Mutagenetix > Incidental Mutation

Incidental Mutation 'R6406:Mier3'

516319

Institutional Source

Beutler Lab

Gene Symbol

Mier3

Ensembl Gene

ENSMUSG00000032727

Gene Name

MIER family member 3

Synonyms

D130064H19Rik

MMRRC Submission

044551-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R6406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111822607-111855130 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 111846343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047412] [ENSMUST00000109272] [ENSMUST00000137268] [ENSMUST00000231273] [ENSMUST00000231979]

AlphaFold

Q3UHF3

Predicted Effect

probably null
Transcript: ENSMUST00000047412

SMART Domains

Protein: ENSMUSP00000036809
Gene: ENSMUSG00000032727

Domain	Start	End	E-Value	Type
low complexity region	53	65	N/A	INTRINSIC
ELM2	149	203	8.33e-14	SMART
SANT	251	300	5.32e-9	SMART
low complexity region	509	522	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109271

SMART Domains

Protein: ENSMUSP00000104894
Gene: ENSMUSG00000032727

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	79	91	N/A	INTRINSIC
ELM2	175	229	8.33e-14	SMART
SANT	277	326	5.32e-9	SMART
low complexity region	535	548	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109272

SMART Domains

Protein: ENSMUSP00000104895
Gene: ENSMUSG00000032727

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
low complexity region	80	92	N/A	INTRINSIC
ELM2	176	230	8.33e-14	SMART
SANT	279	328	5.32e-9	SMART
low complexity region	537	550	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137268

SMART Domains

Protein: ENSMUSP00000117483
Gene: ENSMUSG00000032727

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
low complexity region	80	92	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231273

Predicted Effect

probably benign
Transcript: ENSMUST00000231979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232560

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,817,865 (GRCm39)	P29L	probably benign	Het
Acsm1	A	G	7: 119,261,484 (GRCm39)	N567S	probably benign	Het
Ahi1	T	G	10: 20,852,948 (GRCm39)	N505K	probably damaging	Het
Ank2	T	A	3: 126,825,874 (GRCm39)	D356V	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bpifb6	C	A	2: 153,746,457 (GRCm39)	T117K	possibly damaging	Het
C2cd6	T	C	1: 59,097,835 (GRCm39)	E418G	possibly damaging	Het
Cbx1	A	T	11: 96,692,364 (GRCm39)	K84*	probably null	Het
Cr2	A	G	1: 194,852,079 (GRCm39)	L90P	probably damaging	Het
Dclk1	A	G	3: 55,387,827 (GRCm39)	D91G	probably damaging	Het
Dock1	C	A	7: 134,747,215 (GRCm39)	Q1509K	probably benign	Het
Fzd1	T	G	5: 4,806,089 (GRCm39)	T498P	probably damaging	Het
Galnt12	A	G	4: 47,122,534 (GRCm39)	N271S	probably benign	Het
Gm12888	A	G	4: 121,176,654 (GRCm39)	I49T	possibly damaging	Het
Gria4	A	T	9: 4,427,077 (GRCm39)	W788R	probably damaging	Het
Ilf3	C	T	9: 21,307,540 (GRCm39)	A379V	probably damaging	Het
Islr2	A	G	9: 58,107,263 (GRCm39)	V43A	probably benign	Het
Jag1	T	A	2: 136,929,563 (GRCm39)	N782I	probably damaging	Het
Klhl8	T	A	5: 104,010,981 (GRCm39)	I539F	possibly damaging	Het
Lama5	A	T	2: 179,839,257 (GRCm39)	C750*	probably null	Het
Lrrc37a	T	A	11: 103,388,361 (GRCm39)	T2355S	unknown	Het
Lrrc8a	A	G	2: 30,147,103 (GRCm39)	H639R	possibly damaging	Het
Map1a	A	T	2: 121,131,224 (GRCm39)	D442V	probably damaging	Het
Msantd1	C	A	5: 35,080,665 (GRCm39)		probably null	Het
Ncapd2	C	A	6: 125,150,841 (GRCm39)	A785S	probably benign	Het
Ncbp2	CTCGTCTGG	C	16: 31,775,159 (GRCm39)		probably null	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Ndst4	T	C	3: 125,232,150 (GRCm39)	S240P	probably benign	Het
Nek9	T	C	12: 85,385,946 (GRCm39)	D17G	probably damaging	Het
Nkx6-1	C	T	5: 101,811,677 (GRCm39)	A142T	unknown	Het
Nt5dc1	T	C	10: 34,200,404 (GRCm39)	H205R	probably benign	Het
Or5b94	T	C	19: 12,652,184 (GRCm39)	I205T	probably benign	Het
Or9g3	T	A	2: 85,590,651 (GRCm39)	Q23L	possibly damaging	Het
Pafah1b1	A	G	11: 74,573,098 (GRCm39)	M322T	probably benign	Het
Parp2	A	G	14: 51,056,934 (GRCm39)	N353D	probably benign	Het
Pdcd6ip	T	C	9: 113,503,412 (GRCm39)	N452S	possibly damaging	Het
Pkd1l2	A	G	8: 117,762,586 (GRCm39)	V1397A	probably damaging	Het
Prkdc	T	A	16: 15,535,665 (GRCm39)	L1675Q	probably damaging	Het
Ptprt	T	C	2: 161,395,703 (GRCm39)	I1157V	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Sele	G	T	1: 163,878,312 (GRCm39)	C217F	probably damaging	Het
Spats1	T	A	17: 45,768,191 (GRCm39)	H125L	probably damaging	Het
Stard3	T	C	11: 98,269,595 (GRCm39)	V330A	probably benign	Het
Synj2	T	A	17: 6,069,846 (GRCm39)		probably benign	Het
Thoc1	T	A	18: 9,977,963 (GRCm39)	F301L	probably damaging	Het
Thumpd3	G	A	6: 113,032,924 (GRCm39)	E221K	probably damaging	Het
Trim61	T	C	8: 65,466,377 (GRCm39)	T295A	possibly damaging	Het
Trp53bp1	T	C	2: 121,101,093 (GRCm39)	Q35R	probably damaging	Het
Tsnaxip1	C	T	8: 106,570,615 (GRCm39)	T578I	probably benign	Het

Other mutations in Mier3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Mier3	APN	13	111,850,970 (GRCm39)	splice site	probably benign
IGL03295:Mier3	APN	13	111,840,215 (GRCm39)	missense	probably benign	0.00
IGL03054:Mier3	UTSW	13	111,822,848 (GRCm39)	start gained	probably benign
R0119:Mier3	UTSW	13	111,851,572 (GRCm39)	missense	probably damaging	1.00
R1106:Mier3	UTSW	13	111,844,763 (GRCm39)	missense	probably damaging	1.00
R1453:Mier3	UTSW	13	111,841,778 (GRCm39)	missense	probably damaging	1.00
R1463:Mier3	UTSW	13	111,848,289 (GRCm39)	missense	probably damaging	0.99
R1555:Mier3	UTSW	13	111,844,893 (GRCm39)	missense	probably damaging	0.98
R2413:Mier3	UTSW	13	111,851,662 (GRCm39)	utr 3 prime	probably benign
R3055:Mier3	UTSW	13	111,827,837 (GRCm39)	missense	probably damaging	1.00
R3114:Mier3	UTSW	13	111,843,182 (GRCm39)	missense	probably damaging	0.98
R3115:Mier3	UTSW	13	111,843,182 (GRCm39)	missense	probably damaging	0.98
R3116:Mier3	UTSW	13	111,843,182 (GRCm39)	missense	probably damaging	0.98
R4345:Mier3	UTSW	13	111,841,817 (GRCm39)	missense	probably damaging	1.00
R4834:Mier3	UTSW	13	111,851,643 (GRCm39)	nonsense	probably null
R5050:Mier3	UTSW	13	111,851,107 (GRCm39)	missense	possibly damaging	0.94
R5592:Mier3	UTSW	13	111,843,195 (GRCm39)	nonsense	probably null
R5869:Mier3	UTSW	13	111,851,384 (GRCm39)	missense	probably damaging	1.00
R7151:Mier3	UTSW	13	111,851,302 (GRCm39)	missense	probably benign	0.01
R7361:Mier3	UTSW	13	111,841,783 (GRCm39)	missense	possibly damaging	0.91
R7362:Mier3	UTSW	13	111,841,783 (GRCm39)	missense	possibly damaging	0.91
R7385:Mier3	UTSW	13	111,841,783 (GRCm39)	missense	possibly damaging	0.91
R7683:Mier3	UTSW	13	111,841,846 (GRCm39)	missense	probably benign
R8953:Mier3	UTSW	13	111,842,587 (GRCm39)	missense	probably benign	0.03
R9090:Mier3	UTSW	13	111,827,870 (GRCm39)	missense	probably benign	0.00
R9185:Mier3	UTSW	13	111,851,260 (GRCm39)	missense	probably benign	0.06
R9271:Mier3	UTSW	13	111,827,870 (GRCm39)	missense	probably benign	0.00
R9300:Mier3	UTSW	13	111,822,890 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGGGATGAACAAATGTCATGAC -3'
(R):5'- AGGTCTGCTTTGTCCTGTAAC -3'

Sequencing Primer
(F):5'- CTTAGGCCTGGAACTCATTGAGATC -3'
(R):5'- TGTCCTGTAACTACTACCAGTAACAG -3'

Posted On

2018-05-04