Incidental Mutation 'R3078:Meis1'
| ID |
265298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meis1
|
| Ensembl Gene |
ENSMUSG00000020160 |
| Gene Name |
Meis homeobox 1 |
| Synonyms |
C530044H18Rik |
| MMRRC Submission |
040568-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
18830428-18968992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18961254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 206
(N206K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068264]
[ENSMUST00000102878]
[ENSMUST00000144988]
[ENSMUST00000177417]
[ENSMUST00000185131]
|
| AlphaFold |
Q60954 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068264
AA Change: N206K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000069277
Gene: ENSMUSG00000020160
AA Change: N206K
| 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: N206K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099942
Gene: ENSMUSG00000020160
AA Change: N206K
| 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: ENSMUST00000117191
|
| SMART Domains |
Protein: ENSMUSP00000113121
Gene: ENSMUSG00000084085
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000125722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144988
AA Change: N206K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134969
Gene: ENSMUSG00000020160
AA Change: N206K
| 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: ENSMUST00000177417
AA Change: N206K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135726
Gene: ENSMUSG00000020160
AA Change: N206K
| 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: N206K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000139219
Gene: ENSMUSG00000020160
AA Change: N206K
| 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 |
unknown
Transcript: ENSMUST00000177357
AA Change: N178K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193315
|
| Meta Mutation Damage Score |
0.0631 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
93% (42/45) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
| Actr3b |
A |
G |
5: 26,027,440 (GRCm39) |
Y37C |
probably damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Alg10b |
T |
C |
15: 90,112,139 (GRCm39) |
S328P |
probably benign |
Het |
| C5ar2 |
G |
A |
7: 15,971,349 (GRCm39) |
R193C |
probably damaging |
Het |
| Cct8 |
A |
G |
16: 87,285,765 (GRCm39) |
V231A |
possibly damaging |
Het |
| Clca4a |
C |
T |
3: 144,674,014 (GRCm39) |
M240I |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,185,435 (GRCm39) |
I3520N |
probably damaging |
Het |
| Dock6 |
G |
T |
9: 21,757,050 (GRCm39) |
|
probably benign |
Het |
| Dynlrb1 |
T |
A |
2: 155,091,865 (GRCm39) |
I99N |
probably damaging |
Het |
| Ebf4 |
G |
A |
2: 130,148,419 (GRCm39) |
D77N |
probably damaging |
Het |
| Fbxw10 |
C |
T |
11: 62,758,339 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
T |
C |
2: 98,494,197 (GRCm39) |
I113T |
probably damaging |
Het |
| Gm5499 |
T |
C |
17: 87,386,314 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9913 |
A |
G |
2: 125,348,459 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,786,991 (GRCm39) |
N1612S |
probably benign |
Het |
| Ifnar2 |
T |
C |
16: 91,182,889 (GRCm39) |
S53P |
possibly damaging |
Het |
| Inpp5j |
T |
A |
11: 3,453,124 (GRCm39) |
|
probably null |
Het |
| Insyn2a |
A |
G |
7: 134,519,750 (GRCm39) |
I260T |
probably benign |
Het |
| Iqca1l |
G |
C |
5: 24,751,664 (GRCm39) |
T528S |
probably benign |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Med28 |
A |
G |
5: 45,679,820 (GRCm39) |
T68A |
possibly damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,441,566 (GRCm39) |
|
probably benign |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,365,310 (GRCm39) |
Y413C |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,100,237 (GRCm39) |
D1599G |
probably benign |
Het |
| Myoz1 |
T |
C |
14: 20,703,685 (GRCm39) |
|
probably benign |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,182 (GRCm39) |
Y306N |
probably damaging |
Het |
| Nrxn3 |
T |
G |
12: 89,227,186 (GRCm39) |
C274G |
probably damaging |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or5ac22 |
A |
T |
16: 59,135,089 (GRCm39) |
M227K |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,645,373 (GRCm39) |
T403A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,458,042 (GRCm39) |
I643V |
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,344,895 (GRCm39) |
L167P |
possibly damaging |
Het |
| Stau1 |
T |
C |
2: 166,796,936 (GRCm39) |
I154V |
possibly damaging |
Het |
| Ugcg |
T |
G |
4: 59,213,922 (GRCm39) |
V168G |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,042,053 (GRCm39) |
I221V |
probably benign |
Het |
| Wdr93 |
T |
C |
7: 79,402,241 (GRCm39) |
I180T |
possibly damaging |
Het |
| Whamm |
G |
C |
7: 81,221,532 (GRCm39) |
G155R |
probably damaging |
Het |
| Wnt5a |
T |
A |
14: 28,235,140 (GRCm39) |
Y41* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGAGCCAGCCTTAATGAAGC -3'
(R):5'- GGACTGCACTTGTCAATGTCG -3'
Sequencing Primer
(F):5'- GCCAGCCTTAATGAAGCAATAATAG -3'
(R):5'- ACTGCACTTGTCAATGTCGTTTATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation