Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01586:Mier1'

91811

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mier1

Ensembl Gene

ENSMUSG00000028522

Gene Name

MEIR1 treanscription regulator

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01586

Quality Score

Status

Chromosome

Chromosomal Location

103114390-103165754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103155572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 342 (T342I)

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: T359I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: T359I

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: T387I

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: T387I

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
AA Change: T161I

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522
AA Change: T161I

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: T342I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: T342I

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: T359I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: T359I

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: ENSMUST00000128536

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,515	Y144N	unknown	Het
Abca9	A	C	11: 110,154,417	C363W	probably damaging	Het
Acmsd	G	A	1: 127,759,710	R243H	probably damaging	Het
Adam33	T	C	2: 131,054,050	T490A	probably damaging	Het
Ank1	A	G	8: 23,120,912	D1411G	probably benign	Het
Arhgap39	T	C	15: 76,730,438	E842G	probably benign	Het
Asgr2	T	C	11: 70,105,367		probably benign	Het
Bbs9	T	C	9: 22,645,997	V14A	possibly damaging	Het
Cer1	A	G	4: 82,884,843	S81P	probably damaging	Het
Cln6	T	A	9: 62,844,618	H41Q	probably damaging	Het
Dock1	A	G	7: 134,753,377	D334G	probably damaging	Het
Dpy19l2	A	G	9: 24,666,975	I261T	probably benign	Het
Fhod3	T	G	18: 25,090,747	I1050S	probably damaging	Het
Gbgt1	T	C	2: 28,497,830	V22A	probably benign	Het
Izumo3	A	G	4: 92,146,295		probably null	Het
Kif11	T	C	19: 37,384,233		probably benign	Het
Krt2	C	A	15: 101,811,390	G615V	unknown	Het
Midn	A	G	10: 80,156,643		probably benign	Het
Mycbp2	A	T	14: 103,140,869		probably null	Het
Nrp1	A	T	8: 128,432,032	S267C	possibly damaging	Het
Olfr145	A	G	9: 37,897,976	T191A	possibly damaging	Het
Pcdh20	A	T	14: 88,470,908	M28K	probably benign	Het
Prmt5	G	A	14: 54,509,951		probably benign	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Rps6ka5	T	C	12: 100,570,914	E519G	probably damaging	Het
Samm50	T	A	15: 84,195,838	I39N	probably benign	Het
Shc2	A	T	10: 79,622,304	M515K	probably damaging	Het
Sorbs2	T	A	8: 45,795,594	F608L	probably damaging	Het
Sos2	T	C	12: 69,607,398	K727E	probably damaging	Het
Sox13	A	T	1: 133,389,444	H150Q	possibly damaging	Het
Tmem132e	T	C	11: 82,434,669	V165A	probably damaging	Het
Trmt11	T	C	10: 30,597,751	T43A	probably benign	Het
Tyrp1	G	T	4: 80,844,898	V341L	probably benign	Het
Ugt2b35	C	A	5: 87,011,391	H481Q	probably benign	Het
Zzz3	T	A	3: 152,455,839	I290N	possibly damaging	Het

Other mutations in Mier1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09