Mutagenetix > Incidental Mutation

Incidental Mutation 'R0684:Mier1'

218624

Institutional Source

Beutler Lab

Gene Symbol

Mier1

Ensembl Gene

ENSMUSG00000028522

Gene Name

MEIR1 treanscription regulator

Synonyms

MMRRC Submission

038869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0684 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

103114390-103165754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103139434 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 103 (E103G)

Ref Sequence

ENSEMBL: ENSMUSP00000102471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030247] [ENSMUST00000097945] [ENSMUST00000106855] [ENSMUST00000106857] [ENSMUST00000106858]

AlphaFold

Q5UAK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000030247
AA Change: E103G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: E103G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	57	65	N/A	INTRINSIC
low complexity region	100	121	N/A	INTRINSIC
low complexity region	176	193	N/A	INTRINSIC
ELM2	198	251	1.14e-11	SMART
SANT	300	349	7.01e-9	SMART
low complexity region	382	409	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097945
AA Change: E131G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: E131G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	85	93	N/A	INTRINSIC
low complexity region	128	149	N/A	INTRINSIC
low complexity region	204	221	N/A	INTRINSIC
ELM2	226	279	1.14e-11	SMART
SANT	328	377	7.01e-9	SMART
low complexity region	410	437	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106855

SMART Domains

Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522

Domain	Start	End	E-Value	Type
ELM2	1	53	2.51e-8	SMART
SANT	102	151	7.01e-9	SMART
low complexity region	184	211	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106857
AA Change: E86G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: E86G

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	40	48	N/A	INTRINSIC
low complexity region	83	104	N/A	INTRINSIC
low complexity region	159	176	N/A	INTRINSIC
ELM2	181	234	1.14e-11	SMART
SANT	283	332	7.01e-9	SMART
low complexity region	365	392	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106858
AA Change: E103G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: E103G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	57	65	N/A	INTRINSIC
low complexity region	100	121	N/A	INTRINSIC
low complexity region	176	193	N/A	INTRINSIC
ELM2	198	251	1.14e-11	SMART
SANT	300	349	7.01e-9	SMART
low complexity region	382	409	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151588

Meta Mutation Damage Score

0.2151

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.1%
20x: 88.8%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095E13Rik	C	T	9: 36,637,880	G28E	probably benign	Het
Adam4	A	T	12: 81,419,654	L731H	probably damaging	Het
Adora2b	C	T	11: 62,249,169	A23V	probably benign	Het
Ankrd17	T	C	5: 90,263,998	I1336V	probably damaging	Het
Asxl1	G	A	2: 153,397,522	R410H	probably damaging	Het
Atp8a2	T	C	14: 60,023,144	E419G	probably benign	Het
Atxn1l	A	T	8: 109,732,384	N415K	probably damaging	Het
Bcl2l12	T	A	7: 44,996,601	T65S	probably benign	Het
Bdh2	A	G	3: 135,291,013	I90V	probably benign	Het
Bsph1	T	A	7: 13,473,063	N121K	probably damaging	Het
Cd96	T	C	16: 46,117,790	Y104C	possibly damaging	Het
Chdh	T	C	14: 30,031,613	W160R	probably damaging	Het
Clock	A	G	5: 76,245,518	F193L	probably damaging	Het
Copz1	A	G	15: 103,296,531		probably null	Het
Cyp2c38	T	C	19: 39,391,056	T450A	probably damaging	Het
Cyp2d34	A	T	15: 82,617,550	I253K	probably benign	Het
Dhrs13	G	T	11: 78,036,963	A212S	probably damaging	Het
Ecsit	T	C	9: 22,076,500	N81S	probably benign	Het
Efl1	A	G	7: 82,651,886	T33A	probably damaging	Het
Emid1	T	C	11: 5,143,866	R92G	probably damaging	Het
Ermp1	A	G	19: 29,632,541		probably benign	Het
Fn1	A	T	1: 71,595,809		probably null	Het
Hps5	A	G	7: 46,783,469		probably null	Het
Hsd17b3	T	C	13: 64,089,068	M21V	probably benign	Het
Kat6b	T	C	14: 21,668,781	V1176A	probably benign	Het
Midn	A	G	10: 80,156,502	K463E	probably damaging	Het
Muc15	A	G	2: 110,733,815	N232S	possibly damaging	Het
Ncoa2	T	A	1: 13,224,651	E15V	probably damaging	Het
Olfr136	A	G	17: 38,335,844	K229R	probably benign	Het
Olfr667	T	A	7: 104,916,634	T221S	probably benign	Het
Olfr713	A	T	7: 107,036,682	N176Y	probably damaging	Het
Pigf	A	T	17: 87,020,495	F115I	probably benign	Het
Prpsap1	A	T	11: 116,471,491	V355E	probably damaging	Het
Ptprk	G	T	10: 28,483,298		probably benign	Het
Rae1	G	A	2: 173,005,164	R67H	probably damaging	Het
Sema3a	G	A	5: 13,556,527		probably null	Het
Slc22a22	T	C	15: 57,263,362	T104A	probably benign	Het
Slc38a2	A	T	15: 96,695,287	L137*	probably null	Het
Smgc	A	G	15: 91,841,467		probably benign	Het
Syce3	A	G	15: 89,390,445		probably benign	Het
Syt9	T	A	7: 107,425,136	W79R	probably damaging	Het
Tgoln1	A	C	6: 72,615,991	S169A	probably benign	Het
Thnsl1	A	G	2: 21,211,666	D77G	probably benign	Het
Tsr1	T	A	11: 74,907,941	V712E	probably damaging	Het
Wdr12	C	T	1: 60,089,366		probably benign	Het
Xdh	T	A	17: 73,943,891	N22I	probably damaging	Het
Zfp3	T	A	11: 70,771,569	L118Q	probably benign	Het
Zfp592	A	G	7: 81,037,875	N883D	probably benign	Het
Zfp609	T	A	9: 65,731,201	M250L	probably benign	Het
Zfp94	A	T	7: 24,303,070	S316T	probably damaging	Het
Zfp955b	A	G	17: 33,302,973	N472S	probably benign	Het

Other mutations in Mier1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01586:Mier1	APN	4	103155572	missense	probably damaging	0.99
IGL01599:Mier1	APN	4	103155541	missense	possibly damaging	0.58
IGL01996:Mier1	APN	4	103127276	missense	possibly damaging	0.93
IGL02228:Mier1	APN	4	103131062	missense	possibly damaging	0.85
R0194:Mier1	UTSW	4	103139519	splice site	probably null
R0505:Mier1	UTSW	4	103155623	splice site	probably benign
R0691:Mier1	UTSW	4	103139502	missense	probably benign	0.07
R2997:Mier1	UTSW	4	103131036	missense	probably damaging	1.00
R4273:Mier1	UTSW	4	103162431	missense	possibly damaging	0.93
R4728:Mier1	UTSW	4	103140205	missense	probably damaging	1.00
R4769:Mier1	UTSW	4	103140220	missense	probably benign	0.01
R4798:Mier1	UTSW	4	103130998	missense	probably damaging	1.00
R5075:Mier1	UTSW	4	103139473	missense	probably benign	0.02
R5260:Mier1	UTSW	4	103162710	missense	probably benign	0.04
R5663:Mier1	UTSW	4	103150542	missense	probably damaging	0.96
R5924:Mier1	UTSW	4	103159702	nonsense	probably null
R7253:Mier1	UTSW	4	103139347	splice site	probably null
R7304:Mier1	UTSW	4	103139402	nonsense	probably null
R7641:Mier1	UTSW	4	103139440	missense	possibly damaging	0.89
R7998:Mier1	UTSW	4	103162615	missense	probably benign	0.09
R8000:Mier1	UTSW	4	103131043	missense	probably damaging	1.00
R8557:Mier1	UTSW	4	103139346	splice site	probably null
R9353:Mier1	UTSW	4	103155603	missense	probably damaging	0.97
R9537:Mier1	UTSW	4	103162561	missense	probably benign	0.00
R9759:Mier1	UTSW	4	103162528	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGTGCCCTAAAGAAAACAAGAAGAGTCC -3'
(R):5'- CTGAATACAGAACTGCCAGTCAGCC -3'

Sequencing Primer
(F):5'- ACTGATGTCAGAGCTTGACC -3'
(R):5'- TCTCATGGAAGTGAATCCTAAGG -3'

Posted On

2014-08-18