Incidental Mutation 'R1558:Mipol1'
ID |
170440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mipol1
|
Ensembl Gene |
ENSMUSG00000047022 |
Gene Name |
mirror-image polydactyly 1 |
Synonyms |
6030439O22Rik, D12Ertd19e, 1700081O04Rik |
MMRRC Submission |
039597-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1558 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
57277211-57504027 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57379127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 195
(I195T)
|
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 damaging
Transcript: ENSMUST00000123498
AA Change: I195T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119636 Gene: ENSMUSG00000047022 AA Change: I195T
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 damaging
Transcript: ENSMUST00000130447
AA Change: I195T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119918 Gene: ENSMUSG00000047022 AA Change: I195T
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: I195T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121617 Gene: ENSMUSG00000047022 AA Change: I195T
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: ENSMUST00000150292
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153137
AA Change: I195T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117005 Gene: ENSMUSG00000047022 AA Change: I195T
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 |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
A |
4: 53,092,887 (GRCm39) |
Q299L |
probably null |
Het |
Adamts9 |
T |
G |
6: 92,885,692 (GRCm39) |
K399N |
possibly damaging |
Het |
Alox12b |
T |
C |
11: 69,056,711 (GRCm39) |
F369S |
probably damaging |
Het |
Alpk2 |
A |
G |
18: 65,483,301 (GRCm39) |
Y236H |
probably benign |
Het |
Ankrd36 |
T |
C |
11: 5,585,329 (GRCm39) |
L380P |
probably damaging |
Het |
Atp2a1 |
C |
T |
7: 126,051,844 (GRCm39) |
A468T |
possibly damaging |
Het |
Caprin1 |
A |
T |
2: 103,606,332 (GRCm39) |
F303I |
possibly damaging |
Het |
Casp7 |
A |
T |
19: 56,421,684 (GRCm39) |
R41* |
probably null |
Het |
Ccdc66 |
T |
A |
14: 27,208,463 (GRCm39) |
H753L |
probably benign |
Het |
Ccnc |
T |
C |
4: 21,742,671 (GRCm39) |
M166T |
probably benign |
Het |
Cdkl3 |
T |
A |
11: 51,923,337 (GRCm39) |
M538K |
possibly damaging |
Het |
Cemip2 |
T |
A |
19: 21,775,346 (GRCm39) |
Y196* |
probably null |
Het |
Cercam |
G |
A |
2: 29,766,251 (GRCm39) |
A345T |
probably benign |
Het |
Chmp3 |
T |
A |
6: 71,537,954 (GRCm39) |
C60* |
probably null |
Het |
Ddx1 |
C |
T |
12: 13,289,542 (GRCm39) |
G125S |
probably damaging |
Het |
Defb7 |
A |
G |
8: 19,547,567 (GRCm39) |
D24G |
probably benign |
Het |
Dgcr8 |
A |
T |
16: 18,077,452 (GRCm39) |
Y653N |
probably damaging |
Het |
Dsc2 |
T |
C |
18: 20,183,208 (GRCm39) |
D70G |
probably damaging |
Het |
Erich3 |
T |
G |
3: 154,419,705 (GRCm39) |
N266K |
probably damaging |
Het |
Fastk |
A |
T |
5: 24,649,045 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
G |
3: 38,943,135 (GRCm39) |
N676S |
probably damaging |
Het |
Fermt1 |
A |
T |
2: 132,776,739 (GRCm39) |
|
probably null |
Het |
Fmn1 |
A |
G |
2: 113,523,463 (GRCm39) |
T1149A |
possibly damaging |
Het |
Foxo3 |
