Mutagenetix > Incidental Mutation

Incidental Mutation 'R7641:Mier1'

590235

Institutional Source

Beutler Lab

Gene Symbol

Mier1

Ensembl Gene

ENSMUSG00000028522

Gene Name

MEIR1 treanscription regulator

Synonyms

4933425I22Rik, 5830411K19Rik

MMRRC Submission

045699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7641 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102971587-103022951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102996637 bp (GRCm39)

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: 121,657,370 (GRCm39)	Q641L	probably benign	Het
Aknad1	A	T	3: 108,679,291 (GRCm39)	H474L	probably benign	Het
Alkal1	A	T	1: 6,459,712 (GRCm39)	Y96F	probably damaging	Het
Cars1	A	G	7: 143,140,840 (GRCm39)		probably null	Het
Chtf18	A	T	17: 25,941,249 (GRCm39)		probably null	Het
Cog2	C	A	8: 125,264,621 (GRCm39)	N333K	probably damaging	Het
Col6a5	T	A	9: 105,758,625 (GRCm39)	R2194*	probably null	Het
Dnah14	A	T	1: 181,535,098 (GRCm39)	I2355L	probably benign	Het
Dock8	G	A	19: 25,151,697 (GRCm39)		probably null	Het
Dpy19l3	A	C	7: 35,394,734 (GRCm39)	D601E	probably damaging	Het
Elf1	G	A	14: 79,808,163 (GRCm39)	G205E	probably damaging	Het
Fsip2	A	T	2: 82,817,256 (GRCm39)	K4330*	probably null	Het
Gm6525	A	T	3: 84,082,150 (GRCm39)	T24S	probably benign	Het
Golga4	G	T	9: 118,386,643 (GRCm39)	R1255L	probably benign	Het
Gpn2	A	T	4: 133,315,970 (GRCm39)	Q243L	probably null	Het
Grb10	T	C	11: 11,883,492 (GRCm39)	K588E	possibly damaging	Het
Gys1	T	C	7: 45,104,495 (GRCm39)	S641P	probably damaging	Het
H2-M5	T	A	17: 37,298,323 (GRCm39)	M331L	probably benign	Het
Ighv6-6	T	A	12: 114,398,837 (GRCm39)	I10L	probably benign	Het
Jmy	C	T	13: 93,579,107 (GRCm39)	R675Q	probably damaging	Het
Lonp2	A	T	8: 87,392,386 (GRCm39)	Q484L	probably benign	Het
Map3k20	T	A	2: 72,228,705 (GRCm39)	L308H	probably damaging	Het
Mep1b	T	C	18: 21,228,034 (GRCm39)	F546L	possibly damaging	Het
Msh3	C	A	13: 92,349,011 (GRCm39)	V1074L	probably benign	Het
Muc6	A	T	7: 141,224,247 (GRCm39)	L1645Q	unknown	Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Pdyn	A	T	2: 129,531,748 (GRCm39)	V14E	possibly damaging	Het
Prdm16	T	A	4: 154,429,901 (GRCm39)	H356L	probably damaging	Het
Rasa3	A	G	8: 13,634,961 (GRCm39)	C453R	probably benign	Het
Rasgrf2	C	T	13: 92,267,914 (GRCm39)	S30N	possibly damaging	Het
Rlf	A	G	4: 121,016,393 (GRCm39)	S315P	probably damaging	Het
Rusc2	C	T	4: 43,425,335 (GRCm39)	R1147W	possibly damaging	Het
Sacs	T	A	14: 61,440,320 (GRCm39)	Y789N	probably damaging	Het
Sap130	T	C	18: 31,786,676 (GRCm39)	L289P	probably damaging	Het
Septin3	A	G	15: 82,174,983 (GRCm39)	Y308C	probably damaging	Het
Slc2a12	A	G	10: 22,569,893 (GRCm39)	D528G	probably damaging	Het
Slc2a13	A	G	15: 91,156,359 (GRCm39)	*638Q	probably null	Het
Smchd1	T	A	17: 71,697,474 (GRCm39)	E1155D	probably benign	Het
Sorcs2	G	A	5: 36,555,296 (GRCm39)	R32C	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Tonsl	C	T	15: 76,517,852 (GRCm39)	D650N	probably damaging	Het
Tti1	A	T	2: 157,850,949 (GRCm39)	F97I	possibly damaging	Het
Ttn	T	C	2: 76,572,554 (GRCm39)	Q26113R	possibly damaging	Het
Unc5d	A	T	8: 29,210,003 (GRCm39)	N444K	probably damaging	Het
Usp17la	A	T	7: 104,510,654 (GRCm39)	K420*	probably null	Het
Vmn2r114	T	C	17: 23,527,177 (GRCm39)	N452D	possibly damaging	Het
Vps16	T	C	2: 130,282,448 (GRCm39)	V427A	probably benign	Het
Wdr5b	T	A	16: 35,862,712 (GRCm39)	V277D	probably damaging	Het
Zan	T	A	5: 137,465,370 (GRCm39)	M462L	possibly damaging	Het
Zfp40	A	G	17: 23,397,257 (GRCm39)	V80A	possibly damaging	Het
Zfp930	A	T	8: 69,681,337 (GRCm39)	H344L	probably damaging	Het

