Incidental Mutation 'IGL01139:Mipol1'
| ID |
52501 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mipol1
|
| Ensembl Gene |
ENSMUSG00000047022 |
| Gene Name |
mirror-image polydactyly 1 |
| Synonyms |
6030439O22Rik, D12Ertd19e, 1700081O04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
57277211-57504027 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 57352821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 53
(Y53*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123498]
[ENSMUST00000130447]
[ENSMUST00000145003]
[ENSMUST00000153137]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000123498
AA Change: Y53*
|
| SMART Domains |
Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: Y53*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
|
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130447
AA Change: Y53*
|
| SMART Domains |
Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: Y53*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
|
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136006
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145003
AA Change: Y53*
|
| SMART Domains |
Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: Y53*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
|
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150292
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153137
AA Change: Y53*
|
| SMART Domains |
Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: Y53*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
|
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153755
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,259 (GRCm39) |
Y297* |
probably null |
Het |
| Actr3 |
A |
T |
1: 125,333,622 (GRCm39) |
I215N |
probably damaging |
Het |
| Ambn |
C |
T |
5: 88,612,376 (GRCm39) |
|
probably benign |
Het |
| Arhgef1 |
T |
A |
7: 24,625,376 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,421,308 (GRCm39) |
S832R |
unknown |
Het |
| Clca4a |
A |
T |
3: 144,672,030 (GRCm39) |
I304N |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,366,248 (GRCm39) |
P274S |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,171,143 (GRCm39) |
D211E |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,385,960 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
C |
T |
18: 25,199,401 (GRCm39) |
P691S |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,945,989 (GRCm38) |
S2465G |
probably damaging |
Het |
| Ftsj1 |
G |
A |
X: 8,112,831 (GRCm39) |
R171C |
probably damaging |
Het |
| Glb1l3 |
G |
A |
9: 26,729,523 (GRCm39) |
T648I |
probably benign |
Het |
| Gm4222 |
T |
A |
2: 89,978,889 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
G |
A |
15: 100,322,096 (GRCm39) |
|
probably benign |
Het |
| Jaml |
C |
A |
9: 45,012,317 (GRCm39) |
T268N |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,549,969 (GRCm39) |
T217A |
possibly damaging |
Het |
| Ltn1 |
A |
G |
16: 87,212,897 (GRCm39) |
S555P |
probably benign |
Het |
| Map3k15 |
T |
A |
X: 158,855,875 (GRCm39) |
M350K |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,569,315 (GRCm39) |
D1095G |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,255,716 (GRCm39) |
|
probably benign |
Het |
| Nrn1 |
A |
G |
13: 36,914,190 (GRCm39) |
C31R |
probably damaging |
Het |
| Nup210 |
A |
T |
6: 91,007,079 (GRCm39) |
L579H |
possibly damaging |
Het |
| Nxf2 |
T |
C |
X: 133,851,145 (GRCm39) |
I578V |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,969,178 (GRCm39) |
A172V |
probably damaging |
Het |
| Or10h1b |
T |
A |
17: 33,395,756 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or9g4 |
T |
G |
2: 85,504,841 (GRCm39) |
Y218S |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,912,918 (GRCm39) |
D748G |
probably damaging |
Het |
| Psd3 |
A |
T |
8: 68,361,187 (GRCm39) |
Y863N |
probably damaging |
Het |
| Psmc6 |
C |
T |
14: 45,581,167 (GRCm39) |
T321I |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,756,825 (GRCm39) |
*31W |
probably null |
Het |
| Rictor |
A |
C |
15: 6,807,749 (GRCm39) |
K791Q |
probably damaging |
Het |
| Slc12a9 |
C |
T |
5: 137,321,104 (GRCm39) |
M470I |
