Incidental Mutation 'IGL03109:Mipol1'
| ID |
419117 |
| 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 # |
IGL03109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
57277211-57504027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57411010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 267
(R267H)
|
| 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 benign
Transcript: ENSMUST00000123498
AA Change: R267H
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: R267H
| 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: ENSMUST00000128945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130447
AA Change: R267H
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: R267H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
|
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145003
AA Change: R267H
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: R267H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
|
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153137
AA Change: R267H
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: R267H
| 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
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,628 (GRCm39) |
S96R |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,071,173 (GRCm39) |
H1506L |
probably damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,734,304 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,846,841 (GRCm39) |
T424A |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,886,329 (GRCm39) |
S552R |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,952,527 (GRCm39) |
T2172A |
possibly damaging |
Het |
| Commd9 |
T |
C |
2: 101,727,515 (GRCm39) |
V103A |
probably benign |
Het |
| Ctnnal1 |
T |
A |
4: 56,839,045 (GRCm39) |
D216V |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,276,765 (GRCm39) |
T519A |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,069,188 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,841,950 (GRCm39) |
T1369A |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,199,121 (GRCm39) |
T222A |
possibly damaging |
Het |
| Eef2k |
G |
A |
7: 120,490,949 (GRCm39) |
G523E |
probably damaging |
Het |
| Ephb2 |
T |
G |
4: 136,498,855 (GRCm39) |
T75P |
probably damaging |
Het |
| Exo1 |
A |
T |
1: 175,727,126 (GRCm39) |
N479I |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,811,006 (GRCm39) |
L88P |
possibly damaging |
Het |
| Golgb1 |
T |
A |
16: 36,735,973 (GRCm39) |
V1740E |
possibly damaging |
Het |
| Icos |
A |
G |
1: 61,036,856 (GRCm39) |
|
probably benign |
Het |
| Il6ra |
C |
A |
3: 89,784,165 (GRCm39) |
G369* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,394,942 (GRCm39) |
D83G |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,379,135 (GRCm39) |
I560T |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,402,514 (GRCm39) |
R2219H |
probably benign |
Het |
| Mical3 |
A |
T |
6: 120,986,085 (GRCm39) |
C119S |
probably damaging |
Het |
| Myrip |
A |
T |
9: 120,282,790 (GRCm39) |
|
probably null |
Het |
| Nelfb |
G |
A |
2: 25,091,073 (GRCm39) |
L542F |
possibly damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,873 (GRCm39) |
C359R |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,280,212 (GRCm39) |
H40L |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,610,089 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
C |
T |
17: 38,263,378 (GRCm39) |
C179Y |
probably damaging |
Het |
| Pank3 |
T |
A |
11: 35,668,501 (GRCm39) |
F163L |
probably benign |
Het |
| Pde10a |
T |
C |
17: 9,148,046 (GRCm39) |
|
probably null |
Het |
| Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Rfc3 |
A |
G |
5: 151,566,559 (GRCm39) |
S297P |
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,399,165 (GRCm39) |
M246K |
probably benign |
Het |
| Slc5a8 |
C |
T |
10: 88,742,278 (GRCm39) |
|
probably benign |
Het |
| Tecrl |
A |
G |
5: 83,457,156 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
T |
11: 87,434,191 (GRCm39) |
E119V |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,683,224 (GRCm39) |
K669R |
probably damaging |
Het |
| Tnfrsf4 |
C |
A |
4: 156,099,868 (GRCm39) |
H130Q |
probably damaging |
Het |
| Trav18 |
G |
A |
14: 54,069,008 (GRCm39) |
A18T |
probably benign |
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 |
|
|
IGL01139:Mipol1
|
APN |
12 |
57,352,821 (GRCm39) |
nonsense |
probably null |
|
|
IGL02679:Mipol1
|
APN |
12 |
57,352,829 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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 |
2016-08-02 |
Incidental Mutation