Incidental Mutation 'R7413:Meis1'
| ID |
575229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meis1
|
| Ensembl Gene |
ENSMUSG00000020160 |
| Gene Name |
Meis homeobox 1 |
| Synonyms |
C530044H18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
18830428-18968992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18938357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 218
(D218V)
|
| 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
AA Change: D218V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000069277
Gene: ENSMUSG00000020160
AA Change: D218V
| 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 damaging
Transcript: ENSMUST00000102878
AA Change: D218V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099942
Gene: ENSMUSG00000020160
AA Change: D218V
| 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 |
probably damaging
Transcript: ENSMUST00000144988
AA Change: D218V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134969
Gene: ENSMUSG00000020160
AA Change: D218V
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177417
AA Change: D218V
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135726
Gene: ENSMUSG00000020160
AA Change: D218V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
225 |
241 |
N/A |
INTRINSIC |
|
HOX
|
272 |
337 |
1.05e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185131
AA Change: D218V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139219
Gene: ENSMUSG00000020160
AA Change: D218V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,895,524 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
A |
T |
4: 111,514,495 (GRCm39) |
D502V |
probably benign |
Het |
| Akap5 |
T |
A |
12: 76,375,678 (GRCm39) |
V370E |
possibly damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,288 (GRCm39) |
C1844R |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,831,542 (GRCm39) |
K1191E |
probably benign |
Het |
| Bsn |
C |
T |
9: 108,016,690 (GRCm39) |
R107Q |
possibly damaging |
Het |
| Catsperb |
G |
T |
12: 101,447,307 (GRCm39) |
R269L |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,804 (GRCm39) |
S156P |
unknown |
Het |
| Cdh16 |
C |
T |
8: 105,346,572 (GRCm39) |
A241T |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,172,972 (GRCm39) |
S1367P |
probably damaging |
Het |
| Cds2 |
C |
T |
2: 132,135,235 (GRCm39) |
P42L |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,245,431 (GRCm39) |
Y61H |
possibly damaging |
Het |
| Dclre1a |
G |
A |
19: 56,531,082 (GRCm39) |
P755S |
probably damaging |
Het |
| Ddi1 |
A |
T |
9: 6,265,670 (GRCm39) |
M233K |
probably damaging |
Het |
| Dpp4 |
T |
C |
2: 62,187,333 (GRCm39) |
Y474C |
probably damaging |
Het |
| Epha7 |
T |
A |
4: 28,871,838 (GRCm39) |
M389K |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,033,457 (GRCm39) |
F181S |
probably damaging |
Het |
| Epor |
G |
A |
9: 21,874,776 (GRCm39) |
|
probably benign |
Het |
| Fbp2 |
C |
A |
13: 62,985,067 (GRCm39) |
V285L |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,452,258 (GRCm39) |
D1694V |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,882,339 (GRCm39) |
M98K |
probably benign |
Het |
| Gcm2 |
A |
G |
13: 41,259,230 (GRCm39) |
S80P |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,254,735 (GRCm39) |
S247P |
probably benign |
Het |
| Gne |
T |
C |
4: 44,044,857 (GRCm39) |
N426D |
probably benign |
Het |
| Ifne |
A |
T |
4: 88,797,840 (GRCm39) |
*193R |
probably null |
Het |
| Igf2r |
G |
T |
17: 12,917,115 (GRCm39) |
S1595* |
probably null |
Het |
| Krt26 |
C |
T |
11: 99,225,887 (GRCm39) |
M226I |
probably benign |
Het |
| Lars2 |
G |
A |
9: 123,288,568 (GRCm39) |
V805I |
probably benign |
Het |
| Lrrc57 |
C |
A |
2: 120,436,577 (GRCm39) |
R177L |
probably damaging |
Het |
| Lrrn1 |
A |
G |
6: 107,546,083 (GRCm39) |
E627G |
probably benign |
Het |
| Magel2 |
CCCTCCTCCTCCTCCTCCTCCT |
CCCTCCTCCTCCTCCTCCT |
7: 62,027,592 (GRCm39) |
|
probably benign |
Het |
| Mdga1 |
A |
T |
17: 30,069,647 (GRCm39) |
V133E |
probably damaging |
Het |
| Med12l |
A |
G |
3: 58,998,971 (GRCm39) |
T644A |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,768,970 (GRCm39) |
E1439G |
|
Het |
| Naa12 |
T |
C |
18: 80,254,874 (GRCm39) |
V56A |
possibly damaging |
Het |
| Nckipsd |
G |
A |
9: 108,691,280 (GRCm39) |
V401I |
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,092,669 (GRCm39) |
I655V |
probably damaging |
Het |
| Oprm1 |
A |
T |
10: 6,778,919 (GRCm39) |
I107F |
probably damaging |
Het |
| Or4k42 |
A |
C |
2: 111,319,933 (GRCm39) |
I190R |
probably benign |
Het |
| Or52n3 |
A |
T |
7: 104,530,057 (GRCm39) |
I48F |
probably benign |
Het |
| Or5p51 |
T |
C |
7: 107,444,721 (GRCm39) |
D73G |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 96,945,704 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
T |
G |
3: 49,699,232 (GRCm39) |
S1077R |
possibly damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,975 (GRCm39) |
K312* |
probably null |
Het |
| Plekhh2 |
A |
T |
17: 84,873,724 (GRCm39) |
E336D |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,165,076 (GRCm39) |
S49T |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,052,927 (GRCm39) |
I1035V |
probably benign |
Het |
| Rlf |
C |
T |
4: 121,007,297 (GRCm39) |
G671D |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,128 (GRCm39) |
|
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,607,404 (GRCm39) |
Q275R |
probably benign |
Het |
| Slc10a1 |
G |
T |
12: 81,007,396 (GRCm39) |
F128L |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,357 (GRCm39) |
Y451* |
probably null |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Stambpl1 |
G |
C |
19: 34,204,116 (GRCm39) |
G69R |
probably damaging |
Het |
| Surf4 |
G |
T |
2: 26,814,455 (GRCm39) |
R149S |
probably benign |
Het |
| Tmem151a |
T |
C |
19: 5,132,702 (GRCm39) |
Y168C |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,861,746 (GRCm39) |
K416R |
possibly damaging |
Het |
| Tut4 |
T |
C |
4: 108,406,533 (GRCm39) |
I1367T |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,932,309 (GRCm39) |
I472T |
probably damaging |
Het |
| Vmn1r212 |
A |
C |
13: 23,067,718 (GRCm39) |
L205R |
probably damaging |
Het |
| Wscd2 |
T |
C |
5: 113,715,402 (GRCm39) |
I414T |
probably benign |
Het |
| Zfp1005 |
A |
C |
2: 150,108,081 (GRCm39) |
T14P |
possibly damaging |
Het |
|
| Other mutations in Meis1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01927:Meis1
|
APN |
11 |
18,831,811 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTATGCTGTCAGAGAAGCTCTATG -3'
(R):5'- ATCTGGGAGCTGAAATTGGC -3'
Sequencing Primer
(F):5'- AGAACACCTCTCCTACCTTG -3'
(R):5'- GGAGCTGAAATTGGCAGTTTTTCAAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation