Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00708:Meis2'

12727

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Meis2

Ensembl Gene

ENSMUSG00000027210

Gene Name

Meis homeobox 2

Synonyms

Mrg1, Meis2, A430109D20Rik, Stra10

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

IGL00708

Quality Score

Status

Chromosome

Chromosomal Location

115693545-115896320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115694725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 473 (D473N)

Ref Sequence

ENSEMBL: ENSMUSP00000028639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028639] [ENSMUST00000074285] [ENSMUST00000102538] [ENSMUST00000110906] [ENSMUST00000110907] [ENSMUST00000110908]

AlphaFold

P97367

Predicted Effect

probably benign
Transcript: ENSMUST00000028639
AA Change: D473N

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028639
Gene: ENSMUSG00000027210
AA Change: D473N

Domain	Start	End	E-Value	Type
Pfam:Meis_PKNOX_N	110	194	3.8e-48	PFAM
HOX	276	341	4.27e-12	SMART
low complexity region	395	402	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074285

SMART Domains

Protein: ENSMUSP00000073898
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
HOX	275	340	4.27e-12	SMART
low complexity region	375	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102538
AA Change: D466N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099597
Gene: ENSMUSG00000027210
AA Change: D466N

Domain	Start	End	E-Value	Type
HOX	276	341	4.27e-12	SMART
low complexity region	388	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110906

SMART Domains

Protein: ENSMUSP00000106531
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
HOX	275	340	4.27e-12	SMART
low complexity region	382	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110907

SMART Domains

Protein: ENSMUSP00000106532
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
HOX	276	341	4.27e-12	SMART
low complexity region	383	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110908

SMART Domains

Protein: ENSMUSP00000106533
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
HOX	276	341	4.27e-12	SMART
low complexity region	376	389	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118654

SMART Domains

Protein: ENSMUSP00000113915
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120995

SMART Domains

Protein: ENSMUSP00000113630
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151279

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcriptional regulators and several members have been shown to be essential contributors to developmental programs. In mice, a knock-out of this gene leads to lethality at embryonic day 14, accompanied with hemorrhaging. Embryos lacking this gene show defects in tissues derived from the neural crest, suggesting a critical role of this gene during cranial and cardiac neural crest cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele display early fetal lethality with hemorrhaging, persistent truncus arteriosis, absence of cardic valves and defects in other neural crest cell derived tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	G	7: 66,618,650 (GRCm39)	E388G	probably damaging	Het
Arid4a	T	C	12: 71,119,502 (GRCm39)	S374P	probably benign	Het
Ccdc186	A	T	19: 56,801,879 (GRCm39)	S79R	probably benign	Het
Cela3b	C	A	4: 137,149,280 (GRCm39)	L241F	probably benign	Het
Dsg4	T	A	18: 20,594,383 (GRCm39)	V504D	probably benign	Het
Fhip1b	C	T	7: 105,037,467 (GRCm39)	R372Q	probably damaging	Het
Mri1	A	T	8: 84,978,277 (GRCm39)	I338N	probably damaging	Het
Mroh8	A	G	2: 157,062,090 (GRCm39)	S868P	probably damaging	Het
Mtus1	G	A	8: 41,537,386 (GRCm39)	T110I	probably damaging	Het
Mug2	A	G	6: 122,024,446 (GRCm39)	E506G	possibly damaging	Het
Napsa	A	G	7: 44,230,845 (GRCm39)	T71A	probably benign	Het
Prepl	T	C	17: 85,385,935 (GRCm39)	Y243C	probably damaging	Het
Prkdc	A	G	16: 15,597,290 (GRCm39)	I2817V	probably damaging	Het
Rbm26	C	T	14: 105,397,396 (GRCm39)	V69I	unknown	Het
Tcerg1	T	A	18: 42,704,190 (GRCm39)	N949K	probably benign	Het
Tgfbr1	C	T	4: 47,383,992 (GRCm39)	T45I	probably benign	Het
Trim37	T	A	11: 87,077,219 (GRCm39)	D516E	probably damaging	Het
Wdr7	C	T	18: 63,911,104 (GRCm39)	T832M	probably benign	Het
Zfp280d	T	C	9: 72,219,417 (GRCm39)	V198A	probably benign	Het

Other mutations in Meis2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Meis2	APN	2	115,699,274 (GRCm39)	missense	probably damaging	1.00
IGL01095:Meis2	APN	2	115,694,905 (GRCm39)	missense	probably benign
IGL02199:Meis2	APN	2	115,830,737 (GRCm39)	missense	probably benign	0.01
IGL02562:Meis2	APN	2	115,879,627 (GRCm39)	missense	probably damaging	1.00
IGL02902:Meis2	APN	2	115,893,804 (GRCm39)	missense	probably damaging	0.96
IGL03183:Meis2	APN	2	115,890,002 (GRCm39)	missense	probably damaging	0.98
IGL03205:Meis2	APN	2	115,694,731 (GRCm39)	missense	probably benign	0.08
P4748:Meis2	UTSW	2	115,694,961 (GRCm39)	missense	probably benign	0.03
R0369:Meis2	UTSW	2	115,893,897 (GRCm39)	missense	possibly damaging	0.82
R0410:Meis2	UTSW	2	115,694,709 (GRCm39)	makesense	probably null
R1465:Meis2	UTSW	2	115,889,151 (GRCm39)	missense	probably benign	0.03
R1465:Meis2	UTSW	2	115,889,151 (GRCm39)	missense	probably benign	0.03
R1548:Meis2	UTSW	2	115,889,183 (GRCm39)	missense	probably damaging	0.97
R1593:Meis2	UTSW	2	115,830,745 (GRCm39)	missense	probably damaging	1.00
R3835:Meis2	UTSW	2	115,752,228 (GRCm39)	missense	probably damaging	1.00
R4353:Meis2	UTSW	2	115,890,044 (GRCm39)	missense	probably damaging	0.99
R4756:Meis2	UTSW	2	115,830,686 (GRCm39)	missense	probably damaging	1.00
R4936:Meis2	UTSW	2	115,694,893 (GRCm39)	missense	probably benign
R5841:Meis2	UTSW	2	115,889,145 (GRCm39)	missense	probably benign
R5967:Meis2	UTSW	2	115,694,790 (GRCm39)	missense	probably benign	0.04
R6661:Meis2	UTSW	2	115,694,751 (GRCm39)	missense	probably damaging	0.97
R6781:Meis2	UTSW	2	115,879,636 (GRCm39)	missense	probably benign	0.20
R7239:Meis2	UTSW	2	115,889,484 (GRCm39)	splice site	probably null
R7606:Meis2	UTSW	2	115,893,801 (GRCm39)	missense	possibly damaging	0.93
R7919:Meis2	UTSW	2	115,697,788 (GRCm39)	missense	probably benign	0.01
R8134:Meis2	UTSW	2	115,697,369 (GRCm39)	missense	probably benign	0.22
R8797:Meis2	UTSW	2	115,694,986 (GRCm39)	missense	probably benign
R8881:Meis2	UTSW	2	115,889,116 (GRCm39)	missense	probably benign	0.16
R9102:Meis2	UTSW	2	115,694,760 (GRCm39)	missense	probably benign	0.26
R9153:Meis2	UTSW	2	115,697,756 (GRCm39)	missense	probably benign	0.10
R9497:Meis2	UTSW	2	115,694,724 (GRCm39)	missense	possibly damaging	0.95

Posted On

2012-12-06