Mutagenetix > Incidental Mutation

Incidental Mutation 'R6847:Meis3'

534808

Institutional Source

Beutler Lab

Gene Symbol

Meis3

Ensembl Gene

ENSMUSG00000041420

Gene Name

Meis homeobox 3

Synonyms

Mrg2

MMRRC Submission

045021-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15909015-15920429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15917789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 314 (N314S)

Ref Sequence

ENSEMBL: ENSMUSP00000002495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002495] [ENSMUST00000176446] [ENSMUST00000176506] [ENSMUST00000177156]

AlphaFold

P97368

Predicted Effect

probably damaging
Transcript: ENSMUST00000002495
AA Change: N314S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002495
Gene: ENSMUSG00000041420
AA Change: N314S

Domain	Start	End	E-Value	Type
low complexity region	88	101	N/A	INTRINSIC
low complexity region	230	244	N/A	INTRINSIC
HOX	265	330	9.15e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176446

Predicted Effect

probably damaging
Transcript: ENSMUST00000176506
AA Change: N297S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134918
Gene: ENSMUSG00000041420
AA Change: N297S

Domain	Start	End	E-Value	Type
low complexity region	88	101	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
HOX	248	313	9.15e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177156

SMART Domains

Protein: ENSMUSP00000135103
Gene: ENSMUSG00000041420

Domain	Start	End	E-Value	Type
low complexity region	88	101	N/A	INTRINSIC
low complexity region	230	244	N/A	INTRINSIC
Pfam:Homeobox_KN	283	313	2e-12	PFAM

Meta Mutation Damage Score

0.8552

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: The protein encoding this gene belongs to the three amino acid loop extension family of homeodomain transcription factors, which play essential roles in many embryonic processes. These proteins are characterized by an atypical homeodomain containing a three amino acid loop extension between helices 1 and 2. Expression of this gene begins during the compaction stage of embryogenesis and continues into the blastocyst stage. This gene is also expressed in pancreatic islet cells and beta-cells and regulates beta-cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,021,465 (GRCm39)	I675T	probably benign	Het
Adgrb3	A	T	1: 25,133,003 (GRCm39)	M1121K	probably benign	Het
Ak9	A	G	10: 41,233,797 (GRCm39)		probably null	Het
Akr1c6	T	A	13: 4,488,497 (GRCm39)	C34*	probably null	Het
Akt3	G	A	1: 176,859,225 (GRCm39)	P449S	probably damaging	Het
Atg2b	A	T	12: 105,602,047 (GRCm39)	V1643E	probably damaging	Het
Atp2c1	T	C	9: 105,295,778 (GRCm39)	I819V	probably damaging	Het
Casp3	C	T	8: 47,089,301 (GRCm39)	A183V	probably benign	Het
Cdk1	A	T	10: 69,174,358 (GRCm39)	D288E	probably benign	Het
Cep131	G	A	11: 119,956,517 (GRCm39)	R944W	probably damaging	Het
Cep290	A	G	10: 100,399,281 (GRCm39)	K2268E	probably damaging	Het
Crybg2	A	G	4: 133,792,857 (GRCm39)	E164G	probably benign	Het
Cubn	A	C	2: 13,449,064 (GRCm39)		probably null	Het
Dnajc14	A	T	10: 128,652,656 (GRCm39)	E571D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eef1b2	A	G	1: 63,217,648 (GRCm39)	E44G	probably benign	Het
Eml6	C	T	11: 29,768,447 (GRCm39)	V747I	probably benign	Het
Ext1	T	G	15: 53,208,550 (GRCm39)	Q70H	probably benign	Het
Gbp2b	T	A	3: 142,303,940 (GRCm39)	C12S	probably damaging	Het
Gbp8	A	C	5: 105,179,093 (GRCm39)	D135E	probably benign	Het
Gm12886	A	T	4: 121,273,916 (GRCm39)	L100*	probably null	Het
Gpatch1	A	T	7: 34,992,983 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,588,925 (GRCm39)	M34L	probably benign	Het
Il12a	G	T	3: 68,602,899 (GRCm39)	D160Y	probably damaging	Het
Klhl2	A	G	8: 65,212,816 (GRCm39)	L241P	probably damaging	Het
Krt80	T	C	15: 101,256,610 (GRCm39)	E195G	probably benign	Het
Lgi1	T	C	19: 38,289,738 (GRCm39)	V268A	probably damaging	Het
Lrrfip1	A	T	1: 91,032,850 (GRCm39)	D216V	probably damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	T	16: 48,965,451 (GRCm39)	I1119F	possibly damaging	Het
Nav2	A	T	7: 49,141,204 (GRCm39)	Q916H	probably benign	Het
Ncam2	A	T	16: 81,229,606 (GRCm39)	Q22L	probably damaging	Het
Or5b118	A	T	19: 13,448,402 (GRCm39)	I23F	probably benign	Het
P2rx4	G	A	5: 122,865,814 (GRCm39)	V329M	probably damaging	Het
Peg10	A	G	6: 4,754,279 (GRCm39)		probably benign	Het
Pgp	T	C	17: 24,690,375 (GRCm39)	L267P	probably damaging	Het
Pou2af2	G	A	9: 51,201,504 (GRCm39)	T184M	probably damaging	Het
Prdm2	A	C	4: 142,859,520 (GRCm39)	S1257A	probably benign	Het
Prr12	T	C	7: 44,695,164 (GRCm39)	N1434S	unknown	Het
Psmc3ip	A	T	11: 100,985,999 (GRCm39)	H40Q	probably damaging	Het
Ptprc	A	T	1: 138,016,283 (GRCm39)	N526K	probably damaging	Het
Sec63	T	A	10: 42,667,249 (GRCm39)	D138E	probably damaging	Het
Serpinb13	A	G	1: 106,926,663 (GRCm39)	N220D	probably benign	Het
Siva1	G	A	12: 112,611,344 (GRCm39)		probably benign	Het
Slc39a12	A	G	2: 14,454,728 (GRCm39)	H546R	probably damaging	Het
Slc7a1	G	A	5: 148,271,468 (GRCm39)	A497V	probably benign	Het
Smg5	G	T	3: 88,249,859 (GRCm39)	K95N	probably damaging	Het
Speer1a	G	A	5: 11,394,134 (GRCm39)	V78M	probably damaging	Het
Traj50	T	A	14: 54,405,101 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,813,472 (GRCm39)	V1261A	probably damaging	Het
Zc3h11a	A	T	1: 133,566,700 (GRCm39)		probably null	Het

