Mutagenetix > Incidental Mutation

Incidental Mutation 'R5924:Mier1'

461709

Institutional Source

Beutler Lab

Gene Symbol

Mier1

Ensembl Gene

ENSMUSG00000028522

Gene Name

MEIR1 treanscription regulator

Synonyms

MMRRC Submission

044119-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5924 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103114390-103165754 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 103159702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 380 (L380*)

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
AA Change: L380*

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: L380*

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
AA Change: L408*

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: L408*

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 null
Transcript: ENSMUST00000106855
AA Change: L182*

SMART Domains

Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522
AA Change: L182*

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
AA Change: L363*

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: L363*

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
AA Change: L380*

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: L380*

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

noncoding transcript
Transcript: ENSMUST00000128536

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 97.6%
20x: 92.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	C	18: 10,706,085	Y76C	probably damaging	Het
Agbl1	C	T	7: 76,409,234	T204I	probably benign	Het
Apc2	A	T	10: 80,312,150	I984F	probably damaging	Het
Art3	A	T	5: 92,412,232		probably benign	Het
B4galnt4	A	G	7: 141,070,829	M839V	probably damaging	Het
Bnip2	A	G	9: 69,997,162	D67G	probably benign	Het
Cdhr2	A	C	13: 54,726,683	D856A	probably benign	Het
Cep78	A	T	19: 15,961,066	L506Q	probably damaging	Het
Col6a1	A	G	10: 76,718,371		probably null	Het
Cyp3a44	A	T	5: 145,794,327	F221Y	possibly damaging	Het
Dcakd	C	A	11: 102,999,820	R47L	probably benign	Het
Ddr2	A	G	1: 169,994,628	V417A	probably benign	Het
Dnah5	A	T	15: 28,307,327	T1734S	probably benign	Het
Eefsec	A	T	6: 88,355,547	M227K	probably damaging	Het
Eif4g3	T	G	4: 138,201,926	N1628K	probably damaging	Het
Epha5	A	T	5: 84,233,674	Y439*	probably null	Het
Esrp1	G	T	4: 11,361,174	T324K	probably damaging	Het
Flnb	T	A	14: 7,890,765	M549K	probably benign	Het
Fndc1	T	A	17: 7,773,610	Q418L	unknown	Het
Ggnbp2	A	G	11: 84,858,537	S144P	possibly damaging	Het
Gk5	T	C	9: 96,150,510		probably null	Het
Gpr137	A	G	19: 6,939,361	L228P	probably damaging	Het
Gpt2	C	A	8: 85,493,004	S26R	probably damaging	Het
Hras	C	T	7: 141,192,461	E91K	possibly damaging	Het
Ighv1-36	G	A	12: 114,880,157	P28S	possibly damaging	Het
Kalrn	G	A	16: 34,243,833	T807M	probably damaging	Het
Lifr	A	G	15: 7,172,972	T365A	probably benign	Het
Lpin1	A	T	12: 16,544,657	S795T	possibly damaging	Het
Magi2	A	C	5: 20,611,069	M1128L	probably benign	Het
Magi3	A	T	3: 104,054,538		probably null	Het
Mtmr14	A	G	6: 113,253,789	Y118C	probably damaging	Het
Myof	A	T	19: 37,982,973	M277K	probably damaging	Het
Nlrp6	T	C	7: 140,923,490	V473A	probably damaging	Het
Nsfl1c	T	A	2: 151,505,400	N164K	probably benign	Het
Olfm3	A	T	3: 115,122,538	Q353L	probably benign	Het
Olfr1170	T	C	2: 88,224,547	I162V	probably benign	Het
Olfr131	A	G	17: 38,082,363	V205A	probably benign	Het
Olfr727	A	G	14: 50,126,682	Y35C	probably damaging	Het
Opn5	A	T	17: 42,611,308	M1K	probably null	Het
Pax8	A	G	2: 24,421,622	S434P	probably damaging	Het
Pigo	G	A	4: 43,023,389	Q256*	probably null	Het
Pik3ap1	A	C	19: 41,296,456	F597V	probably damaging	Het
Pkd2	A	G	5: 104,498,558	K744E	probably damaging	Het
Prom1	T	C	5: 44,004,963	T729A	probably benign	Het
Rasal1	T	C	5: 120,675,517	L652P	probably damaging	Het
Sebox	T	C	11: 78,504,191		probably null	Het
Setd2	A	T	9: 110,574,044	I1918F	probably benign	Het
Slc24a2	A	T	4: 87,011,588		probably null	Het
Slc28a1	G	T	7: 81,115,612	G25V	probably benign	Het
Slc51a	A	G	16: 32,477,172	F259L	possibly damaging	Het
Slco2a1	T	A	9: 103,046,699	C37*	probably null	Het
Speer4f2	A	G	5: 17,376,624	D188G	probably damaging	Het
Stim2	A	G	5: 54,102,643	K156E	probably benign	Het
Strn4	T	C	7: 16,838,321	I653T	probably damaging	Het
Tacr3	G	T	3: 134,932,299	D406Y	possibly damaging	Het
Utp20	G	A	10: 88,815,922	R400C	probably benign	Het
V1rd19	C	T	7: 24,003,949	S280L	probably benign	Het
Vmn2r4	C	T	3: 64,389,264	C700Y	probably damaging	Het
Zufsp	A	T	10: 33,927,547	C514S	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
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
R9759:Mier1	UTSW	4	103162528	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GCTTCGAACCTTCATACATAGCAC -3'
(R):5'- TGAGCCATTCCAAGTGTCC -3'

Sequencing Primer
(F):5'- GTTGACAGGAAGTGTTCACATCC -3'
(R):5'- CCAAGTGTCCTTTACAGTGTAGAAC -3'

Posted On

2017-02-28