probably damaging |
Het |
| Tex28 |
A |
T |
X: 73,194,830 (GRCm39) |
M367K |
possibly damaging |
Het |
| Thnsl2 |
A |
T |
6: 71,115,718 (GRCm39) |
V163D |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,887 (GRCm39) |
R633Q |
possibly damaging |
Het |
| Trf |
A |
T |
9: 103,100,803 (GRCm39) |
V224D |
probably damaging |
Het |
| Ttc8 |
C |
T |
12: 98,930,804 (GRCm39) |
Q273* |
probably null |
Het |
| Usp9x |
A |
G |
X: 12,970,815 (GRCm39) |
|
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,778 (GRCm39) |
W210R |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,826 (GRCm39) |
S718P |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,989 (GRCm39) |
D2932G |
probably damaging |
Het |
| Whamm |
T |
C |
7: 81,245,662 (GRCm39) |
L706P |
probably damaging |
Het |
| Yeats2 |
G |
A |
16: 20,033,143 (GRCm39) |
V45I |
probably damaging |
Het |
| Yipf3 |
G |
A |
17: 46,561,383 (GRCm39) |
|
probably null |
Het |
| Zeb1 |
T |
C |
18: 5,705,061 (GRCm39) |
V26A |
possibly damaging |
Het |
|
| Other mutations in Mipol1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Mipol1
|
APN |
12 |
57,354,139 (GRCm39) |
splice site |
probably benign |
|
|
IGL02679:Mipol1
|
APN |
12 |
57,352,829 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03109:Mipol1
|
APN |
12 |
57,411,010 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0001:Mipol1
|
UTSW |
12 |
57,507,625 (GRCm39) |
splice site |
probably benign |
|
|
R0220:Mipol1
|
UTSW |
12 |
57,503,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Mipol1
|
UTSW |
12 |
57,507,740 (GRCm39) |
unclassified |
probably benign |
|
|
R0284:Mipol1
|
UTSW |
12 |
57,503,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0496:Mipol1
|
UTSW |
12 |
57,503,963 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0538:Mipol1
|
UTSW |
12 |
57,461,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1082:Mipol1
|
UTSW |
12 |
57,372,402 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1552:Mipol1
|
UTSW |
12 |
57,352,874 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1558:Mipol1
|
UTSW |
12 |
57,379,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Mipol1
|
UTSW |
12 |
57,379,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Mipol1
|
UTSW |
12 |
57,352,842 (GRCm39) |
splice site |
probably null |
|
|
R2495:Mipol1
|
UTSW |
12 |
57,507,776 (GRCm39) |
splice site |
probably benign |
|
|
R3723:Mipol1
|
UTSW |
12 |
57,503,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4431:Mipol1
|
UTSW |
12 |
57,350,310 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4447:Mipol1
|
UTSW |
12 |
57,399,534 (GRCm39) |
intron |
probably benign |
|
|
R4654:Mipol1
|
UTSW |
12 |
57,352,918 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4847:Mipol1
|
UTSW |
12 |
57,350,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4851:Mipol1
|
UTSW |
12 |
57,379,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5113:Mipol1
|
UTSW |
12 |
57,543,285 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5668:Mipol1
|
UTSW |
12 |
57,372,346 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6535:Mipol1
|
UTSW |
12 |
57,352,886 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7172:Mipol1
|
UTSW |
12 |
57,372,321 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7191:Mipol1
|
UTSW |
12 |
57,503,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7560:Mipol1
|
UTSW |
12 |
57,352,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8508:Mipol1
|
UTSW |
12 |
57,352,874 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8752:Mipol1
|
UTSW |
12 |
57,372,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Mipol1
|
UTSW |
12 |
57,372,418 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8861:Mipol1
|
UTSW |
12 |
57,352,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8928:Mipol1
|
UTSW |
12 |
57,507,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9011:Mipol1
|
UTSW |
12 |
57,503,865 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9250:Mipol1
|
UTSW |
12 |
57,461,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Mipol1
|
UTSW |
12 |
57,352,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation