Incidental Mutation 'R8861:Mipol1'
ID |
675674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mipol1
|
Ensembl Gene |
ENSMUSG00000047022 |
Gene Name |
mirror-image polydactyly 1 |
Synonyms |
6030439O22Rik, D12Ertd19e, 1700081O04Rik |
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 |
57277211-57504027 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57352802 bp (GRCm39)
|
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: 139,396,642 (GRCm39) |
|
probably benign |
Het |
Acly |
A |
G |
11: 100,375,424 (GRCm39) |
|
probably null |
Het |
Agap2 |
T |
G |
10: 126,926,383 (GRCm39) |
V896G |
unknown |
Het |
Agtpbp1 |
T |
C |
13: 59,643,287 (GRCm39) |
Y724C |
probably damaging |
Het |
Angpt4 |
A |
G |
2: 151,767,373 (GRCm39) |
N135D |
probably damaging |
Het |
Aox3 |
T |
A |
1: 58,189,460 (GRCm39) |
I387K |
probably benign |
Het |
Bysl |
T |
C |
17: 47,917,884 (GRCm39) |
E103G |
probably benign |
Het |
Cdcp3 |
A |
T |
7: 130,861,690 (GRCm39) |
K1168* |
probably null |
Het |
Chmp5 |
T |
A |
4: 40,964,608 (GRCm39) |
V208E |
probably damaging |
Het |
Chst9 |
T |
G |
18: 15,585,630 (GRCm39) |
H311P |
possibly damaging |
Het |
Cilk1 |
T |
A |
9: 78,071,844 (GRCm39) |
N505K |
probably benign |
Het |
Dcaf11 |
C |
A |
14: 55,801,955 (GRCm39) |
Y235* |
probably null |
Het |
Dlx5 |
A |
C |
6: 6,878,233 (GRCm39) |
S266A |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,280,236 (GRCm39) |
S2722T |
possibly damaging |
Het |
Drc1 |
G |
A |
5: 30,521,839 (GRCm39) |
|
probably benign |
Het |
En2 |
T |
A |
5: 28,371,733 (GRCm39) |
I70N |
probably damaging |
Het |
Fam72a |
T |
C |
1: 131,466,656 (GRCm39) |
Y147H |
possibly damaging |
Het |
Fermt2 |
A |
T |
14: 45,697,466 (GRCm39) |
F628L |
possibly damaging |
Het |
Fkrp |
T |
A |
7: 16,544,749 (GRCm39) |
D371V |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,195,149 (GRCm39) |
L283P |
unknown |
Het |
Gm13271 |
G |
A |
4: 88,673,366 (GRCm39) |
V88I |
probably benign |
Het |
Gnmt |
G |
A |
17: 47,037,618 (GRCm39) |
T120M |
probably damaging |
Het |
H2-T22 |
A |
T |
17: 36,353,290 (GRCm39) |
V10D |
possibly damaging |
Het |
Hbs1l |
T |
A |
10: 21,220,963 (GRCm39) |
|
probably benign |
Het |
Igf2bp3 |
A |
C |
6: 49,082,550 (GRCm39) |
M344R |
possibly damaging |
Het |
Kdm1b |
T |
C |
13: 47,217,582 (GRCm39) |
V347A |
probably benign |
Het |
Klra17 |
A |
T |
6: 129,851,865 (GRCm39) |
S2R |
probably damaging |
Het |
Klri1 |
A |
G |
6: 129,675,164 (GRCm39) |
S199P |
probably benign |
Het |
Ltk |
T |
A |
2: 119,590,094 (GRCm39) |
Q44L |
probably benign |
Het |
Map3k20 |
C |
A |
2: 72,219,811 (GRCm39) |
|
probably benign |
Het |
Matn4 |
A |
T |
2: 164,234,825 (GRCm39) |
Y549N |
|
Het |
Mcoln3 |
T |
A |
3: 145,845,159 (GRCm39) |
F452I |
probably damaging |
Het |
Msh4 |
A |
G |
3: 153,607,105 (GRCm39) |
L145S |
probably benign |
Het |
Myh11 |
A |
T |
16: 14,064,646 (GRCm39) |
I224N |
|
Het |
Nat8f1 |
A |
G |
6: 85,887,444 (GRCm39) |
L172P |
probably damaging |
Het |
Ncoa7 |
T |
A |
10: 30,567,364 (GRCm39) |
K438I |
probably benign |
Het |
Nr1h3 |
T |
G |
2: 91,024,026 (GRCm39) |
|
probably benign |
Het |
Nuggc |
T |
C |
14: 65,847,484 (GRCm39) |
|
probably null |
Het |
Or4b12 |
T |
C |
2: 90,096,803 (GRCm39) |
|
probably benign |
Het |
Or5m9b |
A |
G |
2: 85,905,960 (GRCm39) |
N292S |
probably damaging |
Het |
Or7h8 |
A |
T |
9: 20,124,377 (GRCm39) |
H244L |
probably damaging |
Het |
Pfn4 |
T |
A |
12: 4,825,456 (GRCm39) |
Y98N |
probably benign |
Het |
Ppp6r2 |
T |
G |
15: 89,143,368 (GRCm39) |
C172G |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,446,186 (GRCm39) |
D979G |
probably damaging |
Het |
Rbm28 |
A |
G |
6: 29,152,284 (GRCm39) |
I329T |
probably damaging |
Het |
Rnf144a |
T |
C |
12: 26,389,343 (GRCm39) |
T33A |
probably damaging |
Het |
Rnf145 |
A |
G |
11: 44,445,984 (GRCm39) |
T273A |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,333,062 (GRCm39) |
R2758H |
|
Het |
Slc22a19 |
A |
T |
19: 7,660,324 (GRCm39) |
M362K |
possibly damaging |
Het |
Slc29a4 |
G |
C |
5: 142,704,580 (GRCm39) |
R374P |
probably damaging |
Het |
Slc43a1 |
A |
G |
2: 84,691,748 (GRCm39) |
T528A |
possibly damaging |
Het |
Sp3 |
A |
T |
2: 72,801,630 (GRCm39) |
Y172N |
probably damaging |
Het |
Srpra |
T |
A |
9: 35,127,045 (GRCm39) |
M573K |
probably benign |
Het |
Steap4 |
A |
G |
5: 8,025,672 (GRCm39) |
I78V |
probably benign |
Het |
Sulf2 |
A |
G |
2: 165,974,606 (GRCm39) |
L26P |
possibly damaging |
Het |
Taok2 |
T |
C |
7: 126,470,615 (GRCm39) |
K738E |
probably damaging |
Het |
Tcea3 |
G |
A |
4: 135,981,810 (GRCm39) |
R56H |
probably damaging |
Het |
Tcf20 |
A |
G |
15: 82,736,726 (GRCm39) |
V1575A |
probably damaging |
Het |
Togaram1 |
T |
G |
12: 65,027,406 (GRCm39) |
S798R |
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 |
|
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 |
|
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 |
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'- CGGAGTCTCTTTTGGGATCACT -3'
(R):5'- ACAACAGAGAAAACTGGAACTGT -3'
Sequencing Primer
(F):5'- AGTCTCTTTTGGGATCACTGTGTG -3'
(R):5'- CTTGCTCTGAGAATTTCCAA -3'
|
Posted On |
2021-07-15 |