Mutagenetix > Incidental Mutation

Incidental Mutation 'R4728:Mier1'

358591

Institutional Source

Beutler Lab

Gene Symbol

Mier1

Ensembl Gene

ENSMUSG00000028522

Gene Name

MEIR1 treanscription regulator

Synonyms

MMRRC Submission

042020-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4728 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103114390-103165754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103140205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 145 (E145G)

Ref Sequence

ENSEMBL: ENSMUSP00000102470 (fasta)

Gene Model

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

AlphaFold

Q5UAK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030247
AA Change: E162G

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

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: E162G

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: E190G

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

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: E190G

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

probably damaging
Transcript: ENSMUST00000106857
AA Change: E145G

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

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: E145G

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

possibly damaging
Transcript: ENSMUST00000106858
AA Change: E162G

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

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: E162G

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

0.1525

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

94% (73/78)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicc1	C	T	10: 70,935,831		probably null	Het
Bpifc	T	A	10: 85,991,199	H162L	possibly damaging	Het
Ccdc163	C	T	4: 116,709,012		probably benign	Het
Cldn12	A	G	5: 5,508,385	F14S	probably damaging	Het
Cyth4	G	A	15: 78,602,713	G14R	probably benign	Het
Ddhd2	C	T	8: 25,752,267	V194I	probably damaging	Het
Ddx23	A	T	15: 98,650,225	V433E	probably damaging	Het
Defb34	A	G	8: 19,126,418	N42D	possibly damaging	Het
Dennd6a	A	G	14: 26,627,420	E313G	probably null	Het
Dhx30	A	G	9: 110,087,650	F570S	probably damaging	Het
Dnah3	T	C	7: 120,059,366	E864G	probably damaging	Het
Eps8	G	A	6: 137,509,162	Q451*	probably null	Het
Fmo9	A	T	1: 166,663,311	Y533N	possibly damaging	Het
Fut8	T	A	12: 77,475,199	D537E	probably damaging	Het
Gm5407	T	C	16: 49,296,920		noncoding transcript	Het
Gm9916	A	G	3: 118,435,041		noncoding transcript	Het
Grm5	T	A	7: 87,975,288	F354L	probably damaging	Het
Hira	C	T	16: 18,922,904	A353V	probably damaging	Het
Ifna4	C	A	4: 88,842,282	T141K	probably benign	Het
Igf1r	T	C	7: 68,189,624	L628P	probably damaging	Het
Kcnh5	A	T	12: 75,007,781	I463N	probably damaging	Het
Kcnh8	C	A	17: 52,725,870	Q62K	probably damaging	Het
Kif3c	A	T	12: 3,365,873		probably benign	Het
Kmo	A	G	1: 175,656,763	D353G	possibly damaging	Het
Lrp1	T	C	10: 127,563,737	T2301A	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,318,408		probably benign	Het
Map3k9	C	T	12: 81,722,373	R967Q	probably damaging	Het
Mcm8	A	G	2: 132,832,854	H414R	probably damaging	Het
Mlc1	A	T	15: 88,978,031		probably null	Het
Napb	T	C	2: 148,709,325	D96G	probably damaging	Het
Nbas	T	A	12: 13,288,739	S193R	probably damaging	Het
Nlrp4a	T	C	7: 26,475,090	V967A	probably benign	Het
Nlrp4e	T	A	7: 23,321,564	I492K	probably benign	Het
Notch4	A	G	17: 34,570,205	T497A	probably benign	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Ogdh	T	A	11: 6,342,549	Y417N	probably damaging	Het
Olfr1152	T	C	2: 87,868,435	V148A	probably benign	Het
Ovol1	A	T	19: 5,553,662	Y70*	probably null	Het
P2ry1	A	G	3: 61,004,220	Y260C	probably damaging	Het
Pcx	G	T	19: 4,603,096	R263L	probably damaging	Het
Pla2g4f	T	A	2: 120,300,921	T774S	probably benign	Het
Prdm15	T	G	16: 97,821,786	K289Q	probably benign	Het
Prl7c1	A	T	13: 27,776,285	H91Q	probably benign	Het
Prmt5	C	T	14: 54,507,907	R601H	probably benign	Het
Prrc2b	T	A	2: 32,230,625	D2192E	probably damaging	Het
Ptdss2	A	G	7: 141,154,459	I299V	probably benign	Het
Rbm28	A	G	6: 29,143,592	V354A	probably damaging	Het
Rps6kb1	G	C	11: 86,544,658		probably null	Het
Sema3f	A	G	9: 107,705,440	S35P	probably benign	Het
Serpina3n	A	T	12: 104,409,163	T165S	probably benign	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Sh2d4b	T	A	14: 40,842,432	R267*	probably null	Het
Slc5a12	A	T	2: 110,644,424	K554*	probably null	Het
Snrnp200	T	C	2: 127,217,414	L409P	probably damaging	Het
Snrnp200	T	A	2: 127,227,878	V981E	possibly damaging	Het
Spon2	T	A	5: 33,217,338	R41S	probably benign	Het
Sptb	A	T	12: 76,583,379	M2279K	probably benign	Het
Srcap	T	G	7: 127,540,924		probably null	Het
Tctn3	A	G	19: 40,605,742	V409A	probably damaging	Het
Tg	A	C	15: 66,682,827	Q697P	probably damaging	Het
Tmem181a	A	G	17: 6,290,599	D141G	probably benign	Het
Tmem82	A	G	4: 141,614,652	S334P	probably benign	Het
Ubr4	A	G	4: 139,423,879	Y1875C	probably damaging	Het
Vmn1r63	C	A	7: 5,803,363	R90L	probably damaging	Het
Zfp330	A	C	8: 82,770,846	Y56D	probably damaging	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
R0684:Mier1	UTSW	4	103139434	missense	probably damaging	0.99
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
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'- ATGATAAGGTCCCACGCCAG -3'
(R):5'- GGTCTGCTAGAGTCTAATCCTCAG -3'

Sequencing Primer
(F):5'- ACGCCAGTTCGAAGAGC -3'
(R):5'- TGCTAGAGTCTAATCCTCAGAAAGC -3'

Posted On

2015-11-11