Incidental Mutation 'R2342:Meis1'
| ID |
246791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meis1
|
| Ensembl Gene |
ENSMUSG00000020160 |
| Gene Name |
Meis homeobox 1 |
| Synonyms |
C530044H18Rik |
| MMRRC Submission |
040328-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2342 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
18830428-18968992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18831647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 464
(A464T)
|
| 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 damaging
Transcript: ENSMUST00000185131
AA Change: A464T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139219
Gene: ENSMUSG00000020160
AA Change: A464T
| 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
|
| Meta Mutation Damage Score |
0.1288 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
C |
T |
13: 98,130,537 (GRCm39) |
E434K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,515 (GRCm39) |
M236K |
probably benign |
Het |
| Camk1 |
T |
C |
6: 113,318,942 (GRCm39) |
|
probably benign |
Het |
| Chd8 |
A |
C |
14: 52,442,674 (GRCm39) |
N625K |
probably benign |
Het |
| Dcaf8 |
A |
G |
1: 172,013,928 (GRCm39) |
H373R |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,802,896 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
C |
T |
4: 141,050,842 (GRCm39) |
A866V |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,930,592 (GRCm39) |
Y237* |
probably null |
Het |
| Glg1 |
A |
T |
8: 111,914,439 (GRCm39) |
C448* |
probably null |
Het |
| Gm4787 |
G |
T |
12: 81,425,532 (GRCm39) |
R209S |
possibly damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,284,721 (GRCm39) |
L358P |
probably damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,063 (GRCm39) |
T315I |
possibly damaging |
Het |
| Irak2 |
C |
A |
6: 113,670,632 (GRCm39) |
T539K |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,809,208 (GRCm39) |
G2568C |
possibly damaging |
Het |
| Or10g1b |
C |
A |
14: 52,627,322 (GRCm39) |
A303S |
possibly damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,116 (GRCm39) |
D317G |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,817,152 (GRCm39) |
S179P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,691 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,204,049 (GRCm39) |
V174D |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,574,652 (GRCm39) |
K648E |
possibly damaging |
Het |
| Rtf1 |
A |
G |
2: 119,542,598 (GRCm39) |
T301A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,747,207 (GRCm39) |
V528A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,540 (GRCm39) |
V308A |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,354,680 (GRCm39) |
V335A |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 113,034,180 (GRCm39) |
T316S |
probably benign |
Het |
| Tbl2 |
G |
A |
5: 135,187,607 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,353,599 (GRCm39) |
K1469E |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,501,316 (GRCm39) |
Y92H |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,923 (GRCm39) |
E80G |
probably damaging |
Het |
| Zbtb10 |
C |
T |
3: 9,330,255 (GRCm39) |
P538S |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,804,113 (GRCm39) |
H454Y |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGACTTCGGATGGTTCTCC -3'
(R):5'- CCAATGGGTGTGAGTATGGGAC -3'
Sequencing Primer
(F):5'- CCTGCATTTTAAGAGTCCCTATGAAG -3'
(R):5'- TGGGACAGCCGAGTTATACC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation