Mutagenetix > Incidental Mutation

Incidental Mutation 'R4834:Mier3'

373095

Institutional Source

Beutler Lab

Gene Symbol

Mier3

Ensembl Gene

ENSMUSG00000032727

Gene Name

MIER family member 3

Synonyms

D130064H19Rik

MMRRC Submission

041977-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R4834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111822607-111855130 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 111851643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 542 (Q542*)

Ref Sequence

ENSEMBL: ENSMUSP00000104895 (fasta)

Gene Model

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

AlphaFold

Q3UHF3

Predicted Effect

probably null
Transcript: ENSMUST00000047412
AA Change: Q514*

SMART Domains

Protein: ENSMUSP00000036809
Gene: ENSMUSG00000032727
AA Change: Q514*

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
AA Change: Q539*

SMART Domains

Protein: ENSMUSP00000104894
Gene: ENSMUSG00000032727
AA Change: Q539*

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
AA Change: Q542*

SMART Domains

Protein: ENSMUSP00000104895
Gene: ENSMUSG00000032727
AA Change: Q542*

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,343,787 (GRCm39)	D146A	possibly damaging	Het
Acsl5	C	A	19: 55,268,991 (GRCm39)	D217E	probably benign	Het
Acss3	A	G	10: 106,920,666 (GRCm39)		probably null	Het
Adam24	G	A	8: 41,132,738 (GRCm39)	G69R	probably damaging	Het
Adgrg7	A	T	16: 56,553,232 (GRCm39)	W622R	probably damaging	Het
Ajm1	T	C	2: 25,469,530 (GRCm39)	E127G	possibly damaging	Het
Ankrd26	T	C	6: 118,500,679 (GRCm39)	M931V	probably benign	Het
Ano8	C	T	8: 71,936,939 (GRCm39)	V187M	probably damaging	Het
Ap3d1	A	T	10: 80,555,560 (GRCm39)	C348S	probably damaging	Het
Apob	T	C	12: 8,064,101 (GRCm39)	V376A	possibly damaging	Het
Arhgap21	A	T	2: 20,870,130 (GRCm39)	D925E	probably damaging	Het
Bmp6	T	A	13: 38,669,817 (GRCm39)	V367E	probably damaging	Het
Bmp8b	A	T	4: 123,016,843 (GRCm39)	Q348L	probably damaging	Het
Ccr1l1	T	C	9: 123,777,742 (GRCm39)	K235R	probably damaging	Het
Cd59a	G	A	2: 103,944,431 (GRCm39)	C93Y	probably damaging	Het
Clstn3	C	T	6: 124,408,912 (GRCm39)		probably null	Het
Col4a2	C	A	8: 11,456,836 (GRCm39)	Y236*	probably null	Het
Csn1s2a	T	C	5: 87,929,637 (GRCm39)	F79L	probably benign	Het
Cyp4a10	A	C	4: 115,383,005 (GRCm39)	Y360S	probably damaging	Het
Cyp4a29	A	T	4: 115,106,867 (GRCm39)	I175F	probably benign	Het
Dck	T	A	5: 88,920,595 (GRCm39)	I105N	probably damaging	Het
Dicer1	A	G	12: 104,662,850 (GRCm39)	L1577P	probably benign	Het
Disp2	G	A	2: 118,622,985 (GRCm39)	S1239N	probably benign	Het
Dop1b	T	C	16: 93,536,892 (GRCm39)	M1T	probably null	Het
E130308A19Rik	T	A	4: 59,690,317 (GRCm39)	C50*	probably null	Het
Elf2	A	T	3: 51,184,642 (GRCm39)	D14E	probably damaging	Het
Epm2aip1	C	T	9: 111,102,262 (GRCm39)	R412C	probably benign	Het
Foxm1	T	C	6: 128,346,410 (GRCm39)	F114L	probably damaging	Het
Glcci1	C	T	6: 8,582,601 (GRCm39)	R134*	probably null	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gspt1	T	C	16: 11,040,581 (GRCm39)	K576E	probably damaging	Het
H2-M10.3	T	C	17: 36,678,286 (GRCm39)	K180E	probably benign	Het
Hecw2	A	T	1: 53,869,911 (GRCm39)	V1439E	probably damaging	Het
Hr	T	C	14: 70,797,362 (GRCm39)	S561P	probably damaging	Het
Hunk	T	C	16: 90,293,086 (GRCm39)	V456A	probably benign	Het
Il1rap	T	A	16: 26,495,685 (GRCm39)	D97E	probably damaging	Het
Inpp5d	T	G	1: 87,625,245 (GRCm39)	V474G	possibly damaging	Het
