Mier2	UTSW	10	79,384,664 (GRCm39)	missense	probably damaging	1.00
R2015:Mier2	UTSW	10	79,377,036 (GRCm39)	splice site	probably null
R2273:Mier2	UTSW	10	79,380,368 (GRCm39)	missense	probably damaging	1.00
R2274:Mier2	UTSW	10	79,380,368 (GRCm39)	missense	probably damaging	1.00
R3729:Mier2	UTSW	10	79,380,876 (GRCm39)	unclassified	probably benign
R3874:Mier2	UTSW	10	79,377,631 (GRCm39)	missense	possibly damaging	0.49
R3881:Mier2	UTSW	10	79,384,584 (GRCm39)	splice site	probably null
R4758:Mier2	UTSW	10	79,386,182 (GRCm39)	missense	probably damaging	1.00
R5070:Mier2	UTSW	10	79,385,411 (GRCm39)	missense	probably benign	0.03
R6282:Mier2	UTSW	10	79,380,576 (GRCm39)	missense	probably damaging	1.00
R6785:Mier2	UTSW	10	79,380,547 (GRCm39)	missense	probably damaging	1.00
R6861:Mier2	UTSW	10	79,376,990 (GRCm39)	start gained	probably benign
R6869:Mier2	UTSW	10	79,378,503 (GRCm39)	missense	probably damaging	0.99
R6897:Mier2	UTSW	10	79,380,573 (GRCm39)	missense	probably damaging	0.99
R6902:Mier2	UTSW	10	79,376,673 (GRCm39)	utr 3 prime	probably benign
R6946:Mier2	UTSW	10	79,376,673 (GRCm39)	utr 3 prime	probably benign
R6968:Mier2	UTSW	10	79,376,476 (GRCm39)	utr 3 prime	probably benign
R6971:Mier2	UTSW	10	79,378,263 (GRCm39)	missense	possibly damaging	0.53
R7072:Mier2	UTSW	10	79,376,133 (GRCm39)	missense	unknown
R7350:Mier2	UTSW	10	79,376,132 (GRCm39)	missense	unknown
R7443:Mier2	UTSW	10	79,376,289 (GRCm39)	missense	unknown
R7506:Mier2	UTSW	10	79,386,176 (GRCm39)	missense	probably benign	0.14
R7545:Mier2	UTSW	10	79,377,028 (GRCm39)	missense	possibly damaging	0.79
R7625:Mier2	UTSW	10	79,378,543 (GRCm39)	missense	probably damaging	1.00
R7669:Mier2	UTSW	10	79,385,510 (GRCm39)	missense	probably damaging	1.00
R7895:Mier2	UTSW	10	79,377,719 (GRCm39)	start gained	probably benign
R8494:Mier2	UTSW	10	79,377,546 (GRCm39)	missense	probably damaging	1.00
R8520:Mier2	UTSW	10	79,378,263 (GRCm39)	missense	possibly damaging	0.53
R8834:Mier2	UTSW	10	79,386,293 (GRCm39)	missense	unknown
R8978:Mier2	UTSW	10	79,376,790 (GRCm39)	missense	unknown
R9005:Mier2	UTSW	10	79,384,274 (GRCm39)	missense	probably damaging	0.99
R9007:Mier2	UTSW	10	79,384,274 (GRCm39)	missense	probably damaging	0.99
R9008:Mier2	UTSW	10	79,384,274 (GRCm39)	missense	probably damaging	0.99
R9018:Mier2	UTSW	10	79,384,274 (GRCm39)	missense	probably damaging	0.99
R9051:Mier2	UTSW	10	79,384,274 (GRCm39)	missense	probably damaging	0.99
R9052:Mier2	UTSW	10	79,384,274 (GRCm39)	missense	probably damaging	0.99
R9108:Mier2	UTSW	10	79,377,756 (GRCm39)	missense	probably benign	0.01
R9111:Mier2	UTSW	10	79,381,285 (GRCm39)	unclassified	probably benign
R9121:Mier2	UTSW	10	79,377,594 (GRCm39)	missense
R9281:Mier2	UTSW	10	79,378,294 (GRCm39)	missense	probably benign	0.06
R9514:Mier2	UTSW	10	79,377,496 (GRCm39)	missense	probably benign	0.00
Z1176:Mier2	UTSW	10	79,376,335 (GRCm39)	missense	unknown
Z1177:Mier2	UTSW	10	79,376,295 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCATCTGTGTTGGACTGAGG -3'
(R):5'- AGAGCTTTGGTGTACTGTCC -3'

Sequencing Primer
(F):5'- ACTGAGGTGTGGACTCCG -3'
(R):5'- TCCCATGGGGACTTGCTGAG -3'

Posted On

2015-11-11