Incidental Mutation 'R5967:Meis2'
ID |
470646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meis2
|
Ensembl Gene |
ENSMUSG00000027210 |
Gene Name |
Meis homeobox 2 |
Synonyms |
Mrg1, Meis2, A430109D20Rik, Stra10 |
MMRRC Submission |
043248-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.854)
|
Stock # |
R5967 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
115693545-115896320 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 115694790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 444
(T444I)
|
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: T451I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000028639 Gene: ENSMUSG00000027210 AA Change: T451I
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: T444I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000099597 Gene: ENSMUSG00000027210 AA Change: T444I
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: 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: ENSMUST00000151279
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189640
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149217
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177493
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
T |
A |
3: 116,587,357 (GRCm39) |
D66V |
probably benign |
Het |
Agrn |
G |
A |
4: 156,259,560 (GRCm39) |
P792S |
probably damaging |
Het |
Angptl2 |
A |
G |
2: 33,118,718 (GRCm39) |
N164S |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,967,434 (GRCm39) |
F4112L |
probably damaging |
Het |
C8b |
A |
G |
4: 104,650,530 (GRCm39) |
E446G |
possibly damaging |
Het |
Ceacam1 |
C |
T |
7: 25,174,167 (GRCm39) |
V163I |
probably damaging |
Het |
Cngb1 |
T |
C |
8: 95,978,534 (GRCm39) |
K1068R |
probably damaging |
Het |
Gna11 |
A |
G |
10: 81,366,643 (GRCm39) |
Y356H |
probably benign |
Het |
Gnl2 |
A |
G |
4: 124,934,823 (GRCm39) |
M160V |
probably benign |
Het |
Gpsm1 |
A |
G |
2: 26,230,546 (GRCm39) |
|
probably null |
Het |
Grep1 |
C |
A |
17: 23,931,332 (GRCm39) |
G192W |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Kif20a |
G |
T |
18: 34,763,580 (GRCm39) |
R609L |
probably benign |
Het |
Muc17 |
T |
A |
5: 137,175,485 (GRCm39) |
I62L |
probably benign |
Het |
Myorg |
G |
A |
4: 41,497,830 (GRCm39) |
A600V |
probably benign |
Het |
Ncor2 |
C |
T |
5: 125,146,048 (GRCm39) |
D526N |
unknown |
Het |
Nodal |
G |
T |
10: 61,259,446 (GRCm39) |
E294D |
probably damaging |
Het |
Nup214 |
T |
C |
2: 31,869,790 (GRCm39) |
V161A |
possibly damaging |
Het |
Or10a48 |
C |
T |
7: 108,424,921 (GRCm39) |
G95D |
probably benign |
Het |
Or5k1b |
G |
T |
16: 58,580,725 (GRCm39) |
D271E |
probably damaging |
Het |
Or5m11b |
G |
A |
2: 85,806,535 (GRCm39) |
R316H |
probably benign |
Het |
Pclo |
A |
T |
5: 14,590,669 (GRCm39) |
T990S |
unknown |
Het |
Piwil2 |
A |
T |
14: 70,628,013 (GRCm39) |
M752K |
probably benign |
Het |
Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,411,333 (GRCm39) |
M805K |
probably damaging |
Het |
Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
Ralbp1 |
A |
G |
17: 66,171,274 (GRCm39) |
V233A |
probably benign |
Het |
Scin |
C |
T |
12: 40,127,537 (GRCm39) |
E418K |
probably benign |
Het |
Scn7a |
T |
A |
2: 66,506,057 (GRCm39) |
I1611F |
probably damaging |
Het |
Slit2 |
A |
T |
5: 48,142,506 (GRCm39) |
H42L |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,537,375 (GRCm39) |
V4259D |
probably damaging |
Het |
Trhde |
T |
A |
10: 114,403,039 (GRCm39) |
Y528F |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,675,168 (GRCm39) |
E107G |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,948,572 (GRCm39) |
T463A |
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 |
IGL00708:Meis2
|
APN |
2 |
115,694,725 (GRCm39) |
missense |
probably benign |
0.11 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATTGTCTCGATGAGCCCGTC -3'
(R):5'- TTCTCAGGGTGGTCCAATGG -3'
Sequencing Primer
(F):5'- AATCACAGCTGTCTGGAGTTTC -3'
(R):5'- TCCAATGGGAATGGGTATGGCC -3'
|
Posted On |
2017-03-31 |