Other mutations in Mier1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01586:Mier1	APN	4	103,012,769 (GRCm39)	missense	probably damaging	0.99
IGL01599:Mier1	APN	4	103,012,738 (GRCm39)	missense	possibly damaging	0.58
IGL01996:Mier1	APN	4	102,984,473 (GRCm39)	missense	possibly damaging	0.93
IGL02228:Mier1	APN	4	102,988,259 (GRCm39)	missense	possibly damaging	0.85
R0194:Mier1	UTSW	4	102,996,716 (GRCm39)	splice site	probably null
R0505:Mier1	UTSW	4	103,012,820 (GRCm39)	splice site	probably benign
R0684:Mier1	UTSW	4	102,996,631 (GRCm39)	missense	probably damaging	0.99
R0691:Mier1	UTSW	4	102,996,699 (GRCm39)	missense	probably benign	0.07
R2997:Mier1	UTSW	4	102,988,233 (GRCm39)	missense	probably damaging	1.00
R4273:Mier1	UTSW	4	103,019,628 (GRCm39)	missense	possibly damaging	0.93
R4728:Mier1	UTSW	4	102,997,402 (GRCm39)	missense	probably damaging	1.00
R4769:Mier1	UTSW	4	102,997,417 (GRCm39)	missense	probably benign	0.01
R4798:Mier1	UTSW	4	102,988,195 (GRCm39)	missense	probably damaging	1.00
R5075:Mier1	UTSW	4	102,996,670 (GRCm39)	missense	probably benign	0.02
R5260:Mier1	UTSW	4	103,019,907 (GRCm39)	missense	probably benign	0.04
R5663:Mier1	UTSW	4	103,007,739 (GRCm39)	missense	probably damaging	0.96
R5924:Mier1	UTSW	4	103,016,899 (GRCm39)	nonsense	probably null
R7253:Mier1	UTSW	4	102,996,544 (GRCm39)	splice site	probably null
R7304:Mier1	UTSW	4	102,996,599 (GRCm39)	nonsense	probably null
R7998:Mier1	UTSW	4	103,019,812 (GRCm39)	missense	probably benign	0.09
R8000:Mier1	UTSW	4	102,988,240 (GRCm39)	missense	probably damaging	1.00
R8557:Mier1	UTSW	4	102,996,543 (GRCm39)	splice site	probably null
R9353:Mier1	UTSW	4	103,012,800 (GRCm39)	missense	probably damaging	0.97
R9537:Mier1	UTSW	4	103,019,758 (GRCm39)	missense	probably benign	0.00
R9759:Mier1	UTSW	4	103,019,725 (GRCm39)	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