Incidental Mutation 'R8468:Miip'
| ID |
656906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Miip
|
| Ensembl Gene |
ENSMUSG00000029022 |
| Gene Name |
migration and invasion inhibitory protein |
| Synonyms |
D4Wsu114e |
| MMRRC Submission |
067912-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
147945235-147953176 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 147945928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 325
(D325E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030886]
[ENSMUST00000119975]
[ENSMUST00000172710]
|
| AlphaFold |
A2A7Y5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030886
AA Change: D325E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030886
Gene: ENSMUSG00000029022
AA Change: D325E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119975
AA Change: D325E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113897
Gene: ENSMUSG00000029022
AA Change: D325E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
Pfam:MIIP
|
41 |
382 |
1.4e-142 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172710
AA Change: D325E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134085
Gene: ENSMUSG00000029022
AA Change: D325E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
69 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4244 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,592,444 (GRCm39) |
W655R |
possibly damaging |
Het |
| Adamts3 |
C |
T |
5: 89,842,627 (GRCm39) |
A748T |
probably benign |
Het |
| Ano1 |
A |
C |
7: 144,209,357 (GRCm39) |
F248C |
probably damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,241,891 (GRCm39) |
L628Q |
probably damaging |
Het |
| BC035947 |
C |
A |
1: 78,474,967 (GRCm39) |
A522S |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,076 (GRCm39) |
V1103A |
probably benign |
Het |
| Cd248 |
T |
A |
19: 5,119,910 (GRCm39) |
I586N |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,722,556 (GRCm39) |
M4428I |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,290,275 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,770,923 (GRCm39) |
L93Q |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,453 (GRCm39) |
D5G |
possibly damaging |
Het |
| Gphn |
T |
C |
12: 78,273,601 (GRCm39) |
V17A |
probably benign |
Het |
| Gpr85 |
A |
T |
6: 13,836,295 (GRCm39) |
L203H |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,599,198 (GRCm39) |
Y166C |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,313,560 (GRCm39) |
V356A |
probably damaging |
Het |
| Krt33b |
G |
A |
11: 99,920,615 (GRCm39) |
R13C |
probably damaging |
Het |
| Lgals3 |
A |
G |
14: 47,619,104 (GRCm39) |
I146V |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Naaladl1 |
T |
A |
19: 6,158,615 (GRCm39) |
V249E |
probably damaging |
Het |
| Nfxl1 |
C |
T |
5: 72,675,548 (GRCm39) |
R811K |
possibly damaging |
Het |
| Or12e10 |
T |
C |
2: 87,641,082 (GRCm39) |
I306T |
possibly damaging |
Het |
| Or2ag2b |
A |
G |
7: 106,418,046 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Or52e7 |
A |
T |
7: 104,684,953 (GRCm39) |
I183F |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,770,685 (GRCm39) |
D7G |
probably benign |
Het |
| Or5ak24 |
T |
A |
2: 85,260,522 (GRCm39) |
Y217F |
probably damaging |
Het |
| Or6c69c |
C |
T |
10: 129,910,303 (GRCm39) |
T8I |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,560,464 (GRCm39) |
D357G |
possibly damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,482,979 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,703,987 (GRCm39) |
E2011G |
probably damaging |
Het |
| Sestd1 |
T |
A |
2: 77,022,090 (GRCm39) |
T534S |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,941 (GRCm39) |
A75T |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,320,262 (GRCm39) |
R882H |
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Speg |
C |
T |
1: 75,407,953 (GRCm39) |
A3216V |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,370 (GRCm39) |
T112A |
probably benign |
Het |
| Zfp937 |
T |
G |
2: 150,080,634 (GRCm39) |
D221E |
probably benign |
Het |
|
| Other mutations in Miip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00531:Miip
|
APN |
4 |
147,950,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02134:Miip
|
APN |
4 |
147,949,735 (GRCm39) |
splice site |
probably benign |
|
|
IGL02829:Miip
|
APN |
4 |
147,947,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03350:Miip
|
APN |
4 |
147,946,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0200:Miip
|
UTSW |
4 |
147,946,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1647:Miip
|
UTSW |
4 |
147,949,691 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1783:Miip
|
UTSW |
4 |
147,950,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Miip
|
UTSW |
4 |
147,947,549 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1944:Miip
|
UTSW |
4 |
147,950,422 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3615:Miip
|
UTSW |
4 |
147,950,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3616:Miip
|
UTSW |
4 |
147,950,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3882:Miip
|
UTSW |
4 |
147,945,509 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4579:Miip
|
UTSW |
4 |
147,945,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Miip
|
UTSW |
4 |
147,947,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Miip
|
UTSW |
4 |
147,950,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6056:Miip
|
UTSW |
4 |
147,946,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6304:Miip
|
UTSW |
4 |
147,947,540 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6568:Miip
|
UTSW |
4 |
147,950,372 (GRCm39) |
missense |
probably benign |
|
|
R6603:Miip
|
UTSW |
4 |
147,950,380 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7639:Miip
|
UTSW |
4 |
147,947,021 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7701:Miip
|
UTSW |
4 |
147,947,371 (GRCm39) |
missense |
probably null |
0.86 |
|
R7795:Miip
|
UTSW |
4 |
147,947,375 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7796:Miip
|
UTSW |
4 |
147,947,375 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7797:Miip
|
UTSW |
4 |
147,947,375 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7872:Miip
|
UTSW |
4 |
147,947,375 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7920:Miip
|
UTSW |
4 |
147,947,375 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8492:Miip
|
UTSW |
4 |
147,945,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Miip
|
UTSW |
4 |
147,947,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8852:Miip
|
UTSW |
4 |
147,950,839 (GRCm39) |
start gained |
probably benign |
|
|
R8860:Miip
|
UTSW |
4 |
147,950,839 (GRCm39) |
start gained |
probably benign |
|
|
R9755:Miip
|
UTSW |
4 |
147,950,319 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGGATCTGTCCCACCTGG -3'
(R):5'- TCAAGGCCAAGTCCAACATGG -3'
Sequencing Primer
(F):5'- TGGACACTTTCCCACCCCAG -3'
(R):5'- GAAAGGATTCCATTAATATCCCCATC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation