Mutagenetix > Incidental Mutation

Incidental Mutation 'R9537:Mier1'

719733

Institutional Source

Beutler Lab

Gene Symbol

Mier1

Ensembl Gene

ENSMUSG00000028522

Gene Name

MEIR1 treanscription regulator

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103114390-103165754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103162561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 494 (N494S)

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: N466S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: N466S

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: N494S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: N494S

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: N268S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522
AA Change: N268S

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: N449S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: N449S

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: N466S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: N466S

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,153,162	K341E	possibly damaging	Het
Adgra3	A	G	5: 49,960,865	Y1114H	possibly damaging	Het
Atp5j	A	G	16: 84,828,470	Y82H	probably damaging	Het
Bcl2a1d	T	G	9: 88,731,473	I83L	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Bglap3	T	C	3: 88,368,832	D71G	probably benign	Het
Bnip3l	G	A	14: 67,008,765	P7L	possibly damaging	Het
Chmp2b	T	C	16: 65,551,046	K15E	probably benign	Het
Chrm3	A	T	13: 9,877,426	W525R	probably damaging	Het
Col7a1	A	T	9: 108,955,352	K143*	probably null	Het
D6Ertd527e	G	C	6: 87,111,857	S334T	unknown	Het
Dnaic1	A	G	4: 41,629,790		probably null	Het
Dnhd1	G	A	7: 105,695,533	G2028D	probably damaging	Het
Esyt3	C	T	9: 99,317,239	R773Q	probably damaging	Het
Ffar1	T	C	7: 30,860,600	T291A	probably benign	Het
Gm5767	G	T	16: 8,683,313	C11F		Het
Golga2	G	T	2: 32,288,301		probably benign	Het
Hapln2	T	A	3: 88,024,473		probably null	Het
Ing1	T	C	8: 11,561,889	L203P	probably benign	Het
Med1	T	C	11: 98,171,760	T171A	possibly damaging	Het
Mib2	A	T	4: 155,657,495	L387H	probably damaging	Het
Myof	A	G	19: 37,907,606	L1847P	probably damaging	Het
Ndst3	A	T	3: 123,671,513	V270D		Het
Nup160	T	C	2: 90,729,744	L1271S	possibly damaging	Het
Osgep	A	T	14: 50,924,662		probably null	Het
Ptgfr	G	T	3: 151,835,808	T21N	possibly damaging	Het
Ptgs1	T	C	2: 36,230,727	S23P	unknown	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Smu1	A	G	4: 40,755,671	S65P	probably benign	Het
Spef2	T	C	15: 9,601,799	Y1459C	unknown	Het
Spen	A	G	4: 141,471,704	V3204A	probably benign	Het
Spen	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	4: 141,516,845		probably benign	Het
Timm44	G	A	8: 4,260,576	T392I	possibly damaging	Het
Tnc	A	T	4: 63,966,584	I1818N	probably damaging	Het
Trpm1	G	T	7: 64,153,868		probably benign	Het
Ttc14	A	G	3: 33,803,198	Y231C	probably damaging	Het
Ube3b	A	G	5: 114,387,184	R23G	probably damaging	Het
Usp40	T	C	1: 88,007,395	Y10C	probably benign	Het
Vmn2r107	C	A	17: 20,374,887	S567R	probably benign	Het
Zfp112	T	C	7: 24,127,087	Y831H	probably damaging	Het
Zfy2	T	A	Y: 2,108,596	T355S		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
R9759:Mier1	UTSW	4	103162528	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- ACTCAGATTGGTGCTTTCCTTG -3'
(R):5'- TCCTCAAACTTCCCATGTGAG -3'

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

Posted On

2022-07-18