Incidental Mutation 'IGL02199:Meis2'
| ID |
284236 |
| 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)
|
| Stock # |
IGL02199
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
115693545-115896320 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115830737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 259
(V259I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099597
(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: V259I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000028639
Gene: ENSMUSG00000027210
AA Change: V259I
| 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
AA Change: V258I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073898
Gene: ENSMUSG00000027210
AA Change: V258I
| 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: V259I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099597
Gene: ENSMUSG00000027210
AA Change: V259I
| 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
AA Change: V258I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106531
Gene: ENSMUSG00000027210
AA Change: V258I
| 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
AA Change: V259I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106532
Gene: ENSMUSG00000027210
AA Change: V259I
| 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
AA Change: V259I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106533
Gene: ENSMUSG00000027210
AA Change: V259I
| 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: ENSMUST00000140461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154671
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Aspg |
T |
C |
12: 112,087,426 (GRCm39) |
V294A |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,907,957 (GRCm39) |
|
probably benign |
Het |
| Celf5 |
T |
A |
10: 81,318,318 (GRCm39) |
D41V |
possibly damaging |
Het |
| Clcn3 |
T |
A |
8: 61,386,126 (GRCm39) |
K282* |
probably null |
Het |
| Clcn3 |
T |
A |
8: 61,380,308 (GRCm39) |
T543S |
possibly damaging |
Het |
| Ctsj |
T |
A |
13: 61,150,351 (GRCm39) |
N216I |
probably damaging |
Het |
| Dusp28 |
A |
G |
1: 92,835,280 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
A |
G |
13: 63,015,193 (GRCm39) |
I262T |
probably damaging |
Het |
| Gata4 |
A |
G |
14: 63,437,912 (GRCm39) |
V413A |
possibly damaging |
Het |
| Glb1 |
A |
G |
9: 114,303,015 (GRCm39) |
N617S |
probably benign |
Het |
| Gm454 |
T |
A |
5: 138,202,285 (GRCm39) |
|
noncoding transcript |
Het |
| Hesx1 |
A |
G |
14: 26,723,481 (GRCm39) |
S104G |
probably benign |
Het |
| Igf2bp3 |
T |
C |
6: 49,065,458 (GRCm39) |
N478S |
probably benign |
Het |
| Klrk1 |
T |
C |
6: 129,598,207 (GRCm39) |
|
probably null |
Het |
| Lamb2 |
A |
G |
9: 108,357,824 (GRCm39) |
T116A |
possibly damaging |
Het |
| Mbd2 |
T |
C |
18: 70,726,371 (GRCm39) |
V270A |
probably damaging |
Het |
| Mtcl2 |
A |
T |
2: 156,872,865 (GRCm39) |
L882Q |
probably damaging |
Het |
| Ngly1 |
T |
A |
14: 16,290,844 (GRCm38) |
I442K |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 90,344,686 (GRCm39) |
L409P |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,926,775 (GRCm39) |
V1175I |
possibly damaging |
Het |
| Parp12 |
C |
T |
6: 39,073,524 (GRCm39) |
A434T |
probably benign |
Het |
| Prrt3 |
G |
A |
6: 113,471,770 (GRCm39) |
P801S |
probably damaging |
Het |
| Rps6ka2 |
G |
T |
17: 7,521,852 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
C |
A |
8: 69,496,632 (GRCm39) |
V344L |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,890,034 (GRCm39) |
T2103S |
probably damaging |
Het |
| Stoml2 |
A |
G |
4: 43,029,366 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
G |
12: 91,505,057 (GRCm39) |
L73R |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,080,779 (GRCm39) |
Q786* |
probably null |
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 |
|
IGL00708:Meis2
|
APN |
2 |
115,694,725 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01095:Meis2
|
APN |
2 |
115,694,905 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation