Mutagenetix > Incidental Mutation

Incidental Mutation 'R0691:Mier1'

63957

Institutional Source

Beutler Lab

Gene Symbol

Mier1

Ensembl Gene

ENSMUSG00000028522

Gene Name

MEIR1 treanscription regulator

Synonyms

MMRRC Submission

038876-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0691 (G1)

Quality Score

113

Status

Validated

Chromosome

Chromosomal Location

103114390-103165754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103139502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 109 (S109G)

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: S126G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: S126G

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: S154G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: S154G

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: S109G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: S109G

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: S126G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: S126G

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

0.0690

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

97% (58/60)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,639,253	D865G	possibly damaging	Het
Acy1	A	T	9: 106,435,871		probably null	Het
Adcy4	A	T	14: 55,772,647		probably benign	Het
Anpep	T	G	7: 79,839,299	D347A	probably damaging	Het
Arhgap28	C	T	17: 67,896,164		probably null	Het
Ccdc32	A	G	2: 119,027,129		probably benign	Het
Cdc42bpa	A	G	1: 180,144,835	T1401A	possibly damaging	Het
Celsr2	A	G	3: 108,412,623	Y958H	probably damaging	Het
Cenpe	A	G	3: 135,217,305	E137G	probably damaging	Het
Chd8	T	C	14: 52,213,433	D1399G	probably damaging	Het
Cntn3	T	C	6: 102,168,947	T978A	possibly damaging	Het
Col10a1	A	G	10: 34,395,696	T555A	possibly damaging	Het
Crybg3	A	C	16: 59,565,211		probably null	Het
Cts7	A	G	13: 61,355,734	F139L	probably damaging	Het
Dera	T	C	6: 137,796,747		probably benign	Het
Dgka	A	G	10: 128,723,260		probably benign	Het
Dhrs7	T	A	12: 72,652,351	I286F	probably damaging	Het
Dtwd2	A	G	18: 49,728,357		probably benign	Het
Fam160b2	T	C	14: 70,588,287	D351G	probably damaging	Het
Fermt1	A	G	2: 132,906,733	S657P	probably damaging	Het
Flnb	T	C	14: 7,890,810	V564A	probably benign	Het
Garnl3	A	G	2: 33,085,907	F16L	probably damaging	Het
Gck	T	C	11: 5,906,691	R191G	probably damaging	Het
Gucy1b1	A	T	3: 82,045,634		probably benign	Het
Ifna2	A	C	4: 88,683,658	L41R	probably damaging	Het
Krt33a	T	G	11: 100,012,715	E197A	probably damaging	Het
Lce1e	G	A	3: 92,707,756	R95C	unknown	Het
Lct	G	T	1: 128,308,234	S345R	probably benign	Het
Lrp2	A	T	2: 69,451,380	N3882K	probably benign	Het
Mcc	G	T	18: 44,445,860	T652K	possibly damaging	Het
Nfat5	A	G	8: 107,355,605	N469S	probably damaging	Het
Olfr382	C	A	11: 73,516,844	M118I	possibly damaging	Het
Olfr807	G	A	10: 129,755,402	T16I	probably damaging	Het
Piwil1	G	T	5: 128,743,307	R256M	probably null	Het
Rgma	T	C	7: 73,409,412	V88A	probably damaging	Het
Sdk2	T	C	11: 113,794,920		probably null	Het
Sec22b	A	G	3: 97,912,674	E94G	probably damaging	Het
Snrnp70	T	C	7: 45,387,245	R131G	possibly damaging	Het
Spata31d1a	A	G	13: 59,700,385	S1310P	possibly damaging	Het
Spint1	A	G	2: 119,246,467	E344G	probably damaging	Het
Srrm1	G	A	4: 135,324,991	Q141*	probably null	Het
Tecta	A	T	9: 42,384,341	L286Q	probably damaging	Het
Tep1	T	A	14: 50,866,844	K198*	probably null	Het
Tk2	A	G	8: 104,231,192	V174A	probably benign	Het
Txndc5	T	C	13: 38,507,896	K165E	probably damaging	Het
Ubr4	G	A	4: 139,423,906	R1884Q	probably damaging	Het
Vmn2r61	T	C	7: 42,300,420	Y755H	probably damaging	Het
Xrn1	T	A	9: 95,973,539	H296Q	probably damaging	Het
Zar1l	A	T	5: 150,512,942	V223D	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
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'- TAGGAAGGCGACATGCCAATCCAC -3'
(R):5'- ACTGAATACAGAACTGCCAGTCAGC -3'

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

Posted On

2013-07-30