Other mutations in Meis3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Meis3	APN	7	15,912,872 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL02508:Meis3	APN	7	15,912,722 (GRCm39)	splice site	probably null
IGL03125:Meis3	APN	7	15,912,695 (GRCm39)	missense	probably damaging	1.00
IGL03383:Meis3	APN	7	15,917,744 (GRCm39)	missense	probably damaging	1.00
R0032:Meis3	UTSW	7	15,916,210 (GRCm39)	unclassified	probably benign
R1147:Meis3	UTSW	7	15,917,701 (GRCm39)	unclassified	probably benign
R1471:Meis3	UTSW	7	15,911,496 (GRCm39)	nonsense	probably null
R3054:Meis3	UTSW	7	15,916,378 (GRCm39)	missense	probably damaging	1.00
R3927:Meis3	UTSW	7	15,911,419 (GRCm39)	missense	probably benign	0.06
R5314:Meis3	UTSW	7	15,917,989 (GRCm39)	missense	probably damaging	0.99
R6713:Meis3	UTSW	7	15,916,255 (GRCm39)	nonsense	probably null
R7218:Meis3	UTSW	7	15,918,626 (GRCm39)	missense	probably benign
R7517:Meis3	UTSW	7	15,911,743 (GRCm39)	missense	probably damaging	1.00
R7540:Meis3	UTSW	7	15,911,418 (GRCm39)	nonsense	probably null
R7699:Meis3	UTSW	7	15,911,481 (GRCm39)	missense	probably benign
R7700:Meis3	UTSW	7	15,911,481 (GRCm39)	missense	probably benign
R7790:Meis3	UTSW	7	15,916,322 (GRCm39)	missense	probably benign	0.37
R8902:Meis3	UTSW	7	15,911,887 (GRCm39)	missense	probably benign	0.17
R8909:Meis3	UTSW	7	15,919,385 (GRCm39)	missense	possibly damaging	0.83
R9095:Meis3	UTSW	7	15,917,764 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGGCTTTGTTGAGCTCCAC -3'
(R):5'- CCGGGCATTAATAAACCTGGG -3'

Sequencing Primer
(F):5'- GTTGAGCTCCACCCCTTTGG -3'
(R):5'- GCATTAATAAACCTGGGAAGTGATG -3'

Posted On

2018-09-12