Incidental Mutation 'R7919:Meis2'
| ID |
648218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meis2
|
| Ensembl Gene |
ENSMUSG00000027210 |
| Gene Name |
Meis homeobox 2 |
| Synonyms |
Mrg1, Meis2, A430109D20Rik, Stra10 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.854)
|
| Stock # |
R7919 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
115693545-115896320 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115697788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 370
(V370A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028639]
[ENSMUST00000074285]
[ENSMUST00000102538]
[ENSMUST00000110906]
[ENSMUST00000110907]
[ENSMUST00000110908]
|
| AlphaFold |
P97367 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028639
AA Change: V370A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000028639
Gene: ENSMUSG00000027210
AA Change: V370A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meis_PKNOX_N
|
110 |
194 |
3.8e-48 |
PFAM |
|
HOX
|
276 |
341 |
4.27e-12 |
SMART |
|
low complexity region
|
395 |
402 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074285
AA Change: V362A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000073898
Gene: ENSMUSG00000027210
AA Change: V362A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
275 |
340 |
4.27e-12 |
SMART |
|
low complexity region
|
375 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102538
AA Change: V363A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099597
Gene: ENSMUSG00000027210
AA Change: V363A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
276 |
341 |
4.27e-12 |
SMART |
|
low complexity region
|
388 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110906
AA Change: V369A
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106531
Gene: ENSMUSG00000027210
AA Change: V369A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
275 |
340 |
4.27e-12 |
SMART |
|
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110907
AA Change: V370A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000106532
Gene: ENSMUSG00000027210
AA Change: V370A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
276 |
341 |
4.27e-12 |
SMART |
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110908
AA Change: V363A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000106533
Gene: ENSMUSG00000027210
AA Change: V363A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
276 |
341 |
4.27e-12 |
SMART |
|
low complexity region
|
376 |
389 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcriptional regulators and several members have been shown to be essential contributors to developmental programs. In mice, a knock-out of this gene leads to lethality at embryonic day 14, accompanied with hemorrhaging. Embryos lacking this gene show defects in tissues derived from the neural crest, suggesting a critical role of this gene during cranial and cardiac neural crest cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele display early fetal lethality with hemorrhaging, persistent truncus arteriosis, absence of cardic valves and defects in other neural crest cell derived tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
G |
3: 137,885,311 (GRCm39) |
K95T |
probably damaging |
Het |
| 9430097D07Rik |
T |
C |
2: 32,464,461 (GRCm39) |
T113A |
unknown |
Het |
| Abcc2 |
T |
C |
19: 43,805,248 (GRCm39) |
Y701H |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 69,036,091 (GRCm39) |
H190L |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,838,431 (GRCm39) |
T623A |
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,290,906 (GRCm39) |
T462A |
probably benign |
Het |
| Calhm2 |
C |
T |
19: 47,121,447 (GRCm39) |
V241M |
possibly damaging |
Het |
| Cdc25c |
T |
C |
18: 34,868,429 (GRCm39) |
I314V |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,017,413 (GRCm39) |
D407N |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,350,742 (GRCm39) |
E2588G |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,229,990 (GRCm39) |
N178Y |
probably damaging |
Het |
| Eaf2 |
T |
A |
16: 36,630,914 (GRCm39) |
E86D |
probably damaging |
Het |
| Elf1 |
C |
A |
14: 79,798,339 (GRCm39) |
D75E |
probably benign |
Het |
| Fem1c |
T |
C |
18: 46,657,370 (GRCm39) |
T115A |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,936,611 (GRCm39) |
V186A |
probably benign |
Het |
| Gatb |
T |
A |
3: 85,511,828 (GRCm39) |
S194R |
probably damaging |
Het |
| Gm10775 |
T |
A |
13: 65,407,913 (GRCm39) |
N71K |
unknown |
Het |
| Gm19965 |
T |
A |
1: 116,749,850 (GRCm39) |
C510* |
probably null |
Het |
| Hydin |
A |
G |
8: 110,993,971 (GRCm39) |
T2A |
unknown |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
G |
A |
2: 136,930,366 (GRCm39) |
T726M |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,408,439 (GRCm39) |
D1306G |
probably damaging |
Het |
| Krt26 |
T |
A |
11: 99,224,420 (GRCm39) |
E366V |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,899,418 (GRCm39) |
E872G |
possibly damaging |
Het |
| Med6 |
G |
A |
12: 81,620,621 (GRCm39) |
R242* |
probably null |
Het |
| Mta2 |
C |
T |
19: 8,926,498 (GRCm39) |
R480* |
probably null |
Het |
| Mup3 |
A |
T |
4: 62,002,829 (GRCm39) |
N177K |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,417,356 (GRCm39) |
V3435E |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,390 (GRCm39) |
T880A |
probably benign |
Het |
| Obox1 |
A |
T |
7: 15,290,256 (GRCm39) |
K200* |
probably null |
Het |
| Or8j3 |
A |
T |
2: 86,028,609 (GRCm39) |
C162* |
probably null |
Het |
| Ovgp1 |
T |
A |
3: 105,888,601 (GRCm39) |
V319D |
probably damaging |
Het |
| Plxdc2 |
A |
T |
2: 16,553,036 (GRCm39) |
I145F |
probably damaging |
Het |
| Prr30 |
T |
C |
14: 101,436,547 (GRCm39) |
N5S |
possibly damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,880,438 (GRCm39) |
Y95C |
probably damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,020,297 (GRCm39) |
S44P |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,273,595 (GRCm39) |
E49G |
probably benign |
Het |
| Shroom1 |
A |
G |
11: 53,354,220 (GRCm39) |
T47A |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Stx1b |
A |
G |
7: 127,406,507 (GRCm39) |
S281P |
probably benign |
Het |
| Tg |
A |
T |
15: 66,555,923 (GRCm39) |
I872F |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,399 (GRCm39) |
A564T |
probably benign |
Het |
| Vsnl1 |
T |
C |
12: 11,382,087 (GRCm39) |
E98G |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,624,822 (GRCm39) |
L1857P |
|
Het |
| Wars1 |
C |
T |
12: 108,847,030 (GRCm39) |
E125K |
probably benign |
Het |
| Wnt16 |
G |
A |
6: 22,291,049 (GRCm39) |
S159N |
probably benign |
Het |
| Zcchc14 |
A |
G |
8: 122,330,912 (GRCm39) |
F817S |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,108 (GRCm39) |
S125P |
possibly damaging |
Het |
|
| Other mutations in Meis2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Meis2
|
APN |
2 |
115,699,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00708:Meis2
|
APN |
2 |
115,694,725 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01095:Meis2
|
APN |
2 |
115,694,905 (GRCm39) |
missense |
probably benign |
|
|
IGL02199:Meis2
|
APN |
2 |
115,830,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02562:Meis2
|
APN |
2 |
115,879,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Meis2
|
APN |
2 |
115,893,804 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03183:Meis2
|
APN |
2 |
115,890,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03205:Meis2
|
APN |
2 |
115,694,731 (GRCm39) |
missense |
probably benign |
0.08 |
|
P4748:Meis2
|
UTSW |
2 |
115,694,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0369:Meis2
|
UTSW |
2 |
115,893,897 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0410:Meis2
|
UTSW |
2 |
115,694,709 (GRCm39) |
makesense |
probably null |
|
|
R1465:Meis2
|
UTSW |
2 |
115,889,151 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1465:Meis2
|
UTSW |
2 |
115,889,151 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1548:Meis2
|
UTSW |
2 |
115,889,183 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1593:Meis2
|
UTSW |
2 |
115,830,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3835:Meis2
|
UTSW |
2 |
115,752,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Meis2
|
UTSW |
2 |
115,890,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4756:Meis2
|
UTSW |
2 |
115,830,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Meis2
|
UTSW |
2 |
115,694,893 (GRCm39) |
missense |
probably benign |
|
|
R5841:Meis2
|
UTSW |
2 |
115,889,145 (GRCm39) |
missense |
probably benign |
|
|
R5967:Meis2
|
UTSW |
2 |
115,694,790 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6661:Meis2
|
UTSW |
2 |
115,694,751 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6781:Meis2
|
UTSW |
2 |
115,879,636 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7239:Meis2
|
UTSW |
2 |
115,889,484 (GRCm39) |
splice site |
probably null |
|
|
R7606:Meis2
|
UTSW |
2 |
115,893,801 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8134:Meis2
|
UTSW |
2 |
115,697,369 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8797:Meis2
|
UTSW |
2 |
115,694,986 (GRCm39) |
missense |
probably benign |
|
|
R8881:Meis2
|
UTSW |
2 |
115,889,116 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9102:Meis2
|
UTSW |
2 |
115,694,760 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9153:Meis2
|
UTSW |
2 |
115,697,756 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9497:Meis2
|
UTSW |
2 |
115,694,724 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAACTGTTGCAAAATCTGTCC -3'
(R):5'- TCTGTGACATGTCCTTGATGC -3'
Sequencing Primer
(F):5'- ATCTGTCCATTTCTCAATGAGGAC -3'
(R):5'- ACATGTCCTTGATGCAGCGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation