Incidental Mutation 'R3723:Mipol1'
| ID |
270641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mipol1
|
| Ensembl Gene |
ENSMUSG00000047022 |
| Gene Name |
mirror-image polydactyly 1 |
| Synonyms |
6030439O22Rik, D12Ertd19e, 1700081O04Rik |
| MMRRC Submission |
040714-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
57277211-57504027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 57503878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 349
(L349I)
|
| 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: L349I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: L349I
| 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: L349I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: L349I
| 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: L349I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: L349I
| 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: ENSMUST00000153137
AA Change: L349I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: L349I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
70 |
127 |
N/A |
INTRINSIC |
|
Blast:HNHc
|
220 |
265 |
2e-15 |
BLAST |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
95% (38/40) |
| 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 |
|---|
| Ahnak |
T |
C |
19: 8,994,217 (GRCm39) |
V5167A |
possibly damaging |
Het |
| Ano5 |
A |
G |
7: 51,226,276 (GRCm39) |
Y510C |
probably damaging |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,327 (GRCm39) |
Q1570L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,763 (GRCm39) |
N3415S |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,214,772 (GRCm39) |
I361F |
probably damaging |
Het |
| C9 |
G |
A |
15: 6,512,561 (GRCm39) |
E228K |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,304,731 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
| Ckap4 |
A |
G |
10: 84,364,256 (GRCm39) |
L269P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,486,505 (GRCm39) |
D3352V |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,658 (GRCm39) |
M3335K |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,221,412 (GRCm39) |
|
probably benign |
Het |
| Glis3 |
A |
T |
19: 28,239,991 (GRCm39) |
C97* |
probably null |
Het |
| Gm14221 |
C |
G |
2: 160,410,347 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8603 |
A |
C |
17: 13,737,075 (GRCm39) |
|
probably null |
Het |
| Gm9767 |
G |
T |
10: 25,954,469 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
| Kif18b |
A |
G |
11: 102,807,102 (GRCm39) |
F78L |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
| Myo10 |
T |
C |
15: 25,803,374 (GRCm39) |
V1527A |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,359,522 (GRCm39) |
Y571* |
probably null |
Het |
| Npl |
A |
G |
1: 153,391,210 (GRCm39) |
F182L |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,440,018 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,045 (GRCm39) |
T350A |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,693,251 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,553,252 (GRCm39) |
E148G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,407,613 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,335 (GRCm39) |
S1035P |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
A |
G |
17: 45,305,274 (GRCm39) |
D108G |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,545 (GRCm39) |
I236V |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,964,099 (GRCm39) |
S1511G |
probably damaging |
Het |
| Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
| Vmn1r117 |
T |
A |
7: 20,617,380 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,305,540 (GRCm39) |
|
probably null |
Het |
| Zfp30 |
A |
G |
7: 29,492,778 (GRCm39) |
E344G |
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 |
|
|
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 |
|
|
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'- TTTAGAAGAGGGGTTTCACATGAAG -3'
(R):5'- AAAACTATGTGGACTGTTGGGTTTC -3'
Sequencing Primer
(F):5'- CAGTTTAACCATGCCCTT -3'
(R):5'- GCTGGATCGGTTACTTAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation