Incidental Mutation 'IGL01927:Meis1'
| ID |
180334 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Meis1
|
| Ensembl Gene |
ENSMUSG00000020160 |
| Gene Name |
Meis homeobox 1 |
| Synonyms |
C530044H18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01927
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
18830428-18968992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18831811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 409
(R409H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068264]
[ENSMUST00000102878]
[ENSMUST00000144988]
[ENSMUST00000177417]
[ENSMUST00000185131]
|
| AlphaFold |
Q60954 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068264
|
| SMART Domains |
Protein: ENSMUSP00000069277
Gene: ENSMUSG00000020160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
225 |
241 |
N/A |
INTRINSIC |
|
HOX
|
272 |
337 |
1.05e-11 |
SMART |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102878
|
| SMART Domains |
Protein: ENSMUSP00000099942
Gene: ENSMUSG00000020160
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
12 |
59 |
8.66e-5 |
PROSPERO |
|
Pfam:Meis_PKNOX_N
|
108 |
192 |
5.5e-48 |
PFAM |
|
low complexity region
|
225 |
241 |
N/A |
INTRINSIC |
|
HOX
|
272 |
337 |
1.05e-11 |
SMART |
|
internal_repeat_1
|
384 |
428 |
8.66e-5 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118661
|
| SMART Domains |
Protein: ENSMUSP00000112809
Gene: ENSMUSG00000020160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
|
HOX
|
92 |
157 |
5.3e-14 |
SMART |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144988
|
| SMART Domains |
Protein: ENSMUSP00000134969
Gene: ENSMUSG00000020160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
225 |
241 |
N/A |
INTRINSIC |
|
HOX
|
272 |
337 |
1.05e-11 |
SMART |
|
low complexity region
|
358 |
369 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177417
|
| SMART Domains |
Protein: ENSMUSP00000135726
Gene: ENSMUSG00000020160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
225 |
241 |
N/A |
INTRINSIC |
|
HOX
|
272 |
337 |
1.05e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185131
AA Change: R409H
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139219
Gene: ENSMUSG00000020160
AA Change: R409H
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
12 |
59 |
8.66e-5 |
PROSPERO |
|
low complexity region
|
225 |
241 |
N/A |
INTRINSIC |
|
HOX
|
272 |
337 |
1.05e-11 |
SMART |
|
internal_repeat_1
|
384 |
428 |
8.66e-5 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194952
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die during gestation and exhibit eye, vasculature, and hematopoietic defects. Mice homozygous for a conditional allele activated in HSCs exhibit altered bone marrow cell development, altered HSC physiology and increased reactive oxygen species production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
A |
G |
2: 35,266,026 (GRCm39) |
Y215H |
probably damaging |
Het |
| Acsm2 |
T |
C |
7: 119,177,435 (GRCm39) |
F317L |
possibly damaging |
Het |
| Akr1d1 |
A |
G |
6: 37,541,394 (GRCm39) |
D297G |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,150,231 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
T |
C |
2: 126,164,896 (GRCm39) |
Y1140C |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,789,109 (GRCm39) |
S105T |
probably benign |
Het |
| Cspg5 |
A |
T |
9: 110,091,152 (GRCm39) |
I414F |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,526,127 (GRCm39) |
M354V |
probably benign |
Het |
| Ereg |
T |
A |
5: 91,234,671 (GRCm39) |
V28E |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Ift81 |
G |
A |
5: 122,731,192 (GRCm39) |
T321M |
probably benign |
Het |
| Kcnip2 |
T |
A |
19: 45,784,044 (GRCm39) |
Q95L |
probably damaging |
Het |
| Opa1 |
T |
C |
16: 29,405,813 (GRCm39) |
I126T |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,106,477 (GRCm39) |
Y295H |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,640,848 (GRCm39) |
V1005E |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,246,694 (GRCm39) |
|
probably benign |
Het |
| Rptor |
T |
A |
11: 119,548,500 (GRCm39) |
V58E |
probably damaging |
Het |
| Togaram1 |
C |
T |
12: 65,023,476 (GRCm39) |
A687V |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,105 (GRCm39) |
F15L |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r82 |
T |
C |
10: 79,213,906 (GRCm39) |
L164P |
probably damaging |
Het |
| Zfp623 |
T |
A |
15: 75,819,354 (GRCm39) |
N103K |
possibly damaging |
Het |
|
| Other mutations in Meis1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02156:Meis1
|
APN |
11 |
18,961,292 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02376:Meis1
|
APN |
11 |
18,831,752 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0505:Meis1
|
UTSW |
11 |
18,961,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0833:Meis1
|
UTSW |
11 |
18,831,767 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1477:Meis1
|
UTSW |
11 |
18,831,665 (GRCm39) |
nonsense |
probably null |
|
|
R1512:Meis1
|
UTSW |
11 |
18,831,682 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1643:Meis1
|
UTSW |
11 |
18,966,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1717:Meis1
|
UTSW |
11 |
18,960,608 (GRCm39) |
intron |
probably benign |
|
|
R2117:Meis1
|
UTSW |
11 |
18,831,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2342:Meis1
|
UTSW |
11 |
18,831,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2426:Meis1
|
UTSW |
11 |
18,938,356 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3076:Meis1
|
UTSW |
11 |
18,961,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3078:Meis1
|
UTSW |
11 |
18,961,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4368:Meis1
|
UTSW |
11 |
18,960,656 (GRCm39) |
intron |
probably benign |
|
|
R4915:Meis1
|
UTSW |
11 |
18,959,222 (GRCm39) |
intron |
probably benign |
|
|
R4916:Meis1
|
UTSW |
11 |
18,831,776 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4917:Meis1
|
UTSW |
11 |
18,959,222 (GRCm39) |
intron |
probably benign |
|
|
R4918:Meis1
|
UTSW |
11 |
18,959,222 (GRCm39) |
intron |
probably benign |
|
|
R4948:Meis1
|
UTSW |
11 |
18,966,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5093:Meis1
|
UTSW |
11 |
18,831,785 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5506:Meis1
|
UTSW |
11 |
18,891,747 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5507:Meis1
|
UTSW |
11 |
18,966,168 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5521:Meis1
|
UTSW |
11 |
18,938,260 (GRCm39) |
splice site |
probably benign |
|
|
R5673:Meis1
|
UTSW |
11 |
18,962,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Meis1
|
UTSW |
11 |
18,966,229 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6347:Meis1
|
UTSW |
11 |
18,855,631 (GRCm39) |
splice site |
probably null |
|
|
R6354:Meis1
|
UTSW |
11 |
18,966,184 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6383:Meis1
|
UTSW |
11 |
18,891,741 (GRCm39) |
missense |
probably benign |
|
|
R6624:Meis1
|
UTSW |
11 |
18,966,215 (GRCm39) |
missense |
probably benign |
|
|
R7292:Meis1
|
UTSW |
11 |
18,961,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Meis1
|
UTSW |
11 |
18,938,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7434:Meis1
|
UTSW |
11 |
18,835,542 (GRCm39) |
missense |
unknown |
|
|
R7571:Meis1
|
UTSW |
11 |
18,891,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Meis1
|
UTSW |
11 |
18,835,587 (GRCm39) |
missense |
probably benign |
|
|
R9013:Meis1
|
UTSW |
11 |
18,966,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9043:Meis1
|
UTSW |
11 |
18,831,916 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9410:Meis1
|
UTSW |
11 |
18,833,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9571:Meis1
|
UTSW |
11 |
18,961,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Meis1
|
UTSW |
11 |
18,964,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation