Mutagenetix > Incidental Mutation

Incidental Mutation 'R8557:Mier1'

673232

Institutional Source

Beutler Lab

Gene Symbol

Mier1

Ensembl Gene

ENSMUSG00000028522

Gene Name

MEIR1 treanscription regulator

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8557 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

103114390-103165754 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 103139346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102471 (fasta)

Gene Model

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

AlphaFold

Q5UAK0

Predicted Effect

probably null
Transcript: ENSMUST00000030247

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522

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 null
Transcript: ENSMUST00000097945

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522

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 null
Transcript: ENSMUST00000106857

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522

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 null
Transcript: ENSMUST00000106858

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 63,898,611	V230A	probably benign	Het
Ablim2	A	T	5: 35,828,139	H260L	probably damaging	Het
Acp4	C	T	7: 44,255,848		probably null	Het
Acvr2b	G	T	9: 119,432,588	V416L	probably damaging	Het
Adipoq	A	T	16: 23,146,680		probably benign	Het
Amhr2	A	G	15: 102,454,412	Q538R	probably benign	Het
Apoh	C	T	11: 108,409,236	T237I	probably damaging	Het
Aspm	C	T	1: 139,456,756	T97I	probably benign	Het
Atg16l2	A	T	7: 101,290,656	H499Q	probably benign	Het
Bicdl2	G	A	17: 23,667,562	R375H	probably benign	Het
C3	T	C	17: 57,224,383	T304A	probably benign	Het
Cast	A	T	13: 74,704,182	D647E	probably damaging	Het
Chrm2	T	C	6: 36,524,075	V289A	probably benign	Het
Clock	T	C	5: 76,229,370	D694G	probably damaging	Het
Cyp4a31	C	T	4: 115,570,241	R215C	possibly damaging	Het
Dctn2	T	C	10: 127,278,193	L334P	probably damaging	Het
Dnah11	A	G	12: 117,878,512	I4444T	probably benign	Het
Egf	C	A	3: 129,754,951	R5L	unknown	Het
Ercc1	A	G	7: 19,348,555	N11S	probably benign	Het
Eri3	T	C	4: 117,615,323	S113P	possibly damaging	Het
Fam159a	T	A	4: 108,367,888	N159I	probably benign	Het
Fasn	A	G	11: 120,815,784	V958A	probably benign	Het
Fgf10	A	G	13: 118,781,596	K140R	probably benign	Het
Gfra2	G	A	14: 70,977,297	M163I	probably benign	Het
Gm14403	T	C	2: 177,509,561	I191T	probably damaging	Het
Hdlbp	T	A	1: 93,413,497	E977D	probably damaging	Het
Hectd4	A	G	5: 121,310,651	N354S	possibly damaging	Het
Hpgds	A	T	6: 65,120,015	I170N	probably benign	Het
Limk2	A	G	11: 3,346,379	V356A	possibly damaging	Het
Map4	A	G	9: 110,064,302		probably null	Het
Mettl13	C	T	1: 162,544,352	G316D	possibly damaging	Het
Mia2	T	A	12: 59,101,488	L45I	probably damaging	Het
Mob3a	G	T	10: 80,691,174	R106S	probably benign	Het
Mug2	T	A	6: 122,063,701	F737I	probably damaging	Het
Myo7a	C	T	7: 98,053,874	A2053T	probably benign	Het
Myrip	A	G	9: 120,417,186	S127G	probably benign	Het
Naaladl2	T	A	3: 24,208,364	K395I	probably benign	Het
Nedd4l	A	T	18: 65,203,915	M678L	probably benign	Het
Nefh	A	T	11: 4,941,233	I462N	probably damaging	Het
Nfe2	A	G	15: 103,248,598	M322T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr30	T	A	11: 58,455,736	D71V	probably damaging	Het
Olfr657	T	A	7: 104,635,896	V74E	possibly damaging	Het
Pkdcc	A	G	17: 83,221,066	N288S	probably benign	Het
Sacs	G	A	14: 61,207,276	C2257Y	probably damaging	Het
Sec23a	G	T	12: 59,005,270	Q90K	probably damaging	Het
Slc30a6	A	G	17: 74,405,690	T61A	possibly damaging	Het
Slc39a11	C	A	11: 113,250,559	A234S	probably damaging	Het
Smg6	C	A	11: 75,156,238	N1252K	probably damaging	Het
Spata2	A	T	2: 167,484,307	D197E	probably damaging	Het
Spen	C	T	4: 141,470,370	A3396T	probably benign	Het
Spocd1	T	C	4: 129,948,968	F59L	probably damaging	Het
Tectb	T	A	19: 55,192,673		probably benign	Het
Tnnc1	G	A	14: 31,210,605	V82I	probably damaging	Het
Traf7	A	T	17: 24,510,041	V513D	probably damaging	Het
Vmn2r111	A	T	17: 22,571,929	Y129*	probably null	Het
Vrtn	T	A	12: 84,649,916	F480Y	probably benign	Het
Vwa8	A	T	14: 79,009,209	I664F	probably damaging	Het
Vwde	A	T	6: 13,193,137	V401E	probably damaging	Het
Zcchc11	T	A	4: 108,542,711		probably null	Het
Zfp655	A	T	5: 145,244,025	N231I	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
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
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'- TGTGGTATATGGACTGAATAATGGC -3'
(R):5'- CTGTGGTTTCATTAATCCTACAGGG -3'

Sequencing Primer
(F):5'- GGCAAAAATTGTACGTGATTTCAAAC -3'
(R):5'- CAGGGATCTTGGAAAATAAATGTTCC -3'

Posted On

2021-05-28