Itsn1	T	A	16: 91,703,677 (GRCm39)	L87*	probably null	Het
Izumo3	T	C	4: 92,035,208 (GRCm39)	D3G	possibly damaging	Het
Kifc2	T	A	15: 76,545,511 (GRCm39)	M1K	probably null	Het
Krt8	T	A	15: 101,907,256 (GRCm39)	I276F	probably damaging	Het
Ksr2	C	A	5: 117,806,392 (GRCm39)	Q402K	probably benign	Het
Lama2	A	G	10: 26,882,745 (GRCm39)	V2606A	probably benign	Het
Met	A	G	6: 17,491,412 (GRCm39)	H58R	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Msl3l2	C	T	10: 55,991,655 (GRCm39)	R127C	probably damaging	Het
Naglu	T	C	11: 100,967,814 (GRCm39)	L588P	probably benign	Het
Nf1	T	C	11: 79,437,123 (GRCm39)	L2013P	probably damaging	Het
Nid1	A	G	13: 13,683,408 (GRCm39)	Y1162C	probably damaging	Het
Nlrc5	G	T	8: 95,232,113 (GRCm39)	R1313L	probably benign	Het
Nrg1	A	G	8: 32,407,747 (GRCm39)	V162A	probably benign	Het
Nup188	T	C	2: 30,229,596 (GRCm39)	L1310P	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or14a259	G	A	7: 86,012,952 (GRCm39)	L198F	probably benign	Het
Or4f6	A	G	2: 111,839,276 (GRCm39)	L85P	probably damaging	Het
Or5ae1	T	G	7: 84,565,491 (GRCm39)	F168C	probably damaging	Het
Pbk	T	A	14: 66,052,733 (GRCm39)	L192*	probably null	Het
Pcdhga4	T	C	18: 37,818,490 (GRCm39)	I13T	probably benign	Het
Peg10	A	T	6: 4,754,294 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,848,176 (GRCm39)	V261D	probably damaging	Het
Ppp2r5b	T	A	19: 6,280,540 (GRCm39)	T313S	possibly damaging	Het
Ptk2	A	T	15: 73,087,945 (GRCm39)		probably null	Het
Ptpn7	T	A	1: 135,065,618 (GRCm39)		probably null	Het
Rab11fip1	A	G	8: 27,643,111 (GRCm39)	S563P	probably damaging	Het
Scn1a	A	T	2: 66,158,866 (GRCm39)	C351*	probably null	Het
Slc10a5	A	T	3: 10,399,859 (GRCm39)	V267D	probably damaging	Het
Slc37a2	T	A	9: 37,146,404 (GRCm39)	M368L	probably damaging	Het
Slc49a4	T	A	16: 35,555,945 (GRCm39)	T172S	probably benign	Het
Slc6a20b	T	A	9: 123,425,113 (GRCm39)	T585S	probably benign	Het
Srcap	T	C	7: 127,156,782 (GRCm39)		probably null	Het
Tbx18	T	C	9: 87,609,502 (GRCm39)	M178V	possibly damaging	Het
Tmprss11b	C	A	5: 86,811,418 (GRCm39)	C172F	probably damaging	Het
Traf5	T	C	1: 191,751,198 (GRCm39)	Q91R	probably benign	Het
Trappc8	A	T	18: 20,958,122 (GRCm39)	Y1248N	probably damaging	Het
Trpa1	A	G	1: 14,966,747 (GRCm39)	L539S	possibly damaging	Het
Tyrp1	T	A	4: 80,764,833 (GRCm39)	Y3*	probably null	Het
Ubr7	A	T	12: 102,727,761 (GRCm39)	K94N	probably damaging	Het
Ugt2a1	C	A	5: 87,633,894 (GRCm39)		probably null	Het
Unc50	T	A	1: 37,471,710 (GRCm39)	I120K	probably damaging	Het
Usp28	T	C	9: 48,912,836 (GRCm39)	V29A	probably damaging	Het
Usp9y	A	G	Y: 1,317,002 (GRCm39)	I1849T	probably benign	Het
Vmn2r102	T	A	17: 19,898,203 (GRCm39)	V406E	probably damaging	Het
Vmn2r4	G	A	3: 64,317,484 (GRCm39)	R85W	probably benign	Het
Xirp2	A	G	2: 67,346,750 (GRCm39)	D2997G	probably benign	Het
Zc2hc1c	A	T	12: 85,336,982 (GRCm39)	E213V	probably damaging	Het
Zfp420	C	T	7: 29,573,759 (GRCm39)		probably benign	Het
Zfp641	C	T	15: 98,191,585 (GRCm39)	E34K	probably damaging	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
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
R6406:Mier3	UTSW	13	111,846,343 (GRCm39)	critical splice donor site	probably null
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'- TGAAGATGGGCATTGCTGTC -3'
(R):5'- CTGCGGATCATAGTTCATTTCC -3'

Sequencing Primer
(F):5'- GTCCCCGAATCCTTTATGAATGAGG -3'
(R):5'- AAACCTGATAGCTCCCCT -3'

Posted On

2016-03-01