Incidental Mutation 'R5113:Mipol1'
| ID |
394034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mipol1
|
| Ensembl Gene |
ENSMUSG00000047022 |
| Gene Name |
mirror-image polydactyly 1 |
| Synonyms |
6030439O22Rik, D12Ertd19e, 1700081O04Rik |
| MMRRC Submission |
042701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5113 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
57277211-57504027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57543285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 393
(T393I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123498]
[ENSMUST00000130447]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123498
AA Change: T393I
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: T393I
| 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: T393I
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: T393I
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12e |
A |
G |
11: 70,206,821 (GRCm39) |
V622A |
possibly damaging |
Het |
| Ankef1 |
A |
G |
2: 136,394,361 (GRCm39) |
N590S |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano3 |
A |
T |
2: 110,491,825 (GRCm39) |
N867K |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,973,582 (GRCm39) |
V2547A |
probably damaging |
Het |
| Chil5 |
A |
T |
3: 105,925,294 (GRCm39) |
V209E |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,613,147 (GRCm39) |
C459S |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,944,159 (GRCm39) |
D1105V |
possibly damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,151,882 (GRCm39) |
D199G |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,742,902 (GRCm39) |
|
probably null |
Het |
| Cysrt1 |
A |
T |
2: 25,129,363 (GRCm39) |
C50S |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,869,592 (GRCm39) |
K278R |
probably benign |
Het |
| Eefsec |
C |
A |
6: 88,258,557 (GRCm39) |
S512I |
probably damaging |
Het |
| Emilin1 |
T |
C |
5: 31,077,964 (GRCm39) |
F908L |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,503,596 (GRCm39) |
V731A |
possibly damaging |
Het |
| Erc2 |
T |
C |
14: 27,374,829 (GRCm39) |
S16P |
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,714,626 (GRCm39) |
R342G |
probably damaging |
Het |
| Gpr142 |
A |
T |
11: 114,695,143 (GRCm39) |
Q36L |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,714,952 (GRCm39) |
S681P |
probably damaging |
Het |
| Hecw1 |
A |
T |
13: 14,520,614 (GRCm39) |
S208T |
possibly damaging |
Het |
| Hmgcr |
G |
A |
13: 96,793,240 (GRCm39) |
A464V |
probably benign |
Het |
| Igkv2-109 |
A |
G |
6: 68,280,069 (GRCm39) |
T97A |
possibly damaging |
Het |
| Ino80 |
G |
T |
2: 119,262,426 (GRCm39) |
Q687K |
probably damaging |
Het |
| Kdm4d |
T |
C |
9: 14,375,409 (GRCm39) |
N150D |
probably damaging |
Het |
| Klf4 |
A |
G |
4: 55,530,481 (GRCm39) |
I210T |
possibly damaging |
Het |
| Klkb1 |
C |
A |
8: 45,723,734 (GRCm39) |
Q560H |
probably benign |
Het |
| Lce1a2 |
A |
T |
3: 92,576,442 (GRCm39) |
V40E |
unknown |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mst1 |
A |
G |
9: 107,959,446 (GRCm39) |
D244G |
probably damaging |
Het |
| Nexn |
G |
A |
3: 151,949,525 (GRCm39) |
R258C |
probably damaging |
Het |
| Optc |
T |
C |
1: 133,828,715 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,221 (GRCm39) |
N282S |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,371 (GRCm39) |
I195L |
probably benign |
Het |
| Or6c207 |
A |
G |
10: 129,104,535 (GRCm39) |
I219T |
probably damaging |
Het |
| Or7a37 |
A |
G |
10: 78,806,037 (GRCm39) |
I185V |
probably benign |
Het |
| Pabpc2 |
C |
A |
18: 39,908,436 (GRCm39) |
P567Q |
probably benign |
Het |
| Pierce2 |
T |
A |
9: 72,887,175 (GRCm39) |
R111* |
probably null |
Het |
| Ppm1j |
A |
G |
3: 104,691,990 (GRCm39) |
H324R |
possibly damaging |
Het |
| Reg3g |
A |
T |
6: 78,443,544 (GRCm39) |
|
probably null |
Het |
| Sipa1l1 |
C |
T |
12: 82,487,682 (GRCm39) |
A1652V |
probably benign |
Het |
| Ski |
T |
C |
4: 155,243,849 (GRCm39) |
T554A |
probably benign |
Het |
| Slfn5 |
G |
A |
11: 82,852,522 (GRCm39) |
V883M |
probably benign |
Het |
| Stradb |
T |
C |
1: 59,030,333 (GRCm39) |
|
probably benign |
Het |
| Tex19.1 |
A |
G |
11: 121,038,625 (GRCm39) |
T328A |
probably benign |
Het |
| Tpsab1 |
T |
C |
17: 25,564,373 (GRCm39) |
N27S |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,643,244 (GRCm39) |
L13225Q |
probably damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,843 (GRCm39) |
T229A |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,446,711 (GRCm39) |
K600E |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 169,955,978 (GRCm39) |
|
probably null |
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 |
|
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'- TCACAGTAACGCTTTGTCTCTTAG -3'
(R):5'- AATAACTGTAGTCAGCAGCAAAGTG -3'
Sequencing Primer
(F):5'- CTTAGCATGACTACCGGTATGGC -3'
(R):5'- CAGCAGCAAAGTGGTTAAACATTTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation