Incidental Mutation 'R9410:Meis1'
| ID |
711759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meis1
|
| Ensembl Gene |
ENSMUSG00000020160 |
| Gene Name |
Meis homeobox 1 |
| Synonyms |
C530044H18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9410 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
18830428-18968992 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 18833987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068264]
[ENSMUST00000102878]
[ENSMUST00000144988]
[ENSMUST00000177417]
[ENSMUST00000185131]
|
| AlphaFold |
Q60954 |
| Predicted Effect |
probably null
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 |
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
|
| SMART Domains |
Protein: ENSMUSP00000139219
Gene: ENSMUSG00000020160
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,869,703 (GRCm39) |
S772L |
probably benign |
Het |
| Ampd2 |
A |
T |
3: 107,982,590 (GRCm39) |
V722E |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,106,067 (GRCm39) |
F83Y |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| B020004C17Rik |
A |
T |
14: 57,254,273 (GRCm39) |
Y132F |
possibly damaging |
Het |
| Cnr1 |
A |
G |
4: 33,944,973 (GRCm39) |
T454A |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Ctla4 |
A |
T |
1: 60,951,911 (GRCm39) |
T147S |
probably damaging |
Het |
| Ctsa |
T |
C |
2: 164,677,101 (GRCm39) |
L152P |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,862,293 (GRCm39) |
T225A |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,464,590 (GRCm39) |
I362F |
possibly damaging |
Het |
| Dzank1 |
C |
T |
2: 144,324,050 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
A |
T |
4: 136,386,948 (GRCm39) |
C760S |
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,706,989 (GRCm39) |
V512E |
probably benign |
Het |
| Faiml |
C |
A |
9: 99,111,587 (GRCm39) |
K157N |
probably benign |
Het |
| Fpr2 |
C |
T |
17: 18,113,604 (GRCm39) |
T200I |
probably benign |
Het |
| Fscn3 |
C |
T |
6: 28,430,432 (GRCm39) |
R201* |
probably null |
Het |
| Hcrtr1 |
A |
T |
4: 130,029,514 (GRCm39) |
L189Q |
probably damaging |
Het |
| Igkv4-62 |
T |
C |
6: 69,376,832 (GRCm39) |
T84A |
probably benign |
Het |
| Krtap2-4 |
C |
A |
11: 99,505,437 (GRCm39) |
R58L |
possibly damaging |
Het |
| Mfsd2b |
T |
A |
12: 4,915,747 (GRCm39) |
I422F |
probably damaging |
Het |
| Mre11a |
G |
A |
9: 14,716,716 (GRCm39) |
V304M |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,023,496 (GRCm39) |
E19G |
probably damaging |
Het |
| Ndufa10 |
A |
T |
1: 92,367,614 (GRCm39) |
Y339N |
probably damaging |
Het |
| Odad1 |
T |
C |
7: 45,597,821 (GRCm39) |
V577A |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Pcdh15 |
CAGAGA |
CAGA |
10: 74,481,663 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
G |
A |
3: 49,699,615 (GRCm39) |
P949L |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,413,995 (GRCm39) |
V210A |
probably benign |
Het |
| Rnf150 |
T |
C |
8: 83,762,722 (GRCm39) |
M319T |
possibly damaging |
Het |
| Rnf180 |
CGAGG |
CGAGGAGG |
13: 105,386,781 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
G |
A |
7: 45,071,618 (GRCm39) |
Q422* |
probably null |
Het |
| Shroom1 |
C |
T |
11: 53,354,217 (GRCm39) |
R46C |
probably damaging |
Het |
| Slc22a2 |
T |
C |
17: 12,805,732 (GRCm39) |
F161S |
probably damaging |
Het |
| Src |
T |
A |
2: 157,311,676 (GRCm39) |
M468K |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,297,601 (GRCm39) |
F606L |
possibly damaging |
Het |
| Stau1 |
T |
C |
2: 166,797,038 (GRCm39) |
T120A |
probably benign |
Het |
| Sulf2 |
A |
C |
2: 165,936,444 (GRCm39) |
L174R |
|
Het |
| Sumf1 |
A |
C |
6: 108,150,363 (GRCm39) |
F156C |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,032,396 (GRCm39) |
D708V |
probably damaging |
Het |
| Tmprss12 |
A |
C |
15: 100,190,622 (GRCm39) |
I331L |
possibly damaging |
Het |
| Tnfrsf10b |
T |
G |
14: 70,010,849 (GRCm39) |
C85G |
probably damaging |
Het |
| Trav10d |
C |
A |
14: 53,048,845 (GRCm39) |
Q79K |
probably benign |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,756 (GRCm39) |
Y291* |
probably null |
Het |
| Vmn2r115 |
T |
C |
17: 23,578,915 (GRCm39) |
I796T |
possibly damaging |
Het |
| Zfp189 |
T |
A |
4: 49,529,942 (GRCm39) |
H348Q |
possibly damaging |
Het |
| Zfp563 |
T |
A |
17: 33,321,320 (GRCm39) |
L40Q |
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 |
|
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 |
|
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'- TGGTCAGTACTGTACAATAGCAAC -3'
(R):5'- AAGGGTCTTTTGGCACTATCTG -3'
Sequencing Primer
(F):5'- GTACTGTACAATAGCAACACACAGG -3'
(R):5'- GGCACTATCTGTTGACTTTGC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation