Mutagenetix > Incidental Mutation

Incidental Mutation 'R7545:Mier2'

584173

Institutional Source

Beutler Lab

Gene Symbol

Mier2

Ensembl Gene

ENSMUSG00000042570

Gene Name

MIER family member 2

Synonyms

2700087H15Rik

MMRRC Submission

045650-MU

Accession Numbers

Essential gene?

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

Stock #

R7545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79376079-79391033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79377028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 537 (N537S)

Ref Sequence

ENSEMBL: ENSMUSP00000127387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062855] [ENSMUST00000165028] [ENSMUST00000172158]

AlphaFold

Q3U3N0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062855
AA Change: N535S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: N535S

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

possibly damaging
Transcript: ENSMUST00000165028
AA Change: N537S

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: N537S

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 benign
Transcript: ENSMUST00000172158

SMART Domains

Protein: ENSMUSP00000129732
Gene: ENSMUSG00000042570

Domain	Start	End	E-Value	Type
low complexity region	27	40	N/A	INTRINSIC
low complexity region	157	168	N/A	INTRINSIC
low complexity region	230	244	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,696,040 (GRCm39)	Y159H	probably damaging	Het
A1cf	A	T	19: 31,912,190 (GRCm39)	N435I	possibly damaging	Het
Aasdh	A	T	5: 77,027,861 (GRCm39)	F849I	probably damaging	Het
Aatf	A	T	11: 84,361,502 (GRCm39)	M367K	probably benign	Het
Acnat1	A	T	4: 49,449,142 (GRCm39)	L208*	probably null	Het
Adam26b	C	T	8: 43,974,750 (GRCm39)	G84D	probably damaging	Het
Adamtsl1	A	T	4: 85,683,092 (GRCm39)	E54D	probably damaging	Het
Ang6	T	G	14: 44,239,636 (GRCm39)	I31L	probably benign	Het
Asic4	A	G	1: 75,449,060 (GRCm39)	N403S	probably damaging	Het
Bicd1	G	A	6: 149,414,990 (GRCm39)	V568M	probably benign	Het
Ccdc192	A	G	18: 57,863,895 (GRCm39)	E233G	probably damaging	Het
Cfap45	A	T	1: 172,366,163 (GRCm39)	M339L	probably benign	Het
Cnga4	A	G	7: 105,056,286 (GRCm39)	D399G	probably damaging	Het
Csnk1g3	C	T	18: 54,028,897 (GRCm39)	R17W	probably damaging	Het
Dnah11	A	G	12: 117,894,939 (GRCm39)	F3636S	probably damaging	Het
Dscaml1	A	T	9: 45,596,681 (GRCm39)	T842S	probably benign	Het
Ets2	C	A	16: 95,516,127 (GRCm39)	Q236K	probably benign	Het
Ext2	C	A	2: 93,644,108 (GRCm39)	V58L	probably benign	Het
Fam135b	T	C	15: 71,322,359 (GRCm39)	K1269E	possibly damaging	Het
Fech	A	G	18: 64,597,185 (GRCm39)	L258P	probably damaging	Het
Gls	A	G	1: 52,230,311 (GRCm39)	S467P	probably damaging	Het
Gm19410	T	A	8: 36,269,779 (GRCm39)	D1141E	probably damaging	Het
Gm45861	T	G	8: 28,071,032 (GRCm39)	M1246R	unknown	Het
Gm6902	T	A	7: 22,973,087 (GRCm39)	I147L	probably benign	Het
Itga7	G	T	10: 128,769,775 (GRCm39)		probably benign	Het
Itpripl1	A	T	2: 126,983,581 (GRCm39)	C180*	probably null	Het
