Mutagenetix > Incidental Mutation

Incidental Mutation 'R5075:Mier1'

386916

Institutional Source

Beutler Lab

Gene Symbol

Mier1

Ensembl Gene

ENSMUSG00000028522

Gene Name

MEIR1 treanscription regulator

Synonyms

MMRRC Submission

042664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5075 (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 103139473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 99 (D99G)

Ref Sequence

ENSEMBL: ENSMUSP00000102470 (fasta)

Gene Model

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

AlphaFold

Q5UAK0

Predicted Effect

probably benign
Transcript: ENSMUST00000030247
AA Change: D116G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: D116G

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 benign
Transcript: ENSMUST00000097945
AA Change: D144G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: D144G

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 benign
Transcript: ENSMUST00000106857
AA Change: D99G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: D99G

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 benign
Transcript: ENSMUST00000106858
AA Change: D116G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: D116G

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

0.0769

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (57/57)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	C	1: 26,683,052	K1016E	probably damaging	Het
Agl	A	G	3: 116,793,807	F33S	probably damaging	Het
Atf7ip	A	G	6: 136,560,234	D163G	probably benign	Het
Cep85	C	A	4: 134,132,367	D662Y	probably damaging	Het
Cntn6	T	A	6: 104,833,030	S558T	probably damaging	Het
Dnah8	T	C	17: 30,739,757		probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dnah8	T	A	17: 30,800,531	N3859K	probably damaging	Het
Dnajc21	G	T	15: 10,461,877	T146K	probably benign	Het
Ep400	T	C	5: 110,685,485	E1957G	unknown	Het
Esm1	A	G	13: 113,213,358	Y104C	probably damaging	Het
Fkbp15	T	C	4: 62,321,029	K613R	probably damaging	Het
Gm10722	A	C	9: 3,001,041	Y39S	probably benign	Het
Gm5592	A	G	7: 41,158,963		probably benign	Het
Hdac4	A	G	1: 91,996,120	S223P	probably benign	Het
Hypk	A	G	2: 121,455,630		probably benign	Het
Kpna1	T	A	16: 36,009,352	F70I	probably damaging	Het
Lrp2	A	G	2: 69,465,758	Y3336H	probably benign	Het
Mettl7b	A	G	10: 128,960,680	F87L	probably damaging	Het
Muc4	T	C	16: 32,754,794		probably benign	Het
Nup160	A	G	2: 90,700,174	E463G	probably damaging	Het
Olfr1480	T	A	19: 13,530,273	M244K	probably benign	Het
Peg3	A	T	7: 6,708,420	C1268S	probably damaging	Het
Recql4	G	A	15: 76,709,544	P122L	probably damaging	Het
Rex2	A	T	4: 147,057,694	Q213L	possibly damaging	Het
Rnf25	A	G	1: 74,595,644	V73A	probably benign	Het
Sacm1l	A	G	9: 123,582,262	D372G	probably benign	Het
Selplg	T	C	5: 113,819,984	D87G	probably benign	Het
Sgsh	G	A	11: 119,346,768	T340M	probably benign	Het
Slc4a3	A	T	1: 75,557,368	I1120F	probably damaging	Het
Snrnp40	T	C	4: 130,388,582	Y311H	probably benign	Het
Stard7	A	T	2: 127,269,959		probably benign	Het
Stat1	A	T	1: 52,122,712	K40M	possibly damaging	Het
Sun1	T	C	5: 139,226,891		probably null	Het
Tet2	T	A	3: 133,486,906	Q589L	probably benign	Het
Tmc7	A	T	7: 118,552,696		probably null	Het
Unc79	A	T	12: 103,074,954	I749F	possibly damaging	Het
Ust	A	G	10: 8,518,224	F59S	probably damaging	Het
Wdr81	A	T	11: 75,452,481	D653E	probably benign	Het
Zfat	A	G	15: 68,180,230	S572P	probably benign	Het
Zmynd15	G	C	11: 70,462,120	E143D	probably damaging	Het
Zzef1	A	G	11: 72,858,344	E886G	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
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
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'- ATAGCATGGAAGCCCTAAAATCACTG -3'
(R):5'- TCTCATGGAAGTGAATCCTAAGG -3'

Sequencing Primer
(F):5'- TGGAAGCCCTAAAATCACTGATGTC -3'
(R):5'- TGGAAGTGAATCCTAAGGAATTTTC -3'

Posted On

2016-06-06