Mutagenetix > Incidental Mutations

Incidental Mutation 'R6902:Mier2'

538605

Institutional Source

Beutler Lab

Gene Symbol

Mier2

Ensembl Gene

ENSMUSG00000042570

Gene Name

MIER family member 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R6902 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79540245-79555199 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to A at 79540839 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062855] [ENSMUST00000165028] [ENSMUST00000172158]

Predicted Effect

probably benign
Transcript: ENSMUST00000062855

SMART Domains

Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570

Domain	Start	End	E-Value	Type
ELM2	194	246	1.46e-9	SMART
SANT	295	344	6.01e-8	SMART
low complexity region	441	458	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165028

SMART Domains

Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570

Domain	Start	End	E-Value	Type
ELM2	196	248	1.46e-9	SMART
SANT	297	346	6.01e-8	SMART
low complexity region	443	460	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000172158
AA Change: R84L

SMART Domains

Protein: ENSMUSP00000129732
Gene: ENSMUSG00000042570
AA Change: R84L

Domain	Start	End	E-Value	Type
low complexity region	27	40	N/A	INTRINSIC
low complexity region	157	168	N/A	INTRINSIC
low complexity region	230	244	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	G	13: 119,488,144		probably benign	Het
9530053A07Rik	C	T	7: 28,137,213	R186C	probably damaging	Het
Abcc9	T	A	6: 142,679,227	S481C	probably damaging	Het
Adgrl3	C	A	5: 81,689,587	S773R	probably damaging	Het
Alkbh5	G	A	11: 60,538,555	A45T	probably benign	Het
Ankrd6	C	A	4: 32,806,419	Q576H	probably damaging	Het
Ankrd6	T	A	4: 32,806,420	Q576L	probably damaging	Het
Carmil1	T	C	13: 24,115,545	N332S	possibly damaging	Het
Cc2d2b	A	G	19: 40,816,289	Q1250R	possibly damaging	Het
Chd9	A	C	8: 91,042,951	N2539T	probably damaging	Het
Clec4b2	C	T	6: 123,201,028	Q101*	probably null	Het
Clstn2	A	T	9: 97,469,822	F517I	probably damaging	Het
Cog2	A	G	8: 124,546,691	K590E	probably damaging	Het
Coq9	G	A	8: 94,850,552	E182K	probably benign	Het
Focad	C	T	4: 88,230,476	R477C	unknown	Het
Gja10	G	T	4: 32,601,905	H160N	probably damaging	Het
Gm1673	G	A	5: 33,983,579		probably benign	Het
Gpr132	T	A	12: 112,852,210	Y332F	probably benign	Het
Herc2	A	G	7: 56,135,486	T1495A	probably benign	Het
Hivep3	T	A	4: 120,095,995	S503T	possibly damaging	Het
Ifi44	A	T	3: 151,745,899	I190N	possibly damaging	Het
Igf1r	T	A	7: 68,004,163	C150S	probably damaging	Het
Ighv1-42	T	A	12: 114,937,535	N4Y	possibly damaging	Het
Klra9	T	A	6: 130,179,040	I251F	probably benign	Het
Krt79	T	C	15: 101,931,879	N294S	probably benign	Het
Lama2	T	G	10: 26,981,629	T3075P	probably damaging	Het
Lrfn1	T	G	7: 28,459,813	C386G	probably benign	Het
Lrp2	T	C	2: 69,459,503	D3664G	probably damaging	Het
Mfsd3	T	A	15: 76,703,149	M344K	probably damaging	Het
Mmp2	G	A	8: 92,836,917	V340M	probably damaging	Het
Mrgprb3	T	A	7: 48,643,699	I35F	probably benign	Het
Myo5b	A	T	18: 74,676,685	I613F	possibly damaging	Het
Olfr299	T	A	7: 86,465,787	C125*	probably null	Het
Olfr585	A	T	7: 103,098,355	I205F	probably benign	Het
Olfr867	A	T	9: 20,055,374	L30M	possibly damaging	Het
Olfr948	C	A	9: 39,319,019	L198F	probably damaging	Het
Pan2	A	G	10: 128,315,637	T867A	probably benign	Het
Papolb	T	A	5: 142,528,151	H579L	probably benign	Het
Pcf11	C	A	7: 92,658,299	G887V	probably damaging	Het
Pdzd8	A	G	19: 59,301,397	S524P	possibly damaging	Het
Pole3	T	C	4: 62,524,063		probably benign	Het
Prdm14	C	T	1: 13,122,421	V365I	probably benign	Het
Shank1	T	A	7: 44,356,815	F1985L	probably benign	Het
Slc13a1	T	C	6: 24,097,666	I421V	possibly damaging	Het
Slc2a6	C	T	2: 27,023,160	V374M	probably benign	Het
Spata1	A	T	3: 146,475,323	N293K	possibly damaging	Het
Stk40	T	A	4: 126,137,812	D366E	probably benign	Het
Tas2r117	T	C	6: 132,803,325	L142S	probably damaging	Het
Tcrg-V1	T	C	13: 19,340,020	L2P	probably benign	Het
Tomm70a	T	C	16: 57,138,081	S266P	probably damaging	Het
Vipr2	A	T	12: 116,139,199	T310S	possibly damaging	Het
Vti1a	A	T	19: 55,499,241		probably null	Het
Zfp961	A	G	8: 71,968,678	K345R	probably damaging	Het

Other mutations in Mier2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Mier2	APN	10	79541180	makesense	probably null
IGL01761:Mier2	APN	10	79548352	critical splice donor site	probably null
IGL01845:Mier2	APN	10	79549584	missense	possibly damaging	0.69
IGL02336:Mier2	APN	10	79548350	unclassified	probably benign
IGL02882:Mier2	APN	10	79547721	missense	probably damaging	1.00
IGL02902:Mier2	APN	10	79549622	missense	probably damaging	1.00
R0325:Mier2	UTSW	10	79542596	critical splice donor site	probably null
R0972:Mier2	UTSW	10	79544621	unclassified	probably benign
R1326:Mier2	UTSW	10	79544709	missense	probably damaging	1.00
R1333:Mier2	UTSW	10	79545157	missense	probably benign	0.03
R1721:Mier2	UTSW	10	79548830	missense	probably damaging	1.00
R1867:Mier2	UTSW	10	79548830	missense	probably damaging	1.00
R1868:Mier2	UTSW	10	79548830	missense	probably damaging	1.00
R2015:Mier2	UTSW	10	79541202	splice site	probably null
R2273:Mier2	UTSW	10	79544534	missense	probably damaging	1.00
R2274:Mier2	UTSW	10	79544534	missense	probably damaging	1.00
R3729:Mier2	UTSW	10	79545042	unclassified	probably benign
R3874:Mier2	UTSW	10	79541797	missense	possibly damaging	0.49
R3881:Mier2	UTSW	10	79548750	unclassified	probably null
R4755:Mier2	UTSW	10	79549197	missense	probably damaging	1.00
R4758:Mier2	UTSW	10	79550348	missense	probably damaging	1.00
R5070:Mier2	UTSW	10	79549577	missense	probably benign	0.03
R6282:Mier2	UTSW	10	79544742	missense	probably damaging	1.00
R6785:Mier2	UTSW	10	79544713	missense	probably damaging	1.00
R6861:Mier2	UTSW	10	79541156	start gained	probably benign
R6869:Mier2	UTSW	10	79542669	missense	probably damaging	0.99
R6897:Mier2	UTSW	10	79544739	missense	probably damaging	0.99
R6946:Mier2	UTSW	10	79540839	utr 3 prime	probably benign
R6968:Mier2	UTSW	10	79540642	utr 3 prime	probably benign
R6971:Mier2	UTSW	10	79542429	missense	possibly damaging	0.53
R7072:Mier2	UTSW	10	79540299	missense	unknown
R7350:Mier2	UTSW	10	79540298	missense	unknown
R7443:Mier2	UTSW	10	79540455	missense	unknown
R7506:Mier2	UTSW	10	79550342	missense	probably benign	0.14
R7545:Mier2	UTSW	10	79541194	missense	possibly damaging	0.79
R7625:Mier2	UTSW	10	79542709	missense	probably damaging	1.00
R7669:Mier2	UTSW	10	79549676	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGCTTTTCCTGAAGTGAAG -3'
(R):5'- TCTGCTTCAGAACATGGTGGG -3'

Sequencing Primer
(F):5'- GCTTTTCCTGAAGTGAAGACAGCC -3'
(R):5'- CTTCAGAACATGGTGGGATTCAG -3'

Posted On

2018-11-06