Klhl33	C	A	14: 51,130,631 (GRCm39)	V28F	probably damaging	Het
Kmo	A	T	1: 175,481,194 (GRCm39)	D304V	probably damaging	Het
Mroh9	A	G	1: 162,902,277 (GRCm39)	I112T	possibly damaging	Het
Mterf1a	T	A	5: 3,940,995 (GRCm39)	E291V	probably damaging	Het
Muc5ac	T	A	7: 141,362,405 (GRCm39)	N1905K	unknown	Het
Myt1l	G	A	12: 29,877,087 (GRCm39)	R246Q	unknown	Het
Nav2	A	G	7: 49,232,605 (GRCm39)	E1854G	probably damaging	Het
Nelfcd	A	G	2: 174,265,771 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,300,350 (GRCm39)	D287E	probably benign	Het
Nfyc	T	C	4: 120,630,966 (GRCm39)		probably null	Het
Obscn	A	T	11: 58,929,725 (GRCm39)	D5163E	probably damaging	Het
Or10d4c	C	T	9: 39,558,403 (GRCm39)	P127L	probably damaging	Het
Or8g28	T	A	9: 39,169,984 (GRCm39)		probably null	Het
Plppr1	A	T	4: 49,320,002 (GRCm39)	L209F	possibly damaging	Het
Pmm1	T	C	15: 81,835,803 (GRCm39)	D226G	probably damaging	Het
Polr1b	T	A	2: 128,959,766 (GRCm39)		probably null	Het
Ppp2r5a	A	G	1: 191,104,806 (GRCm39)	V80A	probably benign	Het
Pramel17	T	A	4: 101,695,159 (GRCm39)	I51L	probably benign	Het
Psrc1	A	G	3: 108,293,759 (GRCm39)		probably null	Het
Ralbp1	T	C	17: 66,174,593 (GRCm39)	T60A	probably benign	Het
Rasal2	A	T	1: 157,020,339 (GRCm39)	S217T	possibly damaging	Het
Rnase12	A	G	14: 51,294,395 (GRCm39)	F95L	probably damaging	Het
Rnf152	A	T	1: 105,211,957 (GRCm39)	I200K	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,134 (GRCm39)		probably benign	Het
Ryk	C	T	9: 102,765,672 (GRCm39)	T327I	probably damaging	Het
Sell	A	T	1: 163,892,903 (GRCm39)	T40S	probably benign	Het
Slc15a2	G	A	16: 36,595,964 (GRCm39)	H153Y	probably damaging	Het
Slit3	A	G	11: 35,591,139 (GRCm39)	D1317G	possibly damaging	Het
Slx4	G	A	16: 3,817,164 (GRCm39)	T19M	probably benign	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Specc1l	T	C	10: 75,080,921 (GRCm39)	S106P	probably benign	Het
Speer1a	C	A	5: 11,394,884 (GRCm39)	Q124K	possibly damaging	Het
Stc2	T	C	11: 31,317,799 (GRCm39)	N74S	probably damaging	Het
Strn3	A	T	12: 51,674,543 (GRCm39)	S498T	probably damaging	Het
Sva	C	T	6: 42,019,148 (GRCm39)	T106I	probably benign	Het
Tle3	T	A	9: 61,301,984 (GRCm39)	L131Q	possibly damaging	Het
Tmem135	T	A	7: 88,954,727 (GRCm39)	R97W	probably damaging	Het
Tmx4	A	G	2: 134,451,425 (GRCm39)	L176S	possibly damaging	Het
Tomm20l	C	A	12: 71,164,171 (GRCm39)		probably null	Het
Topors	A	T	4: 40,262,173 (GRCm39)	F370L	possibly damaging	Het
Ulk4	T	C	9: 120,970,904 (GRCm39)	T1023A	probably benign	Het
Unc13a	C	T	8: 72,094,153 (GRCm39)		probably null	Het
Urb2	T	C	8: 124,756,491 (GRCm39)	S733P	probably benign	Het
Vwf	A	G	6: 125,591,060 (GRCm39)	D750G		Het
Xylt1	G	A	7: 117,192,812 (GRCm39)	D373N	probably benign	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
R4755:Mier2	UTSW	10	79,385,031 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTGGCCACTTCACTGAATC -3'
(R):5'- GCGGCAGCCTTATTTATCCC -3'

Sequencing Primer
(F):5'- TGAATCCCACCATGTTCTGAAG -3'
(R):5'- CAGTTTTGTCCTCGGCAATAAG -3'

Posted On

2019-10-17