Incidental Mutation 'R5506:Meis1'
ID |
430932 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meis1
|
Ensembl Gene |
ENSMUSG00000020160 |
Gene Name |
Meis homeobox 1 |
Synonyms |
C530044H18Rik |
MMRRC Submission |
043067-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5506 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
18830428-18968992 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 18891747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 267
(D267A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135726
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068264]
[ENSMUST00000102878]
[ENSMUST00000144988]
[ENSMUST00000177417]
[ENSMUST00000185131]
|
AlphaFold |
Q60954 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068264
AA Change: D267A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000069277 Gene: ENSMUSG00000020160 AA Change: D267A
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
AA Change: D267A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000099942 Gene: ENSMUSG00000020160 AA Change: D267A
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 |
possibly damaging
Transcript: ENSMUST00000144988
AA Change: D267A
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134969 Gene: ENSMUSG00000020160 AA Change: D267A
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 |
possibly damaging
Transcript: ENSMUST00000177417
AA Change: D267A
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135726 Gene: ENSMUSG00000020160 AA Change: D267A
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: D267A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139219 Gene: ENSMUSG00000020160 AA Change: D267A
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 |
|
Meta Mutation Damage Score |
0.0727 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
Validation Efficiency |
100% (53/53) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,773,708 (GRCm39) |
G966W |
probably damaging |
Het |
A930009A15Rik |
G |
T |
10: 115,414,267 (GRCm39) |
|
probably null |
Het |
Cant1 |
G |
T |
11: 118,302,268 (GRCm39) |
H16Q |
probably benign |
Het |
Capn3 |
G |
T |
2: 120,332,901 (GRCm39) |
V612F |
probably damaging |
Het |
Cep112 |
A |
T |
11: 108,555,429 (GRCm39) |
E141D |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,438,564 (GRCm39) |
V173A |
probably benign |
Het |
CN725425 |
A |
G |
15: 91,120,029 (GRCm39) |
D50G |
possibly damaging |
Het |
Cubn |
A |
T |
2: 13,496,506 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dpp8 |
A |
G |
9: 64,985,391 (GRCm39) |
|
probably null |
Het |
Ecm1 |
G |
A |
3: 95,643,169 (GRCm39) |
T377I |
probably benign |
Het |
Exosc8 |
A |
G |
3: 54,638,600 (GRCm39) |
|
probably benign |
Het |
Fasn |
C |
T |
11: 120,700,336 (GRCm39) |
D2165N |
probably benign |
Het |
Gab2 |
A |
G |
7: 96,952,320 (GRCm39) |
E571G |
probably damaging |
Het |
Galnt5 |
C |
A |
2: 57,889,637 (GRCm39) |
H412Q |
probably benign |
Het |
Galr1 |
T |
A |
18: 82,423,989 (GRCm39) |
Y96F |
possibly damaging |
Het |
Garin1b |
G |
A |
6: 29,319,297 (GRCm39) |
E34K |
probably damaging |
Het |
Gnl2 |
C |
A |
4: 124,949,158 (GRCm39) |
|
probably benign |
Het |
H2ac22 |
A |
C |
13: 21,971,081 (GRCm39) |
I103S |
probably damaging |
Het |
H2ax |
T |
C |
9: 44,246,402 (GRCm39) |
V115A |
probably benign |
Het |
Heatr9 |
T |
C |
11: 83,405,592 (GRCm39) |
N317S |
possibly damaging |
Het |
Kndc1 |
A |
G |
7: 139,507,804 (GRCm39) |
Y1254C |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,436,259 (GRCm39) |
D1302E |
probably benign |
Het |
Mc2r |
A |
T |
18: 68,541,019 (GRCm39) |
Y91* |
probably null |
Het |
Mki67 |
T |
C |
7: 135,301,710 (GRCm39) |
K1108R |
possibly damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Myh3 |
T |
G |
11: 66,974,915 (GRCm39) |
D219E |
probably damaging |
Het |
Niban2 |
G |
A |
2: 32,810,994 (GRCm39) |
V335M |
probably damaging |
Het |
Or10g1b |
T |
C |
14: 52,628,084 (GRCm39) |
I49V |
probably damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,570 (GRCm39) |
L149P |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,111,817 (GRCm39) |
C1553R |
probably damaging |
Het |
Plekhb1 |
C |
A |
7: 100,294,150 (GRCm39) |
|
probably null |
Het |
Polr3d |
A |
T |
14: 70,678,199 (GRCm39) |
D165E |
possibly damaging |
Het |
Prb1c |
T |
C |
6: 132,338,819 (GRCm39) |
N133S |
unknown |
Het |
Psmb1 |
A |
G |
17: 15,710,478 (GRCm39) |
Y24H |
probably damaging |
Het |
Rab11fip5 |
A |
G |
6: 85,351,119 (GRCm39) |
L131P |
probably damaging |
Het |
Raph1 |
A |
T |
1: 60,532,657 (GRCm39) |
|
probably benign |
Het |
Rmc1 |
A |
G |
18: 12,322,013 (GRCm39) |
|
probably benign |
Het |
Scgb2b27 |
T |
G |
7: 33,711,484 (GRCm39) |
|
probably benign |
Het |
Serpina10 |
T |
C |
12: 103,592,920 (GRCm39) |
D264G |
probably damaging |
Het |
Sftpb |
A |
G |
6: 72,281,651 (GRCm39) |
T15A |
possibly damaging |
Het |
Slc20a1 |
T |
C |
2: 129,052,739 (GRCm39) |
F674L |
probably benign |
Het |
Syne2 |
A |
T |
12: 75,985,495 (GRCm39) |
N1648Y |
probably benign |
Het |
Thsd7a |
G |
T |
6: 12,332,016 (GRCm39) |
N1265K |
possibly damaging |
Het |
Trem2 |
T |
C |
17: 48,658,802 (GRCm39) |
L189P |
probably benign |
Het |
Washc4 |
A |
T |
10: 83,417,201 (GRCm39) |
R865S |
probably damaging |
Het |
Zfp536 |
A |
G |
7: 37,268,217 (GRCm39) |
S400P |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAGTGATGTAGGAAGCGC -3'
(R):5'- GATGGATATTTCCCTCCAGTCC -3'
Sequencing Primer
(F):5'- TGTAGGAAGCGCAGAGGGATC -3'
(R):5'- AGTTGAGACCTTGTTCTTTCTCTTTG -3'
|
Posted On |
2016-10-05 |