Mutagenetix > Incidental Mutation

Incidental Mutation 'R8000:Mier1'

616313

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 #

R8000 (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 T at 103131043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 83 (T83S)

Ref Sequence

ENSEMBL: ENSMUSP00000095558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030247] [ENSMUST00000097945] [ENSMUST00000106857] [ENSMUST00000106858] [ENSMUST00000134533]

AlphaFold

Q5UAK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000030247
AA Change: T55S

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

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: T55S

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: T83S

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

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: T83S

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: ENSMUST00000106857
AA Change: T38S

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

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: T38S

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 damaging
Transcript: ENSMUST00000106858
AA Change: T55S

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

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: T55S

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: ENSMUST00000134533

Coding Region Coverage

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029I15Rik	A	G	2: 92,385,527	K69E	unknown	Het
4833423E24Rik	A	G	2: 85,518,726	V14A	probably benign	Het
Aadacl2	A	G	3: 60,017,375	K121R	possibly damaging	Het
Acaca	A	G	11: 84,392,231	K2208E	possibly damaging	Het
Actn1	A	G	12: 80,199,008	F134L	probably damaging	Het
Akt3	A	T	1: 177,050,197	V335D	probably damaging	Het
Arhgef10	T	G	8: 14,930,054	I98S	probably damaging	Het
Celf4	T	C	18: 25,504,517	N209S	probably benign	Het
Col4a4	G	A	1: 82,541,297	P59L	unknown	Het
Dmwd	C	T	7: 19,080,735	L437F	probably damaging	Het
Dock4	T	A	12: 40,833,119	L1642I	probably benign	Het
Fam213a	A	C	14: 40,994,526	*230G	probably null	Het
Fap	A	G	2: 62,502,798		probably null	Het
Fbxo18	A	T	2: 11,767,289	Y194N	probably benign	Het
Fras1	A	G	5: 96,762,677	T3322A	probably damaging	Het
Gabra4	A	G	5: 71,623,961	F369S	probably damaging	Het
Igkv9-124	T	A	6: 67,942,152	D92V	probably damaging	Het
Kcna6	C	A	6: 126,738,985	E314*	probably null	Het
Kyat1	A	C	2: 30,192,053	S25A	probably benign	Het
Lars2	G	A	9: 123,436,244	G455D	probably damaging	Het
Mertk	A	G	2: 128,771,498	H478R	probably benign	Het
Mmp1a	C	A	9: 7,476,214	H437Q	probably benign	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Neb	G	T	2: 52,288,844	A1300D	probably damaging	Het
Nell2	T	A	15: 95,435,274	L167F	probably damaging	Het
Olfr1426	T	C	19: 12,087,994	D266G	probably damaging	Het
Olfr239	G	C	17: 33,199,347	A100P	probably damaging	Het
Olfr527	T	A	7: 140,336,342	M160K	possibly damaging	Het
Pald1	T	C	10: 61,347,439	T339A	probably benign	Het
Pex13	A	C	11: 23,655,915	L105W	probably damaging	Het
Ptprd	A	C	4: 76,066,242	F556V	possibly damaging	Het
Rgp1	T	A	4: 43,581,664	C314S	probably benign	Het
Rnaseh2a	G	A	8: 84,966,049		probably benign	Het
Rpl7	A	T	1: 16,102,725	M154K	probably benign	Het
Samd9l	A	T	6: 3,373,034	L1409Q	probably damaging	Het
Slc35f3	A	G	8: 126,321,073	T51A	probably benign	Het
Slc7a10	A	G	7: 35,200,440	Y76C		Het
Slk	G	T	19: 47,608,905	A51S		Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Stk38	A	T	17: 28,992,448	V51E	probably benign	Het
Tecta	A	T	9: 42,367,184	C1009*	probably null	Het
Vmn1r228	A	T	17: 20,776,965	M97K	possibly damaging	Het
Xpo4	T	C	14: 57,589,946	D931G	probably damaging	Het
Zfp503	T	C	14: 21,986,159	T230A	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
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'- GTTCTTCCCTCTGCACAAAAGAC -3'
(R):5'- CATGGTCCATTTCTGATACAGATG -3'

Sequencing Primer
(F):5'- TTCCCTCTGCACAAAAGACTATTC -3'
(R):5'- TTTCCAGCATAAACAGCAC -3'

Posted On

2020-01-23