Incidental Mutation 'R3927:Meis3'
| ID |
308329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meis3
|
| Ensembl Gene |
ENSMUSG00000041420 |
| Gene Name |
Meis homeobox 3 |
| Synonyms |
Mrg2 |
| MMRRC Submission |
040822-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R3927 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15909015-15920429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15911419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 39
(T39A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002495]
[ENSMUST00000176342]
[ENSMUST00000176446]
[ENSMUST00000176506]
[ENSMUST00000177156]
[ENSMUST00000177540]
|
| AlphaFold |
P97368 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002495
AA Change: T39A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002495
Gene: ENSMUSG00000041420
AA Change: T39A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
|
HOX
|
265 |
330 |
9.15e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175946
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176083
AA Change: T39A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135196
Gene: ENSMUSG00000041420
AA Change: T39A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meis_PKNOX_N
|
99 |
183 |
6.5e-47 |
PFAM |
|
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
|
HOX
|
265 |
330 |
9.15e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176342
AA Change: T39A
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135302
Gene: ENSMUSG00000041420
AA Change: T39A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176506
AA Change: T39A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134918
Gene: ENSMUSG00000041420
AA Change: T39A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
HOX
|
248 |
313 |
9.15e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177156
AA Change: T39A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000135103
Gene: ENSMUSG00000041420
AA Change: T39A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
|
Pfam:Homeobox_KN
|
283 |
313 |
2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177540
AA Change: T39A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135388
Gene: ENSMUSG00000041420
AA Change: T39A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183527
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
95% (40/42) |
| MGI Phenotype |
FUNCTION: The protein encoding this gene belongs to the three amino acid loop extension family of homeodomain transcription factors, which play essential roles in many embryonic processes. These proteins are characterized by an atypical homeodomain containing a three amino acid loop extension between helices 1 and 2. Expression of this gene begins during the compaction stage of embryogenesis and continues into the blastocyst stage. This gene is also expressed in pancreatic islet cells and beta-cells and regulates beta-cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
G |
2: 103,538,563 (GRCm39) |
|
probably null |
Het |
| Alpk1 |
T |
C |
3: 127,471,365 (GRCm39) |
H1039R |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,616 (GRCm39) |
S303G |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,246,840 (GRCm39) |
L79S |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,967,928 (GRCm39) |
I667T |
possibly damaging |
Het |
| Bend5 |
A |
G |
4: 111,305,802 (GRCm39) |
Y282C |
possibly damaging |
Het |
| Clstn3 |
T |
C |
6: 124,428,327 (GRCm39) |
D438G |
probably damaging |
Het |
| Cog3 |
A |
G |
14: 75,980,998 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,441,525 (GRCm39) |
N55S |
probably benign |
Het |
| Eif4b |
G |
A |
15: 101,992,745 (GRCm39) |
G101R |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,033,861 (GRCm39) |
L40P |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,139,135 (GRCm39) |
V356A |
probably benign |
Het |
| Hal |
T |
C |
10: 93,349,888 (GRCm39) |
|
probably benign |
Het |
| Helz |
A |
G |
11: 107,576,118 (GRCm39) |
Y1770C |
unknown |
Het |
| Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
| Or6n2 |
A |
T |
1: 173,896,878 (GRCm39) |
N5Y |
probably damaging |
Het |
| Pacsin3 |
C |
T |
2: 91,093,286 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
A |
12: 79,100,422 (GRCm39) |
I130N |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,428,465 (GRCm39) |
E512K |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,531 (GRCm39) |
I215M |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sap130 |
A |
T |
18: 31,807,435 (GRCm39) |
H414L |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,145 (GRCm39) |
I156T |
probably benign |
Het |
| Slc37a2 |
G |
A |
9: 37,146,803 (GRCm39) |
T338M |
probably damaging |
Het |
| Spinkl |
T |
A |
18: 44,302,230 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,251,878 (GRCm39) |
L657* |
probably null |
Het |
| Tmem217 |
A |
G |
17: 29,745,677 (GRCm39) |
S18P |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,387,967 (GRCm39) |
V353A |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,553,741 (GRCm39) |
F974L |
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,777,678 (GRCm39) |
L382P |
probably damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,436,723 (GRCm39) |
|
probably null |
Het |
| Unkl |
C |
T |
17: 25,448,303 (GRCm39) |
T66I |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,880,109 (GRCm39) |
N477K |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,749,208 (GRCm39) |
S899P |
probably damaging |
Het |
| Zzz3 |
T |
C |
3: 152,161,499 (GRCm39) |
Y298H |
probably damaging |
Het |
|
| Other mutations in Meis3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Meis3
|
APN |
7 |
15,912,872 (GRCm39) |
critical splice acceptor site |
probably benign |
0.00 |
|
IGL02508:Meis3
|
APN |
7 |
15,912,722 (GRCm39) |
splice site |
probably null |
|
|
IGL03125:Meis3
|
APN |
7 |
15,912,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03383:Meis3
|
APN |
7 |
15,917,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Meis3
|
UTSW |
7 |
15,916,210 (GRCm39) |
unclassified |
probably benign |
|
|
R1147:Meis3
|
UTSW |
7 |
15,917,701 (GRCm39) |
unclassified |
probably benign |
|
|
R1471:Meis3
|
UTSW |
7 |
15,911,496 (GRCm39) |
nonsense |
probably null |
|
|
R3054:Meis3
|
UTSW |
7 |
15,916,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Meis3
|
UTSW |
7 |
15,917,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6713:Meis3
|
UTSW |
7 |
15,916,255 (GRCm39) |
nonsense |
probably null |
|
|
R6847:Meis3
|
UTSW |
7 |
15,917,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7218:Meis3
|
UTSW |
7 |
15,918,626 (GRCm39) |
missense |
probably benign |
|
|
R7517:Meis3
|
UTSW |
7 |
15,911,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Meis3
|
UTSW |
7 |
15,911,418 (GRCm39) |
nonsense |
probably null |
|
|
R7699:Meis3
|
UTSW |
7 |
15,911,481 (GRCm39) |
missense |
probably benign |
|
|
R7700:Meis3
|
UTSW |
7 |
15,911,481 (GRCm39) |
missense |
probably benign |
|
|
R7790:Meis3
|
UTSW |
7 |
15,916,322 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8902:Meis3
|
UTSW |
7 |
15,911,887 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8909:Meis3
|
UTSW |
7 |
15,919,385 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9095:Meis3
|
UTSW |
7 |
15,917,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGGGATCCTTGAATACTG -3'
(R):5'- CAGGAAAGTGGGCATTCGTG -3'
Sequencing Primer
(F):5'- GCTGGGATCCTTGAATACTGAAGTAC -3'
(R):5'- TGGGCATTCGTGAGGGGAAATAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation