Mutagenetix > Incidental Mutation

Incidental Mutation 'R9353:Mier1'

708209

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 #

R9353 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103114390-103165754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103155603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 397 (H397Q)

Ref Sequence

ENSEMBL: ENSMUSP00000095558 (fasta)

Gene Model

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

AlphaFold

Q5UAK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030247
AA Change: H369Q

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: H369Q

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: H397Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: H397Q

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 damaging
Transcript: ENSMUST00000106855
AA Change: H171Q

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

SMART Domains

Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522
AA Change: H171Q

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: H352Q

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

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: H352Q

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: H369Q

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: H369Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (44/45)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	A	T	8: 22,027,874	V316D	possibly damaging	Het
Cc2d2a	T	C	5: 43,703,349		probably null	Het
Ccdc88a	A	G	11: 29,477,433	D1046G	probably damaging	Het
Ccl12	A	T	11: 82,102,611	D25V	possibly damaging	Het
Cdh23	G	A	10: 60,307,527	A3005V	possibly damaging	Het
Ces3a	G	T	8: 105,049,915	R45L	probably benign	Het
Cntln	G	T	4: 84,884,360		probably benign	Het
Crybg3	C	A	16: 59,600,744		probably null	Het
Cxxc4	G	T	3: 134,240,152	G165C	unknown	Het
Dab2ip	G	A	2: 35,708,839	C181Y	probably damaging	Het
Dnah11	A	G	12: 118,179,699	V403A	probably benign	Het
Dnah12	T	C	14: 26,856,550	S3089P	probably damaging	Het
Dnajc13	A	T	9: 104,190,372	I1196N	probably benign	Het
Faiml	T	C	9: 99,234,409	Y76C	probably damaging	Het
Fam171b	T	A	2: 83,876,684	H299Q	probably benign	Het
Fbxo36	A	G	1: 84,896,538	N85S	probably benign	Het
Filip1	A	G	9: 79,818,341	F999L	possibly damaging	Het
Gm5096	A	G	18: 87,756,830	E159G	probably damaging	Het
Gm9573	T	C	17: 35,619,653	T1214A	unknown	Het
Gtf3c3	A	T	1: 54,406,052	S614R	possibly damaging	Het
Il18rap	A	G	1: 40,547,928	T457A	probably benign	Het
Inmt	C	T	6: 55,174,999		probably benign	Het
Kcnb1	C	T	2: 167,105,087	G614S	probably benign	Het
Kdm2a	C	T	19: 4,343,113	D405N		Het
Kdm5a	T	A	6: 120,427,769	V1324E	probably benign	Het
Lyn	A	T	4: 3,746,804	Y194F	possibly damaging	Het
Mdn1	A	G	4: 32,693,504	D1043G	probably damaging	Het
Mov10l1	T	A	15: 88,988,419	D105E	possibly damaging	Het
Nav3	A	G	10: 109,718,204	S1766P	probably damaging	Het
Ncdn	T	A	4: 126,750,671	E119D	probably benign	Het
Nckipsd	C	A	9: 108,814,272	A416E	probably damaging	Het
Nek5	A	G	8: 22,073,945	V623A	probably benign	Het
Oas1g	A	G	5: 120,885,923	Y108H	possibly damaging	Het
Olfr702	T	C	7: 106,823,855	T224A	probably benign	Het
P2ry1	T	C	3: 61,004,495	S352P	probably damaging	Het
Pde6a	T	C	18: 61,257,311	F535S	probably damaging	Het
Pitpnb	T	C	5: 111,383,025	L228P	probably damaging	Het
Rbck1	G	T	2: 152,319,225	H368N	probably damaging	Het
Snrnp35	T	A	5: 124,490,496	V124E	probably damaging	Het
Spdye4a	C	T	5: 143,219,038	M224I	probably benign	Het
Stau1	A	G	2: 166,950,347	Y424H	probably damaging	Het
Sult1c1	A	T	17: 53,964,032	D190E	probably benign	Het
Thbs1	A	G	2: 118,122,570	D887G	probably damaging	Het
Tiam2	C	T	17: 3,507,799	Q1233*	probably null	Het
Tmem88	A	G	11: 69,398,113	V38A	probably damaging	Het
Vmn1r219	G	A	13: 23,162,732	M30I	probably benign	Het
Zswim3	A	G	2: 164,820,341	H247R	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
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
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'- TTCATGAAGTAGCTCTGTTAAGGAG -3'
(R):5'- AGGAAACCTTGACTTCGTCC -3'

Sequencing Primer
(F):5'- CCGAACAAGATCAGTTGG -3'
(R):5'- GTCAGGACTACATAGCAAGATCTTG -3'

Posted On

2022-04-18