Incidental Mutation 'R8861:Mipol1'
| ID |
675674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mipol1
|
| Ensembl Gene |
ENSMUSG00000047022 |
| Gene Name |
mirror-image polydactyly 1 |
| Synonyms |
1700081O04Rik, 6030439O22Rik, D12Ertd19e |
| MMRRC Submission |
068740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8861 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
57230427-57497199 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57306016 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 47
(V47A)
|
| 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 benign
Transcript: ENSMUST00000123498
AA Change: V47A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: V47A
| 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: ENSMUST00000130447
AA Change: V47A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: V47A
| 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: V47A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: V47A
| 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: V47A
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: V47A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
T |
C |
5: 139,410,887 (GRCm38) |
|
probably benign |
Het |
| 5430419D17Rik |
A |
T |
7: 131,259,961 (GRCm38) |
K1168* |
probably null |
Het |
| Acly |
A |
G |
11: 100,484,598 (GRCm38) |
|
probably null |
Het |
| Agap2 |
T |
G |
10: 127,090,514 (GRCm38) |
V896G |
unknown |
Het |
| Agtpbp1 |
T |
C |
13: 59,495,473 (GRCm38) |
Y724C |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,925,453 (GRCm38) |
N135D |
probably damaging |
Het |
| Aox3 |
T |
A |
1: 58,150,301 (GRCm38) |
I387K |
probably benign |
Het |
| Bysl |
T |
C |
17: 47,606,959 (GRCm38) |
E103G |
probably benign |
Het |
| Chmp5 |
T |
A |
4: 40,964,608 (GRCm38) |
V208E |
probably damaging |
Het |
| Chst9 |
T |
G |
18: 15,452,573 (GRCm38) |
H311P |
possibly damaging |
Het |
| Dcaf11 |
C |
A |
14: 55,564,498 (GRCm38) |
Y235* |
probably null |
Het |
| Dlx5 |
A |
C |
6: 6,878,233 (GRCm38) |
S266A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,241,076 (GRCm38) |
S2722T |
possibly damaging |
Het |
| Drc1 |
G |
A |
5: 30,364,495 (GRCm38) |
|
probably benign |
Het |
| En2 |
T |
A |
5: 28,166,735 (GRCm38) |
I70N |
probably damaging |
Het |
| Fam72a |
T |
C |
1: 131,538,918 (GRCm38) |
Y147H |
possibly damaging |
Het |
| Fermt2 |
A |
T |
14: 45,460,009 (GRCm38) |
F628L |
possibly damaging |
Het |
| Fkrp |
T |
A |
7: 16,810,824 (GRCm38) |
D371V |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,364,804 (GRCm38) |
L283P |
unknown |
Het |
| Gm13271 |
G |
A |
4: 88,755,129 (GRCm38) |
V88I |
probably benign |
Het |
| Gnmt |
G |
A |
17: 46,726,692 (GRCm38) |
T120M |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,042,398 (GRCm38) |
V10D |
possibly damaging |
Het |
| Hbs1l |
T |
A |
10: 21,345,064 (GRCm38) |
|
probably benign |
Het |
| Ick |
T |
A |
9: 78,164,562 (GRCm38) |
N505K |
probably benign |
Het |
| Igf2bp3 |
A |
C |
6: 49,105,616 (GRCm38) |
M344R |
possibly damaging |
Het |
| Kdm1b |
T |
C |
13: 47,064,106 (GRCm38) |
V347A |
probably benign |
Het |
| Klra17 |
A |
T |
6: 129,874,902 (GRCm38) |
S2R |
probably damaging |
Het |
| Klri1 |
A |
G |
6: 129,698,201 (GRCm38) |
S199P |
probably benign |
Het |
| Ltk |
T |
A |
2: 119,759,613 (GRCm38) |
Q44L |
probably benign |
Het |
| Map3k20 |
C |
A |
2: 72,389,467 (GRCm38) |
|
probably benign |
Het |
| Matn4 |
A |
T |
2: 164,392,905 (GRCm38) |
Y549N |
|
Het |
| Mcoln3 |
T |
A |
3: 146,139,404 (GRCm38) |
F452I |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,901,468 (GRCm38) |
L145S |
probably benign |
Het |
| Myh11 |
A |
T |
16: 14,246,782 (GRCm38) |
I224N |
|
Het |
| Nat8f1 |
A |
G |
6: 85,910,462 (GRCm38) |
L172P |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,691,368 (GRCm38) |
K438I |
probably benign |
Het |
| Nr1h3 |
T |
G |
2: 91,193,681 (GRCm38) |
|
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,610,035 (GRCm38) |
|
probably null |
Het |
| Olfr1036 |
A |
G |
2: 86,075,616 (GRCm38) |
N292S |
probably damaging |
Het |
| Olfr1271 |
T |
C |
2: 90,266,459 (GRCm38) |
|
probably benign |
Het |
| Olfr871 |
A |
T |
9: 20,213,081 (GRCm38) |
H244L |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,775,456 (GRCm38) |
Y98N |
probably benign |
Het |
| Ppp6r2 |
T |
G |
15: 89,259,165 (GRCm38) |
C172G |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,570,190 (GRCm38) |
D979G |
probably damaging |
Het |
| Rbm28 |
A |
G |
6: 29,152,285 (GRCm38) |
I329T |
probably damaging |
Het |
| Rnf144a |
T |
C |
12: 26,339,344 (GRCm38) |
T33A |
probably damaging |
Het |
| Rnf145 |
A |
G |
11: 44,555,157 (GRCm38) |
T273A |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,442,236 (GRCm38) |
R2758H |
|
Het |
| Slc22a19 |
A |
T |
19: 7,682,959 (GRCm38) |
M362K |
possibly damaging |
Het |
| Slc29a4 |
G |
C |
5: 142,718,825 (GRCm38) |
R374P |
probably damaging |
Het |
| Slc43a1 |
A |
G |
2: 84,861,404 (GRCm38) |
T528A |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,971,286 (GRCm38) |
Y172N |
probably damaging |
Het |
| Srpr |
T |
A |
9: 35,215,749 (GRCm38) |
M573K |
probably benign |
Het |
| Steap4 |
A |
G |
5: 7,975,672 (GRCm38) |
I78V |
probably benign |
Het |
| Sulf2 |
A |
G |
2: 166,132,686 (GRCm38) |
L26P |
possibly damaging |
Het |
| Taok2 |
T |
C |
7: 126,871,443 (GRCm38) |
K738E |
probably damaging |
Het |
| Tcea3 |
G |
A |
4: 136,254,499 (GRCm38) |
R56H |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,852,525 (GRCm38) |
V1575A |
probably damaging |
Het |
| Togaram1 |
T |
G |
12: 64,980,632 (GRCm38) |
S798R |
possibly damaging |
Het |
|
| Other mutations in Mipol1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Mipol1
|
APN |
12 |
57,307,353 (GRCm38) |
splice site |
probably benign |
|
|
IGL01139:Mipol1
|
APN |
12 |
57,306,035 (GRCm38) |
nonsense |
probably null |
|
|
IGL02679:Mipol1
|
APN |
12 |
57,306,043 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL03109:Mipol1
|
APN |
12 |
57,364,224 (GRCm38) |
missense |
probably benign |
0.20 |
|
R0001:Mipol1
|
UTSW |
12 |
57,460,839 (GRCm38) |
splice site |
probably benign |
|
|
R0220:Mipol1
|
UTSW |
12 |
57,457,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0271:Mipol1
|
UTSW |
12 |
57,460,954 (GRCm38) |
unclassified |
probably benign |
|
|
R0284:Mipol1
|
UTSW |
12 |
57,457,069 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0496:Mipol1
|
UTSW |
12 |
57,457,177 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0538:Mipol1
|
UTSW |
12 |
57,414,411 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1082:Mipol1
|
UTSW |
12 |
57,325,616 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1552:Mipol1
|
UTSW |
12 |
57,306,088 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1558:Mipol1
|
UTSW |
12 |
57,332,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1928:Mipol1
|
UTSW |
12 |
57,332,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2104:Mipol1
|
UTSW |
12 |
57,306,056 (GRCm38) |
splice site |
probably null |
|
|
R2495:Mipol1
|
UTSW |
12 |
57,460,990 (GRCm38) |
splice site |
probably benign |
|
|
R3723:Mipol1
|
UTSW |
12 |
57,457,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4431:Mipol1
|
UTSW |
12 |
57,303,524 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R4447:Mipol1
|
UTSW |
12 |
57,352,748 (GRCm38) |
intron |
probably benign |
|
|
R4654:Mipol1
|
UTSW |
12 |
57,306,132 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4847:Mipol1
|
UTSW |
12 |
57,303,496 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4851:Mipol1
|
UTSW |
12 |
57,332,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5113:Mipol1
|
UTSW |
12 |
57,496,499 (GRCm38) |
missense |
probably benign |
0.36 |
|
R5668:Mipol1
|
UTSW |
12 |
57,325,560 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6535:Mipol1
|
UTSW |
12 |
57,306,100 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7172:Mipol1
|
UTSW |
12 |
57,325,535 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7191:Mipol1
|
UTSW |
12 |
57,457,066 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7560:Mipol1
|
UTSW |
12 |
57,306,073 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8508:Mipol1
|
UTSW |
12 |
57,306,088 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8752:Mipol1
|
UTSW |
12 |
57,325,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8772:Mipol1
|
UTSW |
12 |
57,325,632 (GRCm38) |
missense |
probably benign |
0.23 |
|
R8928:Mipol1
|
UTSW |
12 |
57,460,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9011:Mipol1
|
UTSW |
12 |
57,457,079 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9250:Mipol1
|
UTSW |
12 |
57,414,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9383:Mipol1
|
UTSW |
12 |
57,306,034 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGAGTCTCTTTTGGGATCACT -3'
(R):5'- ACAACAGAGAAAACTGGAACTGT -3'
Sequencing Primer
(F):5'- AGTCTCTTTTGGGATCACTGTGTG -3'
(R):5'- CTTGCTCTGAGAATTTCCAA -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation