Mutagenetix > Incidental Mutation

Incidental Mutation 'R8953:Mier3'

681785

Institutional Source

Beutler Lab

Gene Symbol

Mier3

Ensembl Gene

ENSMUSG00000032727

Gene Name

MIER family member 3

Synonyms

D130064H19Rik

MMRRC Submission

068789-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R8953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111822607-111855130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111842587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 136 (T136K)

Ref Sequence

ENSEMBL: ENSMUSP00000156206 (fasta)

Gene Model

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

AlphaFold

Q3UHF3

Predicted Effect

probably benign
Transcript: ENSMUST00000047412
AA Change: T136K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036809
Gene: ENSMUSG00000032727
AA Change: T136K

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

SMART Domains

Protein: ENSMUSP00000104894
Gene: ENSMUSG00000032727
AA Change: T161K

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 benign
Transcript: ENSMUST00000109272
AA Change: T163K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104895
Gene: ENSMUSG00000032727
AA Change: T163K

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
AA Change: T136K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000231979
AA Change: T136K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,892,002 (GRCm39)	V88A	probably benign	Het
Abca17	C	A	17: 24,518,015 (GRCm39)	V765L	probably benign	Het
Atp2b2	T	A	6: 113,737,630 (GRCm39)	T915S	possibly damaging	Het
Cacna1s	C	T	1: 136,025,170 (GRCm39)	H992Y	possibly damaging	Het
Castor1	A	T	11: 4,171,249 (GRCm39)	I244F	probably benign	Het
Clpp	T	A	17: 57,298,373 (GRCm39)	M113K	probably damaging	Het
Cmklr2	A	G	1: 63,222,272 (GRCm39)	L321P	probably damaging	Het
Csn3	A	G	5: 88,077,809 (GRCm39)	Q105R	possibly damaging	Het
Dcaf1	G	A	9: 106,735,542 (GRCm39)	R830Q	possibly damaging	Het
Dnah17	A	T	11: 118,016,238 (GRCm39)		probably benign	Het
Etv4	A	G	11: 101,662,513 (GRCm39)		probably null	Het
Fos	A	G	12: 85,522,826 (GRCm39)	D246G	probably benign	Het
Foxo1	T	C	3: 52,253,675 (GRCm39)	S613P	probably damaging	Het
Gabra2	A	T	5: 71,163,525 (GRCm39)	C261S	probably damaging	Het
Garem1	A	T	18: 21,264,388 (GRCm39)		probably null	Het
Gmip	T	G	8: 70,269,427 (GRCm39)	L533R	probably damaging	Het
Havcr1	A	G	11: 46,647,006 (GRCm39)	T147A	possibly damaging	Het
Helz2	C	T	2: 180,874,884 (GRCm39)	R1870Q	probably damaging	Het
Itprid2	T	C	2: 79,490,839 (GRCm39)	Y986H	probably damaging	Het
Kcnk3	A	C	5: 30,779,382 (GRCm39)	K144T	probably damaging	Het
Lama5	A	G	2: 179,835,313 (GRCm39)	V1293A	probably damaging	Het
Man2b1	A	G	8: 85,818,539 (GRCm39)	I498V	probably benign	Het
Map6	T	C	7: 98,965,078 (GRCm39)	L289P	probably damaging	Het
Mapk7	G	T	11: 61,383,792 (GRCm39)	D43E	possibly damaging	Het
Medag	A	G	5: 149,350,765 (GRCm39)	Y194C	probably damaging	Het
Mertk	A	G	2: 128,620,716 (GRCm39)		probably benign	Het
Ndc1	T	A	4: 107,238,890 (GRCm39)	W242R	probably damaging	Het
Nlrp1b	A	G	11: 71,052,632 (GRCm39)	V932A	probably damaging	Het
Or2m12	T	A	16: 19,105,269 (GRCm39)	M75L	probably benign	Het
Or5p55	G	A	7: 107,567,251 (GRCm39)	V216I	probably benign	Het
Or5w15	A	T	2: 87,568,371 (GRCm39)	M99K	probably benign	Het
Or9a4	G	T	6: 40,548,676 (GRCm39)	A119S	possibly damaging	Het
Otub2	A	T	12: 103,370,585 (GRCm39)	D289V	probably damaging	Het
P2rx3	A	G	2: 84,853,842 (GRCm39)	V133A	possibly damaging	Het
Pde4a	C	A	9: 21,122,030 (GRCm39)	T585K	probably damaging	Het
Pik3c2a	A	T	7: 115,987,320 (GRCm39)	Y534N	probably benign	Het
Pip5kl1	A	G	2: 32,469,991 (GRCm39)	D232G	possibly damaging	Het
Pklr	C	T	3: 89,049,612 (GRCm39)	S234L	probably damaging	Het
Pkn1	T	C	8: 84,410,815 (GRCm39)	K271E	probably damaging	Het
Plch1	T	G	3: 63,639,126 (GRCm39)	H449P	possibly damaging	Het
Pparg	T	C	6: 115,418,507 (GRCm39)	L92P	possibly damaging	Het
Pramel51	A	G	12: 88,144,070 (GRCm39)	C248R	probably benign	Het
Ptgdr2	C	T	19: 10,917,786 (GRCm39)	T101I	probably benign	Het
Rad54l2	A	T	9: 106,570,461 (GRCm39)	H1286Q	probably benign	Het
Ralgapa1	A	G	12: 55,867,546 (GRCm39)	S3P	probably damaging	Het
Rictor	G	A	15: 6,823,928 (GRCm39)	V1598I	probably benign	Het
Rph3al	G	T	11: 75,797,401 (GRCm39)	C98*	probably null	Het
Rpn2	A	G	2: 157,163,746 (GRCm39)	T613A	probably damaging	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Rusf1	T	G	7: 127,872,678 (GRCm39)	Q423H	probably benign	Het
Sh3bp4	A	G	1: 89,072,159 (GRCm39)	I336V	probably damaging	Het
Slc6a20b	T	C	9: 123,438,254 (GRCm39)	N174S	probably damaging	Het
Spta1	A	G	1: 174,058,241 (GRCm39)	N1903S	probably benign	Het
Tacc2	T	C	7: 130,227,487 (GRCm39)	S1391P	probably benign	Het
Terb1	T	A	8: 105,195,431 (GRCm39)	D570V	probably damaging	Het
Trhde	T	A	10: 114,338,966 (GRCm39)	I615F	probably damaging	Het
Ttc13	T	C	8: 125,402,088 (GRCm39)	N556S	probably damaging	Het
Ttn	T	A	2: 76,568,228 (GRCm39)	D19228V	probably damaging	Het
Unc13c	T	A	9: 73,840,044 (GRCm39)	Y269F	probably benign	Het
Usp33	T	A	3: 152,080,420 (GRCm39)	V517E	possibly damaging	Het
Wee1	A	G	7: 109,723,691 (GRCm39)	D202G	probably benign	Het
Zfp318	T	A	17: 46,731,356 (GRCm39)	S1120T	probably benign	Het
Zfr2	C	A	10: 81,084,271 (GRCm39)	N650K	probably damaging	Het
Znfx1	G	A	2: 166,897,421 (GRCm39)	T501I	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
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
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
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'- CCTTGTGACAGATGCTAGCTG -3'
(R):5'- GTCATCTAGTTAGGCCACTTTAATG -3'

Sequencing Primer
(F):5'- ATGCTAGCTGTGAAGACTGTAC -3'
(R):5'- TTGTGAGCCACTAAACCTGG -3'

Posted On

2021-08-31