Mutagenetix > Incidental Mutation

Incidental Mutation 'R7641:Mier1'

590235

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 #

R7641 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103114390-103165754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103139440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 133 (E133G)

Ref Sequence

ENSEMBL: ENSMUSP00000095558 (fasta)

Gene Model

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

AlphaFold

Q5UAK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000030247
AA Change: E105G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: E105G

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

possibly damaging
Transcript: ENSMUST00000097945
AA Change: E133G

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: E133G

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

SMART Domains

Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522

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

possibly damaging
Transcript: ENSMUST00000106857
AA Change: E88G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: E88G

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: E105G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: E105G

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,519,307	Q641L	probably benign	Het
Aknad1	A	T	3: 108,771,975	H474L	probably benign	Het
Alkal1	A	T	1: 6,389,488	Y96F	probably damaging	Het
Cars	A	G	7: 143,587,103		probably null	Het
Chtf18	A	T	17: 25,722,275		probably null	Het
Cog2	C	A	8: 124,537,882	N333K	probably damaging	Het
Col6a5	T	A	9: 105,881,426	R2194*	probably null	Het
Dnah14	A	T	1: 181,707,533	I2355L	probably benign	Het
Dock8	G	A	19: 25,174,333		probably null	Het
Dpy19l3	A	C	7: 35,695,309	D601E	probably damaging	Het
Elf1	G	A	14: 79,570,723	G205E	probably damaging	Het
Fsip2	A	T	2: 82,986,912	K4330*	probably null	Het
Gm6525	A	T	3: 84,174,843	T24S	probably benign	Het
Golga4	G	T	9: 118,557,575	R1255L	probably benign	Het
Gpn2	A	T	4: 133,588,659	Q243L	probably null	Het
Grb10	T	C	11: 11,933,492	K588E	possibly damaging	Het
Gys1	T	C	7: 45,455,071	S641P	probably damaging	Het
H2-M5	T	A	17: 36,987,431	M331L	probably benign	Het
Ighv6-6	T	A	12: 114,435,217	I10L	probably benign	Het
Jmy	C	T	13: 93,442,599	R675Q	probably damaging	Het
Lonp2	A	T	8: 86,665,758	Q484L	probably benign	Het
Map3k20	T	A	2: 72,398,361	L308H	probably damaging	Het
Mep1b	T	C	18: 21,094,977	F546L	possibly damaging	Het
Msh3	C	A	13: 92,212,503	V1074L	probably benign	Het
Muc6	A	T	7: 141,639,825	L1645Q	unknown	Het
Nat10	G	A	2: 103,743,090	A354V	probably damaging	Het
Olfr870	A	G	9: 20,171,253	L106P	possibly damaging	Het
Pdyn	A	T	2: 129,689,828	V14E	possibly damaging	Het
Prdm16	T	A	4: 154,345,444	H356L	probably damaging	Het
Rasa3	A	G	8: 13,584,961	C453R	probably benign	Het
Rasgrf2	C	T	13: 92,131,406	S30N	possibly damaging	Het
Rlf	A	G	4: 121,159,196	S315P	probably damaging	Het
Rusc2	C	T	4: 43,425,335	R1147W	possibly damaging	Het
Sacs	T	A	14: 61,202,871	Y789N	probably damaging	Het
Sap130	T	C	18: 31,653,623	L289P	probably damaging	Het
Sept3	A	G	15: 82,290,782	Y308C	probably damaging	Het
Slc2a12	A	G	10: 22,693,994	D528G	probably damaging	Het
Slc2a13	A	G	15: 91,272,156	*638Q	probably null	Het
Smchd1	T	A	17: 71,390,479	E1155D	probably benign	Het
Sorcs2	G	A	5: 36,397,952	R32C	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Tonsl	C	T	15: 76,633,652	D650N	probably damaging	Het
Tti1	A	T	2: 158,009,029	F97I	possibly damaging	Het
Ttn	T	C	2: 76,742,210	Q26113R	possibly damaging	Het
Unc5d	A	T	8: 28,719,975	N444K	probably damaging	Het
Usp17la	A	T	7: 104,861,447	K420*	probably null	Het
Vmn2r114	T	C	17: 23,308,203	N452D	possibly damaging	Het
Vps16	T	C	2: 130,440,528	V427A	probably benign	Het
Wdr5b	T	A	16: 36,042,342	V277D	probably damaging	Het
Zan	T	A	5: 137,467,108	M462L	possibly damaging	Het
Zfp40	A	G	17: 23,178,283	V80A	possibly damaging	Het
Zfp930	A	T	8: 69,228,685	H344L	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
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'- TGTGGTATATGGACTGAATAATGGC -3'
(R):5'- TCTCATGGAAGTGAATCCTAAGG -3'

Sequencing Primer
(F):5'- GGCAAAAATTGTACGTGATTTCAAAC -3'
(R):5'- TGGAAGTGAATCCTAAGGAATTTTC -3'

Posted On

2019-10-24