Incidental Mutation 'R0220:Mipol1'
ID |
33806 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mipol1
|
Ensembl Gene |
ENSMUSG00000047022 |
Gene Name |
mirror-image polydactyly 1 |
Synonyms |
6030439O22Rik, D12Ertd19e, 1700081O04Rik |
MMRRC Submission |
038469-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0220 (G1)
|
Quality Score |
224 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
57277211-57504027 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57503936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 368
(E368G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123498]
[ENSMUST00000130447]
[ENSMUST00000145003]
[ENSMUST00000153137]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123498
AA Change: E368G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119636 Gene: ENSMUSG00000047022 AA Change: E368G
Domain | Start | End | E-Value | Type |
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130447
AA Change: E368G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119918 Gene: ENSMUSG00000047022 AA Change: E368G
Domain | Start | End | E-Value | Type |
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145003
AA Change: E368G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121617 Gene: ENSMUSG00000047022 AA Change: E368G
Domain | Start | End | E-Value | Type |
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153137
AA Change: E368G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117005 Gene: ENSMUSG00000047022 AA Change: E368G
Domain | Start | End | E-Value | Type |
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,195,194 (GRCm39) |
|
probably null |
Het |
Abcc5 |
A |
G |
16: 20,187,852 (GRCm39) |
V863A |
probably benign |
Het |
Anxa6 |
A |
C |
11: 54,872,588 (GRCm39) |
|
probably null |
Het |
Armc10 |
A |
G |
5: 21,866,582 (GRCm39) |
K296R |
probably benign |
Het |
Arpc2 |
T |
A |
1: 74,287,293 (GRCm39) |
F38I |
probably damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Bcl6 |
T |
A |
16: 23,784,969 (GRCm39) |
H677L |
possibly damaging |
Het |
Bcl7a |
G |
A |
5: 123,489,982 (GRCm39) |
V49I |
probably damaging |
Het |
Ccnj |
T |
C |
19: 40,833,254 (GRCm39) |
L144P |
probably damaging |
Het |
Cdh8 |
G |
T |
8: 99,838,311 (GRCm39) |
P510T |
probably benign |
Het |
Cgnl1 |
C |
A |
9: 71,632,225 (GRCm39) |
K375N |
possibly damaging |
Het |
Cubn |
C |
A |
2: 13,361,520 (GRCm39) |
R1695L |
probably damaging |
Het |
Cyp3a59 |
G |
A |
5: 146,035,080 (GRCm39) |
V253I |
probably benign |
Het |
Cyp4f13 |
A |
G |
17: 33,148,476 (GRCm39) |
I208T |
probably damaging |
Het |
Dennd4a |
A |
C |
9: 64,759,727 (GRCm39) |
E277D |
probably damaging |
Het |
Depdc1a |
G |
A |
3: 159,229,542 (GRCm39) |
V625I |
probably benign |
Het |
Dot1l |
A |
T |
10: 80,621,692 (GRCm39) |
D448V |
probably damaging |
Het |
Efhc1 |
A |
G |
1: 21,037,582 (GRCm39) |
D253G |
probably damaging |
Het |
Eme1 |
T |
A |
11: 94,541,084 (GRCm39) |
E246V |
probably null |
Het |
Foxred1 |
A |
G |
9: 35,120,749 (GRCm39) |
L128P |
probably damaging |
Het |
Gm4787 |
G |
T |
12: 81,425,422 (GRCm39) |
S245R |
probably damaging |
Het |
Gm5141 |
T |
A |
13: 62,922,271 (GRCm39) |
K299N |
probably damaging |
Het |
Greb1 |
C |
A |
12: 16,732,287 (GRCm39) |
R1558L |
probably damaging |
Het |
Ip6k3 |
A |
T |
17: 27,364,203 (GRCm39) |
F282I |
probably damaging |
Het |
Kdm2a |
T |
C |
19: 4,374,947 (GRCm39) |
D288G |
possibly damaging |
Het |
Kdm4d |
A |
T |
9: 14,374,418 (GRCm39) |
V480E |
probably benign |
Het |
Kif26a |
A |
T |
12: 112,123,824 (GRCm39) |
Q143L |
probably damaging |
Het |
Klhl41 |
G |
A |
2: 69,500,829 (GRCm39) |
D97N |
probably benign |
Het |
Krt34 |
C |
T |
11: 99,929,519 (GRCm39) |
|
probably benign |
Het |
Lcn11 |
A |
T |
2: 25,667,843 (GRCm39) |
H77L |
probably benign |
Het |
Megf6 |
G |
A |
4: 154,342,672 (GRCm39) |
R529H |
probably damaging |
Het |
Mtus1 |
A |
T |
8: 41,447,609 (GRCm39) |
M442K |
probably damaging |
Het |
Naca |
T |
C |
10: 127,879,255 (GRCm39) |
|
probably benign |
Het |
Nbea |
G |
A |
3: 55,912,724 (GRCm39) |
T1021I |
probably benign |
Het |
Nfib |
A |
T |
4: 82,215,013 (GRCm39) |
V530E |
probably damaging |
Het |
Nptx1 |
A |
G |
11: 119,435,467 (GRCm39) |
V283A |
probably damaging |
Het |
Opn5 |
A |
G |
17: 42,907,495 (GRCm39) |
V127A |
probably benign |
Het |
Or4c126 |
G |
T |
2: 89,824,206 (GRCm39) |
L156F |
probably benign |
Het |
Or5h22 |
A |
T |
16: 58,895,095 (GRCm39) |
M116K |
probably damaging |
Het |
Pcgf6 |
A |
G |
19: 47,028,529 (GRCm39) |
V291A |
probably benign |
Het |
Pilrb2 |
C |
A |
5: 137,869,459 (GRCm39) |
R47L |
probably benign |
Het |
Prom2 |
A |
C |
2: 127,383,027 (GRCm39) |
S72A |
probably benign |
Het |
Sema3e |
T |
C |
5: 14,214,167 (GRCm39) |
F144S |
possibly damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Smarcc2 |
A |
T |
10: 128,319,505 (GRCm39) |
D798V |
probably benign |
Het |
Taf5 |
T |
C |
19: 47,068,999 (GRCm39) |
S563P |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,578,368 (GRCm39) |
H426R |
possibly damaging |
Het |
Tpgs1 |
T |
A |
10: 79,511,271 (GRCm39) |
C138S |
possibly damaging |
Het |
Traf1 |
A |
T |
2: 34,839,115 (GRCm39) |
V70D |
probably benign |
Het |
Ttn |
T |
C |
2: 76,641,737 (GRCm39) |
Y13453C |
probably damaging |
Het |
Ubxn4 |
T |
A |
1: 128,183,931 (GRCm39) |
V97D |
possibly damaging |
Het |
Ugt1a8 |
A |
T |
1: 88,016,057 (GRCm39) |
I157L |
probably benign |
Het |
Vmn2r13 |
A |
T |
5: 109,304,332 (GRCm39) |
C700S |
probably damaging |
Het |
Wee1 |
A |
T |
7: 109,723,733 (GRCm39) |
D216V |
probably benign |
Het |
Zc3h4 |
T |
C |
7: 16,163,198 (GRCm39) |
Y533H |
unknown |
Het |
Zfp1005 |
A |
T |
2: 150,110,595 (GRCm39) |
Q428H |
unknown |
Het |
Zfp81 |
A |
G |
17: 33,555,698 (GRCm39) |
I43T |
possibly damaging |
Het |
Zfp963 |
A |
T |
8: 70,196,145 (GRCm39) |
Y103N |
probably benign |
Het |
Zfp963 |
A |
T |
8: 70,196,143 (GRCm39) |
Y103* |
probably null |
Het |
Zzef1 |
G |
T |
11: 72,756,792 (GRCm39) |
D1126Y |
probably 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 |
|
IGL01139:Mipol1
|
APN |
12 |
57,352,821 (GRCm39) |
nonsense |
probably null |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGGCCTAGTAGCAGAGTTACAG -3'
(R):5'- AGGATTTAAGCACCGCAGAATCCAC -3'
Sequencing Primer
(F):5'- CATTATCTCAAGAAGAAAGCCTGAAG -3'
(R):5'- GAATCCACGAGCTGATCCG -3'
|
Posted On |
2013-05-09 |