Mutagenetix > Incidental Mutation

Incidental Mutation 'R9759:Mier1'

732896

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 #

R9759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103114390-103165754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103162528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 483 (T483I)

Ref Sequence

ENSEMBL: ENSMUSP00000095558 (fasta)

Gene Model

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

AlphaFold

Q5UAK0

Predicted Effect

probably benign
Transcript: ENSMUST00000030247
AA Change: T455I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: T455I

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: T483I

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: T483I

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: T257I

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522
AA Change: T257I

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: T438I

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: T438I

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: T455I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: T455I

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	T	13: 119,479,453	W508L	probably damaging	Het
Abt1	G	T	13: 23,422,269	Q172K	probably damaging	Het
Aoah	C	A	13: 20,816,568	H57Q	probably damaging	Het
Cpxm2	T	C	7: 132,154,513	E34G	probably benign	Het
Ddx25	C	T	9: 35,545,969	R350Q	probably benign	Het
Dnah9	G	A	11: 66,075,118	H1691Y	probably null	Het
Doc2g	A	T	19: 4,006,571	H319L	probably benign	Het
Enah	A	C	1: 182,014,346	V6G	unknown	Het
Fam135b	T	G	15: 71,463,840	T502P	probably benign	Het
Frem2	A	G	3: 53,655,497	S530P	possibly damaging	Het
Gm19410	A	G	8: 35,785,784	R628G	possibly damaging	Het
Hdac7	T	C	15: 97,802,108	T614A	probably benign	Het
Ift88	T	A	14: 57,434,799	L32*	probably null	Het
Insm2	C	T	12: 55,600,605	T378M	possibly damaging	Het
Kctd3	G	A	1: 188,978,589	T459M	probably damaging	Het
Khsrp	A	G	17: 57,025,925	L188P	probably benign	Het
Kynu	A	G	2: 43,679,869	I388V	probably benign	Het
Met	T	C	6: 17,555,562	V1090A	probably damaging	Het
Mthfsd	A	G	8: 121,097,876	S297P	probably benign	Het
P2rx5	A	T	11: 73,167,515	I259F	probably damaging	Het
Pax3	A	G	1: 78,193,778	L138P	probably damaging	Het
Pfpl	G	C	19: 12,428,933	E183Q	probably damaging	Het
Rbm12	A	T	2: 156,096,626	H575Q	probably benign	Het
Scube1	C	T	15: 83,608,264	R953H	probably benign	Het
Sirt1	A	G	10: 63,320,737	S705P	probably benign	Het
Slc23a3	ATT	ATTT	1: 75,133,281		probably null	Het
Slc46a3	T	C	5: 147,886,424	T203A	probably benign	Het
Snta1	G	T	2: 154,380,969	T278K	probably benign	Het
Stac3	A	G	10: 127,508,214	D327G	possibly damaging	Het
Timm44	C	A	8: 4,267,707	E205*	probably null	Het
Timm8a2	A	T	14: 122,034,804	T40S	probably damaging	Het
Vmn2r116	A	G	17: 23,401,386	N698S	possibly damaging	Het
Zik1	A	C	7: 10,489,789	C460W	possibly damaging	Het
Zmynd8	A	C	2: 165,838,826	I229S	possibly 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
R9353:Mier1	UTSW	4	103155603	missense	probably damaging	0.97
R9537:Mier1	UTSW	4	103162561	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCACTCAGATTGGTGCTTTCC -3'
(R):5'- CCATGTGAGACTGCTTCCTG -3'

Sequencing Primer
(F):5'- TTGTAGCAGATATTTCAGAAGAGTTG -3'
(R):5'- GTGAGACTGCTTCCTGGAAAAACTC -3'

Posted On

2022-11-14