A |
G |
10: 42,073,068 (GRCm39) |
V483A |
probably damaging |
Het |
Fpgs |
T |
C |
2: 32,575,852 (GRCm39) |
T364A |
possibly damaging |
Het |
Gm12185 |
A |
G |
11: 48,806,262 (GRCm39) |
S310P |
probably damaging |
Het |
Gm15056 |
A |
T |
8: 21,391,949 (GRCm39) |
|
probably benign |
Het |
Hcn1 |
T |
C |
13: 118,112,112 (GRCm39) |
V692A |
unknown |
Het |
Izumo3 |
A |
C |
4: 92,035,140 (GRCm39) |
C26G |
probably damaging |
Het |
Kcnf1 |
T |
C |
12: 17,225,474 (GRCm39) |
Y249C |
probably damaging |
Het |
Kcnj6 |
T |
C |
16: 94,563,358 (GRCm39) |
E380G |
possibly damaging |
Het |
Kdm3b |
A |
G |
18: 34,942,149 (GRCm39) |
T747A |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,258,622 (GRCm39) |
G1370R |
probably damaging |
Het |
Mei1 |
G |
A |
15: 81,991,334 (GRCm39) |
R504Q |
probably damaging |
Het |
Mgat4f |
G |
A |
1: 134,318,512 (GRCm39) |
G428D |
probably damaging |
Het |
Ncor2 |
G |
A |
5: 125,110,610 (GRCm39) |
T1350I |
probably damaging |
Het |
Npy |
A |
G |
6: 49,800,705 (GRCm39) |
E43G |
probably damaging |
Het |
Or4e5 |
T |
A |
14: 52,727,603 (GRCm39) |
I273F |
probably benign |
Het |
Or5w19 |
T |
A |
2: 87,698,459 (GRCm39) |
N41K |
probably damaging |
Het |
Or8d2 |
T |
A |
9: 38,760,200 (GRCm39) |
N263K |
probably benign |
Het |
Pcdhb3 |
T |
C |
18: 37,434,634 (GRCm39) |
L200P |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,258,756 (GRCm39) |
H570Y |
possibly damaging |
Het |
Phf8-ps |
T |
A |
17: 33,284,679 (GRCm39) |
I708F |
probably benign |
Het |
Pkd1l2 |
A |
C |
8: 117,808,991 (GRCm39) |
D66E |
possibly damaging |
Het |
Plekhg4 |
A |
G |
8: 106,108,467 (GRCm39) |
D1170G |
possibly damaging |
Het |
Poln |
T |
A |
5: 34,190,143 (GRCm39) |
H672L |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,479,904 (GRCm39) |
Y1122C |
probably damaging |
Het |
Ptrhd1 |
A |
G |
12: 4,286,505 (GRCm39) |
Y132C |
probably damaging |
Het |
Pwwp3a |
G |
T |
10: 80,068,778 (GRCm39) |
R307S |
probably benign |
Het |
Riok1 |
G |
T |
13: 38,234,831 (GRCm39) |
R300L |
probably damaging |
Het |
Sbf2 |
G |
T |
7: 110,027,553 (GRCm39) |
T481K |
probably damaging |
Het |
Sidt2 |
A |
T |
9: 45,863,098 (GRCm39) |
M11K |
probably damaging |
Het |
Slc66a1 |
A |
T |
4: 139,027,391 (GRCm39) |
|
probably benign |
Het |
Syne1 |
G |
A |
10: 5,299,280 (GRCm39) |
R992* |
probably null |
Het |
Tmem8b |
C |
A |
4: 43,681,134 (GRCm39) |
R384S |
possibly damaging |
Het |
Trim28 |
T |
C |
7: 12,761,761 (GRCm39) |
Y243H |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,764,192 (GRCm39) |
M266T |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,539,437 (GRCm39) |
S368T |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Ttc6 |
G |
A |
12: 57,733,132 (GRCm39) |
V1092I |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,534,465 (GRCm39) |
T927I |
probably damaging |
Het |
Zfr |
C |
T |
15: 12,140,730 (GRCm39) |
T259I |
unknown |
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 |
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'- TTTTGCCGCACTAAAGAAATGCTACTG -3'
(R):5'- GCATGAACTGTCACAAGGAAATGCAC -3'
Sequencing Primer
(F):5'- GACATGGTAAGCCATTCTCTGAG -3'
(R):5'- GTGCAAAATTCACTGTTTCGG -3'
|
Posted On |
2014-04-13 |